#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_ORegAnno_bin	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
AATK	9625	genome.wustl.edu	37	17	79139481	79139481	+	Intron	SNP	C	C	G	rs117546586	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:79139481C>G	ENST00000326724.4	-	1	80				AATK-AS1_ENST00000571031.1_RNA|AATK-AS1_ENST00000414089.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase						brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCCCAGTTACCTGTGCCCTG	0.716													C|||	10	0.00199681	0.0008	0.0	5008	,	,		11845	0.0		0.008	False		,,,				2504	0.001					dbGAP											0													34.0	37.0	36.0					17																	79139481		691	1590	2281	-	-	-	SO:0001627	intron_variant	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.55+256G>C	17.37:g.79139481C>G			O75136|Q6ZN31|Q86X28	Splice_Site	SNP	-	NULL	ENST00000326724.4	37	c.NULL	CCDS45807.1	17																																																																																			AATK	-	-	ENSG00000181409		0.716	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	34	0.00	0	C	NM_004920		79139481	79139481	-1	no_errors	ENST00000572798	ensembl	human	known	69_37n	splice_site	6	62.50	10	SNP	0.504	G
ZNF721	170960	genome.wustl.edu	37	4	419565	419565	+	IGR	SNP	C	C	T	rs7666919	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:419565C>T	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						AGAATCTTCCCGTGGGAGAAG	0.373													T|||	1955	0.390375	0.5628	0.3069	5008	,	,		16295	0.2847		0.3688	False		,,,				2504	0.3476					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.419565C>T			Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-	ENSG00000251595		0.373	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	17	0.00	0	C	NM_133474		419565	419565	-1	no_errors	ENST00000451020	ensembl	human	known	69_37n	rna	17	63.04	29	SNP	0.001	T
ZNF721	170960	genome.wustl.edu	37	4	420688	420688	+	3'UTR	SNP	C	C	T	rs2280250|rs386670388	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:420688C>T	ENST00000506646.1	-	0	824				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						GGTATGAGTTCCTCTACTTCG	0.408													T|||	1950	0.389377	0.562	0.3069	5008	,	,		19003	0.2867		0.3688	False		,,,				2504	0.3415					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_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		ENST00000506646.1:c.*267G>A	4.37:g.420688C>T			Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-	ENSG00000251595		0.408	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	179	0.56	1	C	NM_133474		420688	420688	-1	no_errors	ENST00000451020	ensembl	human	known	69_37n	rna	121	54.85	147	SNP	0.281	T
ABCA13	154664	genome.wustl.edu	37	7	48311833	48311833	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:48311833T>A	ENST00000435803.1	+	17	2594	c.2570T>A	c.(2569-2571)tTa>tAa	p.L857*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	857					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						TTTACACTTTTAAATTTTTCT	0.308																																						dbGAP											0													48.0	48.0	48.0					7																	48311833		1785	4052	5837	-	-	-	SO:0001587	stop_gained	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.2570T>A	7.37:g.48311833T>A	ENSP00000411096:p.Leu857*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L857*	ENST00000435803.1	37	c.2570	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224649	0.79576	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.86	3.43	0.39272	.	1.011940	0.07964	N	0.982793	.	.	.	.	.	.	0.24179	N	0.995596	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9045	0.29755	0.0:0.1696:0.0:0.8304	.	.	.	.	X	857	.	ENSP00000411096:L857X	L	+	2	0	ABCA13	48282379	0.043000	0.20138	0.048000	0.18961	0.019000	0.09904	0.369000	0.20416	0.450000	0.26774	0.528000	0.53228	TTA	ABCA13	-	NULL	ENSG00000179869		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	13	0.00	0	T	NM_152701		48311833	48311833	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	nonsense	28	66.67	56	SNP	0.384	A
ABCB1	5243	genome.wustl.edu	37	7	87178679	87178679	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:87178679C>T	ENST00000265724.3	-	15	2127	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	ABCB1_ENST00000543898.1_Silent_p.Q506Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	570	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)	CCAGAGCCACCTGAACCACTG	0.468																																						dbGAP											0													101.0	81.0	88.0					7																	87178679		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.1710G>A	7.37:g.87178679C>T			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.Q570	ENST00000265724.3	37	c.1710	CCDS5608.1	7																																																																																			ABCB1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.468	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	100	0.00	0	C	NM_000927		87178679	87178679	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	57	41.24	40	SNP	1.000	T
ABCC3	8714	genome.wustl.edu	37	17	48755388	48755388	+	Intron	SNP	C	C	T	rs967935	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:48755388C>T	ENST00000285238.8	+	25	3658					NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCTCCTTTCCCCTAAGCAG	0.597													C|||	609	0.121605	0.1732	0.0879	5008	,	,		16894	0.1567		0.0467	False		,,,				2504	0.1166					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3579-66C>T	17.37:g.48755388C>T			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	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,tigrfam_Multidrug-R_assoc	p.S1221F	ENST00000285238.8	37	c.3662	CCDS32681.1	17																																																																																			ABCC3	-	NULL	ENSG00000108846		0.597	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	41	0.00	0	C	NM_020038		48755388	48755388	+1	no_errors	ENST00000505699	ensembl	human	known	69_37n	missense	32	43.86	25	SNP	0.000	T
ADAM21P1	145241	genome.wustl.edu	37	14	70713156	70713156	+	RNA	SNP	G	G	A	rs11629177	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:70713156G>A	ENST00000530196.1	-	0	1362					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TTCCCACAGCGCTTTAGCATA	0.448													G|||	1687	0.336861	0.1785	0.4957	5008	,	,		25435	0.1677		0.4742	False		,,,				2504	0.4714					dbGAP											0																																										-	-	-			0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713156G>A				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.448	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	295	0.00	0	G	NG_002467		70713156	70713156	-1	no_errors	ENST00000530196	ensembl	human	known	69_37n	rna	92	43.21	70	SNP	0.322	A
ADAM21P1	145241	genome.wustl.edu	37	14	70714027	70714028	+	RNA	DNP	AC	AC	TG	rs71448314|rs28562608|rs28597838	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:70714027_70714028AC>TG	ENST00000530196.1	-	0	490_491					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ACTCAGGGGCACCCTCCACGTA	0.49																																						dbGAP											0																																										-	-	-			0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565	Exception_encountered	14.37:g.70714027_70714028delinsTG				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.490	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	213|212	0.93	2	A|C	NG_002467		70714027|70714028	70714027|70714028	-1	no_errors	ENST00000530196	ensembl	human	known	69_37n	rna	47|46	33.80|36.11	24|26	SNP	0.110|0.680	T|G
ADAM21	8747	genome.wustl.edu	37	14	70924507	70924507	+	Silent	SNP	A	A	C	rs3751524	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:70924507A>C	ENST00000603540.1	+	2	549	c.291A>C	c.(289-291)gcA>gcC	p.A97A	ADAM21_ENST00000267499.3_Silent_p.A97A|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	97					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)	p.A97A(1)		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)		ATGACCGTGCACTCCTGGAGG	0.512																																						dbGAP											1	Substitution - coding silent(1)	stomach(1)											95.0	103.0	101.0					14																	70924507		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.291A>C	14.37:g.70924507A>C			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.A97	ENST00000603540.1	37	c.291	CCDS9804.1	14																																																																																			ADAM21	-	pfam_Peptidase_M12B_N	ENSG00000139985		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	86	0.00	0	A			70924507	70924507	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	silent	49	46.15	42	SNP	0.000	C
ADAMTS12	81792	genome.wustl.edu	37	5	33751454	33751454	+	Intron	SNP	A	A	T	rs1530507	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:33751454A>T	ENST00000504830.1	-	3	970				ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000515401.1_Nonsense_Mutation_p.L230*|ADAMTS12_ENST00000504582.1_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						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.L230*(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						TTAATAAAACAACCAAAAGAA	0.353										HNSCC(64;0.19)			A|||	2789	0.556909	0.3729	0.6513	5008	,	,		18246	0.5605		0.7336	False		,,,				2504	0.5532					dbGAP											1	Substitution - Nonsense(1)	stomach(1)																																								-	-	-	SO:0001627	intron_variant	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.634+54T>A	5.37:g.33751454A>T			A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N	p.L230*	ENST00000504830.1	37	c.689	CCDS34140.1	5	1287	0.5892857142857143	184	0.37398373983739835	233	0.643646408839779	313	0.5472027972027972	557	0.7348284960422163	A	14.53	2.562141	0.45590	.	.	ENSG00000151388	ENST00000515401	.	.	.	5.23	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.32245	P	0.572226	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4764	0.22039	0.5441:0.3682:0.0877:0.0	rs1530507;rs58530917;rs1530507	.	.	.	X	230	.	ENSP00000421638:L230X	L	-	2	0	ADAMTS12	33787211	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.502000	0.22594	-0.008000	0.14320	0.460000	0.39030	TTG	ADAMTS12	-	NULL	ENSG00000151388		0.353	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	69	0.00	0	A	NM_030955		33751454	33751454	-1	no_errors	ENST00000515401	ensembl	human	known	69_37n	nonsense	50	62.12	82	SNP	0.001	T
ADCY5	111	genome.wustl.edu	37	3	123019109	123019109	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:123019109C>A	ENST00000462833.1	-	15	3970	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	ADCY5_ENST00000309879.5_Missense_Mutation_p.A570S|ADCY5_ENST00000491190.1_Missense_Mutation_p.A553S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	920					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACGGAGCAGGCCAGCAGGCTG	0.652																																						dbGAP											0													91.0	69.0	76.0					3																	123019109		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2758G>T	3.37:g.123019109C>A	ENSP00000419361:p.Ala920Ser		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A920S	ENST00000462833.1	37	c.2758	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926982	0.73327	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;D;D;T	0.81739	-1.11;-1.52;-1.53;-1.4	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.78400	0.4277	M	0.62088	1.915	0.80722	D	1	B;P	0.35507	0.435;0.506	B;B	0.35114	0.099;0.196	T	0.76814	-0.2820	10	0.24483	T	0.36	.	17.5802	0.87965	0.0:1.0:0.0:0.0	.	920;553	O95622;B3KWA8	ADCY5_HUMAN;.	S	920;553;570;479	ENSP00000419361:A920S;ENSP00000418537:A553S;ENSP00000308685:A570S;ENSP00000420082:A479S	ENSP00000308685:A570S	A	-	1	0	ADCY5	124501799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.541000	0.60670	2.359000	0.80004	0.655000	0.94253	GCC	ADCY5	-	NULL	ENSG00000173175		0.652	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	10	0.00	0	C	XM_171048		123019109	123019109	-1	no_errors	ENST00000462833	ensembl	human	known	69_37n	missense	4	69.23	9	SNP	1.000	A
ADCY7	113	genome.wustl.edu	37	16	50348998	50348998	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:50348998T>C	ENST00000394697.2	+	25	3385	c.3045T>C	c.(3043-3045)acT>acC	p.T1015T	ADCY7_ENST00000254235.3_Silent_p.T1015T			P51828	ADCY7_HUMAN	adenylate cyclase 7	1015	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)		GGGGAAACACTGTCAATGTGG	0.483																																						dbGAP											0													115.0	117.0	116.0					16																	50348998		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.3045T>C	16.37:g.50348998T>C			A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T1015	ENST00000394697.2	37	c.3045	CCDS10741.1	16																																																																																			ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.483	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	68	0.00	0	T			50348998	50348998	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	silent	39	43.48	30	SNP	0.011	C
ADH6	130	genome.wustl.edu	37	4	100129871	100129871	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:100129871G>C	ENST00000237653.7	-	6	1166	c.782C>G	c.(781-783)gCt>gGt	p.A261G	ADH6_ENST00000407820.2_Missense_Mutation_p.A52G|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.A261G|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.A261G|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	261					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.A261V(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GTCTATACCAGCATCTGTCAT	0.403																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											202.0	215.0	210.0					4																	100129871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.782C>G	4.37:g.100129871G>C	ENSP00000237653:p.Ala261Gly		B3KS45|Q58F53	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.A261G	ENST00000237653.7	37	c.782	CCDS3647.1	4	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.964288	0.02249	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.13420	4.13;2.59;2.59;2.59;4.13	4.71	-4.42	0.03579	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.268840	0.05251	N	0.513889	T	0.01695	0.0054	N	0.00084	-2.21	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.38436	-0.9661	10	0.02654	T	1	-0.0264	2.1027	0.03683	0.1391:0.3152:0.2169:0.3288	.	138;261;261;261	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	G	261;261;52;261;197	ENSP00000378358:A261G;ENSP00000378359:A261G;ENSP00000384997:A52G;ENSP00000237653:A261G;ENSP00000426187:A197G	ENSP00000237653:A261G	A	-	2	0	ADH6	100348894	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.392000	0.07314	-0.805000	0.04404	-0.259000	0.10710	GCT	ADH6	-	pfam_ADH_C,smart_PKS_ER	ENSG00000172955		0.403	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	45	0.00	0	G	NM_000672		100129871	100129871	-1	no_errors	ENST00000394899	ensembl	human	known	69_37n	missense	68	50.00	68	SNP	0.000	C
AEN	64782	genome.wustl.edu	37	15	89172467	89172467	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:89172467T>A	ENST00000332810.3	+	3	702	c.551T>A	c.(550-552)cTc>cAc	p.L184H	AEN_ENST00000379231.3_Missense_Mutation_p.L184H	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	184	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATCCTTAAGCTCCTGAAGGGC	0.602																																						dbGAP											0													85.0	85.0	85.0					15																	89172467		2200	4299	6499	-	-	-	SO:0001583	missense	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.551T>A	15.37:g.89172467T>A	ENSP00000331944:p.Leu184His		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L184H	ENST00000332810.3	37	c.551	CCDS10344.1	15	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474068	0.84640	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.26660	1.72;1.72	5.4	5.4	0.78164	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.112873	0.35870	N	0.002933	T	0.52370	0.1730	M	0.78456	2.415	0.43988	D	0.996686	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.57917	-0.7728	10	0.87932	D	0	-4.079	14.5948	0.68397	0.0:0.0:0.0:1.0	.	184;184	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	H	184	ENSP00000331944:L184H;ENSP00000368533:L184H	ENSP00000331944:L184H	L	+	2	0	AEN	86973471	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	7.427000	0.80284	2.035000	0.60131	0.533000	0.62120	CTC	AEN	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000181026		0.602	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1	21	0.00	0	T	NM_022767		89172467	89172467	+1	no_errors	ENST00000379231	ensembl	human	known	69_37n	missense	7	63.16	12	SNP	0.999	A
AFF3	3899	genome.wustl.edu	37	2	100182032	100182032	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:100182032G>A	ENST00000409236.2	-	18	3148	c.3036C>T	c.(3034-3036)atC>atT	p.I1012I	AFF3_ENST00000409579.1_Silent_p.I1037I|AFF3_ENST00000356421.2_Silent_p.I1037I|AFF3_ENST00000317233.4_Silent_p.I1012I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1012					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTCCACACTCGATAAACGACA	0.398																																						dbGAP											0													177.0	162.0	167.0					2																	100182032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3036C>T	2.37:g.100182032G>A			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.I1037	ENST00000409236.2	37	c.3111	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	93	0.00	0	G	NM_002285		100182032	100182032	-1	no_errors	ENST00000356421	ensembl	human	known	69_37n	silent	87	53.48	100	SNP	0.760	A
AGAP2	116986	genome.wustl.edu	37	12	58125681	58125681	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:58125681C>T	ENST00000547588.1	-	8	1863	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	AGAP2_ENST00000257897.3_Missense_Mutation_p.E286K	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	622					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						GCTCGGAGCTCCCGGTGACCA	0.612																																						dbGAP											0													44.0	41.0	42.0					12																	58125681		2203	4300	6503	-	-	-	SO:0001583	missense	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.1864G>A	12.37:g.58125681C>T	ENSP00000449241:p.Glu622Lys		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.E622K	ENST00000547588.1	37	c.1864	CCDS44932.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.706836|5.706836	0.96821|0.96821	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.36157|.	1.46;1.27|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.356204|.	0.27266|.	N|.	0.020152|.	T|T	0.67297|0.67297	0.2878|0.2878	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999994|0.999994	D;D;P|.	0.62365|.	0.991;0.97;0.949|.	P;D;P|.	0.63703|.	0.885;0.917;0.827|.	T|T	0.64228|0.64228	-0.6457|-0.6457	10|5	0.33141|.	T|.	0.24|.	.|.	16.778|16.778	0.85556|0.85556	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286;622;622|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	K|E	286;622|485	ENSP00000257897:E286K;ENSP00000449241:E622K|.	ENSP00000257897:E286K|.	E|G	-|-	1|2	0|0	AGAP2|AGAP2	56411948|56411948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.697000|6.697000	0.74603|0.74603	2.571000|2.571000	0.86741|0.86741	0.561000|0.561000	0.74099|0.74099	GAG|GGA	AGAP2	-	NULL	ENSG00000135439		0.612	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408367.1	67	0.00	0	C	NM_014770		58125681	58125681	-1	no_errors	ENST00000547588	ensembl	human	known	69_37n	missense	26	35.00	14	SNP	1.000	T
AGAP6	414189	genome.wustl.edu	37	10	51748684	51748684	+	Missense_Mutation	SNP	G	G	A	rs61848260	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:51748684G>A	ENST00000374056.4	+	1	607	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	AGAP6_ENST00000412531.3_Missense_Mutation_p.R70Q			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	70				R -> Q (in Ref. 2; BC131545). {ECO:0000305}.	regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592													G|||	2505	0.5002	0.6067	0.5519	5008	,	,		18957	0.3899		0.4463	False		,,,				2504	0.4888					dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.209G>A	10.37:g.51748684G>A	ENSP00000363168:p.Arg70Gln			Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R70Q	ENST00000374056.4	37	c.209		10	.	.	.	.	.	.	.	.	.	.	G	4.840	0.156245	0.09236	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.89196	-2.48;-2.48	1.2	1.2	0.21068	.	0.119796	0.56097	D	0.000023	T	0.76593	0.4009	N	0.20574	0.59	0.54753	P	1.799999999996249E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.71314	-0.4630	9	0.40728	T	0.16	.	5.7611	0.18201	0.0:0.0:1.0:0.0	rs61848260	70	C9IYN2	.	Q	70	ENSP00000363168:R70Q;ENSP00000400972:R70Q	ENSP00000363168:R70Q	R	+	2	0	AGAP6	51418690	0.995000	0.38212	0.964000	0.40570	0.005000	0.04900	0.588000	0.23924	0.963000	0.38082	0.187000	0.17357	CGG	AGAP6	-	NULL	ENSG00000204149		0.592	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		78	0.00	0	G	NM_001077665		51748684	51748684	+1	no_errors	ENST00000374056	ensembl	human	known	69_37n	missense	32	55.56	40	SNP	0.971	A
AGAP5	729092	genome.wustl.edu	37	10	75442543	75442543	+	Missense_Mutation	SNP	C	C	T	rs200625436	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:75442543C>T	ENST00000374094.4	-	5	446	c.406G>A	c.(406-408)Gag>Aag	p.E136K	AGAP5_ENST00000443782.2_Missense_Mutation_p.E113K|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	136					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTGAAACGCTCAGTAGATACC	0.368																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.406G>A	10.37:g.75442543C>T	ENSP00000363207:p.Glu136Lys		A8MSN5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E136K	ENST00000374094.4	37	c.406	CCDS44439.1	10	.	.	.	.	.	.	.	.	.	.	-	5.076	0.199693	0.09652	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88277	-2.36;-2.36	1.65	1.65	0.23941	.	0.252291	0.30723	N	0.009003	T	0.80265	0.4591	L	0.32530	0.975	0.50171	P	1.4999999999998348E-4	B	0.10296	0.003	B	0.09377	0.004	T	0.77078	-0.2721	9	0.28530	T	0.3	.	9.3449	0.38102	0.0:1.0:0.0:0.0	.	136	A6NIR3	AGAP5_HUMAN	K	136;113	ENSP00000363207:E136K;ENSP00000402792:E113K	ENSP00000363207:E136K	E	-	1	0	AGAP5	75112549	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	2.888000	0.48594	1.242000	0.43836	0.152000	0.16155	GAG	AGAP5	-	NULL	ENSG00000172650		0.368	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP5	HGNC	protein_coding		71	0.00	0	C	XM_001132585		75442543	75442543	-1	no_errors	ENST00000374094	ensembl	human	known	69_37n	missense	53	42.39	39	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247059157	247059157	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:247059157A>C	ENST00000391829.2	-	13	1817	c.1694T>G	c.(1693-1695)aTc>aGc	p.I565S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I574S|AHCTF1_ENST00000366508.1_Missense_Mutation_p.I600S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	565	Necessary for cytoplasmic 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)			CCATCTTCGGATATAACCAGT	0.318																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													110.0	111.0	111.0					1																	247059157		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.1694T>G	1.37:g.247059157A>C	ENSP00000375705:p.Ile565Ser		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.I574S	ENST00000391829.2	37	c.1721		1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907165	0.72868	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.46063	0.88;0.88;0.88	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.67145	0.996;0.994	D;P	0.64410	0.925;0.883	T	0.56517	-0.7966	10	0.87932	D	0	-10.9358	15.8613	0.79021	1.0:0.0:0.0:0.0	.	600;565	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	S	600;574;565	ENSP00000355464:I600S;ENSP00000355465:I574S;ENSP00000375705:I565S	ENSP00000355465:I574S	I	-	2	0	AHCTF1	245125780	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	8.377000	0.90141	2.131000	0.65755	0.528000	0.53228	ATC	AHCTF1	-	NULL	ENSG00000153207		0.318	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		80	0.00	0	A	NM_015446		247059157	247059157	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	105	64.77	193	SNP	1.000	C
AHNAK2	113146	genome.wustl.edu	37	14	105409445	105409445	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:105409445G>A	ENST00000333244.5	-	7	12462	c.12343C>T	c.(12343-12345)Ctg>Ttg	p.L4115L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4115						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)			TCCCCCTCCAGCTGCACACCA	0.592																																						dbGAP											0													226.0	235.0	232.0					14																	105409445		2009	4157	6166	-	-	-	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.12343C>T	14.37:g.105409445G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L4115	ENST00000333244.5	37	c.12343	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	127	0.00	0	G	NM_138420		105409445	105409445	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	48	36.84	28	SNP	0.019	A
AKAP13	11214	genome.wustl.edu	37	15	86124221	86124221	+	Silent	SNP	G	G	A	rs552404405	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:86124221G>A	ENST00000394518.2	+	7	3017	c.2922G>A	c.(2920-2922)aaG>aaA	p.K974K	AKAP13_ENST00000361243.2_Silent_p.K974K|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	974					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACTGTGCCAAGGACAAAGCAC	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		24266	0.0		0.0	False		,,,				2504	0.002				Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													89.0	91.0	90.0					15																	86124221		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2922G>A	15.37:g.86124221G>A			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,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.K974	ENST00000394518.2	37	c.2922	CCDS32319.1	15																																																																																			AKAP13	-	NULL	ENSG00000170776		0.463	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	14	0.00	0	G	NM_007200		86124221	86124221	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	0.423	A
AKNAD1	254268	genome.wustl.edu	37	1	109365781	109365781	+	Intron	SNP	C	C	T	rs61797355	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:109365781C>T	ENST00000370001.3	-	13	2436				AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000357393.4_3'UTR|AKNAD1_ENST00000369994.1_Silent_p.S721S|AKNAD1_ENST00000369995.3_Silent_p.S760S	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						TTGGTCACTGCGATTTCATAT	0.448													C|||	119	0.023762	0.0038	0.0634	5008	,	,		19486	0.0		0.0666	False		,,,				2504	0.0031					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+210G>A	1.37:g.109365781C>T			B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	pfam_TF_AT-hook	p.S760	ENST00000370001.3	37	c.2280	CCDS791.2	1																																																																																			AKNAD1	-	NULL	ENSG00000162641		0.448	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	29	0.00	0	C	NM_152763		109365781	109365781	-1	no_errors	ENST00000369995	ensembl	human	known	69_37n	silent	10	58.33	14	SNP	0.000	T
AMDHD1	144193	genome.wustl.edu	37	12	96350696	96350696	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:96350696C>G	ENST00000266736.2	+	4	649	c.543C>G	c.(541-543)gaC>gaG	p.D181E		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	181					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGGAGCTGGACATCGGCATCT	0.607																																						dbGAP											0													91.0	100.0	97.0					12																	96350696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.543C>G	12.37:g.96350696C>G	ENSP00000266736:p.Asp181Glu		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.D181E	ENST00000266736.2	37	c.543	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476052	0.44044	.	.	ENSG00000139344	ENST00000266736	T	0.42131	0.98	5.57	2.59	0.31030	Metal-dependent hydrolase, composite domain (1);	0.541239	0.22489	N	0.059388	T	0.26268	0.0641	N	0.20483	0.58	0.25459	N	0.987939	B	0.12630	0.006	B	0.23852	0.049	T	0.18116	-1.0347	10	0.48119	T	0.1	-16.7051	7.1096	0.25382	0.2449:0.628:0.0:0.1271	.	181	Q96NU7	HUTI_HUMAN	E	181	ENSP00000266736:D181E	ENSP00000266736:D181E	D	+	3	2	AMDHD1	94874827	0.988000	0.35896	0.208000	0.23602	0.808000	0.45660	0.337000	0.19841	0.654000	0.30846	0.491000	0.48974	GAC	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.607	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	18	0.00	0	C	NM_152435		96350696	96350696	+1	no_errors	ENST00000266736	ensembl	human	known	69_37n	missense	5	73.68	14	SNP	1.000	G
ANK2	287	genome.wustl.edu	37	4	114278329	114278329	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:114278329A>G	ENST00000357077.4	+	38	8608	c.8555A>G	c.(8554-8556)cAt>cGt	p.H2852R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.H2819R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2852					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)		TCTTTGCCTCATTGTTTGGTA	0.388																																						dbGAP											0													102.0	102.0	102.0					4																	114278329		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.8555A>G	4.37:g.114278329A>G	ENSP00000349588:p.His2852Arg		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.H2852R	ENST00000357077.4	37	c.8555	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	A	3.724	-0.057010	0.07317	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.2;-0.21	5.75	-3.73	0.04398	.	1.367040	0.04535	N	0.387016	T	0.37544	0.1007	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.08973	-1.0696	9	.	.	.	.	1.017	0.01509	0.4229:0.11:0.2542:0.213	.	2819;2852	Q01484;Q01484-4	ANK2_HUMAN;.	R	2852;2819	ENSP00000349588:H2852R;ENSP00000264366:H2819R	.	H	+	2	0	ANK2	114497778	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.119000	0.10676	-0.452000	0.07087	0.528000	0.53228	CAT	ANK2	-	NULL	ENSG00000145362		0.388	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	51	0.00	0	A	NM_001148		114278329	114278329	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	39	55.17	48	SNP	0.000	G
ANKRD18B	441459	genome.wustl.edu	37	9	33568789	33568789	+	Silent	SNP	T	T	G	rs10971566	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:33568789T>G	ENST00000290943.6	+	15	2985	c.2889T>G	c.(2887-2889)ctT>ctG	p.L963L	ANKRD18B_ENST00000426460.2_3'UTR	NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	963										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TTGAAAATCTTAATAGTATAG	0.393													.|||	1000	0.199681	0.0454	0.2695	5008	,	,		16912	0.2143		0.3161	False		,,,				2504	0.2239					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.2889T>G	9.37:g.33568789T>G				Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L963	ENST00000290943.6	37	c.2889		9																																																																																			ANKRD18B	-	pfam_DUF3496	ENSG00000230453		0.393	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	30	0.00	0	T	XM_001718334		33568789	33568789	+1	no_errors	ENST00000290943	ensembl	human	known	69_37n	silent	68	43.33	52	SNP	0.014	G
ANKRD20A8P	729171	genome.wustl.edu	37	2	95483038	95483039	+	RNA	INS	-	-	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:95483038_95483039insT	ENST00000432432.2	-	0	1488_1489					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATTCTTCTCTATTTTTTTTGTA	0.277																																						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.95483046_95483046dupT			A6NC18	RNA	INS	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			ANKRD20A8P	-	-	ENSG00000229089		0.277	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1	19	0.00	0	-			95483038	95483039	-1	no_errors	ENST00000432432	ensembl	human	known	69_37n	rna	14	48.15	13	INS	0.185:0.232	T
ANKRD30B	374860	genome.wustl.edu	37	18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	rs9675365	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					dbGAP											2	Substitution - Missense(2)	prostate(2)											167.0	153.0	157.0					18																	14779969		692	1591	2283	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F477L	ENST00000358984.4	37	c.1431	CCDS54182.1	18	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC	ANKRD30B	-	NULL	ENSG00000180777		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	122	0.00	0	C	NM_001145029		14779969	14779969	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	262	29.76	111	SNP	0.000	G
ANKRD30B	374860	genome.wustl.edu	37	18	14850375	14850375	+	Silent	SNP	G	G	A	rs3126404	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr18:14850375G>A	ENST00000358984.4	+	35	3381	c.3201G>A	c.(3199-3201)ttG>ttA	p.L1067L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1067										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAAGTAATTTGAATCAGGTAA	0.303													G|||	2366	0.472444	0.5408	0.4251	5008	,	,		14547	0.4157		0.5149	False		,,,				2504	0.4284					dbGAP											0													34.0	34.0	34.0					18																	14850375		692	1568	2260	-	-	-	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3201G>A	18.37:g.14850375G>A			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1067	ENST00000358984.4	37	c.3201	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.303	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	48	0.00	0	G	NM_001145029		14850375	14850375	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	silent	74	32.73	36	SNP	0.710	A
ANKRD31	256006	genome.wustl.edu	37	5	74442410	74442410	+	Silent	SNP	G	G	A	rs1422699	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:74442410G>A	ENST00000274361.3	-	14	3017	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	ANKRD31_ENST00000506364.2_Silent_p.F942F|ANKRD31_ENST00000504022.1_Intron	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	942										endometrium(1)|kidney(4)	5						AAAACTGTTGGAAACCCATTT	0.333													A|||	2930	0.585064	0.8986	0.4193	5008	,	,		18103	0.4752		0.3867	False		,,,				2504	0.5961					dbGAP											0													22.0	23.0	23.0					5																	74442410		692	1588	2280	-	-	-	SO:0001819	synonymous_variant	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.2826C>T	5.37:g.74442410G>A				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F942	ENST00000274361.3	37	c.2826		5																																																																																			ANKRD31	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145700		0.333	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		35	0.00	0	G	NM_001164443		74442410	74442410	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	silent	0	100.00	86	SNP	0.335	A
ANKRD31	256006	genome.wustl.edu	37	5	74506658	74506658	+	Silent	SNP	C	C	T	rs2219745	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:74506658C>T	ENST00000274361.3	-	4	512	c.321G>A	c.(319-321)ctG>ctA	p.L107L	ANKRD31_ENST00000506364.2_Silent_p.L107L	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	107								p.L107L(2)		endometrium(1)|kidney(4)	5						CTTACTGTAACAGAGCTTGAT	0.274													C|||	1296	0.258786	0.2126	0.2291	5008	,	,		16221	0.1925		0.2455	False		,,,				2504	0.4243					dbGAP											2	Substitution - coding silent(2)	kidney(2)											201.0	171.0	180.0					5																	74506658		692	1588	2280	-	-	-	SO:0001819	synonymous_variant	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.321G>A	5.37:g.74506658C>T				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L107	ENST00000274361.3	37	c.321		5																																																																																			ANKRD31	-	NULL	ENSG00000145700		0.274	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		116	0.00	0	C	NM_001164443		74506658	74506658	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	silent	184	58.84	263	SNP	0.728	T
ANKRD33	341405	genome.wustl.edu	37	12	52283229	52283229	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:52283229G>A	ENST00000340970.4	+	4	566	c.195G>A	c.(193-195)ggG>ggA	p.G65G	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000301190.6_Silent_p.G200G|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	65					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACCAGCGGGGGCTCACGGCGT	0.652																																						dbGAP											0													48.0	47.0	47.0					12																	52283229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.195G>A	12.37:g.52283229G>A			Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G65	ENST00000340970.4	37	c.195	CCDS44892.1	12																																																																																			ANKRD33	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167612		0.652	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	HGNC	protein_coding	OTTHUMT00000404515.1	14	0.00	0	G	NM_182608		52283229	52283229	+1	no_errors	ENST00000340970	ensembl	human	known	69_37n	silent	5	78.26	18	SNP	0.979	A
ANKRD36C	400986	genome.wustl.edu	37	2	96546352	96546352	+	Silent	SNP	G	G	A	rs189877528	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:96546352G>A	ENST00000456556.1	-	57	3471	c.3387C>T	c.(3385-3387)ccC>ccT	p.P1129P	ANKRD36C_ENST00000295246.5_Silent_p.P550P|ANKRD36C_ENST00000419039.2_Silent_p.P156P|ANKRD36C_ENST00000420871.2_Silent_p.P380P			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1129							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CCTTCAAGGTGGGCAGATTCT	0.303													.|||	88	0.0175719	0.0008	0.0389	5008	,	,		19872	0.0		0.0547	False		,,,				2504	0.0051					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.3387C>T	2.37:g.96546352G>A			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.P1129	ENST00000456556.1	37	c.3387		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.303	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	49	0.00	0	G	NM_001010914		96546352	96546352	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	silent	159	51.52	169	SNP	0.954	A
ANKRD36C	400986	genome.wustl.edu	37	2	96548068	96548068	+	Missense_Mutation	SNP	C	C	T	rs11695514	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:96548068C>T	ENST00000456556.1	-	56	3433	c.3349G>A	c.(3349-3351)Ggt>Agt	p.G1117S	ANKRD36C_ENST00000295246.5_Missense_Mutation_p.G538S|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.G144S|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.G368S			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1117				G -> S (in Ref. 1; CAH56324/CAI46156 and 3; AK123626). {ECO:0000305}.			ion channel inhibitor activity (GO:0008200)	p.G368S(4)|p.G538S(2)|p.G1117S(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GATTTCCAACCGCCCGTTATT	0.348													.|||	1398	0.279153	0.1029	0.3934	5008	,	,		18851	0.4613		0.3121	False		,,,				2504	0.2147					dbGAP											8	Substitution - Missense(8)	endometrium(4)|kidney(4)																																								-	-	-	SO:0001583	missense	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.3349G>A	2.37:g.96548068C>T	ENSP00000403302:p.Gly1117Ser		C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1117S	ENST00000456556.1	37	c.3349		2	720	0.32967032967032966	63	0.12804878048780488	127	0.35082872928176795	289	0.5052447552447552	241	0.3179419525065963	c	0.069	-1.205776	0.01568	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039;ENST00000295246	T;T;T;T	0.35048	3.97;1.33;3.98;1.96	0.866	-0.146	0.13432	.	.	.	.	.	T	0.00012	0.0000	M	0.64404	1.975	0.80722	P	0.0	P	0.42735	0.788	B	0.31245	0.126	T	0.48115	-0.9063	8	0.20046	T	0.44	.	3.3266	0.07068	0.0:0.6812:0.0:0.3188	rs11695514;rs56505681;rs11695514	1117	Q5JPF3	AN36C_HUMAN	S	368;1117;144;538	ENSP00000415231:G368S;ENSP00000403302:G1117S;ENSP00000407838:G144S;ENSP00000295246:G538S	ENSP00000295246:G538S	G	-	1	0	AC073995.2	95911795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.291000	0.02775	-0.057000	0.13199	0.298000	0.19748	GGT	ANKRD36C	-	NULL	ENSG00000174501		0.348	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	124	0.00	0	C	NM_001010914		96548068	96548068	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	missense	339	40.84	234	SNP	0.000	T
ANKRD36C	400986	genome.wustl.edu	37	2	96563206	96563206	+	Intron	SNP	A	A	T	rs4907220	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:96563206A>T	ENST00000456556.1	-	44	2840				ANKRD36C_ENST00000295246.5_Silent_p.S240S|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_Silent_p.S70S			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C								ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GTGGTTGCTCAGAAGACACTG	0.318													.|||	1367	0.272963	0.1051	0.3833	5008	,	,		17086	0.4583		0.2903	False		,,,				2504	0.2127					dbGAP											0																																										-	-	-	SO:0001627	intron_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.2755+1686T>A	2.37:g.96563206A>T			C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	NULL	p.S70	ENST00000456556.1	37	c.210		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	122	0.00	0	A	NM_001010914		96563206	96563206	-1	no_start_codon:no_stop_codon	ENST00000420871	ensembl	human	known	69_37n	silent	224	28.12	88	SNP	0.019	T
ANKRD36C	400986	genome.wustl.edu	37	2	96581911	96581911	+	Missense_Mutation	SNP	G	G	A	rs188178234	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:96581911G>A	ENST00000456556.1	-	37	2440	c.2356C>T	c.(2356-2358)Cgg>Tgg	p.R786W	ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	786							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GGTTTTTTCCGAGAAGACACT	0.343													.|||	22	0.00439297	0.0	0.0101	5008	,	,		21913	0.0		0.0089	False		,,,				2504	0.0061					dbGAP											0																																										-	-	-	SO:0001583	missense	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.2356C>T	2.37:g.96581911G>A	ENSP00000403302:p.Arg786Trp		C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R786W	ENST00000456556.1	37	c.2356		2	7	0.003205128205128205	0	0.0	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	N	9.259	1.042694	0.19748	.	.	ENSG00000174501	ENST00000456556	T	0.78481	-1.18	0.36	-0.72	0.11195	.	.	.	.	.	T	0.63965	0.2556	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.60642	-0.7223	5	0.87932	D	0	.	.	.	.	.	.	.	.	W	786	ENSP00000403302:R786W	ENSP00000403302:R786W	R	-	1	2	AC073995.2	95945638	0.008000	0.16893	0.001000	0.08648	0.012000	0.07955	0.487000	0.22356	-0.710000	0.05001	0.175000	0.17021	CGG	ANKRD36C	-	NULL	ENSG00000174501		0.343	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	184	0.54	1	G	NM_001010914		96581911	96581911	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	missense	214	53.26	245	SNP	0.002	A
ANKRD40	91369	genome.wustl.edu	37	17	48777151	48777151	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:48777151G>A	ENST00000285243.6	-	3	656	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	129										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AGATAAAAGGGAAGGCTGGGT	0.527																																						dbGAP											0													54.0	55.0	55.0					17																	48777151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.387C>T	17.37:g.48777151G>A			Q96E32	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F129	ENST00000285243.6	37	c.387	CCDS11572.1	17																																																																																			ANKRD40	-	NULL	ENSG00000154945		0.527	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	HGNC	protein_coding	OTTHUMT00000368201.2	148	0.00	0	G	NM_052855		48777151	48777151	-1	no_errors	ENST00000285243	ensembl	human	known	69_37n	silent	40	43.66	31	SNP	1.000	A
ANO7	50636	genome.wustl.edu	37	2	242163556	242163556	+	Missense_Mutation	SNP	G	G	T	rs544846502|rs563055493		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:242163556G>T	ENST00000274979.8	+	25	2893	c.2790G>T	c.(2788-2790)caG>caT	p.Q930H		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	930					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGCCAGCCAGCTGCAGCAGT	0.647																																						dbGAP											0													65.0	54.0	57.0					2																	242163556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2790G>T	2.37:g.242163556G>T	ENSP00000274979:p.Gln930His		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.Q930H	ENST00000274979.8	37	c.2790	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	7.318	0.616448	0.14129	.	.	ENSG00000146205	ENST00000274979	T	0.69561	-0.41	1.23	-2.46	0.06461	.	.	.	.	.	T	0.38585	0.1046	N	0.14661	0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.14924	-1.0455	9	0.17832	T	0.49	.	2.15	0.03797	0.2574:0.0:0.3011:0.4414	.	930	Q6IWH7	ANO7_HUMAN	H	930	ENSP00000274979:Q930H	ENSP00000274979:Q930H	Q	+	3	2	ANO7	241812229	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-1.658000	0.01977	-0.913000	0.03832	0.313000	0.20887	CAG	ANO7	-	NULL	ENSG00000146205		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	52	0.00	0	G	NM_001001891		242163556	242163556	+1	no_errors	ENST00000274979	ensembl	human	known	69_37n	missense	8	68.00	17	SNP	0.000	T
ANPEP	290	genome.wustl.edu	37	15	90333768	90333770	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:90333768_90333770delCAT	ENST00000300060.6	-	20	2985_2987	c.2672_2674delATG	c.(2671-2676)tatggt>tgt	p.891_892YG>C		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	891	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GAGCCACCACCATAACTGCAGGG	0.547																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2672_2674delATG	15.37:g.90333768_90333770delCAT	ENSP00000300060:p.Tyr891_Gly892delinsCys		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	In_Frame_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.YG891in_frame_delC	ENST00000300060.6	37	c.2674_2672	CCDS10356.1	15																																																																																			ANPEP	-	NULL	ENSG00000166825		0.547	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	42	0.00	0	CAT			90333768	90333770	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	in_frame_del	30	40.38	21	DEL	0.998:0.814:0.906	-
AOC2	314	genome.wustl.edu	37	17	40997785	40997785	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:40997785G>A	ENST00000253799.3	+	1	1169	c.1142G>A	c.(1141-1143)aGc>aAc	p.S381N	AOC2_ENST00000452774.2_Missense_Mutation_p.S381N	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	381					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TATTTGGATAGCAGCTTTGGA	0.532																																						dbGAP											0													99.0	95.0	96.0					17																	40997785		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1142G>A	17.37:g.40997785G>A	ENSP00000253799:p.Ser381Asn		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.S381N	ENST00000253799.3	37	c.1142	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523143	0.44866	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03717	3.83;3.83	5.52	5.52	0.82312	Copper amine oxidase, C-terminal (3);	0.311244	0.36101	N	0.002792	T	0.13030	0.0316	M	0.64170	1.965	0.34582	D	0.714608	P;P	0.41188	0.741;0.696	P;P	0.53809	0.735;0.617	T	0.00872	-1.1532	10	0.72032	D	0.01	-44.5825	15.7549	0.78015	0.0:0.1366:0.8634:0.0	.	381;381	O75106;O75106-2	AOC2_HUMAN;.	N	381	ENSP00000253799:S381N;ENSP00000406134:S381N	ENSP00000253799:S381N	S	+	2	0	AOC2	38251311	1.000000	0.71417	0.546000	0.28166	0.337000	0.28794	4.604000	0.61112	2.597000	0.87782	0.543000	0.68304	AGC	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131480		0.532	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	18	0.00	0	G	NM_009590, NM_001158		40997785	40997785	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	missense	29	60.00	45	SNP	0.912	A
AP5Z1	9907	genome.wustl.edu	37	7	4820890	4820890	+	Silent	SNP	C	C	A	rs146682319	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:4820890C>A	ENST00000348624.4	+	2	220	c.126C>A	c.(124-126)ctC>ctA	p.L42L	AP5Z1_ENST00000401897.1_Silent_p.L42L	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	42					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)											CGGACACCCTCGACTCCCTGC	0.607																																						dbGAP											0													46.0	54.0	51.0					7																	4820890		2071	4224	6295	-	-	-	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.126C>A	7.37:g.4820890C>A			Q8N3X2|Q96H80	Silent	SNP	NULL	p.L42	ENST00000348624.4	37	c.126	CCDS47528.1	7																																																																																			AP5Z1	-	NULL	ENSG00000242802		0.607	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	32	0.00	0	C			4820890	4820890	+1	no_errors	ENST00000348624	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	0.000	A
APBA3	9546	genome.wustl.edu	37	19	3751444	3751444	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:3751444C>T	ENST00000316757.3	-	9	1703	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	501	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCCTCCACGCAGAAGC	0.731																																						dbGAP											0													24.0	22.0	23.0					19																	3751444		2151	4231	6382	-	-	-	SO:0001819	synonymous_variant	0			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1503G>A	19.37:g.3751444C>T			O60483|Q9UPZ2	Silent	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.V501	ENST00000316757.3	37	c.1503	CCDS12110.1	19																																																																																			APBA3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000011132		0.731	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	HGNC	protein_coding	OTTHUMT00000453634.2	22	0.00	0	C			3751444	3751444	-1	no_errors	ENST00000316757	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	1.000	T
APOL2	23780	genome.wustl.edu	37	22	36629466	36629466	+	5'UTR	SNP	T	T	A	rs2010499	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:36629466T>A	ENST00000249066.6	-	0	379				APOL2_ENST00000451256.2_Missense_Mutation_p.E80V|APOL2_ENST00000358502.5_5'UTR	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						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						AGCTTCCTCTTCCCTCACTCT	0.502													N|||	854	0.170527	0.1573	0.1902	5008	,	,		20355	0.001		0.327	False		,,,				2504	0.1881					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_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.-98A>T	22.37:g.36629466T>A			B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	pfam_ApoL	p.E80V	ENST00000249066.6	37	c.239	CCDS43014.1	22	405	0.18543956043956045	72	0.14634146341463414	79	0.21823204419889503	0	0.0	254	0.33509234828496043	T	8.766	0.924761	0.18056	.	.	ENSG00000128335	ENST00000451256	T	0.04502	3.61	1.58	0.535	0.17133	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.53688	P	2.199999999996649E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	7	0.72032	D	0.01	.	5.1721	0.15116	0.0:0.0:0.6548:0.3452	rs2010499;rs17732764;rs52810247;rs2010499	80	B4E1T5	.	V	80	ENSP00000403153:E80V	ENSP00000403153:E80V	E	-	2	0	APOL2	34959412	0.006000	0.16342	0.522000	0.27862	0.194000	0.23727	0.050000	0.14120	0.225000	0.20959	-0.523000	0.04350	GAA	APOL2	-	NULL	ENSG00000128335		0.502	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	21	0.00	0	T	NM_145637		36629466	36629466	-1	no_errors	ENST00000451256	ensembl	human	putative	69_37n	missense	4	50.00	4	SNP	0.631	A
APOL2	23780	genome.wustl.edu	37	22	36633107	36633107	+	Intron	SNP	C	C	A	rs5995267	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:36633107C>A	ENST00000249066.6	-	2	344				APOL2_ENST00000451256.2_Splice_Site_p.R68M|APOL2_ENST00000476579.1_5'UTR|APOL2_ENST00000358502.5_Intron	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						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						GGCCTCGGACCTGCCCAATAC	0.612													N|||	400	0.0798722	0.1293	0.1772	5008	,	,		18468	0.0357		0.0229	False		,,,				2504	0.0481					dbGAP											0																																										-	-	-	SO:0001627	intron_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.132+2379G>T	22.37:g.36633107C>A			B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	pfam_ApoL	p.R68M	ENST00000249066.6	37	c.203	CCDS43014.1	22	150	0.06868131868131869	66	0.13414634146341464	48	0.13259668508287292	20	0.03496503496503497	16	0.021108179419525065	A	6.828	0.521859	0.13005	.	.	ENSG00000128335	ENST00000451256	T	0.05925	3.37	1.1	-0.187	0.13268	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48127	-0.9062	7	0.18276	T	0.48	.	5.5174	0.16914	0.3928:0.6072:0.0:0.0	rs5995267	68	B4E1T5	.	M	68	ENSP00000403153:R68M	ENSP00000403153:R68M	R	-	2	0	APOL2	34963053	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.343000	0.00504	-0.674000	0.05253	-1.148000	0.01847	AGG	APOL2	-	NULL	ENSG00000128335		0.612	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	16	0.00	0	C	NM_145637		36633107	36633107	-1	no_errors	ENST00000451256	ensembl	human	putative	69_37n	missense	5	64.29	9	SNP	0.000	A
APPL2	55198	genome.wustl.edu	37	12	105583877	105583877	+	Missense_Mutation	SNP	G	G	A	rs2272495	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:105583877G>A	ENST00000258530.3	-	15	1523	c.1298C>T	c.(1297-1299)gCa>gTa	p.A433V	APPL2_ENST00000551662.1_Missense_Mutation_p.A439V|APPL2_ENST00000539978.2_Missense_Mutation_p.A390V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACTGGCTGTTGCTTTGGGAAC	0.423													G|||	938	0.1873	0.1044	0.2464	5008	,	,		20710	0.2599		0.1869	False		,,,				2504	0.183					dbGAP											0													118.0	109.0	112.0					12																	105583877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1298C>T	12.37:g.105583877G>A	ENSP00000258530:p.Ala433Val		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.A439V	ENST00000258530.3	37	c.1316	CCDS9101.1	12	418	0.19139194139194138	50	0.1016260162601626	84	0.23204419889502761	150	0.26223776223776224	134	0.17678100263852242	G	12.58	1.981480	0.34942	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.23348	2.71;1.91;2.49	5.46	4.51	0.55191	.	0.502179	0.22067	N	0.065091	T	0.00012	0.0000	N	0.22421	0.69	0.80722	P	0.0	B;B;B	0.20261	0.043;0.025;0.025	B;B;B	0.24541	0.054;0.015;0.022	T	0.28106	-1.0054	9	0.33141	T	0.24	-10.4262	8.5015	0.33161	0.0:0.1206:0.5073:0.3722	rs2272495;rs17853203;rs56646590;rs60975777;rs2272495	439;390;433	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	V	433;390;439	ENSP00000258530:A433V;ENSP00000444472:A390V;ENSP00000446917:A439V	ENSP00000258530:A433V	A	-	2	0	APPL2	104108007	0.020000	0.18652	0.027000	0.17364	0.024000	0.10985	1.438000	0.35002	2.557000	0.86248	0.563000	0.77884	GCA	APPL2	-	NULL	ENSG00000136044		0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	74	0.00	0	G	NM_018171		105583877	105583877	-1	no_errors	ENST00000551662	ensembl	human	known	69_37n	missense	143	35.87	80	SNP	0.003	A
AQP12A	375318	genome.wustl.edu	37	2	241631413	241631413	+	Missense_Mutation	SNP	T	T	G	rs71428454	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:241631413T>G	ENST00000337801.4	+	1	152	c.83T>G	c.(82-84)cTg>cGg	p.L28R	AQP12A_ENST00000429564.1_Missense_Mutation_p.L28R|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	28						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCCAAGGCCCTGCTCCCAGTG	0.692													t|||	1001	0.19988	0.1989	0.3242	5008	,	,		17103	0.0357		0.3519	False		,,,				2504	0.1258					dbGAP											0													40.0	47.0	45.0					2																	241631413		2180	4285	6465	-	-	-	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.83T>G	2.37:g.241631413T>G	ENSP00000337144:p.Leu28Arg			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.L28R	ENST00000337801.4	37	c.83		2	457|457	0.20924908424908426|0.20924908424908426	95|95	0.19308943089430894|0.19308943089430894	110|110	0.30386740331491713|0.30386740331491713	18|18	0.03146853146853147|0.03146853146853147	234|234	0.3087071240105541|0.3087071240105541	.|.	3.061|3.061	-0.193201|-0.193201	0.06259|0.06259	.|.	.|.	ENSG00000184945|ENSG00000184945	ENST00000420599|ENST00000337801;ENST00000429564	.|T;T	.|0.11385	.|2.78;2.78	2.43|2.43	2.43|2.43	0.29744|0.29744	.|.	.|0.166965	.|0.42682	.|D	.|0.000664	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.25432|0.25432	P|P	0.9881739|0.9881739	.|D	.|0.67145	.|0.996	.|P	.|0.57548	.|0.823	T|T	0.38457|0.38457	-0.9660|-0.9660	5|9	0.87932|0.66056	D|D	0|0.02	-20.1652|-20.1652	8.4076|8.4076	0.32625|0.32625	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|28	.|Q8IXF9	.|AQ12A_HUMAN	G|R	1|28	.|ENSP00000337144:L28R;ENSP00000405899:L28R	ENSP00000399666:C1G|ENSP00000337144:L28R	C|L	+|+	1|2	0|0	AQP12A|AQP12A	241280086|241280086	0.134000|0.134000	0.22483|0.22483	0.878000|0.878000	0.34440|0.34440	0.334000|0.334000	0.28698|0.28698	1.538000|1.538000	0.36094|0.36094	1.134000|1.134000	0.42165|0.42165	0.156000|0.156000	0.16432|0.16432	TGC|CTG	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	28	0.00	0	T	NM_198998		241631413	241631413	+1	no_errors	ENST00000429564	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	0.987	G
AQP3	360	genome.wustl.edu	37	9	33442871	33442871	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:33442871C>A	ENST00000297991.4	-	4	551	c.471G>T	c.(469-471)atG>atT	p.M157I	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	157					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGCCATTGATCATATCCAAGT	0.572																																						dbGAP											0													190.0	182.0	185.0					9																	33442871		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.471G>T	9.37:g.33442871C>A	ENSP00000297991:p.Met157Ile		A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_Aquaporin	p.M157I	ENST00000297991.4	37	c.471	CCDS6542.1	9	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761476	0.31228	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	D	0.84800	-1.9	5.91	4.96	0.65561	Aquaporin-like (2);	0.304235	0.38217	N	0.001776	T	0.60702	0.2289	N	0.01188	-0.97	0.33151	D	0.545643	B;B	0.17852	0.024;0.0	B;B	0.09377	0.004;0.001	T	0.63422	-0.6641	10	0.25106	T	0.35	-0.1778	8.6621	0.34099	0.2502:0.5286:0.2212:0.0	.	157;157	C9JAH5;Q92482	.;AQP3_HUMAN	I	157	ENSP00000297991:M157I	ENSP00000297991:M157I	M	-	3	0	AQP3	33432871	0.168000	0.22989	1.000000	0.80357	0.979000	0.70002	0.546000	0.23284	2.793000	0.96121	0.655000	0.94253	ATG	AQP3	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_Aquaporin	ENSG00000165272		0.572	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1	82	0.00	0	C	NM_004925		33442871	33442871	-1	no_errors	ENST00000297991	ensembl	human	known	69_37n	missense	31	53.03	35	SNP	0.988	A
ARHGEF2	9181	genome.wustl.edu	37	1	155927620	155927620	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:155927620G>A	ENST00000361247.4	-	13	1698	c.1599C>T	c.(1597-1599)aaC>aaT	p.N533N	ARHGEF2_ENST00000313667.4_Silent_p.N532N|ARHGEF2_ENST00000368315.4_Silent_p.N534N|ARHGEF2_ENST00000313695.7_Silent_p.N505N|ARHGEF2_ENST00000368316.1_Silent_p.N505N|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Silent_p.N578N	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	533	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTTCTCCTGGTTGGCAATGT	0.552																																					Melanoma(178;35 2768 6610 28839)	dbGAP											0													121.0	82.0	95.0					1																	155927620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1599C>T	1.37:g.155927620G>A			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,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.N534	ENST00000361247.4	37	c.1602	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000116584		0.552	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	20	0.00	0	G	NM_004723		155927620	155927620	-1	no_errors	ENST00000368315	ensembl	human	known	69_37n	silent	16	48.39	15	SNP	1.000	A
ARHGEF26	26084	genome.wustl.edu	37	3	153958243	153958243	+	Silent	SNP	T	T	C	rs546786509	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:153958243T>C	ENST00000356448.4	+	12	2459	c.2175T>C	c.(2173-2175)tcT>tcC	p.S725S	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.S725S|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	725	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTAATTCTTCTCCAGGGAAGA	0.423													T|||	12	0.00239617	0.0	0.0	5008	,	,		20394	0.0		0.0	False		,,,				2504	0.0123				GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	dbGAP											0													78.0	74.0	76.0					3																	153958243		1900	4121	6021	-	-	-	SO:0001819	synonymous_variant	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2175T>C	3.37:g.153958243T>C			B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,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.S725	ENST00000356448.4	37	c.2175	CCDS46938.1	3																																																																																			ARHGEF26	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000114790		0.423	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	32	0.00	0	T	NM_015595		153958243	153958243	+1	no_errors	ENST00000356448	ensembl	human	known	69_37n	silent	88	44.03	70	SNP	0.998	C
ARHGEF39	84904	genome.wustl.edu	37	9	35663228	35663228	+	Intron	SNP	G	G	C	rs10814266	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:35663228G>C	ENST00000378387.3	-	5	662				ARHGEF39_ENST00000378395.2_Intron|ARHGEF39_ENST00000490970.1_Intron|ARHGEF39_ENST00000343259.3_Intron	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39						positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GTGGAAGATAGGGTCATACCA	0.498													G|||	1606	0.320687	0.0779	0.4107	5008	,	,		22274	0.4325		0.3579	False		,,,				2504	0.4315					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.544+90C>G	9.37:g.35663228G>C			Q49AG0|Q6TPQ2|Q96ST6	RNA	SNP	-	NULL	ENST00000378387.3	37	NULL	CCDS6584.2	9																																																																																			ARHGEF39	-	-	ENSG00000137135		0.498	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF39	HGNC	protein_coding	OTTHUMT00000052330.1	84	0.00	0	G	NM_032818		35663228	35663228	-1	no_errors	ENST00000468876	ensembl	human	known	69_37n	rna	19	51.22	21	SNP	0.003	C
ARHGEF5	7984	genome.wustl.edu	37	7	144060286	144060286	+	Missense_Mutation	SNP	A	A	G	rs62485525	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:144060286A>G	ENST00000056217.5	+	2	698	c.524A>G	c.(523-525)gAt>gGt	p.D175G	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	175					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)					ACCTCTTCAGATAACTCTGGT	0.493																																						dbGAP											0													23.0	27.0	26.0					7																	144060286		2081	4132	6213	-	-	-	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.524A>G	7.37:g.144060286A>G	ENSP00000056217:p.Asp175Gly		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.D175G	ENST00000056217.5	37	c.524	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	A	8.696	0.908649	0.17833	.	.	ENSG00000050327	ENST00000056217	T	0.73681	-0.77	4.19	-1.77	0.07982	.	0.733032	0.11150	U	0.594205	T	0.61274	0.2334	L	0.52573	1.65	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.45948	-0.9226	9	.	.	.	.	5.147	0.14991	0.5023:0.3055:0.1922:0.0	.	175	Q12774	ARHG5_HUMAN	G	175	ENSP00000056217:D175G	.	D	+	2	0	ARHGEF5	143691219	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.388000	0.07352	-0.117000	0.11872	0.454000	0.30748	GAT	ARHGEF5	-	NULL	ENSG00000050327		0.493	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	123	0.81	1	A	NM_005435		144060286	144060286	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	missense	0	100.00	54	SNP	0.000	G
ARHGEF5	7984	genome.wustl.edu	37	7	144060668	144060668	+	Silent	SNP	C	C	T	rs543899386		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:144060668C>T	ENST00000056217.5	+	2	1080	c.906C>T	c.(904-906)gaC>gaT	p.D302D	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	302					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)					GTCTGAATGACGGTGAGTGGG	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		24885	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													2.0	2.0	2.0					7																	144060668		909	1886	2795	-	-	-	SO:0001819	synonymous_variant	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.906C>T	7.37:g.144060668C>T			A6NNJ2|Q6ZML7	Silent	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.D302	ENST00000056217.5	37	c.906	CCDS34771.1	7																																																																																			ARHGEF5	-	NULL	ENSG00000050327		0.547	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	155	0.00	0	C	NM_005435		144060668	144060668	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	silent	3	70.00	7	SNP	0.000	T
ARMC4	55130	genome.wustl.edu	37	10	28257852	28257852	+	Splice_Site	SNP	C	C	T	rs199740026	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:28257852C>T	ENST00000305242.5	-	9	1330	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000239715.3_Splice_Site_p.R270Q|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Splice_Site_p.R105Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	413					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGAAACATACCGAAGTAATTG	0.458													C|||	557	0.111222	0.1884	0.0836	5008	,	,		18036	0.003		0.1213	False		,,,				2504	0.1278					dbGAP											0													4.0	3.0	3.0					10																	28257852		1459	3081	4540	-	-	-	SO:0001630	splice_region_variant	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1238+1G>A	10.37:g.28257852C>T			A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.R413Q	ENST00000305242.5	37	c.1238	CCDS7157.1	10	261	0.11950549450549451	136	0.2764227642276423	36	0.09944751381215469	3	0.005244755244755245	86	0.11345646437994723	C	7.770	0.707261	0.15239	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	3.89	2.05	0.26809	.	1.074070	0.07060	N	0.833582	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	P	0.35628	0.513	B	0.21360	0.034	T	0.26052	-1.0114	8	.	.	.	-2.5181	6.1142	0.20117	0.0:0.7713:0.0:0.2287	.	413	Q5T2S8	ARMC4_HUMAN	Q	105;413;105;307;270	ENSP00000443208:R105Q;ENSP00000306410:R413Q;ENSP00000398155:R307Q;ENSP00000239715:R270Q	.	R	-	2	0	ARMC4	28297858	0.423000	0.25482	0.063000	0.19743	0.008000	0.06430	0.554000	0.23407	0.620000	0.30215	0.557000	0.71058	CGG	ARMC4	-	NULL	ENSG00000169126		0.458	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	36	0.00	0	C	NM_018076	Missense_Mutation	28257852	28257852	-1	no_errors	ENST00000305242	ensembl	human	known	69_37n	missense	1	98.44	63	SNP	0.073	T
ASCC3	10973	genome.wustl.edu	37	6	101215022	101215022	+	Splice_Site	SNP	T	T	C	rs138701301	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:101215022T>C	ENST00000369162.2	-	9	1939	c.1595A>G	c.(1594-1596)aAg>aGg	p.K532R	ASCC3_ENST00000522650.1_Splice_Site_p.K532R	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	532	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTACTTACCTTAAATTCATT	0.299													T|||	9	0.00179712	0.0	0.0	5008	,	,		18608	0.0089		0.0	False		,,,				2504	0.0					dbGAP											0													94.0	90.0	92.0					6																	101215022		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1596+1A>G	6.37:g.101215022T>C			E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K532R	ENST00000369162.2	37	c.1595	CCDS5046.1	6	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	T	23.9	4.472702	0.84640	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.36699	1.24;1.24	5.08	5.08	0.68730	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.113064	0.64402	D	0.000015	T	0.50582	0.1624	M	0.68728	2.09	0.80722	D	1	B;D	0.89917	0.405;1.0	B;D	0.97110	0.292;1.0	T	0.56823	-0.7915	10	0.87932	D	0	.	15.185	0.72993	0.0:0.0:0.0:1.0	.	532;532	E7EW23;Q8N3C0	.;HELC1_HUMAN	R	532	ENSP00000358159:K532R;ENSP00000430769:K532R	ENSP00000358159:K532R	K	-	2	0	ASCC3	101321743	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.655000	0.83696	2.060000	0.61445	0.472000	0.43445	AAG	ASCC3	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,pfscan_Helicase_ATP-bd	ENSG00000112249		0.299	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	88	0.00	0	T	NM_006828	Missense_Mutation	101215022	101215022	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	missense	147	47.50	133	SNP	1.000	C
ASMTL	8623	genome.wustl.edu	37	X	1531838	1531838	+	Intron	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:1531838A>G	ENST00000381317.3	-	12	1555				ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000416733.2_Intron|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Intron|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL_ENST00000534940.1_Intron	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CGCATCCTAAATCAGGGACAG	0.537													a|||	2047	0.408746	0.4365	0.415	5008	,	,		16440	0.372		0.4205	False		,,,				2504	0.3926					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1523-91T>C	X.37:g.1531838A>G			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	RNA	SNP	-	NULL	ENST00000381317.3	37	NULL	CCDS43917.1	X																																																																																			ASMTL-AS1	-	-	ENSG00000236017		0.537	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL-AS1	HGNC	protein_coding	OTTHUMT00000055595.1	20	0.00	0	A	NM_004192		1531838	1531838	+1	no_errors	ENST00000420411	ensembl	human	known	69_37n	rna	7	72.00	18	SNP	0.000	G
ASMTL	8623	genome.wustl.edu	37	X	1531962	1531962	+	Intron	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:1531962G>C	ENST00000381317.3	-	12	1555				ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000416733.2_Intron|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Intron|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL_ENST00000534940.1_Intron	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				GGTTTGACTCGGGCTGAGAAA	0.572													g|||	2067	0.41274	0.4418	0.4107	5008	,	,		16483	0.371		0.4354	False		,,,				2504	0.3947					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1523-215C>G	X.37:g.1531962G>C			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	RNA	SNP	-	NULL	ENST00000381317.3	37	NULL	CCDS43917.1	X																																																																																			ASMTL-AS1	-	-	ENSG00000236017		0.572	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL-AS1	HGNC	protein_coding	OTTHUMT00000055595.1	10	0.00	0	G	NM_004192		1531962	1531962	+1	no_errors	ENST00000420411	ensembl	human	known	69_37n	rna	1	87.50	7	SNP	0.009	C
ASPG	374569	genome.wustl.edu	37	14	104570688	104570688	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:104570688C>T	ENST00000551177.1	+	8	893	c.801C>T	c.(799-801)acC>acT	p.T267T	ASPG_ENST00000455920.2_Silent_p.T267T|ASPG_ENST00000546892.2_Silent_p.T267T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	267	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TCATGGAGACCTTCGGTTCAG	0.677																																						dbGAP											0													39.0	47.0	44.0					14																	104570688		2089	4204	6293	-	-	-	SO:0001819	synonymous_variant	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.801C>T	14.37:g.104570688C>T			B9EGQ2|Q8IV80	Silent	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI	p.T267	ENST00000551177.1	37	c.801	CCDS45170.2	14																																																																																			ASPG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI	ENSG00000166183		0.677	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	25	0.00	0	C	NM_001080464		104570688	104570688	+1	no_errors	ENST00000455920	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.997	T
ATF6B	1388	genome.wustl.edu	37	6	32085658	32085658	+	Missense_Mutation	SNP	G	G	A	rs35104800	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32085658G>A	ENST00000375203.3	-	12	1434	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	ATF6B_ENST00000375201.4_Missense_Mutation_p.P465S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	468					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGTCTGTGGGGCTGGGCTGG	0.622																																						dbGAP											0													19.0	23.0	22.0					6																	32085658		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1402C>T	6.37:g.32085658G>A	ENSP00000364349:p.Pro468Ser		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.P468S	ENST00000375203.3	37	c.1402	CCDS4737.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.130|1.130	-0.652779|-0.652779	0.03480|0.03480	.|.	.|.	ENSG00000213676|ENSG00000213676	ENST00000453203|ENST00000375192;ENST00000375203;ENST00000375201	.|T;T	.|0.54279	.|0.58;1.32	5.87|5.87	-0.498|-0.498	0.12019|0.12019	.|.	0.690561|0.690561	0.11686|0.11686	U|N	0.539384|0.539384	T|T	0.11324|0.11324	0.0276|0.0276	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.002;0.002	T|T	0.23619|0.23619	-1.0183|-1.0183	6|10	.|0.23302	.|T	.|0.38	-0.0567|-0.0567	1.4211|1.4211	0.02312|0.02312	0.3115:0.1342:0.4165:0.1379|0.3115:0.1342:0.4165:0.1379	.|.	.|465;468;468	.|Q99941-2;Q99941;Q6AZW6	.|.;ATF6B_HUMAN;.	L|S	4|71;468;465	.|ENSP00000364349:P468S;ENSP00000364347:P465S	.|ENSP00000364338:P71S	P|P	-|-	2|1	0|0	ATF6B|ATF6B	32193636|32193636	0.036000|0.036000	0.19791|0.19791	0.028000|0.028000	0.17463|0.17463	0.012000|0.012000	0.07955|0.07955	0.005000|0.005000	0.13129|0.13129	-0.102000|-0.102000	0.12197|0.12197	0.655000|0.655000	0.94253|0.94253	CCC|CCC	ATF6B	-	NULL	ENSG00000213676		0.622	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	51	0.00	0	G			32085658	32085658	-1	no_errors	ENST00000375203	ensembl	human	known	69_37n	missense	14	57.58	19	SNP	0.022	A
ATG2B	55102	genome.wustl.edu	37	14	96809561	96809561	+	Silent	SNP	G	G	A	rs571011743	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:96809561G>A	ENST00000359933.4	-	5	1532	c.639C>T	c.(637-639)ccC>ccT	p.P213P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	213					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)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAAAAGCAGTGGGTTGATGCA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		13227	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													115.0	112.0	113.0					14																	96809561		1923	4127	6050	-	-	-	SO:0001819	synonymous_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.639C>T	14.37:g.96809561G>A			Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	pfam_Autophagy-rel_C	p.P213	ENST00000359933.4	37	c.639	CCDS9944.2	14																																																																																			ATG2B	-	NULL	ENSG00000066739		0.423	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	59	0.00	0	G	NM_018036		96809561	96809561	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	silent	68	52.45	75	SNP	0.989	A
ATP11A	23250	genome.wustl.edu	37	13	113510346	113510346	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:113510346C>T	ENST00000487903.1	+	20	2453	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	ATP11A_ENST00000283558.8_Missense_Mutation_p.R789W|ATP11A_ENST00000375645.3_Missense_Mutation_p.R789W|ATP11A_ENST00000375630.2_Missense_Mutation_p.R789W			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	789					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)				GGAAATCTGCCGGAGCTGCAG	0.597																																						dbGAP											0													77.0	85.0	83.0					13																	113510346		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.2365C>T	13.37:g.113510346C>T	ENSP00000420387:p.Arg789Trp		Q5VXT2	Missense_Mutation	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.R789W	ENST00000487903.1	37	c.2365	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921428	0.73213	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.39	2.16	0.27623	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.86651	2.83	0.53688	D	0.999977	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.68621	0.959;0.935;0.935	T	0.81854	-0.0741	10	0.59425	D	0.04	.	13.3177	0.60417	0.5554:0.4446:0.0:0.0	.	789;789;789	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	W	789;789;789;789;230	ENSP00000420387:R789W;ENSP00000364781:R789W;ENSP00000364796:R789W;ENSP00000283558:R789W	ENSP00000283558:R789W	R	+	1	2	ATP11A	112558347	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	1.390000	0.34464	0.554000	0.29061	0.561000	0.74099	CGG	ATP11A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000068650		0.597	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	15	0.00	0	C	NM_015205		113510346	113510346	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	missense	13	57.58	19	SNP	1.000	T
ATP8B5P	158381	genome.wustl.edu	37	9	35449924	35449924	+	RNA	SNP	A	A	G	rs372264145	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:35449924A>G	ENST00000430846.1	+	0	2774									ATPase, class I, type 8B, member 5, pseudogene																		TACCAGTTCAATGCACAGATG	0.408													A|||	25	0.00499201	0.0	0.0	5008	,	,		21235	0.0		0.001	False		,,,				2504	0.0245					dbGAP											0																																										-	-	-			0					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35449924A>G				RNA	SNP	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-	ENSG00000179766		0.408	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1	86	0.00	0	A	NR_003581.1		35449924	35449924	+1	no_errors	ENST00000430846	ensembl	human	known	69_37n	rna	77	53.89	90	SNP	0.001	G
ATR	545	genome.wustl.edu	37	3	142281651	142281651	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:142281651C>T	ENST00000350721.4	-	4	714	c.593G>A	c.(592-594)aGt>aAt	p.S198N	ATR_ENST00000383101.3_Missense_Mutation_p.S198N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	198					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						ATTTTGCATACTCATCAACTG	0.358								Other conserved DNA damage response genes																														dbGAP											0													66.0	68.0	67.0					3																	142281651		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.593G>A	3.37:g.142281651C>T	ENSP00000343741:p.Ser198Asn		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.S198N	ENST00000350721.4	37	c.593	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.613965	0.03690	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66995	-0.24;-0.24	5.78	2.8	0.32819	Armadillo-type fold (1);	0.382752	0.30142	N	0.010311	T	0.39253	0.1071	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29397	-1.0013	10	0.02654	T	1	-5.4216	6.4617	0.21960	0.0:0.5431:0.0:0.4569	.	198	Q13535	ATR_HUMAN	N	198	ENSP00000343741:S198N;ENSP00000372581:S198N	ENSP00000343741:S198N	S	-	2	0	ATR	143764341	0.952000	0.32445	0.066000	0.19879	0.225000	0.24961	0.604000	0.24164	0.252000	0.21531	0.591000	0.81541	AGT	ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	57	0.00	0	C	NM_001184		142281651	142281651	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	55	45.54	46	SNP	0.076	T
BACE2	25825	genome.wustl.edu	37	21	42598252	42598252	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr21:42598252C>T	ENST00000330333.6	+	2	835	c.372C>T	c.(370-372)tcC>tcT	p.S124S	BACE2_ENST00000328735.6_Silent_p.S124S|BACE2_ENST00000347667.5_Silent_p.S124S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	124					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCCCGCACTCCTACATAGACA	0.478																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.372C>T	21.37:g.42598252C>T			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1	p.S124	ENST00000330333.6	37	c.372	CCDS13668.1	21																																																																																			BACE2	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Pept_A1_BACE1	ENSG00000182240		0.478	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	27	0.00	0	C			42598252	42598252	+1	no_errors	ENST00000330333	ensembl	human	known	69_37n	silent	31	36.00	18	SNP	0.016	T
BAZ2B	29994	genome.wustl.edu	37	2	160176904	160176904	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:160176904G>C	ENST00000392783.2	-	37	6874	c.6379C>G	c.(6379-6381)Cta>Gta	p.L2127V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L2093V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L2027V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L2091V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2127	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						CTGACATCTAGAGCAAAGGTT	0.323																																						dbGAP											0													67.0	60.0	62.0					2																	160176904		1827	4080	5907	-	-	-	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.6379C>G	2.37:g.160176904G>C	ENSP00000376534:p.Leu2127Val		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.L2127V	ENST00000392783.2	37	c.6379	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	4.457	0.084594	0.08583	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.58	0.473	0.16763	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.29884	U	0.010952	T	0.11879	0.0289	N	0.00823	-1.155	0.36864	D	0.888577	B;B	0.12630	0.0;0.006	B;B	0.11329	0.0;0.006	T	0.06698	-1.0812	10	0.23302	T	0.38	-0.0164	20.6306	0.99525	0.0:0.6324:0.3676:0.0	.	2091;2127	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	2091;2127;2093;2027	ENSP00000376533:L2091V;ENSP00000376534:L2127V;ENSP00000348087:L2093V;ENSP00000339670:L2027V	ENSP00000339670:L2027V	L	-	1	2	BAZ2B	159885150	0.988000	0.35896	0.988000	0.46212	0.999000	0.98932	0.245000	0.18142	-0.229000	0.09854	0.655000	0.94253	CTA	BAZ2B	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000123636		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	33	0.00	0	G			160176904	160176904	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	85	48.48	80	SNP	0.990	C
BDP1	55814	genome.wustl.edu	37	5	70818170	70818170	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:70818170C>T	ENST00000358731.4	+	23	5309	c.5046C>T	c.(5044-5046)ttC>ttT	p.F1682F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1682					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGGAAATTCCAAAAGGCTA	0.373																																						dbGAP											0													139.0	138.0	138.0					5																	70818170		1851	4093	5944	-	-	-	SO:0001819	synonymous_variant	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5046C>T	5.37:g.70818170C>T			Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.F1682	ENST00000358731.4	37	c.5046	CCDS43328.1	5																																																																																			BDP1	-	NULL	ENSG00000145734		0.373	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	116	0.00	0	C	NM_018429		70818170	70818170	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	silent	66	25.00	22	SNP	0.993	T
BIRC5	332	genome.wustl.edu	37	17	76219783	76219783	+	Missense_Mutation	SNP	T	T	C	rs2239680	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:76219783T>C	ENST00000600484.1	-	5	496	c.497A>G	c.(496-498)aAg>aGg	p.K166R	BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000301633.4_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000374948.2_3'UTR																							AACTGTGCTCTTGTTTTGTCT	0.498													T|||	1090	0.217652	0.1513	0.1599	5008	,	,		21527	0.2639		0.2744	False		,,,				2504	0.2423					dbGAP											0													10.0	11.0	11.0					17																	76219783		2193	4280	6473	-	-	-	SO:0001583	missense	0																														ENST00000600484.1:c.497A>G	17.37:g.76219783T>C	ENSP00000473193:p.Lys166Arg			RNA	SNP	-	NULL	ENST00000600484.1	37	NULL		17																																																																																			BIRC5	-	-	ENSG00000089685		0.498	AC087645.1-201	NOVEL	basic|appris_principal	protein_coding	BIRC5	HGNC	protein_coding		37	0.00	0	T			76219783	76219783	+1	no_errors	ENST00000589892	ensembl	human	known	69_37n	rna	10	69.70	23	SNP	0.000	C
BMS1	9790	genome.wustl.edu	37	10	43312807	43312807	+	Silent	SNP	C	C	T	rs11239786	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:43312807C>T	ENST00000374518.5	+	15	2508	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	815					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAATTGACCCCGACGAAGAAG	0.313													C|||	1027	0.205072	0.0333	0.1167	5008	,	,		19710	0.4018		0.1988	False		,,,				2504	0.3037					dbGAP											0													18.0	19.0	19.0					10																	43312807		2179	4257	6436	-	-	-	SO:0001819	synonymous_variant	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2445C>T	10.37:g.43312807C>T			Q5QPT5|Q86XJ9	Silent	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN	p.P815	ENST00000374518.5	37	c.2445	CCDS7199.1	10																																																																																			BMS1	-	NULL	ENSG00000165733		0.313	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	49	0.00	0	C	NM_014753		43312807	43312807	+1	no_errors	ENST00000374518	ensembl	human	known	69_37n	silent	39	48.05	37	SNP	0.000	T
RP11-464F9.1	0	genome.wustl.edu	37	10	75487081	75487081	+	RNA	SNP	C	C	T	rs7099599	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:75487081C>T	ENST00000399449.3	-	0	396				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCTCTGATCTCGGTCAACTTC	0.517													.|||	674	0.134585	0.0893	0.1081	5008	,	,		17305	0.1587		0.1332	False		,,,				2504	0.1912					dbGAP											0																																										-	-	-			0																															10.37:g.75487081C>T				RNA	SNP	-	NULL	ENST00000399449.3	37	NULL		10																																																																																			RP11-464F9.1	-	-	ENSG00000242288		0.517	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	BMS1P4	Clone_based_vega_gene	processed_transcript	OTTHUMT00000048674.2	65	0.00	0	C			75487081	75487081	-1	no_errors	ENST00000399449	ensembl	human	known	69_37n	rna	13	63.89	23	SNP	1.000	T
BNC2	54796	genome.wustl.edu	37	9	16436122	16436122	+	Silent	SNP	G	G	A	rs145916043	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:16436122G>A	ENST00000380672.4	-	6	2127	c.2070C>T	c.(2068-2070)gaC>gaT	p.D690D	BNC2_ENST00000545497.1_Silent_p.D595D|BNC2_ENST00000380667.2_Silent_p.D623D|BNC2_ENST00000380666.2_Silent_p.D690D	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTTAGAAAAGTCCTTCACAG	0.493													G|||	7	0.00139776	0.0	0.0	5008	,	,		19817	0.0		0.0	False		,,,				2504	0.0072					dbGAP											0													117.0	110.0	112.0					9																	16436122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2070C>T	9.37:g.16436122G>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D690	ENST00000380672.4	37	c.2070	CCDS6482.2	9																																																																																			BNC2	-	NULL	ENSG00000173068		0.493	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	96	0.00	0	G	NM_017637		16436122	16436122	-1	no_errors	ENST00000380672	ensembl	human	known	69_37n	silent	40	47.37	36	SNP	1.000	A
BNIP3P1	319138	genome.wustl.edu	37	14	28733956	28733956	+	RNA	SNP	G	G	A	rs10145770	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:28733956G>A	ENST00000550043.1	+	0	361									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		CACTGTGACAGCCCACCTCGC	0.473													-|||	517	0.103235	0.0681	0.1081	5008	,	,		16131	0.0496		0.2087	False		,,,				2504	0.0941					dbGAP											0																																										-	-	-			0					14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733956G>A				RNA	SNP	-	NULL	ENST00000550043.1	37	NULL		14																																																																																			BNIP3P1	-	-	ENSG00000197358		0.473	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	149	0.00	0	G			28733956	28733956	+1	no_errors	ENST00000550043	ensembl	human	known	69_37n	rna	103	51.42	109	SNP	0.991	A
BPIFB3	359710	genome.wustl.edu	37	20	31659972	31659972	+	Splice_Site	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:31659972C>T	ENST00000375494.3	+	13	1323	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	441					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAAAGCTTAACGGTATGGCAG	0.517																																						dbGAP											0													159.0	112.0	128.0					20																	31659972		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1324+1C>T	20.37:g.31659972C>T			Q5TDX7	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.N441	ENST00000375494.3	37	c.1323	CCDS13212.1	20																																																																																			BPIFB3	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000186190		0.517	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	53	0.00	0	C	NM_182658	Silent	31659972	31659972	+1	no_errors	ENST00000375494	ensembl	human	known	69_37n	silent	48	35.14	26	SNP	0.956	T
BRCA2	675	genome.wustl.edu	37	13	32969049	32969049	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:32969049C>T	ENST00000380152.3	+	25	9713	c.9480C>T	c.(9478-9480)aaC>aaT	p.N3160N	BRCA2_ENST00000544455.1_Silent_p.N3160N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3160					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)		AGACATTCAACAAAATGAAAA	0.368			"""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													73.0	70.0	71.0					13																	32969049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.9480C>T	13.37:g.32969049C>T			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold-like	p.T146I	ENST00000380152.3	37	c.437	CCDS9344.1	13																																																																																			BRCA2	-	pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold-like	ENSG00000139618		0.368	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	87	0.00	0	C	NM_000059		32969049	32969049	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000470094	ensembl	human	known	69_37n	missense	129	28.33	51	SNP	1.000	T
BRWD1	54014	genome.wustl.edu	37	21	40569277	40569277	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr21:40569277G>A	ENST00000333229.2	-	41	6045	c.5718C>T	c.(5716-5718)gaC>gaT	p.D1906D	BRWD1_ENST00000342449.3_Silent_p.D1906D|BRWD1_ENST00000380800.3_Silent_p.D1906D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1906					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)				TACTGTCTGAGTCACTGGAAC	0.398																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													92.0	97.0	96.0					21																	40569277		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.5718C>T	21.37:g.40569277G>A			C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	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.D1906	ENST00000333229.2	37	c.5718	CCDS13662.1	21																																																																																			BRWD1	-	NULL	ENSG00000185658		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	46	0.00	0	G	NM_033656		40569277	40569277	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	silent	47	54.29	57	SNP	1.000	A
BSN	8927	genome.wustl.edu	37	3	49699083	49699083	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:49699083C>G	ENST00000296452.4	+	6	9919	c.9805C>G	c.(9805-9807)Cct>Gct	p.P3269A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3269					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)		AGGGAAGGAGCCTGGAGAACC	0.617																																						dbGAP											0													63.0	66.0	65.0					3																	49699083		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.9805C>G	3.37:g.49699083C>G	ENSP00000296452:p.Pro3269Ala		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.P3269A	ENST00000296452.4	37	c.9805	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853448	0.17106	.	.	ENSG00000164061	ENST00000296452	T	0.15952	2.38	5.33	4.38	0.52667	.	0.463226	0.22710	N	0.056588	T	0.06735	0.0172	N	0.08118	0	0.22684	N	0.998852	B	0.34015	0.435	B	0.24974	0.057	T	0.31024	-0.9958	10	0.11182	T	0.66	-3.7714	10.6171	0.45456	0.4138:0.5862:0.0:0.0	.	3269	Q9UPA5	BSN_HUMAN	A	3269	ENSP00000296452:P3269A	ENSP00000296452:P3269A	P	+	1	0	BSN	49674087	0.072000	0.21174	1.000000	0.80357	0.933000	0.57130	1.156000	0.31712	2.497000	0.84241	0.561000	0.74099	CCT	BSN	-	NULL	ENSG00000164061		0.617	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	11	0.00	0	C	NM_003458		49699083	49699083	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.847	G
BSPH1	100131137	genome.wustl.edu	37	19	48495304	48495304	+	Missense_Mutation	SNP	G	G	A	rs60213124	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:48495304G>A	ENST00000344839.3	-	1	123	c.35C>T	c.(34-36)aCg>aTg	p.T12M	ELSPBP1_ENST00000339841.2_5'Flank|ELSPBP1_ENST00000597519.1_5'Flank	NM_001128326.2	NP_001121798.1	Q075Z2	BSPH1_HUMAN	binder of sperm protein homolog 1	12					single fertilization (GO:0007338)|sperm capacitation (GO:0048240)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)	p.T12M(1)		stomach(2)	2						GGAATTTCGCGTCGTTTCCAC	0.458													g|||	930	0.185703	0.1543	0.1643	5008	,	,		15663	0.2004		0.1829	False		,,,				2504	0.2311					dbGAP											1	Substitution - Missense(1)	stomach(1)											83.0	69.0	73.0					19																	48495304		692	1591	2283	-	-	-	SO:0001583	missense	0			DQ227497	CCDS46135.1	19q13.32	2012-09-20				ENSG00000188334			33906	protein-coding gene	gene with protein product	"""epididymal sperm binding protein 2"", ""bovine seminal plasma protein homolog 1"""	612213				17085770, 18923155	Standard	NM_001128326		Approved	ELSPBP2, BSP1	uc002phs.1	Q075Z2		ENST00000344839.3:c.35C>T	19.37:g.48495304G>A	ENSP00000341762:p.Thr12Met		A6NIZ5	Missense_Mutation	SNP	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.T12M	ENST00000344839.3	37	c.35	CCDS46135.1	19	380	0.17399267399267399	76	0.15447154471544716	61	0.1685082872928177	115	0.20104895104895104	128	0.16886543535620052	G	6.353	0.433325	0.12045	.	.	ENSG00000188334	ENST00000344839	T	0.42513	0.97	1.71	-0.642	0.11486	.	1.614220	0.04353	U	0.356014	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.53745	0.962	B	0.28916	0.096	T	0.10428	-1.0630	9	0.46703	T	0.11	-2.6895	2.3933	0.04384	0.186:0.0:0.5229:0.2911	rs60213124	12	Q075Z2	BSPH1_HUMAN	M	12	ENSP00000341762:T12M	ENSP00000341762:T12M	T	-	2	0	BSPH1	53187116	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.368000	0.20399	-0.066000	0.12998	-0.310000	0.09108	ACG	BSPH1	-	NULL	ENSG00000188334		0.458	BSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPH1	HGNC	protein_coding	OTTHUMT00000465206.1	96	0.00	0	G	NM_001128326		48495304	48495304	-1	no_errors	ENST00000344839	ensembl	human	known	69_37n	missense	0	100.00	124	SNP	0.000	A
BTN3A2	11118	genome.wustl.edu	37	6	26368938	26368938	+	Silent	SNP	C	C	T	rs76764747		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:26368938C>T	ENST00000356386.2	+	4	419	c.231C>T	c.(229-231)aaC>aaT	p.N77N	BTN3A2_ENST00000396934.3_Silent_p.N54N|BTN3A2_ENST00000508906.2_Silent_p.N35N|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000377708.2_Silent_p.N77N|BTN3A2_ENST00000396948.1_Silent_p.N77N|BTN3A2_ENST00000527422.1_Silent_p.N77N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	77	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGGTGGTGAACGTGTATGCAG	0.557																																						dbGAP											0													309.0	219.0	250.0					6																	26368938		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.231C>T	6.37:g.26368938C>T			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.N77	ENST00000356386.2	37	c.231	CCDS4605.1	6																																																																																			BTN3A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000186470		0.557	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	207	0.00	0	C			26368938	26368938	+1	no_errors	ENST00000356386	ensembl	human	known	69_37n	silent	136	40.35	92	SNP	0.000	T
BTN3A2	11118	genome.wustl.edu	37	6	26369080	26369080	+	Silent	SNP	T	T	C	rs41290371	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:26369080T>C	ENST00000356386.2	+	4	561	c.373T>C	c.(373-375)Ttg>Ctg	p.L125L	BTN3A2_ENST00000396934.3_Silent_p.L102L|BTN3A2_ENST00000508906.2_Silent_p.L83L|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.L125L|BTN3A2_ENST00000396948.1_Silent_p.L125L|BTN3A2_ENST00000527422.1_Silent_p.L125L	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	125	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAAAGTACTTGTGTTATTT	0.493																																						dbGAP											0													10.0	9.0	9.0					6																	26369080		2173	4223	6396	-	-	-	SO:0001819	synonymous_variant	0			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.373T>C	6.37:g.26369080T>C			B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L125	ENST00000356386.2	37	c.373	CCDS4605.1	6																																																																																			BTN3A2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000186470		0.493	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A2	HGNC	protein_coding	OTTHUMT00000040113.2	26	0.00	0	T			26369080	26369080	+1	no_errors	ENST00000356386	ensembl	human	known	69_37n	silent	47	26.56	17	SNP	0.000	C
BTN3A1	11119	genome.wustl.edu	37	6	26406424	26406424	+	Silent	SNP	T	T	C	rs111540572	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:26406424T>C	ENST00000289361.6	+	3	741	c.373T>C	c.(373-375)Ttg>Ctg	p.L125L	BTN3A1_ENST00000476549.2_Silent_p.L125L|BTN3A1_ENST00000425234.2_Silent_p.L125L|BTN3A1_ENST00000414912.2_Silent_p.L125L	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	125	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGGAAAGTACTTGTGTTATTT	0.493													T|||	731	0.145966	0.1611	0.1787	5008	,	,		21119	0.0308		0.165	False		,,,				2504	0.2014					dbGAP											0													2.0	2.0	2.0					6																	26406424		1343	2917	4260	-	-	-	SO:0001819	synonymous_variant	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.373T>C	6.37:g.26406424T>C			A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	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,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.L125	ENST00000289361.6	37	c.373	CCDS4608.1	6																																																																																			BTN3A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000026950		0.493	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	38	0.00	0	T			26406424	26406424	+1	no_errors	ENST00000289361	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.234	C
Unknown	0	genome.wustl.edu	37	16	88620345	88620345	+	IGR	SNP	A	A	C	rs28424075	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:88620345A>C								ZFPM1 (16921 upstream) : ZC3H18 (16443 downstream)																							GGCGGGACGCACGCAGTGCAG	0.647																																						dbGAP											0													61.0	62.0	62.0					16																	88620345		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.88620345A>C				Silent	SNP	NULL	p.R95		37	c.285		16																																																																																			C16orf85	-	NULL	ENSG00000205036	0	0.647					C16orf85	HGNC			46	0.00	0	A			88620345	88620345	-1	no_errors	ENST00000378416	ensembl	human	known	69_37n	silent	26	15.62	5	SNP	0.001	C
Unknown	0	genome.wustl.edu	37	16	88620394	88620394	+	IGR	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:88620394T>C								ZFPM1 (16970 upstream) : ZC3H18 (16394 downstream)																							CTGGGACGGATGCGCAGCTGA	0.617																																						dbGAP											0													70.0	73.0	72.0					16																	88620394		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.88620394T>C				Missense_Mutation	SNP	NULL	p.H79R		37	c.236		16	.	.	.	.	.	.	.	.	.	.	T	3.485	-0.105092	0.06967	.	.	ENSG00000205036	ENST00000378416	.	.	.	0.82	-1.14	0.09741	.	.	.	.	.	T	0.23492	0.0568	.	.	.	.	.	.	P	0.41041	0.736	B	0.37508	0.252	T	0.20075	-1.0286	6	0.87932	D	0	.	3.275	0.06896	0.0:0.0:0.4457:0.5543	.	79	Q6ZSH3	CP085_HUMAN	R	79	.	ENSP00000367672:H79R	H	-	2	0	C16orf85	87147895	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.415000	0.07106	-0.365000	0.08076	0.172000	0.16884	CAT	C16orf85	-	NULL	ENSG00000205036	0	0.617					C16orf85	HGNC			56	0.00	0	T			88620394	88620394	-1	no_errors	ENST00000378416	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.001	C
C1orf216	127703	genome.wustl.edu	37	1	36181335	36181335	+	Silent	SNP	G	G	T	rs202169403		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:36181335G>T	ENST00000270815.4	-	2	1358	c.588C>A	c.(586-588)gcC>gcA	p.A196A	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	196										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCTGCAGTCGGGCCTGCTGGT	0.602											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													126.0	128.0	127.0					1																	36181335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.588C>A	1.37:g.36181335G>T		861	D3DPS1|Q8N8N6	Silent	SNP	NULL	p.A196	ENST00000270815.4	37	c.588	CCDS395.1	1																																																																																			C1orf216	-	NULL	ENSG00000142686		0.602	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf216	HGNC	protein_coding	OTTHUMT00000012013.3	61	0.00	0	G	NM_152374		36181335	36181335	-1	no_errors	ENST00000270815	ensembl	human	known	69_37n	silent	21	62.50	35	SNP	1.000	T
TRAPPC13	80006	genome.wustl.edu	37	5	64957916	64957916	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:64957916A>G	ENST00000399438.3	+	11	1282	c.937A>G	c.(937-939)Ata>Gta	p.I313V	TRAPPC13_ENST00000545191.1_Missense_Mutation_p.I314V|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.I313V|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.I307V|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.I307V	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	313																	TTTGGAGGCAATACCAGATAC	0.368																																						dbGAP											0													184.0	172.0	176.0					5																	64957916		1886	4101	5987	-	-	-	SO:0001583	missense	0				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.937A>G	5.37:g.64957916A>G	ENSP00000382367:p.Ile313Val		Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	pfam_DUF974	p.I314V	ENST00000399438.3	37	c.940	CCDS47222.1	5	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641628	0.29157	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.17	5.17	0.71159	.	0.141078	0.64402	D	0.000007	T	0.55657	0.1934	L	0.48986	1.54	0.80722	D	1	B;B;B;B	0.10296	0.003;0.003;0.003;0.002	B;B;B;B	0.12156	0.007;0.007;0.007;0.003	T	0.51663	-0.8677	9	0.17832	T	0.49	-25.433	15.1845	0.72989	1.0:0.0:0.0:0.0	.	307;307;313;313	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	V	313;313;307;307;314	.	ENSP00000231526:I307V	I	+	1	0	C5orf44	64993672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.956000	0.76013	2.173000	0.68751	0.455000	0.32223	ATA	C5orf44	-	NULL	ENSG00000113597		0.368	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C5orf44	HGNC	protein_coding	OTTHUMT00000370113.1	91	0.00	0	A	NM_024941		64957916	64957916	+1	no_errors	ENST00000545191	ensembl	human	known	69_37n	missense	241	43.03	182	SNP	1.000	G
C5orf47	133491	genome.wustl.edu	37	5	173416365	173416365	+	Silent	SNP	C	C	A	rs61730190	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:173416365C>A	ENST00000340147.6	+	1	204	c.99C>A	c.(97-99)ggC>ggA	p.G33G	C5orf47_ENST00000522195.1_Intron	NM_001144954.1	NP_001138426.1	Q569G3	CE047_HUMAN	chromosome 5 open reading frame 47	33										kidney(1)|prostate(1)	2						TGCAACTGGGCGGCCGTGGAG	0.701													C|||	299	0.0597045	0.0325	0.0807	5008	,	,		10614	0.001		0.162	False		,,,				2504	0.0368					dbGAP											0													21.0	34.0	30.0					5																	173416365		691	1591	2282	-	-	-	SO:0001819	synonymous_variant	0				CCDS47343.1	5q35.2	2012-02-24			ENSG00000185056	ENSG00000185056			27026	protein-coding gene	gene with protein product						12477932	Standard	NM_001144954		Approved	LOC133491	uc003mcw.4	Q569G3	OTTHUMG00000163349	ENST00000340147.6:c.99C>A	5.37:g.173416365C>A			Q8IYU7	Silent	SNP	NULL	p.G33	ENST00000340147.6	37	c.99	CCDS47343.1	5																																																																																			C5orf47	-	NULL	ENSG00000185056		0.701	C5orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf47	HGNC	protein_coding	OTTHUMT00000372926.1	23	0.00	0	C	NM_001144954		173416365	173416365	+1	no_errors	ENST00000340147	ensembl	human	known	69_37n	silent	2	75.00	6	SNP	0.028	A
C6orf132	647024	genome.wustl.edu	37	6	42074288	42074288	+	Silent	SNP	C	C	G	rs9471762	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:42074288C>G	ENST00000341865.4	-	4	1361	c.1362G>C	c.(1360-1362)gcG>gcC	p.A454A		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	454										breast(1)	1						GTGCTGAAGACGCTGTGTTCT	0.582													G|||	898	0.179313	0.3442	0.1614	5008	,	,		12718	0.0129		0.2455	False		,,,				2504	0.0726					dbGAP											0													10.0	10.0	10.0					6																	42074288		691	1590	2281	-	-	-	SO:0001819	synonymous_variant	0				CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.1362G>C	6.37:g.42074288C>G			A6NI05	Silent	SNP	NULL	p.A454	ENST00000341865.4	37	c.1362	CCDS47428.1	6																																																																																			C6orf132	-	NULL	ENSG00000188112		0.582	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf132	HGNC	protein_coding	OTTHUMT00000040548.2	21	0.00	0	C	NM_001164446		42074288	42074288	-1	no_errors	ENST00000341865	ensembl	human	putative	69_37n	silent	5	68.75	11	SNP	0.046	G
C9orf129	445577	genome.wustl.edu	37	9	96097673	96097673	+	Silent	SNP	G	G	A	rs62574460	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:96097673G>A	ENST00000375419.1	-	3	711	c.348C>T	c.(346-348)ggC>ggT	p.G116G		NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	116										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CCCCTCCGCTGCCCTCGTCGT	0.642													G|||	1348	0.269169	0.1082	0.1052	5008	,	,		17992	0.3601		0.1909	False		,,,				2504	0.59					dbGAP											0													15.0	17.0	16.0					9																	96097673		2198	4269	6467	-	-	-	SO:0001819	synonymous_variant	0				CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.348C>T	9.37:g.96097673G>A				Silent	SNP	NULL	p.G116	ENST00000375419.1	37	c.348	CCDS43850.1	9																																																																																			C9orf129	-	NULL	ENSG00000204352		0.642	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	C9orf129	HGNC	protein_coding	OTTHUMT00000053147.1	20	0.00	0	G	NM_001098808		96097673	96097673	-1	no_errors	ENST00000375419	ensembl	human	known	69_37n	silent	23	43.90	18	SNP	1.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100137844	100137844	+	Silent	SNP	C	C	G	rs376416655		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:100137844C>G	ENST00000357054.1	+	48	5717	c.4782C>G	c.(4780-4782)gcC>gcG	p.A1594A	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Silent_p.A1649A|CCDC180_ENST00000529487.1_Silent_p.A1649A|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1594						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACCTGGCGGCCGTGGAAGCCC	0.597																																						dbGAP											0													105.0	89.0	94.0					9																	100137844		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4782C>G	9.37:g.100137844C>G			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.A1649	ENST00000357054.1	37	c.4947		9																																																																																			C9orf174	-	NULL	ENSG00000197816		0.597	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		31	0.00	0	C	NM_020893		100137844	100137844	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	silent	34	44.26	27	SNP	0.000	G
CA5BP1	340591	genome.wustl.edu	37	X	15706830	15706830	+	RNA	SNP	C	C	A	rs4060	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:15706830C>A	ENST00000380334.2	+	0	74							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										GGGGCGATCGCCAGTCACCCA	0.532													A|||	2665	0.70596	0.525	0.5216	3775	,	,		14791	0.7044		0.4016	False		,,,				2504	0.5061					dbGAP											0																																										-	-	-			0			BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15706830C>A			A6NEZ4	RNA	SNP	-	NULL	ENST00000380334.2	37	NULL		X																																																																																			CA5BP1	-	-	ENSG00000186312		0.532	CA5BP1-005	KNOWN	basic	processed_transcript	CA5BP1	HGNC	pseudogene	OTTHUMT00000055884.3	9	0.00	0	C	NR_026551		15706830	15706830	+1	no_errors	ENST00000380331	ensembl	human	known	69_37n	rna	21	40.00	14	SNP	0.022	A
CAGE1	285782	genome.wustl.edu	37	6	7373926	7373926	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:7373926T>C	ENST00000512086.1	-	5	1328	c.1126A>G	c.(1126-1128)Aat>Gat	p.N376D	CAGE1_ENST00000502583.1_Missense_Mutation_p.N376D|CAGE1_ENST00000296742.7_Missense_Mutation_p.N240D|CAGE1_ENST00000338150.4_Missense_Mutation_p.N376D|CAGE1_ENST00000379918.4_Missense_Mutation_p.N376D|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	376										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTAGTATCATTCTTCTCTAGG	0.333																																						dbGAP											0													98.0	85.0	89.0					6																	7373926		1823	4081	5904	-	-	-	SO:0001583	missense	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1126A>G	6.37:g.7373926T>C	ENSP00000427583:p.Asn376Asp		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.N376D	ENST00000512086.1	37	c.1126		6	.	.	.	.	.	.	.	.	.	.	T	13.53	2.266076	0.40095	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.42	5.42	0.78866	.	0.177618	0.39759	N	0.001277	T	0.25232	0.0613	L	0.50333	1.59	0.32544	N	0.533328	D;D;D	0.56746	0.972;0.977;0.977	P;P;P	0.56398	0.797;0.621;0.621	T	0.07520	-1.0768	10	0.16420	T	0.52	-1.9718	11.8607	0.52465	0.0:0.0:0.0:1.0	.	376;376;376	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	D	376;376;376;240;376;376;376;388	ENSP00000369250:N376D;ENSP00000425493:N376D;ENSP00000296742:N240D;ENSP00000427583:N376D;ENSP00000338107:N376D;ENSP00000423789:N388D	ENSP00000296742:N240D	N	-	1	0	CAGE1	7318925	0.991000	0.36638	0.792000	0.32020	0.016000	0.09150	1.546000	0.36179	2.065000	0.61736	0.482000	0.46254	AAT	CAGE1	-	NULL	ENSG00000164304		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	187	0.00	0	T	NM_175745		7373926	7373926	-1	no_errors	ENST00000338150	ensembl	human	known	69_37n	missense	181	46.33	158	SNP	0.983	C
CARS	833	genome.wustl.edu	37	11	3061128	3061128	+	Silent	SNP	C	C	T	rs540529754		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:3061128C>T	ENST00000397111.5	-	4	485	c.240G>A	c.(238-240)gtG>gtA	p.V80V	CARS_ENST00000278224.9_Silent_p.V80V|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Silent_p.V93V|CARS_ENST00000397114.3_Silent_p.V70V|CARS_ENST00000380525.4_Silent_p.V163V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	80					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)	AATCCTTCAACACTCTTCTCA	0.323			T	ALK	ALCL								C|||	1	0.000199681	0.0	0.0	5008	,	,		21420	0.0		0.0	False		,,,				2504	0.001				Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													111.0	99.0	103.0					11																	3061128		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	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.240G>A	11.37:g.3061128C>T			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	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.V163	ENST00000397111.5	37	c.489	CCDS7742.1	11																																																																																			CARS	-	pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	ENSG00000110619		0.323	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	159	0.00	0	C	NM_001751		3061128	3061128	-1	no_errors	ENST00000380525	ensembl	human	known	69_37n	silent	193	48.26	180	SNP	0.940	T
CASZ1	54897	genome.wustl.edu	37	1	10699922	10699922	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:10699922T>G	ENST00000377022.3	-	21	4674	c.4357A>C	c.(4357-4359)Aag>Cag	p.K1453Q	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1453					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)		TGGGTGACCTTGAGCGAGAAC	0.617																																						dbGAP											0													40.0	48.0	45.0					1																	10699922		2151	4257	6408	-	-	-	SO:0001583	missense	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.4357A>C	1.37:g.10699922T>G	ENSP00000366221:p.Lys1453Gln		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1453Q	ENST00000377022.3	37	c.4357	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335992	0.81801	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.84	4.84	0.62591	.	0.000000	0.47852	U	0.000202	T	0.67776	0.2929	L	0.41492	1.28	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.70978	-0.4725	9	0.66056	D	0.02	-17.3462	14.4083	0.67099	0.0:0.0:0.0:1.0	.	1453	Q86V15	CASZ1_HUMAN	Q	1453	.	ENSP00000366221:K1453Q	K	-	1	0	CASZ1	10622509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.104000	0.71498	1.814000	0.52955	0.377000	0.23210	AAG	CASZ1	-	NULL	ENSG00000130940		0.617	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	45	0.00	0	T	NM_017766		10699922	10699922	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	1.000	G
CAV1	857	genome.wustl.edu	37	7	116165233	116165233	+	Intron	SNP	C	C	T	rs45498702	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:116165233C>T	ENST00000341049.2	+	1	308				CAV1_ENST00000405348.1_5'Flank|CAV1_ENST00000393470.1_Intron|CAV1_ENST00000393467.1_5'Flank|CAV1_ENST00000393468.1_5'Flank	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa						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)			CGACTGCTGCCCTGGCCCCAG	0.647													C|||	207	0.0413339	0.0401	0.0317	5008	,	,		15654	0.001		0.0427	False		,,,				2504	0.09					dbGAP											0													8.0	12.0	11.0					7																	116165233		690	1589	2279	-	-	-	SO:0001627	intron_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.30+87C>T	7.37:g.116165233C>T			Q9UGP1|Q9UNG1|Q9UQH6	Silent	SNP	NULL	p.A39	ENST00000341049.2	37	c.117	CCDS5767.1	7																																																																																			CAV1	-	NULL	ENSG00000105974		0.647	CAV1-001	KNOWN	basic|CCDS	protein_coding	CAV1	HGNC	protein_coding	OTTHUMT00000059734.4	36	0.00	0	C	NM_001753		116165233	116165233	+1	no_errors	ENST00000451122	ensembl	human	known	69_37n	silent	7	33.33	4	SNP	0.003	T
CC2D2A	57545	genome.wustl.edu	37	4	15597727	15597727	+	Missense_Mutation	SNP	G	G	A	rs113065116		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:15597727G>A	ENST00000503292.1	+	35	4514	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	CC2D2A_ENST00000389652.5_Missense_Mutation_p.R1337Q|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R1445Q|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R1445Q	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1445					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						AATATTCAACGATATGAATCT	0.373																																						dbGAP											0													69.0	66.0	67.0					4																	15597727		1615	3539	5154	-	-	-	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.4334G>A	4.37:g.15597727G>A	ENSP00000421809:p.Arg1445Gln		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.R1445Q	ENST00000503292.1	37	c.4334	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	3.809	-0.040041	0.07497	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.69	-3.1	0.05315	.	0.648482	0.16037	N	0.232601	T	0.30417	0.0764	N	0.01729	-0.75	0.58432	D	0.999997	B;B	0.11235	0.004;0.002	B;B	0.08055	0.002;0.003	T	0.10291	-1.0636	10	0.12430	T	0.62	.	8.5635	0.33525	0.7253:0.1029:0.1718:0.0	.	1445;1337	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Q	1445;1445;1337;1337;1445;1337	ENSP00000403465:R1445Q;ENSP00000398391:R1445Q;ENSP00000421809:R1445Q;ENSP00000374303:R1337Q	ENSP00000374303:R1337Q	R	+	2	0	CC2D2A	15206825	0.003000	0.15002	0.260000	0.24451	0.930000	0.56654	0.140000	0.16056	-0.376000	0.07943	-0.482000	0.04802	CGA	CC2D2A	-	NULL	ENSG00000048342		0.373	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	70	0.00	0	G	NM_001080522		15597727	15597727	+1	no_errors	ENST00000413206	ensembl	human	known	69_37n	missense	114	47.71	104	SNP	0.769	A
CCDC140	151278	genome.wustl.edu	37	2	223168793	223168793	+	Missense_Mutation	SNP	C	C	T	rs545278450		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:223168793C>T	ENST00000295226.1	+	2	556	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	58										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGAGTAAACGCAACAGGTG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15395	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													56.0	57.0	57.0					2																	223168793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.172C>T	2.37:g.223168793C>T	ENSP00000295226:p.Arg58Cys			Missense_Mutation	SNP	NULL	p.R58C	ENST00000295226.1	37	c.172	CCDS2452.1	2	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522669	0.27211	.	.	ENSG00000163081	ENST00000295226	.	.	.	3.23	-3.32	0.04973	.	.	.	.	.	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B	0.32051	0.354	B	0.16722	0.016	T	0.15009	-1.0452	8	0.87932	D	0	.	0.8309	0.01130	0.1532:0.2275:0.3021:0.3172	.	58	Q96MF4	CC140_HUMAN	C	58	.	ENSP00000295226:R58C	R	+	1	0	CCDC140	222877037	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.210000	0.02999	-0.897000	0.03910	-0.175000	0.13238	CGC	CCDC140	-	NULL	ENSG00000163081		0.592	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC140	HGNC	protein_coding	OTTHUMT00000256854.1	49	0.00	0	C	NM_153038		223168793	223168793	+1	no_errors	ENST00000295226	ensembl	human	known	69_37n	missense	27	43.75	21	SNP	0.001	T
CCDC154	645811	genome.wustl.edu	37	16	1484791	1484791	+	Silent	SNP	C	C	T	rs7192233	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:1484791C>T	ENST00000389176.3	-	16	1942	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	CCDC154_ENST00000409671.1_Silent_p.P440P	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	592						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						GCGGCGTCCGCGGGCCCTCCT	0.677													C|||	474	0.0946486	0.2012	0.0476	5008	,	,		11664	0.0516		0.0567	False		,,,				2504	0.0675					dbGAP											0													17.0	23.0	21.0					16																	1484791		691	1586	2277	-	-	-	SO:0001819	synonymous_variant	0					16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1776G>A	16.37:g.1484791C>T			G9JV18	Silent	SNP	NULL	p.P592	ENST00000389176.3	37	c.1776		16																																																																																			CCDC154	-	NULL	ENSG00000197599		0.677	CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC154	HGNC	protein_coding		8	0.00	0	C	NM_001143980		1484791	1484791	-1	no_errors	ENST00000389176	ensembl	human	known	69_37n	silent	3	57.14	4	SNP	0.018	T
CCDC80	151887	genome.wustl.edu	37	3	112329033	112329034	+	Intron	INS	-	-	A	rs79343253|rs78427541|rs11305337		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:112329033_112329034insA	ENST00000206423.3	-	6	3275				CCDC80_ENST00000439685.2_Intron	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGTGCCCAGAAAAAAAAAAA	0.361																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2322-105->T	3.37:g.112329044_112329044dupA			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Frame_Shift_Ins	INS	NULL	p.W18fs	ENST00000206423.3	37	c.51_50	CCDS2968.1	3																																																																																			CCDC80	-	NULL	ENSG00000091986		0.361	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	17	0.00	0	-	NM_199511		112329033	112329034	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000479368	ensembl	human	putative	69_37n	frame_shift_ins	23	11.54	3	INS	0.003:0.443	A
CCDC81	60494	genome.wustl.edu	37	11	86103702	86103702	+	Missense_Mutation	SNP	A	A	G	rs10501615	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:86103702A>G	ENST00000445632.2	+	4	690	c.418A>G	c.(418-420)Atg>Gtg	p.M140V	CCDC81_ENST00000528728.1_5'Flank|CCDC81_ENST00000354755.1_Intron|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	140										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TTCCATTTCCATGAAACAAAA	0.388													A|||	201	0.0401358	0.1051	0.0159	5008	,	,		21049	0.002		0.0139	False		,,,				2504	0.0358					dbGAP											0													250.0	206.0	219.0					11																	86103702		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.418A>G	11.37:g.86103702A>G	ENSP00000415528:p.Met140Val		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd	p.M140V	ENST00000445632.2	37	c.418	CCDS53691.1	11	54	0.024725274725274724	37	0.07520325203252033	6	0.016574585635359115	0	0.0	11	0.014511873350923483	A	0.371	-0.933945	0.02340	.	.	ENSG00000149201	ENST00000445632	T	0.40756	1.02	5.82	3.4	0.38934	.	.	.	.	.	T	0.00784	0.0026	N	0.02011	-0.69	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.07347	-1.0777	8	.	.	.	1.0993	10.1833	0.42982	0.8568:0.0:0.1432:0.0	rs10501615;rs60357923;rs10501615	140	Q6ZN84	CCD81_HUMAN	V	140	ENSP00000415528:M140V	.	M	+	1	0	CCDC81	85781350	0.000000	0.05858	0.668000	0.29813	0.056000	0.15407	0.342000	0.19926	0.975000	0.38392	0.533000	0.62120	ATG	CCDC81	-	NULL	ENSG00000149201		0.388	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	141	0.00	0	A	NM_021827		86103702	86103702	+1	no_errors	ENST00000445632	ensembl	human	known	69_37n	missense	71	68.16	152	SNP	0.789	G
CCDC88A	55704	genome.wustl.edu	37	2	55589532	55589532	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:55589532T>C	ENST00000436346.1	-	7	1380	c.539A>G	c.(538-540)gAt>gGt	p.D180G	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D180G|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D180G|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D180G	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	180					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						CTGCGACATATCAGTCACTTC	0.348																																						dbGAP											0													110.0	104.0	106.0					2																	55589532		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.539A>G	2.37:g.55589532T>C	ENSP00000410608:p.Asp180Gly		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.D180G	ENST00000436346.1	37	c.539		2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893081	0.33442	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;2.33	4.72	3.52	0.40303	.	0.377447	0.20496	U	0.091198	T	0.29914	0.0748	N	0.08118	0	0.58432	D	0.999996	B;B;B	0.26445	0.149;0.002;0.019	B;B;B	0.35607	0.206;0.003;0.019	T	0.12993	-1.0526	10	0.66056	D	0.02	-17.348	6.798	0.23736	0.1451:0.0:0.2652:0.5897	.	180;180;180	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	G	180;180;180;180;105	ENSP00000338728:D180G;ENSP00000263630:D180G;ENSP00000410608:D180G;ENSP00000404431:D180G;ENSP00000399237:D105G	ENSP00000263630:D180G	D	-	2	0	CCDC88A	55443036	0.964000	0.33143	0.998000	0.56505	0.981000	0.71138	3.208000	0.51114	0.739000	0.32628	0.533000	0.62120	GAT	CCDC88A	-	pfam_HOOK	ENSG00000115355		0.348	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		79	0.00	0	T	NM_017571		55589532	55589532	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	145	51.32	155	SNP	0.633	C
CCER1	196477	genome.wustl.edu	37	12	91347621	91347621	+	Missense_Mutation	SNP	G	G	T	rs377720285		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:91347621G>T	ENST00000358859.2	-	1	1332	c.899C>A	c.(898-900)gCg>gAg	p.A300E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	300	Glu-rich.																ctcctcGCTCGCCTCCTTTGC	0.527																																						dbGAP											0													209.0	188.0	195.0					12																	91347621		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.899C>A	12.37:g.91347621G>T	ENSP00000351727:p.Ala300Glu		Q8TC47	Missense_Mutation	SNP	NULL	p.A300E	ENST00000358859.2	37	c.899	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.802835	0.00611	.	.	ENSG00000197651	ENST00000358859	T	0.20738	2.05	4.25	-6.75	0.01738	.	1.269290	0.05964	N	0.641111	T	0.05090	0.0136	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	10	0.02654	T	1	4.2783	0.8092	0.01090	0.2712:0.3331:0.1389:0.2568	.	300	Q8TC90	CL012_HUMAN	E	300	ENSP00000351727:A300E	ENSP00000351727:A300E	A	-	2	0	C12orf12	89871752	0.009000	0.17119	0.000000	0.03702	0.017000	0.09413	0.037000	0.13840	-1.245000	0.02513	-2.104000	0.00359	GCG	CCER1	-	NULL	ENSG00000197651		0.527	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	587	0.50	3	G	NM_152638		91347621	91347621	-1	no_errors	ENST00000358859	ensembl	human	known	69_37n	missense	344	41.65	247	SNP	0.000	T
CCNYL2	414194	genome.wustl.edu	37	10	42965636	42965636	+	RNA	SNP	C	C	T	rs1255411	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:42965636C>T	ENST00000483242.3	-	0	516					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TAAATCTCTCCGGGCTCTGGG	0.453													t|||	3472	0.693291	0.9191	0.7161	5008	,	,		15697	0.6448		0.5954	False		,,,				2504	0.5225					dbGAP											0																																										-	-	-			0			BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42965636C>T				RNA	SNP	-	NULL	ENST00000483242.3	37	NULL		10																																																																																			CCNYL2	-	-	ENSG00000182632		0.453	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	HGNC	pseudogene	OTTHUMT00000047670.5	32	0.00	0	C	XM_936368		42965636	42965636	-1	no_errors	ENST00000475714	ensembl	human	known	69_37n	rna	0	100.00	34	SNP	0.994	T
CCZ1B	221960	genome.wustl.edu	37	7	6859402	6859402	+	Silent	SNP	G	G	A	rs200223833	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:6859402G>A	ENST00000316731.8	-	7	1265	c.693C>T	c.(691-693)ctC>ctT	p.L231L	CCZ1B_ENST00000538180.1_Silent_p.L88L	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	231						lysosome (GO:0005764)|membrane (GO:0016020)											CCTACCAGATGAGCTGATCGT	0.358																																						dbGAP											0													12.0	11.0	11.0					7																	6859402		1992	4118	6110	-	-	-	SO:0001819	synonymous_variant	0			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.693C>T	7.37:g.6859402G>A			A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	pfam_DUF1712_fun	p.L231	ENST00000316731.8	37	c.693	CCDS5354.1	7																																																																																			CCZ1B	-	pfam_DUF1712_fun	ENSG00000146574		0.358	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	48	0.00	0	G	NM_198097		6859402	6859402	-1	no_errors	ENST00000316731	ensembl	human	known	69_37n	silent	116	24.68	38	SNP	0.998	A
CD151	977	genome.wustl.edu	37	11	838187	838187	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:838187T>C	ENST00000397420.3	+	9	1006	c.757T>C	c.(757-759)Tac>Cac	p.Y253H	CD151_ENST00000525181.1_3'UTR|CD151_ENST00000528011.1_Missense_Mutation_p.Y251H|CD151_ENST00000397421.1_Missense_Mutation_p.Y253H|CD151_ENST00000322008.4_Missense_Mutation_p.Y253H			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	253					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGGAGCACTACTGACCCTG	0.612																																					Esophageal Squamous(14;501 559 15826 37823 38305)	dbGAP											0													133.0	107.0	116.0					11																	838187		2203	4297	6500	-	-	-	SO:0001583	missense	0			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.757T>C	11.37:g.838187T>C	ENSP00000380565:p.Tyr253His		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Y253H	ENST00000397420.3	37	c.757	CCDS7719.1	11	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390384	0.82902	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000528143;ENST00000528011	T;T;T;T	0.46451	0.9;0.9;0.9;0.87	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000001	T	0.50769	0.1635	M	0.78285	2.405	0.80722	D	1	P	0.41420	0.749	B	0.44315	0.446	T	0.60459	-0.7259	10	0.87932	D	0	.	13.5152	0.61537	0.0:0.0:0.0:1.0	.	253	P48509	CD151_HUMAN	H	253;253;253;129;251	ENSP00000380565:Y253H;ENSP00000324101:Y253H;ENSP00000380566:Y253H;ENSP00000432990:Y251H	ENSP00000324101:Y253H	Y	+	1	0	CD151	828187	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.112000	0.64634	1.920000	0.55613	0.459000	0.35465	TAC	CD151	-	NULL	ENSG00000177697		0.612	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD151	HGNC	protein_coding	OTTHUMT00000257108.1	127	0.78	1	T	NM_004357		838187	838187	+1	no_errors	ENST00000322008	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	C
CD34	947	genome.wustl.edu	37	1	208061172	208061172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:208061172G>A	ENST00000310833.7	-	8	1390	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	CD34_ENST00000485761.1_Intron|CD34_ENST00000367036.3_Nonsense_Mutation_p.R199*|CD34_ENST00000537704.1_Nonsense_Mutation_p.R222*|CD34_ENST00000356522.4_3'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	357					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						TGAGCCCCTCGGTTCACACTG	0.592																																						dbGAP											0													101.0	86.0	91.0					1																	208061172		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1069C>T	1.37:g.208061172G>A	ENSP00000310036:p.Arg357*		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Nonsense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.R357*	ENST00000310833.7	37	c.1069	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.747611	0.97809	.	.	ENSG00000174059	ENST00000310833;ENST00000367036;ENST00000537704;ENST00000367037	.	.	.	4.93	4.93	0.64822	.	0.339451	0.25178	N	0.032553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2084	14.0094	0.64486	0.0:0.0:1.0:0.0	.	.	.	.	X	357;199;222;327	.	ENSP00000310036:R357X	R	-	1	2	CD34	206127795	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.655000	0.37345	2.444000	0.82710	0.555000	0.69702	CGA	CD34	-	pfam_CD34/Podocalyxin,prints_CD34	ENSG00000174059		0.592	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	49	0.00	0	G	NM_001773		208061172	208061172	-1	no_errors	ENST00000310833	ensembl	human	known	69_37n	nonsense	33	59.76	49	SNP	1.000	A
CDH23	64072	genome.wustl.edu	37	10	73569609	73569609	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:73569609C>T	ENST00000224721.6	+	60	8775	c.8770C>T	c.(8770-8772)Ctc>Ttc	p.L2924F	CDH23_ENST00000398788.3_Missense_Mutation_p.L679F|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2919	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACCTTCGACCTCTTCATGGC	0.622																																						dbGAP											0													109.0	115.0	113.0					10																	73569609		2082	4202	6284	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8770C>T	10.37:g.73569609C>T	ENSP00000224721:p.Leu2924Phe		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L2922F	ENST00000224721.6	37	c.8764		10	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012155	0.93346	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.61510	0.1	5.61	5.61	0.85477	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.76212	0.3956	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.71066	-0.4700	10	0.10636	T	0.68	.	19.6296	0.95694	0.0:1.0:0.0:0.0	.	2919;2919	E9PEX1;Q9H251	.;CAD23_HUMAN	F	2924;2919;2922;679	ENSP00000381768:L679F	ENSP00000224721:L2924F	L	+	1	0	CDH23	73239615	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.779000	0.85648	2.650000	0.89964	0.549000	0.68633	CTC	CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000107736		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	17	0.00	0	C	NM_052836		73569609	73569609	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	1.000	T
CELA1	1990	genome.wustl.edu	37	12	51740415	51740416	+	Frame_Shift_Del	DEL	AC	AC	-	rs370927847|rs386762976|rs61761206|rs55827519|rs148235680	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:51740415_51740416delAC	ENST00000293636.1	-	1	47_48	c.7_8delGT	c.(7-9)gtcfs	p.V3fs		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	3					exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V3fs*21(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						ACCATAAAGGACCAGCATGTTG	0.515														1840	0.367412	0.2988	0.451	5008	,	,		16016	0.5546		0.3211	False		,,,				2504	0.2556					dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.7_8delGT	12.37:g.51740415_51740416delAC	ENSP00000293636:p.Val3fs		Q5MLF0|Q6DJT0|Q6ISM6	Frame_Shift_Del	DEL	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V3fs	ENST00000293636.1	37	c.8_7	CCDS8812.1	12																																																																																			CELA1	-	NULL	ENSG00000139610		0.515	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA1	HGNC	protein_coding	OTTHUMT00000394901.1	47	0.00	0	AC	NM_001971		51740415	51740416	-1	no_errors	ENST00000293636	ensembl	human	known	69_37n	frame_shift_del	56	33.71	30	DEL	0.534:0.591	-
CELA3B	23436	genome.wustl.edu	37	1	22307619	22307619	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:22307619G>T	ENST00000337107.6	+	4	335	c.316G>T	c.(316-318)Gac>Tac	p.D106Y	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CAACTCTGGGGACCTCTTTGT	0.627											OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													127.0	114.0	118.0					1																	22307619		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.316G>T	1.37:g.22307619G>T	ENSP00000338369:p.Asp106Tyr	755	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	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.D106Y	ENST00000337107.6	37	c.316	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	G	8.313	0.822605	0.16678	.	.	ENSG00000219073	ENST00000337107;ENST00000374666;ENST00000400277	T;T;T	0.17854	2.25;2.25;2.25	4.89	4.89	0.63831	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.496380	0.21411	N	0.074970	T	0.16727	0.0402	N	0.16166	0.38	0.35380	D	0.789832	B	0.21821	0.061	B	0.37508	0.252	T	0.30446	-0.9978	10	0.62326	D	0.03	-20.2782	15.8905	0.79293	0.0:0.0:1.0:0.0	.	106	P08861	CEL3B_HUMAN	Y	106;122;9	ENSP00000338369:D106Y;ENSP00000363798:D122Y;ENSP00000383135:D9Y	ENSP00000338369:D106Y	D	+	1	0	CELA3B	22180206	0.632000	0.27172	0.971000	0.41717	0.013000	0.08279	1.369000	0.34227	2.413000	0.81919	0.650000	0.86243	GAC	CELA3B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000219073		0.627	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	HGNC	protein_coding	OTTHUMT00000007797.1	18	0.00	0	G	NM_007352		22307619	22307619	+1	no_errors	ENST00000337107	ensembl	human	known	69_37n	missense	24	56.36	31	SNP	0.866	T
CEP120	153241	genome.wustl.edu	37	5	122717863	122717863	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:122717863G>A	ENST00000306467.5	-	14	2349	c.2045C>T	c.(2044-2046)gCt>gTt	p.A682V	CEP120_ENST00000306481.6_Missense_Mutation_p.A656V|CEP120_ENST00000328236.5_Missense_Mutation_p.A682V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	682					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						CTCTGCAAGAGCCTGCATATG	0.368																																						dbGAP											0													120.0	119.0	119.0					5																	122717863		2203	4299	6502	-	-	-	SO:0001583	missense	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.2045C>T	5.37:g.122717863G>A	ENSP00000303058:p.Ala682Val		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.A682V	ENST00000306467.5	37	c.2045	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228493	0.22542	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.1	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.43152	1.355	0.80722	D	1	P	0.35411	0.5	B	0.28465	0.09	T	0.13953	-1.0490	10	0.26408	T	0.33	-9.6298	13.6171	0.62115	0.0766:0.0:0.9234:0.0	.	682	Q8N960	CE120_HUMAN	V	682;682;656;656	ENSP00000303058:A682V;ENSP00000327504:A682V;ENSP00000307419:A656V;ENSP00000421620:A656V	ENSP00000303058:A682V	A	-	2	0	CEP120	122745762	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.149000	0.77396	1.279000	0.44446	0.585000	0.79938	GCT	CEP120	-	NULL	ENSG00000168944		0.368	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	192	0.00	0	G	NM_153223		122717863	122717863	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	missense	256	59.72	381	SNP	1.000	A
CERS1	10715	genome.wustl.edu	37	19	18995049	18995049	+	Missense_Mutation	SNP	C	C	T	rs201005099		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:18995049C>T	ENST00000427170.2	-	3	508	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	CERS1_ENST00000542296.2_Missense_Mutation_p.R48Q|CERS1_ENST00000429504.2_Missense_Mutation_p.R146Q|GDF1_ENST00000247005.6_5'UTR|AC005197.2_ENST00000597769.1_RNA	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	146	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						TGCAATGTCCCGTGGCACTGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15910	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													57.0	70.0	66.0					19																	18995049		2134	4236	6370	-	-	-	SO:0001583	missense	0			AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.437G>A	19.37:g.18995049C>T	ENSP00000402697:p.Arg146Gln			Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	p.R146Q	ENST00000427170.2	37	c.437	CCDS46020.1	19	.	.	.	.	.	.	.	.	.	.	C	6.963	0.547692	0.13312	.	.	ENSG00000223802	ENST00000427170;ENST00000429504;ENST00000542296	D;D;D	0.84730	-1.89;-1.89;-1.89	4.12	3.08	0.35506	TRAM/LAG1/CLN8 homology domain (3);	.	.	.	.	T	0.76198	0.3954	L	0.45228	1.405	0.80722	D	1	B	0.15473	0.013	B	0.15052	0.012	T	0.64728	-0.6339	9	0.19590	T	0.45	.	7.2984	0.26405	0.0:0.7291:0.1716:0.0993	.	146	P27544	CERS1_HUMAN	Q	146;146;48	ENSP00000402697:R146Q;ENSP00000389044:R146Q;ENSP00000437648:R48Q	ENSP00000402697:R146Q	R	-	2	0	CERS1	18856049	0.451000	0.25705	0.806000	0.32338	0.024000	0.10985	0.969000	0.29370	0.720000	0.32209	0.313000	0.20887	CGG	CERS1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	ENSG00000223802		0.612	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS1	HGNC	protein_coding		64	0.00	0	C			18995049	18995049	-1	no_errors	ENST00000427170	ensembl	human	known	69_37n	missense	14	63.16	24	SNP	0.974	T
CES5AP1	649264	genome.wustl.edu	37	22	23708489	23708489	+	IGR	SNP	G	G	A	rs6003661	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:23708489G>A								AP000343.2 (37809 upstream) : CES5AP1 (3792 downstream)																							AGCCACACTCGGGGTTATTGA	0.473													.|||	910	0.181709	0.4402	0.0648	5008	,	,		19432	0.0119		0.0815	False		,,,				2504	0.1933					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															22.37:g.23708489G>A				RNA	SNP	-	NULL		37	NULL		22																																																																																			CES5AP1	-	-	ENSG00000215478	0	0.473					CES5AP1	HGNC			18	0.00	0	G			23708489	23708489	-1	no_errors	ENST00000422151	ensembl	human	known	69_37n	rna	15	74.58	44	SNP	0.999	A
CHD4	1108	genome.wustl.edu	37	12	6701926	6701926	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:6701926G>T	ENST00000357008.2	-	18	2873	c.2710C>A	c.(2710-2712)Cca>Aca	p.P904T	CHD4_ENST00000544040.1_Missense_Mutation_p.P897T|CHD4_ENST00000309577.6_Missense_Mutation_p.P904T|CHD4_ENST00000544484.1_Missense_Mutation_p.P901T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	904	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)	p.P904T(2)		central_nervous_system(2)	2						TTTTGTAATGGTGTCCCAGTC	0.433																																					Colon(32;586 792 4568 16848 45314)	dbGAP											2	Substitution - Missense(2)	endometrium(2)											115.0	115.0	115.0					12																	6701926		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.2710C>A	12.37:g.6701926G>T	ENSP00000349508:p.Pro904Thr		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.P904T	ENST00000357008.2	37	c.2710	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751243	0.89753	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.98769	4.325	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	D	0.96276	0.9202	10	0.87932	D	0	4.2179	19.7589	0.96306	0.0:0.0:1.0:0.0	.	904;904;897	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	901;897;904;904;878	ENSP00000440392:P901T;ENSP00000440542:P897T;ENSP00000312419:P904T;ENSP00000349508:P904T	ENSP00000312419:P904T	P	-	1	0	CHD4	6572187	1.000000	0.71417	0.819000	0.32651	0.970000	0.65996	9.835000	0.99442	2.662000	0.90505	0.557000	0.71058	CCA	CHD4	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000111642		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		87	0.00	0	G	NM_001273		6701926	6701926	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	missense	136	18.34	31	SNP	1.000	T
CHRNA7	1139	genome.wustl.edu	37	15	32450704	32450704	+	Silent	SNP	G	G	A	rs201822909		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:32450704G>A	ENST00000306901.3	+	7	787	c.690G>A	c.(688-690)acG>acA	p.T230T	CHRNA7_ENST00000455693.2_Silent_p.T49T|CHRNA7_ENST00000454250.3_Silent_p.T259T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	230					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.T230T(1)|p.T140T(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCAGGACGCTCTACTATG	0.582																																					Esophageal Squamous(193;529 2900 40232 43193)	dbGAP											2	Substitution - coding silent(2)	ovary(2)											119.0	100.0	107.0					15																	32450704		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.690G>A	15.37:g.32450704G>A			A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T259	ENST00000306901.3	37	c.777	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000175344		0.582	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	21	0.00	0	G			32450704	32450704	+1	no_errors	ENST00000454250	ensembl	human	known	69_37n	silent	78	29.73	33	SNP	0.266	A
CKMT2	1160	genome.wustl.edu	37	5	80555035	80555035	+	Silent	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:80555035C>A	ENST00000424301.2	+	9	1214	c.976C>A	c.(976-978)Cga>Aga	p.R326R	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Silent_p.R326R|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Silent_p.R326R|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	326	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AACAGGACTACGAGCTGGTGT	0.522																																						dbGAP											0													171.0	141.0	151.0					5																	80555035		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.976C>A	5.37:g.80555035C>A			Q6ICS8|Q8N1E1	Silent	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.R326	ENST00000424301.2	37	c.976	CCDS4053.1	5																																																																																			CKMT2	-	pfam_ATP-guanido_PTrfase_cat	ENSG00000131730		0.522	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT2	HGNC	protein_coding	OTTHUMT00000369600.1	46	0.00	0	C	NM_001825		80555035	80555035	+1	no_errors	ENST00000254035	ensembl	human	known	69_37n	silent	51	66.45	103	SNP	0.965	A
CLEC18A	348174	genome.wustl.edu	37	16	69988472	69988472	+	Missense_Mutation	SNP	C	C	T	rs75776403	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:69988472C>T	ENST00000288040.6	+	3	639	c.452C>T	c.(451-453)aCg>aTg	p.T151M	CLEC18A_ENST00000568461.1_Missense_Mutation_p.T151M|CLEC18A_ENST00000393701.2_Missense_Mutation_p.T151M|CLEC18A_ENST00000449317.2_Missense_Mutation_p.T151M	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	151	SCP.			T -> M (in Ref. 2; BAF82573 and 4; AAI41809). {ECO:0000305}.		extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						ACCCACTACACGCAGGTGAGT	0.582													.|||	1592	0.317891	0.1135	0.3228	5008	,	,		20491	0.4901		0.2714	False		,,,				2504	0.4611					dbGAP											0													25.0	23.0	24.0					16																	69988472		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"""C-type lectin domain containing"""	30388	protein-coding gene	gene with protein product	"""mannose receptor-like"""					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.452C>T	16.37:g.69988472C>T	ENSP00000288040:p.Thr151Met		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.T151M	ENST00000288040.6	37	c.452	CCDS10886.1	16	616	0.28205128205128205	54	0.10975609756097561	115	0.31767955801104975	274	0.479020979020979	173	0.22823218997361477	.	15.90	2.969358	0.53614	.	.	ENSG00000157322	ENST00000393701;ENST00000539957;ENST00000545150;ENST00000449317;ENST00000288040	T;T;T	0.16073	2.37;2.37;2.37	1.97	1.97	0.26223	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	H	0.95574	3.69	0.23640	P	0.99722994	D;D	0.76494	0.998;0.999	P;P	0.59643	0.861;0.781	T	0.42916	-0.9423	8	.	.	.	.	7.5137	0.27587	0.0:1.0:0.0:0.0	.	151;151	A5D8T8;F8W692	CL18A_HUMAN;.	M	151;151;148;151;151	ENSP00000377304:T151M;ENSP00000413990:T151M;ENSP00000288040:T151M	.	T	+	2	0	CLEC18A	68545973	1.000000	0.71417	0.995000	0.50966	0.105000	0.19272	3.484000	0.53201	1.424000	0.47217	0.184000	0.17185	ACG	CLEC18A	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000157322		0.582	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18A	HGNC	protein_coding	OTTHUMT00000268955.2	29	0.00	0	C	NM_182619		69988472	69988472	+1	no_errors	ENST00000449317	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.998	T
CLEC18B	497190	genome.wustl.edu	37	16	74447514	74447514	+	Missense_Mutation	SNP	T	T	C	rs2650549		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:74447514T>C	ENST00000339953.5	-	4	638	c.517A>G	c.(517-519)Aca>Gca	p.T173A		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	173	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTATCGCTGTCTGGCCTGCA	0.607																																						dbGAP											0													183.0	169.0	174.0					16																	74447514		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.517A>G	16.37:g.74447514T>C	ENSP00000341051:p.Thr173Ala		B4DF90	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.T173A	ENST00000339953.5	37	c.517	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.141703	0.00332	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.07216	3.21	3.1	-0.011	0.13994	CAP domain (3);	1.328820	0.04620	N	0.401766	T	0.03095	0.0091	N	0.02854	-0.475	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.41360	-0.9513	10	0.13853	T	0.58	.	2.4812	0.04587	0.2223:0.3814:0.0:0.3964	rs2650549;rs3871580;rs56952299	93;173;173	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	A	173;173;173;93	ENSP00000341051:T173A	ENSP00000268492:T173A	T	-	1	0	CLEC18B	73005015	0.000000	0.05858	0.010000	0.14722	0.246000	0.25737	0.640000	0.24705	0.090000	0.17273	-0.254000	0.11334	ACA	CLEC18B	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000140839		0.607	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1	231	0.86	2	T	NM_001011880		74447514	74447514	-1	no_errors	ENST00000339953	ensembl	human	known	69_37n	missense	59	33.71	30	SNP	0.001	C
CLEC4E	26253	genome.wustl.edu	37	12	8689797	8689797	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:8689797T>C	ENST00000299663.3	-	4	451	c.286A>G	c.(286-288)Act>Gct	p.T96A	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATGGTGTCAGTAGAAAAGAAG	0.468																																						dbGAP											0													101.0	97.0	98.0					12																	8689797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.286A>G	12.37:g.8689797T>C	ENSP00000299663:p.Thr96Ala		B2R6Q6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.T96A	ENST00000299663.3	37	c.286	CCDS8594.1	12	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579219	0.28180	.	.	ENSG00000166523	ENST00000299663	T	0.62498	0.02	5.23	0.385	0.16249	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.571019	0.17034	N	0.189591	T	0.44201	0.1282	L	0.43152	1.355	0.44985	D	0.998009	B	0.22346	0.068	B	0.15484	0.013	T	0.13150	-1.0520	10	0.21014	T	0.42	.	3.9747	0.09468	0.0:0.2763:0.1802:0.5435	.	96	Q9ULY5	CLC4E_HUMAN	A	96	ENSP00000299663:T96A	ENSP00000299663:T96A	T	-	1	0	CLEC4E	8581064	0.585000	0.26774	0.423000	0.26634	0.693000	0.40251	0.636000	0.24644	0.186000	0.20125	0.482000	0.46254	ACT	CLEC4E	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000166523		0.468	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4E	HGNC	protein_coding	OTTHUMT00000400566.1	22	0.00	0	T	NM_014358		8689797	8689797	-1	no_errors	ENST00000299663	ensembl	human	known	69_37n	missense	53	58.27	74	SNP	0.194	C
CLP1	10978	genome.wustl.edu	37	11	57428875	57428875	+	Silent	SNP	C	C	T	rs113696908		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:57428875C>T	ENST00000302731.4	+	3	1173	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	CLP1_ENST00000529430.1_Silent_p.L426L|CLP1_ENST00000533682.1_Silent_p.L415L|CLP1_ENST00000525602.1_Silent_p.L415L	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						ACTTCCTTCTCATCATGGATA	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20281	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													119.0	105.0	110.0					11																	57428875		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.1053C>T	11.37:g.57428875C>T			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.L415	ENST00000302731.4	37	c.1245	CCDS44600.1	11																																																																																			CLP1	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1	ENSG00000172409		0.537	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	72	0.00	0	C	NM_006831		57428875	57428875	+1	no_errors	ENST00000525602	ensembl	human	known	69_37n	silent	16	60.98	25	SNP	1.000	T
CMTM3	123920	genome.wustl.edu	37	16	66643903	66643903	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:66643903G>C	ENST00000424011.2	+	5	1043	c.517G>C	c.(517-519)Gaa>Caa	p.E173Q	CMTM3_ENST00000460097.1_Missense_Mutation_p.E87Q|CMTM3_ENST00000565003.1_Missense_Mutation_p.E87Q|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000562707.1_Missense_Mutation_p.E173Q|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000566121.1_Missense_Mutation_p.E87Q|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000564060.1_Missense_Mutation_p.E141Q|CMTM3_ENST00000361909.4_Missense_Mutation_p.E173Q|CMTM3_ENST00000567572.1_Missense_Mutation_p.E173Q|CMTM3_ENST00000568477.1_Missense_Mutation_p.E87Q			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	173					chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CCACAAGACAGAAGGTAAGCG	0.552																																						dbGAP											0													134.0	119.0	124.0					16																	66643903		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"""chemokine-like factor superfamily 3"""	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.517G>C	16.37:g.66643903G>C	ENSP00000400482:p.Glu173Gln		A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.E173Q	ENST00000424011.2	37	c.517	CCDS10815.1	16	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531375	0.64972	.	.	ENSG00000140931	ENST00000424011;ENST00000361909	T;T	0.38240	1.15;1.15	5.63	4.68	0.58851	.	0.595434	0.16730	N	0.201892	T	0.42108	0.1188	L	0.53249	1.67	0.80722	D	1	D	0.53885	0.963	P	0.49012	0.598	T	0.15694	-1.0428	10	0.30078	T	0.28	-8.8513	13.3465	0.60575	0.0763:0.0:0.9237:0.0	.	173	Q96MX0	CKLF3_HUMAN	Q	173	ENSP00000400482:E173Q;ENSP00000354579:E173Q	ENSP00000354579:E173Q	E	+	1	0	CMTM3	65201404	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	4.332000	0.59279	1.382000	0.46385	0.655000	0.94253	GAA	CMTM3	-	NULL	ENSG00000140931		0.552	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CMTM3	HGNC	protein_coding	OTTHUMT00000268814.2	132	0.00	0	G	NM_144601		66643903	66643903	+1	no_errors	ENST00000361909	ensembl	human	known	69_37n	missense	19	68.85	42	SNP	1.000	C
CNTNAP4	85445	genome.wustl.edu	37	16	76573644	76573644	+	Missense_Mutation	SNP	T	T	A	rs557491130		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:76573644T>A	ENST00000476707.1	+	19	3397	c.3258T>A	c.(3256-3258)aaT>aaA	p.N1086K	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.N1034K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.N1010K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.N1082K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1083	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACAAGTTAAATAAATATCAAG	0.343													T|||	1	0.000199681	0.0	0.0	5008	,	,		17381	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													67.0	68.0	68.0					16																	76573644		1980	4211	6191	-	-	-	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3258T>A	16.37:g.76573644T>A	ENSP00000417628:p.Asn1086Lys		E9PFZ6|Q86YZ7	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.N1082K	ENST00000476707.1	37	c.3246		16	.	.	.	.	.	.	.	.	.	.	T	13.18	2.161026	0.38119	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78924	-1.22;-1.22;1.0;1.0	5.03	-2.88	0.05682	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.318253	0.22649	N	0.057344	T	0.66944	0.2841	.	.	.	0.25770	N	0.984841	B;B;B	0.26547	0.019;0.152;0.087	B;B;B	0.32928	0.102;0.102;0.155	T	0.59423	-0.7457	9	0.59425	D	0.04	.	8.5342	0.33353	0.1028:0.4401:0.0:0.4571	.	1010;1086;1083	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	K	1082;1034;1010;1086	ENSP00000306893:N1082K;ENSP00000439733:N1034K;ENSP00000418741:N1010K;ENSP00000417628:N1086K	ENSP00000306893:N1082K	N	+	3	2	CNTNAP4	75131145	0.000000	0.05858	0.838000	0.33150	0.973000	0.67179	-0.629000	0.05508	-0.666000	0.05310	-0.248000	0.11899	AAT	CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	77	0.00	0	T	NM_033401		76573644	76573644	+1	no_errors	ENST00000307431	ensembl	human	known	69_37n	missense	71	34.55	38	SNP	0.249	A
COL13A1	1305	genome.wustl.edu	37	10	71665573	71665573	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:71665573C>T	ENST00000398978.3	+	17	1438	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	COL13A1_ENST00000354547.3_Missense_Mutation_p.R294W|COL13A1_ENST00000356340.3_Missense_Mutation_p.R316W|COL13A1_ENST00000398972.3_Missense_Mutation_p.R316W|COL13A1_ENST00000398969.3_Missense_Mutation_p.R259W|COL13A1_ENST00000357811.3_Missense_Mutation_p.R294W|COL13A1_ENST00000398966.3_Missense_Mutation_p.R294W|COL13A1_ENST00000522165.1_Missense_Mutation_p.R297W|COL13A1_ENST00000398971.3_Missense_Mutation_p.R316W|COL13A1_ENST00000520267.1_Missense_Mutation_p.R259W|COL13A1_ENST00000398968.3_Missense_Mutation_p.R297W|COL13A1_ENST00000520133.1_Missense_Mutation_p.R265W|COL13A1_ENST00000398973.3_Missense_Mutation_p.R316W|COL13A1_ENST00000517713.1_Missense_Mutation_p.R294W|COL13A1_ENST00000398964.3_Missense_Mutation_p.R287W|COL13A1_ENST00000398974.3_Missense_Mutation_p.R304W	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTACCACGGCCGGAAGGTAAG	0.557																																						dbGAP											0													63.0	65.0	64.0					10																	71665573		1917	4110	6027	-	-	-	SO:0001583	missense	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.946C>T	10.37:g.71665573C>T	ENSP00000381949:p.Arg316Trp			Missense_Mutation	SNP	pfam_Collagen	p.R316W	ENST00000398978.3	37	c.946	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510310	0.44660	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.12;-3.12;-3.12;-3.12;-3.12;-3.39;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.39;-3.39;-3.12;-3.39	5.2	4.28	0.50868	.	0.086125	0.47093	D	0.000256	D	0.94958	0.8369	L	0.54965	1.715	0.37401	D	0.91283	D;D;D;D;D;D;D;D;D;D;D;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;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.994;0.997;0.996;0.999;0.99;0.996;0.994;0.996;0.998;0.997;0.996;0.995;0.994;0.984;0.995;0.993;0.999;0.993	D	0.95529	0.8601	10	0.52906	T	0.07	-10.7541	11.0764	0.48034	0.4038:0.5962:0.0:0.0	.	259;316;316;316;316;294;297;316;304;316;265;294;294;325;316;297;294;287;316	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	304;316;297;294;287;259;316;316;316;316;294;294;259;294;297;265	ENSP00000381946:R304W;ENSP00000381943:R316W;ENSP00000381940:R297W;ENSP00000381938:R294W;ENSP00000381936:R287W;ENSP00000381941:R259W;ENSP00000348695:R316W;ENSP00000381944:R316W;ENSP00000381945:R316W;ENSP00000381949:R316W;ENSP00000346553:R294W;ENSP00000350463:R294W;ENSP00000428057:R259W;ENSP00000430061:R294W;ENSP00000428342:R297W;ENSP00000430173:R265W	ENSP00000346553:R294W	R	+	1	2	COL13A1	71335579	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.113000	0.41902	1.358000	0.45922	0.563000	0.77884	CGG	COL13A1	-	pfam_Collagen	ENSG00000197467		0.557	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	46	0.00	0	C	NM_005203		71665573	71665573	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	missense	77	18.75	18	SNP	1.000	T
COL20A1	57642	genome.wustl.edu	37	20	61938878	61938878	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:61938878C>T	ENST00000358894.6	+	6	633	c.533C>T	c.(532-534)gCt>gTt	p.A178V	COL20A1_ENST00000326996.6_Missense_Mutation_p.A178V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A185V|COL20A1_ENST00000422202.1_Missense_Mutation_p.A185V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	178					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCGTGCCTGCTGACATGGTC	0.652																																						dbGAP											0													32.0	36.0	34.0					20																	61938878		2018	4151	6169	-	-	-	SO:0001583	missense	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.533C>T	20.37:g.61938878C>T	ENSP00000351767:p.Ala178Val		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	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.A178V	ENST00000358894.6	37	c.533	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333516	0.41297	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	3.92	0.173	0.15036	von Willebrand factor, type A (1);	0.497453	0.19611	N	0.110139	T	0.53997	0.1831	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.39078	-0.9631	10	0.34782	T	0.22	.	8.4138	0.32659	0.0:0.5941:0.0:0.4059	.	178	Q9P218	COKA1_HUMAN	V	178;178;185;185	ENSP00000351767:A178V;ENSP00000323077:A178V;ENSP00000408690:A185V;ENSP00000414753:A185V	ENSP00000323077:A178V	A	+	2	0	COL20A1	61409323	0.000000	0.05858	0.002000	0.10522	0.561000	0.35649	-0.167000	0.09940	-0.261000	0.09405	0.313000	0.20887	GCT	COL20A1	-	smart_VWF_A	ENSG00000101203		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	11	0.00	0	C	NM_020882		61938878	61938878	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	0.003	T
CPA6	57094	genome.wustl.edu	37	8	68346441	68346441	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:68346441T>C	ENST00000297770.4	-	9	1088	c.873A>G	c.(871-873)acA>acG	p.T291T	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	291						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGCCACAGTATGTGTCATCAC	0.453																																						dbGAP											0													97.0	91.0	93.0					8																	68346441		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.873A>G	8.37:g.68346441T>C			Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.T291	ENST00000297770.4	37	c.873	CCDS6200.1	8																																																																																			CPA6	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000165078		0.453	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	59	0.00	0	T	NM_020361		68346441	68346441	-1	no_errors	ENST00000297770	ensembl	human	known	69_37n	silent	116	19.44	28	SNP	0.010	C
CPNE7	27132	genome.wustl.edu	37	16	89644040	89644040	+	Missense_Mutation	SNP	C	C	T	rs532282879		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:89644040C>T	ENST00000268720.5	+	2	398	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CPNE7_ENST00000319518.8_Missense_Mutation_p.R90C	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	90	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GCAGAGGCTGCGCTTTGAGGT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19064	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													121.0	76.0	91.0					16																	89644040		2195	4298	6493	-	-	-	SO:0001583	missense	0			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.268C>T	16.37:g.89644040C>T	ENSP00000268720:p.Arg90Cys			Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.R90C	ENST00000268720.5	37	c.268	CCDS10980.1	16	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656505	0.47467	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.70516	-0.49;-0.49	4.48	3.51	0.40186	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	M	0.90542	3.125	0.51767	D	0.999933	D;B	0.89917	1.0;0.27	D;B	0.76575	0.988;0.061	D	0.86955	0.2088	10	0.87932	D	0	-5.0884	11.7031	0.51581	0.0:0.9101:0.0:0.0899	.	90;90	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	C	90	ENSP00000317374:R90C;ENSP00000268720:R90C	ENSP00000268720:R90C	R	+	1	0	CPNE7	88171541	1.000000	0.71417	0.938000	0.37757	0.174000	0.22865	2.775000	0.47702	0.836000	0.34901	0.561000	0.74099	CGC	CPNE7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000178773		0.637	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	113	0.00	0	C			89644040	89644040	+1	no_errors	ENST00000268720	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.996	T
CPT1B	1375	genome.wustl.edu	37	22	51012790	51012790	+	Missense_Mutation	SNP	G	G	C	rs201769569		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:51012790G>C	ENST00000360719.2	-	9	1081	c.944C>G	c.(943-945)aCc>aGc	p.T315S	CPT1B_ENST00000312108.7_Missense_Mutation_p.T315S|CPT1B_ENST00000405237.3_Missense_Mutation_p.T315S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T112S|CPT1B_ENST00000395650.2_Missense_Mutation_p.T315S|CPT1B_ENST00000440709.1_Missense_Mutation_p.T315S|CPT1B_ENST00000457250.1_Missense_Mutation_p.T281S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	315					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GATCCGAGTGGTGTTGAACAT	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	dbGAP											0													178.0	105.0	130.0					22																	51012790		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.944C>G	22.37:g.51012790G>C	ENSP00000353945:p.Thr315Ser		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.T315S	ENST00000360719.2	37	c.944	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855032	0.71719	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-1.52;-2.61;-1.52;-2.61	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.76494	0.999;0.97;0.968;0.968	D;D;P;P	0.81914	0.995;0.913;0.865;0.865	D	0.93039	0.6455	10	0.54805	T	0.06	-32.893	14.4374	0.67290	0.0:0.0:1.0:0.0	.	315;281;112;315	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	S	315;315;315;281;315;112;315	ENSP00000385486:T315S;ENSP00000312189:T315S;ENSP00000353945:T315S;ENSP00000409342:T281S;ENSP00000414713:T315S;ENSP00000410966:T112S;ENSP00000379011:T315S	ENSP00000312189:T315S	T	-	2	0	CPT1B	49359656	1.000000	0.71417	0.996000	0.52242	0.416000	0.31233	9.081000	0.94049	2.261000	0.74972	0.561000	0.74099	ACC	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	94	0.00	0	G	NM_152246		51012790	51012790	-1	no_errors	ENST00000312108	ensembl	human	known	69_37n	missense	10	60.00	15	SNP	1.000	C
CR1	1378	genome.wustl.edu	37	1	207737244	207737244	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:207737244C>T	ENST00000367049.4	+	22	3622	c.3622C>T	c.(3622-3624)Cgt>Tgt	p.R1208C	CR1_ENST00000400960.2_Missense_Mutation_p.R758C|CR1_ENST00000367053.1_Missense_Mutation_p.R758C|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R758C|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	758	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.		H -> R (in dbSNP:rs2274567). {ECO:0000269|PubMed:11313284}.		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						GCATGCTGAGCGTACCCAAAG	0.507																																						dbGAP											0													13.0	21.0	19.0					1																	207737244		654	2960	3614	-	-	-	SO:0001583	missense	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.3622C>T	1.37:g.207737244C>T	ENSP00000356016:p.Arg1208Cys		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1208C	ENST00000367049.4	37	c.3622	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	c	13.67	2.307331	0.40795	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	3.12	-0.299	0.12808	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71221	0.3314	M	0.75447	2.3	0.09310	N	1	D;D	0.89917	0.996;1.0	P;D	0.72338	0.84;0.977	T	0.57740	-0.7759	9	0.51188	T	0.08	.	2.7787	0.05355	0.2205:0.4914:0.0:0.2881	.	758;1208	P17927;E9PDY4	CR1_HUMAN;.	C	758;758;758;1208	ENSP00000356018:R758C;ENSP00000356020:R758C;ENSP00000383744:R758C;ENSP00000356016:R1208C	ENSP00000356016:R1208C	R	+	1	0	CR1	205803867	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.441000	0.21611	-0.150000	0.11195	0.194000	0.17425	CGT	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.507	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	28	0.00	0	C	NM_000573		207737244	207737244	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	77	43.38	59	SNP	0.000	T
CRAMP1L	57585	genome.wustl.edu	37	16	1720699	1720699	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:1720699G>T	ENST00000397412.3	+	20	3633	c.3534G>T	c.(3532-3534)atG>atT	p.M1178I	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.M1178I|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.M1175I|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.M553I			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1178	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						GCCGGAAGATGTTGCCGACTC	0.577																																						dbGAP											0													151.0	156.0	154.0					16																	1720699		1986	4168	6154	-	-	-	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.3534G>T	16.37:g.1720699G>T	ENSP00000380559:p.Met1178Ile		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1178I	ENST00000397412.3	37	c.3534	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179439	0.38511	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.91	5.91	0.95273	.	0.093044	0.64402	D	0.000001	T	0.27933	0.0688	L	0.29908	0.895	0.28411	N	0.918188	B	0.30236	0.274	B	0.26416	0.069	T	0.15464	-1.0436	9	0.19147	T	0.46	-19.6651	10.0526	0.42225	0.0714:0.1385:0.7901:0.0	.	1178	Q96RY5	CRML_HUMAN	I	1178;1178;1175;553	.	ENSP00000262317:M553I	M	+	3	0	CRAMP1L	1660700	1.000000	0.71417	0.996000	0.52242	0.551000	0.35334	3.032000	0.49736	2.813000	0.96785	0.655000	0.94253	ATG	CRAMP1L	-	NULL	ENSG00000007545		0.577	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	90	0.00	0	G			1720699	1720699	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	missense	65	36.89	38	SNP	0.999	T
CRISPLD1	83690	genome.wustl.edu	37	8	75925200	75925200	+	Silent	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:75925200A>G	ENST00000262207.4	+	4	921	c.453A>G	c.(451-453)gaA>gaG	p.E151E	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.N4S	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	151	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATGAACATGAATGCAACCCAT	0.393																																						dbGAP											0													121.0	106.0	111.0					8																	75925200		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.453A>G	8.37:g.75925200A>G			B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.N4S	ENST00000262207.4	37	c.11	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708294	0.68615	.	.	ENSG00000121005	ENST00000517786	D	0.84370	-1.84	5.24	1.6	0.23607	.	.	.	.	.	D	0.89921	0.6855	.	.	.	0.45676	D	0.998599	D	0.58268	0.982	D	0.67548	0.952	D	0.87342	0.2332	8	0.56958	D	0.05	.	8.6027	0.33754	0.7753:0.0:0.2247:0.0	.	4	B7Z929	.	S	4	ENSP00000429746:N4S	ENSP00000429746:N4S	N	+	2	0	CRISPLD1	76087755	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.719000	0.25881	0.133000	0.18654	0.455000	0.32223	AAT	CRISPLD1	-	NULL	ENSG00000121005		0.393	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	35	0.00	0	A	NM_031461		75925200	75925200	+1	no_errors	ENST00000517786	ensembl	human	putative	69_37n	missense	79	63.93	140	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16945452	16945452	+	lincRNA	SNP	C	C	T	rs11260834	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:16945452C>T	ENST00000412962.1	-	0	2067				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCCCTACGACGGCAGGCCTA	0.647																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945452C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.647	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	36	0.00	0	C	NR_026752.1		16945452	16945452	-1	no_errors	ENST00000412962	ensembl	human	known	69_37n	rna	21	27.59	8	SNP	0.000	T
CSPG4	1464	genome.wustl.edu	37	15	75982227	75982227	+	Silent	SNP	T	T	G	rs78884605	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:75982227T>G	ENST00000308508.5	-	3	1271	c.1179A>C	c.(1177-1179)ggA>ggC	p.G393G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	393	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTTCATAATGTCCATAGGCAT	0.627																																						dbGAP											0													20.0	20.0	20.0					15																	75982227		2186	4287	6473	-	-	-	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1179A>C	15.37:g.75982227T>G			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.G393	ENST00000308508.5	37	c.1179	CCDS10284.1	15																																																																																			CSPG4	-	NULL	ENSG00000173546		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	8	0.00	0	T	NM_001897		75982227	75982227	-1	no_errors	ENST00000308508	ensembl	human	known	69_37n	silent	2	66.67	4	SNP	0.002	G
CTAGE9	643854	genome.wustl.edu	37	6	132030560	132030560	+	Missense_Mutation	SNP	G	G	A	rs200750273	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:132030560G>A	ENST00000314099.8	-	1	1646	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	533						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						AAAAGCTCTCGTTTCAGATGA	0.502													g|||	1565	0.3125	0.6014	0.2695	5008	,	,		24449	0.3165		0.0577	False		,,,				2504	0.2106					dbGAP											0													1.0	1.0	1.0					6																	132030560		47	135	182	-	-	-	SO:0001583	missense	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1598C>T	6.37:g.132030560G>A	ENSP00000395587:p.Thr533Met			Missense_Mutation	SNP	NULL	p.T533M	ENST00000314099.8	37	c.1598	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	0.865	-0.733899	0.03111	.	.	ENSG00000236761	ENST00000314099	T	0.47869	0.83	.	.	.	.	.	.	.	.	T	0.15869	0.0382	L	0.31476	0.935	0.80722	P	0.0	B	0.25105	0.118	B	0.22601	0.04	T	0.07558	-1.0766	5	0.39692	T	0.17	.	.	.	.	.	533	A4FU28	CTGE9_HUMAN	M	533	ENSP00000395587:T533M	ENSP00000395587:T533M	T	-	2	0	CTAGE9	132072253	1.000000	0.71417	.	.	.	.	1.109000	0.31135	.	.	.	.	ACG	CTAGE9	-	NULL	ENSG00000236761		0.502	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	33	0.00	0	G	NM_001145659		132030560	132030560	-1	no_errors	ENST00000314099	ensembl	human	known	69_37n	missense	46	50.00	46	SNP	0.000	A
CTAGE9	643854	genome.wustl.edu	37	6	132030966	132030966	+	Missense_Mutation	SNP	G	G	C	rs202051647	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:132030966G>C	ENST00000314099.8	-	1	1240	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	398						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TTCCTGTAGAGTTTCATTTCA	0.343													g|||	1659	0.33127	0.6316	0.2997	5008	,	,		19300	0.3204		0.0825	False		,,,				2504	0.2147					dbGAP											0													18.0	14.0	15.0					6																	132030966		692	1574	2266	-	-	-	SO:0001583	missense	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1192C>G	6.37:g.132030966G>C	ENSP00000395587:p.Leu398Val			Missense_Mutation	SNP	NULL	p.L398V	ENST00000314099.8	37	c.1192	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	7.709	0.694789	0.15039	.	.	ENSG00000236761	ENST00000314099	T	0.37915	1.17	.	.	.	.	.	.	.	.	T	0.48447	0.1500	M	0.91561	3.22	0.32510	P	0.537709	D	0.76494	0.999	D	0.74023	0.982	T	0.44159	-0.9346	7	0.87932	D	0	.	5.8178	0.18506	0.001:0.0:0.999:0.0	.	398	A4FU28	CTGE9_HUMAN	V	398	ENSP00000395587:L398V	ENSP00000395587:L398V	L	-	1	0	CTAGE9	132072659	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.675000	0.25232	-0.000000	0.14550	0.000000	0.15137	CTC	CTAGE9	-	NULL	ENSG00000236761		0.343	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	56	0.00	0	G	NM_001145659		132030966	132030966	-1	no_errors	ENST00000314099	ensembl	human	known	69_37n	missense	176	43.95	138	SNP	0.969	C
CTSL	1514	genome.wustl.edu	37	9	90343780	90343780	+	Intron	SNP	A	A	C	rs2378757	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:90343780A>C	ENST00000343150.5	+	5	1511				CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Nonstop_Mutation_p.*226S|CTSL_ENST00000340342.6_Intron			P07711	CATL1_HUMAN	cathepsin L						adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										TGGACACTTTAAGAGATAACA	0.493													C|||	3982	0.795128	0.8298	0.6311	5008	,	,		20200	0.9831		0.6402	False		,,,				2504	0.8303					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.621+56A>C	9.37:g.90343780A>C			Q6IAV1|Q96QJ0	Nonstop_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C	p.*226S	ENST00000343150.5	37	c.677	CCDS6675.1	9	1691	0.7742673992673993	410	0.8333333333333334	234	0.6464088397790055	557	0.9737762237762237	490	0.6464379947229552	C	1.179	-0.638569	0.03557	.	.	ENSG00000135047	ENST00000342020	.	.	.	3.98	-5.49	0.02584	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3536	0.00353	0.2392:0.1623:0.2362:0.3623	rs2378757;rs57222662;rs2378757	.	.	.	S	226	.	.	X	+	2	2	CTSL1	89533600	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.084000	0.03393	-1.344000	0.02216	-0.121000	0.15023	TAA	CTSL1	-	NULL	ENSG00000135047		0.493	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL1	HGNC	protein_coding	OTTHUMT00000052936.1	79	0.00	0	A	NM_001912		90343780	90343780	+1	no_errors	ENST00000342020	ensembl	human	known	69_37n	nonstop	0	100.00	49	SNP	0.000	C
CT55	54967	genome.wustl.edu	37	X	134294370	134294370	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:134294370G>A	ENST00000276241.6	-	3	616	c.390C>T	c.(388-390)aaC>aaT	p.N130N	CXorf48_ENST00000344129.2_Silent_p.N130N	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		130										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AATAAATGCTGTTACTAATAT	0.313																																						dbGAP											0													18.0	17.0	17.0					X																	134294370		2196	4282	6478	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000276241.6:c.390C>T	X.37:g.134294370G>A			Q9NWY8	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.N130	ENST00000276241.6	37	c.390	CCDS35400.1	X																																																																																			CXorf48	-	NULL	ENSG00000169551		0.313	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXorf48	HGNC	protein_coding	OTTHUMT00000058404.1	22	0.00	0	G			134294370	134294370	-1	no_errors	ENST00000276241	ensembl	human	known	69_37n	silent	64	40.74	44	SNP	0.000	A
CYB561A3	220002	genome.wustl.edu	37	11	61124159	61124159	+	Silent	SNP	G	G	A	rs371810863		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:61124159G>A	ENST00000294072.4	-	3	704	c.27C>T	c.(25-27)tcC>tcT	p.S9S	CYB561A3_ENST00000447532.2_Silent_p.S9S|CYB561A3_ENST00000539890.1_Silent_p.S9S|CYB561A3_ENST00000546151.1_Silent_p.S9S|CYB561A3_ENST00000544118.1_Silent_p.S9S|CYB561A3_ENST00000536915.1_Silent_p.S9S|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000426130.2_Silent_p.S26S	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	9						integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										GCAGCAGGCAGGACAAGTAGA	0.532																																						dbGAP											0													142.0	134.0	137.0					11																	61124159		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.27C>T	11.37:g.61124159G>A			B3KPU2|B4DLN9|J3KQH4|Q6PK96	Silent	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.S26	ENST00000294072.4	37	c.78	CCDS8004.1	11																																																																																			CYBASC3	-	NULL	ENSG00000162144		0.532	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBASC3	HGNC	protein_coding	OTTHUMT00000398714.2	69	0.00	0	G	NM_153611		61124159	61124159	-1	no_errors	ENST00000426130	ensembl	human	known	69_37n	silent	41	30.51	18	SNP	0.791	A
CYP21A2	1589	genome.wustl.edu	37	6	32008451	32008451	+	Silent	SNP	C	C	T	rs201005294	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32008451C>T	ENST00000418967.2	+	9	1283	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	CYP21A2_ENST00000435122.2_Silent_p.S345S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	374			G -> S (in hyperandrogenism; due to 21- hydroxylase deficiency; almost completely abolished enzyme activity). {ECO:0000269|PubMed:12050257}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCAGCATCTCCGGCTACGACA	0.632																																					Melanoma(174;1669 1998 3915 34700 46447)	dbGAP											0													8.0	10.0	9.0					6																	32008451		1394	2479	3873	-	-	-	SO:0001819	synonymous_variant	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1125C>T	6.37:g.32008451C>T			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	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.S375	ENST00000418967.2	37	c.1125	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B	ENSG00000231852		0.632	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	27	0.00	0	C	NM_000500		32008451	32008451	+1	no_errors	ENST00000418967	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	0.000	T
CYP2A7P1	1550	genome.wustl.edu	37	19	41531522	41531522	+	IGR	SNP	G	G	T	rs11670865	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:41531522G>T								CYP2B6 (7219 upstream) : CYP2A13 (62854 downstream)																							CCCGTGGAGGGTGCCGTGAAC	0.577													T|||	1666	0.332668	0.4092	0.4539	5008	,	,		17007	0.1657		0.2773	False		,,,				2504	0.3722					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															19.37:g.41531522G>T				Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	p.P207T		37	c.619		19	625	0.28617216117216115	186	0.3780487804878049	157	0.43370165745856354	83	0.1451048951048951	199	0.262532981530343	T	0.759	-0.770067	0.02974	.	.	ENSG00000213908	ENST00000301171	.	.	.	3.35	-1.04	0.10068	.	0.253530	0.37348	N	0.002122	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.45160	-0.9280	5	0.13470	T	0.59	.	6.1061	0.20073	0.625:0.0:0.132:0.243	rs11670865;rs11670865	.	.	.	T	207	.	ENSP00000301171:P207T	P	-	1	0	CYP2A7P1	46223362	0.019000	0.18553	0.000000	0.03702	0.011000	0.07611	0.324000	0.19610	-0.549000	0.06191	-1.228000	0.01579	CCC	CYP2A7P1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000213908	0	0.577					CYP2A7P1	HGNC			35	0.00	0	G			41531522	41531522	-1	no_start_codon:no_stop_codon	ENST00000301171	ensembl	human	known	69_37n	missense	28	47.17	25	SNP	0.026	T
NDUFA6-AS1	100132273	genome.wustl.edu	37	22	42537623	42537623	+	RNA	SNP	C	C	A	rs73167167	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:42537623C>A	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000433992.1_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		CGGCAAGGAACAGGTTACCCA	0.612													c|||	39	0.00778754	0.0023	0.0115	5008	,	,		21103	0.0		0.0209	False		,,,				2504	0.0072					dbGAP											0																																										-	-	-			0			BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537623C>A				Missense_Mutation	SNP	NULL	p.V303F	ENST00000416037.2	37	c.907		22																																																																																			CYP2D7P1	-	NULL	ENSG00000205702		0.612	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	CYP2D7P1	HGNC	processed_transcript	OTTHUMT00000320522.4	30	0.00	0	C	NR_034118		42537623	42537623	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433992	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.985	A
CYP2F1	1572	genome.wustl.edu	37	19	41631415	41631415	+	Silent	SNP	C	C	A	rs137939255	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:41631415C>A	ENST00000331105.2	+	9	1242	c.1170C>A	c.(1168-1170)acC>acA	p.T390T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	390					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ATGTCATCACCCTCCTTAACA	0.557													c|||	1324	0.264377	0.348	0.3271	5008	,	,		19834	0.1915		0.2356	False		,,,				2504	0.2117					dbGAP											0													11.0	12.0	12.0					19																	41631415		2146	4195	6341	-	-	-	SO:0001819	synonymous_variant	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1170C>A	19.37:g.41631415C>A			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450	p.P24T	ENST00000331105.2	37	c.70	CCDS12572.1	19	550	0.2518315018315018	155	0.3150406504065041	106	0.292817679558011	100	0.17482517482517482	189	0.24934036939313983	c	0.335	-0.954101	0.02285	.	.	ENSG00000197446	ENST00000439903	.	.	.	3.19	-2.28	0.06826	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999977968	.	.	.	.	.	.	T	0.42531	-0.9446	3	.	.	.	.	1.6636	0.02797	0.1605:0.4644:0.1578:0.2173	.	.	.	.	T	24	.	.	P	+	1	0	CYP2F1	46323255	0.000000	0.05858	0.360000	0.25837	0.299000	0.27559	-2.129000	0.01313	-0.207000	0.10187	0.089000	0.15464	CCT	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197446		0.557	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	60	0.00	0	C			41631415	41631415	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000439903	ensembl	human	putative	69_37n	missense	55	27.63	21	SNP	0.039	A
CYSTM1	84418	genome.wustl.edu	37	5	139574198	139574198	+	Missense_Mutation	SNP	G	G	A	rs200380290		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:139574198G>A	ENST00000261811.4	+	2	812	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	CYSTM1_ENST00000509789.2_Intron|AC011379.1_ENST00000583981.1_RNA	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	50	Pro-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCACAGTACGGCTGGCAGGG	0.552													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17780	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													51.0	49.0	49.0					5																	139574198		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.148G>A	5.37:g.139574198G>A	ENSP00000261811:p.Gly50Ser		Q8TBA5	Missense_Mutation	SNP	NULL	p.G50S	ENST00000261811.4	37	c.148	CCDS4221.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.47	3.833967	0.71373	.	.	ENSG00000120306	ENST00000261811	T	0.70631	-0.5	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	.	.	.	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.73525	-0.3955	9	0.13470	T	0.59	-8.4632	16.0311	0.80577	0.0:0.0:1.0:0.0	.	50	Q9H1C7	CE032_HUMAN	S	50	ENSP00000261811:G50S	ENSP00000261811:G50S	G	+	1	0	C5orf32	139554382	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.924000	0.70054	2.534000	0.85438	0.655000	0.94253	GGC	CYSTM1	-	NULL	ENSG00000120306		0.552	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSTM1	HGNC	protein_coding	OTTHUMT00000251342.2	45	0.00	0	G	NM_032412		139574198	139574198	+1	no_errors	ENST00000261811	ensembl	human	known	69_37n	missense	37	54.88	45	SNP	0.998	A
DCAF4	26094	genome.wustl.edu	37	14	73425681	73425681	+	3'UTR	SNP	A	A	C	rs7144738	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:73425681A>C	ENST00000358377.2	+	0	1876				DCAF4_ENST00000353777.3_3'UTR|DCAF4_ENST00000394234.2_3'UTR|DCAF4_ENST00000555042.1_3'UTR	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						ATGCTCAGGAAAGTTATTTGA	0.408													A|||	1239	0.247404	0.1551	0.255	5008	,	,		19922	0.1756		0.2604	False		,,,				2504	0.4274					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.*168A>C	14.37:g.73425681A>C			B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	RNA	SNP	-	NULL	ENST00000358377.2	37	NULL	CCDS9809.1	14																																																																																			DCAF4	-	-	ENSG00000119599		0.408	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1	22	0.00	0	A	NM_015604		73425681	73425681	+1	no_errors	ENST00000555992	ensembl	human	putative	69_37n	rna	0	100.00	5	SNP	0.007	C
DCLRE1A	9937	genome.wustl.edu	37	10	115607018	115607018	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:115607018A>T	ENST00000361384.2	-	3	3119	c.2202T>A	c.(2200-2202)caT>caA	p.H734Q	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.H734Q	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	734					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)		AATGATCAGAATGAAAATGTG	0.378								Other identified genes with known or suspected DNA repair function																														dbGAP											0													107.0	100.0	103.0					10																	115607018		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.2202T>A	10.37:g.115607018A>T	ENSP00000355185:p.His734Gln		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.H734Q	ENST00000361384.2	37	c.2202	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028351	0.75390	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.94793	-3.52;-3.52	6.03	1.01	0.19927	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	H	0.95850	3.73	0.47441	D	0.99942	D	0.89917	1.0	D	0.97110	1.0	D	0.96422	0.9312	10	0.87932	D	0	-23.9756	9.7676	0.40570	0.6309:0.0:0.3691:0.0	.	734	Q6PJP8	DCR1A_HUMAN	Q	734	ENSP00000355185:H734Q;ENSP00000358311:H734Q	ENSP00000355185:H734Q	H	-	3	2	DCLRE1A	115597008	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.850000	0.39328	-0.063000	0.13065	-0.256000	0.11100	CAT	DCLRE1A	-	NULL	ENSG00000198924		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	57	0.00	0	A	NM_014881		115607018	115607018	-1	no_errors	ENST00000361384	ensembl	human	known	69_37n	missense	66	44.07	52	SNP	1.000	T
DENND1A	57706	genome.wustl.edu	37	9	126146024	126146024	+	Silent	SNP	G	G	A	rs567551281		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:126146024G>A	ENST00000373624.2	-	21	1947	c.1746C>T	c.(1744-1746)gcC>gcT	p.A582A	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.A593A|DENND1A_ENST00000542603.1_Silent_p.A367A	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	582					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						GCTGCAGTGCGGCCTCCATGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17284	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													74.0	69.0	71.0					9																	126146024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1746C>T	9.37:g.126146024G>A			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A593	ENST00000373624.2	37	c.1779	CCDS35133.1	9																																																																																			DENND1A	-	NULL	ENSG00000119522		0.617	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	26	0.00	0	G	NM_024820		126146024	126146024	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	0.000	A
DGCR5	26220	genome.wustl.edu	37	22	18979384	18979384	+	RNA	SNP	C	C	T	rs574262130		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:18979384C>T	ENST00000421572.1	+	0	1136				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000438934.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		TGGTGTACAGCGAGGGGGCTC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18347	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-			0			X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18979384C>T				RNA	SNP	-	NULL	ENST00000421572.1	37	NULL		22																																																																																			DGCR5	-	-	ENSG00000237517		0.572	DGCR5-004	KNOWN	basic|exp_conf	antisense	DGCR5	HGNC	antisense	OTTHUMT00000316630.1	15	0.00	0	C	NR_002733		18979384	18979384	+1	no_errors	ENST00000438934	ensembl	human	known	69_37n	rna	3	72.73	8	SNP	0.957	T
DIS3L2	129563	genome.wustl.edu	37	2	233028305	233028305	+	Missense_Mutation	SNP	A	A	G	rs540563766		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:233028305A>G	ENST00000409307.1	+	8	1087	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	DIS3L2_ENST00000273009.6_Missense_Mutation_p.I363V|DIS3L2_ENST00000325385.7_Missense_Mutation_p.I363V					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCCATGGACAATTCCACCAGA	0.443																																						dbGAP											0													70.0	71.0	70.0					2																	233028305		1875	4103	5978	-	-	-	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1087A>G	2.37:g.233028305A>G	ENSP00000386799:p.Ile363Val			Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.I363V	ENST00000409307.1	37	c.1087	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	a	14.86	2.660117	0.47572	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307	T;T;T	0.43294	1.58;0.95;0.95	5.06	1.3	0.21679	.	0.129859	0.50627	N	0.000118	T	0.36248	0.0960	L	0.59436	1.845	0.80722	D	1	B	0.30824	0.296	B	0.37091	0.241	T	0.07009	-1.0795	10	0.13108	T	0.6	-2.6774	8.455	0.32893	0.7589:0.0:0.241:0.0	.	363	Q8IYB7	DI3L2_HUMAN	V	363	ENSP00000273009:I363V;ENSP00000315569:I363V;ENSP00000386799:I363V	ENSP00000273009:I363V	I	+	1	0	DIS3L2	232736549	1.000000	0.71417	0.931000	0.37212	0.992000	0.81027	2.650000	0.46665	-0.018000	0.14079	-0.377000	0.06932	ATT	DIS3L2	-	NULL	ENSG00000144535		0.443	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	42	0.00	0	A	NM_152383		233028305	233028305	+1	no_errors	ENST00000325385	ensembl	human	known	69_37n	missense	44	48.24	41	SNP	1.000	G
DKC1	1736	genome.wustl.edu	37	X	154005088	154005089	+	In_Frame_Ins	INS	-	-	AAG			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:154005088_154005089insAAG	ENST00000369550.5	+	15	1701_1702	c.1491_1492insAAG	c.(1492-1494)aag>AAGaag	p.498_498K>KK	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	498	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	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)					GTGATACCACCaagaagaagaa	0.411									Congenital Dyskeratosis					34	0.00900662	0.0008	0.0072	3775	,	,		16089	0.0		0.004	False		,,,				2504	0.0245					dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1510_1512dupAAG	X.37:g.154005095_154005097dupAAG	ENSP00000358563:p.Lys505dup		F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Ins	INS	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451	p.501in_frame_insK	ENST00000369550.5	37	c.1491_1492	CCDS14761.1	X																																																																																			DKC1	-	NULL	ENSG00000130826		0.411	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	265	0.00	0	-	NM_001363		154005088	154005089	+1	no_errors	ENST00000369550	ensembl	human	known	69_37n	in_frame_ins	276	28.50	110	INS	0.114:0.284	AAG
DLL3	10683	genome.wustl.edu	37	19	39994719	39994719	+	Nonsense_Mutation	SNP	C	C	T	rs200275281	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:39994719C>T	ENST00000205143.4	+	5	668	c.661C>T	c.(661-663)Cga>Tga	p.R221*	DLL3_ENST00000356433.5_Nonsense_Mutation_p.R221*	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	221	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	p.R221*(1)		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)			AGTGGTGTGCCGAGCAGGCTG	0.612																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											72.0	65.0	68.0					19																	39994719		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.661C>T	19.37:g.39994719C>T	ENSP00000205143:p.Arg221*		E9PFG2|Q8NBS4	Nonsense_Mutation	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.R221*	ENST00000205143.4	37	c.661	CCDS12538.1	19	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018158	0.54576	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	.	.	.	4.87	4.87	0.63330	.	0.405345	0.18435	N	0.141304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3303	0.38018	0.0:0.904:0.0:0.096	.	.	.	.	X	221	.	.	R	+	1	2	DLL3	44686559	0.001000	0.12720	0.628000	0.29241	0.017000	0.09413	0.449000	0.21744	2.698000	0.92095	0.561000	0.74099	CGA	DLL3	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000090932		0.612	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	108	0.00	0	C			39994719	39994719	+1	no_errors	ENST00000205143	ensembl	human	known	69_37n	nonsense	25	21.88	7	SNP	0.456	T
DMXL1	1657	genome.wustl.edu	37	5	118484655	118484655	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:118484655A>G	ENST00000311085.8	+	18	3213	c.3133A>G	c.(3133-3135)Agg>Ggg	p.R1045G	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1045G	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1045										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)		TGTACCTGGTAGGCCTGTAGA	0.393																																						dbGAP											0													157.0	149.0	152.0					5																	118484655		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.3133A>G	5.37:g.118484655A>G	ENSP00000309690:p.Arg1045Gly			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1045G	ENST00000311085.8	37	c.3133	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304261	0.40795	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.35605	1.3;1.3	5.5	5.5	0.81552	.	0.137147	0.64402	D	0.000003	T	0.45397	0.1340	M	0.78049	2.395	0.44261	D	0.997116	P;P	0.47762	0.9;0.565	P;B	0.44990	0.466;0.276	T	0.52689	-0.8542	10	0.66056	D	0.02	-12.3903	12.4387	0.55614	0.8601:0.1398:0.0:0.0	.	1045;1045	F5H269;Q9Y485	.;DMXL1_HUMAN	G	1045	ENSP00000309690:R1045G;ENSP00000439479:R1045G	ENSP00000309690:R1045G	R	+	1	2	DMXL1	118512554	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	2.950000	0.49081	2.216000	0.71823	0.533000	0.62120	AGG	DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.393	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	45	0.00	0	A	NM_005509		118484655	118484655	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	missense	63	47.50	57	SNP	1.000	G
DNAH14	127602	genome.wustl.edu	37	1	225195233	225195233	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:225195233G>A	ENST00000445597.2	+	8	1151	c.1151G>A	c.(1150-1152)aGt>aAt	p.S384N	DNAH14_ENST00000366849.1_Missense_Mutation_p.S342N|DNAH14_ENST00000430092.1_Missense_Mutation_p.S365N|DNAH14_ENST00000439375.2_Missense_Mutation_p.S365N|DNAH14_ENST00000400952.3_Missense_Mutation_p.S365N			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	384					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GAGATGAAAAGTACTTTTCTA	0.328																																						dbGAP											0													53.0	50.0	51.0					1																	225195233		692	1591	2283	-	-	-	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1151G>A	1.37:g.225195233G>A	ENSP00000409472:p.Ser384Asn		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.S365N	ENST00000445597.2	37	c.1094		1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548462	0.45383	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000400952;ENST00000366849;ENST00000439375	T;T;T;T;T	0.32023	2.52;1.48;1.5;1.47;1.48	5.65	-3.39	0.04868	.	1.089630	0.06955	N	0.815361	T	0.16599	0.0399	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.004	B;B;B	0.12156	0.003;0.007;0.003	T	0.28618	-1.0038	10	0.18710	T	0.47	.	4.2226	0.10565	0.4182:0.0:0.3169:0.2649	.	365;365;384	Q0VDD8-4;Q0VDD8-2;Q0VDD8	.;.;DYH14_HUMAN	N	384;365;365;342;365	ENSP00000409472:S384N;ENSP00000414402:S365N;ENSP00000383737:S365N;ENSP00000355814:S342N;ENSP00000392061:S365N	ENSP00000355814:S342N	S	+	2	0	DNAH14	223261856	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.765000	0.01799	-0.895000	0.03920	0.543000	0.68304	AGT	DNAH14	-	NULL	ENSG00000185842		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	20	0.00	0	G	XM_059166		225195233	225195233	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	72	43.75	56	SNP	0.000	A
DNAH14	127602	genome.wustl.edu	37	1	225534348	225534348	+	Missense_Mutation	SNP	G	G	A	rs7535953	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:225534348G>A	ENST00000445597.2	+	49	8600	c.8600G>A	c.(8599-8601)aGa>aAa	p.R2867K	DNAH14_ENST00000430092.1_Missense_Mutation_p.R3670K|DNAH14_ENST00000439375.2_Missense_Mutation_p.R3670K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2867					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCCCAGTCTAGACTTACTAGT	0.338													G|||	2650	0.529153	0.6407	0.4697	5008	,	,		17939	0.5089		0.4046	False		,,,				2504	0.5695					dbGAP											0													48.0	44.0	45.0					1																	225534348		692	1585	2277	-	-	-	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.8600G>A	1.37:g.225534348G>A	ENSP00000409472:p.Arg2867Lys		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.R3670K	ENST00000445597.2	37	c.11009		1	1054	0.4826007326007326	302	0.6138211382113821	165	0.4558011049723757	281	0.49125874125874125	306	0.40369393139841686	G	1.991	-0.431729	0.04669	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.39997	1.05;1.05;1.05	4.94	-3.81	0.04294	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.40213	-0.9575	7	0.02654	T	1	.	6.7277	0.23365	0.6059:0.0:0.272:0.1221	rs7535953;rs17522510;rs52812222;rs58063527;rs7535953	3670	Q0VDD8-4	.	K	2867;3670;3670	ENSP00000409472:R2867K;ENSP00000414402:R3670K;ENSP00000392061:R3670K	ENSP00000414402:R3670K	R	+	2	0	DNAH14	223600971	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	-0.207000	0.09384	-0.823000	0.04301	-0.357000	0.07601	AGA	DNAH14	-	NULL	ENSG00000185842		0.338	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	21	0.00	0	G	XM_059166		225534348	225534348	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	41	64.66	75	SNP	0.000	A
DNAH3	55567	genome.wustl.edu	37	16	20976176	20976176	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:20976176G>A	ENST00000261383.3	-	53	9029	c.9030C>T	c.(9028-9030)ggC>ggT	p.G3010G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3010					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)		CTGTAAAAGCGCCCAGGTAAG	0.527																																						dbGAP											0													83.0	79.0	81.0					16																	20976176		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	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.9030C>T	16.37:g.20976176G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.G3010	ENST00000261383.3	37	c.9030	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	58	0.00	0	G	NM_017539		20976176	20976176	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	49	51.00	51	SNP	0.283	A
DRG2	1819	genome.wustl.edu	37	17	18002987	18002987	+	Silent	SNP	G	G	A	rs376536885	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:18002987G>A	ENST00000225729.3	+	5	555	c.417G>A	c.(415-417)acG>acA	p.T139T	DRG2_ENST00000395726.4_Silent_p.T139T|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	139	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGGCGCGCACGGCTGACGTCA	0.617													G|||	13	0.00259585	0.0	0.0014	5008	,	,		18331	0.001		0.0	False		,,,				2504	0.0112					dbGAP											0													58.0	40.0	46.0					17																	18002987		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.417G>A	17.37:g.18002987G>A			B2R8G5|Q53Y50|Q9BWB2	Silent	SNP	pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.T139	ENST00000225729.3	37	c.417	CCDS11191.1	17																																																																																			DRG2	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	ENSG00000108591		0.617	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG2	HGNC	protein_coding	OTTHUMT00000132075.3	20	0.00	0	G	NM_001388		18002987	18002987	+1	no_errors	ENST00000225729	ensembl	human	known	69_37n	silent	7	56.25	9	SNP	0.026	A
EIF2AK4	440275	genome.wustl.edu	37	15	40259951	40259951	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:40259951C>T	ENST00000263791.5	+	9	1467	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T475M|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T475M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	475	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CCTTATAAAACGGGGAAGAAA	0.493																																						dbGAP											0													129.0	122.0	124.0					15																	40259951		1974	4163	6137	-	-	-	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.1424C>T	15.37:g.40259951C>T	ENSP00000263791:p.Thr475Met		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.T475M	ENST00000263791.5	37	c.1424	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682162	0.68042	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.73681	-0.77;-0.77	5.63	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206560	0.44097	D	0.000482	T	0.74397	0.3711	L	0.28400	0.85	0.31260	N	0.692958	D;D	0.61697	0.99;0.987	P;P	0.56398	0.797;0.681	T	0.75698	-0.3227	10	0.34782	T	0.22	-10.612	15.1109	0.72355	0.0:0.7317:0.2683:0.0	.	475;475	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	M	475	ENSP00000263791:T475M;ENSP00000372174:T475M	ENSP00000263791:T475M	T	+	2	0	EIF2AK4	38047243	0.999000	0.42202	0.906000	0.35671	0.994000	0.84299	3.948000	0.56660	1.468000	0.48064	0.650000	0.86243	ACG	EIF2AK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_cat_dom	ENSG00000128829		0.493	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	142	0.00	0	C			40259951	40259951	+1	no_errors	ENST00000263791	ensembl	human	known	69_37n	missense	62	46.09	53	SNP	0.980	T
ELFN1	392617	genome.wustl.edu	37	7	1785738	1785738	+	Silent	SNP	G	G	A	rs61236605	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:1785738G>A	ENST00000424383.2	+	3	1993	c.1506G>A	c.(1504-1506)gcG>gcA	p.A502A	ELFN1_ENST00000541472.1_Silent_p.A502A|ELFN1_ENST00000561626.1_Silent_p.A502A			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	502					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						ACCTGCCTGCGGCCGGCGAGG	0.711													G|||	684	0.136581	0.0325	0.1138	5008	,	,		13818	0.1042		0.2018	False		,,,				2504	0.2597					dbGAP											0													32.0	37.0	35.0					7																	1785738		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1506G>A	7.37:g.1785738G>A			H3BS57	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A502	ENST00000424383.2	37	c.1506	CCDS59046.1	7																																																																																			ELFN1	-	NULL	ENSG00000225968		0.711	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	20	0.00	0	G	NM_001128636		1785738	1785738	+1	no_errors	ENST00000424383	ensembl	human	known	69_37n	silent	3	75.00	9	SNP	0.000	A
PDXDC2P	283970	genome.wustl.edu	37	16	70016573	70016573	+	RNA	SNP	G	G	A	rs3748384	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:70016573G>A	ENST00000531894.1	-	0	2361				RP11-419C5.2_ENST00000525562.1_RNA	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)										TCCTGTCTACGGCGGTTGGAC	0.483													.|||	2788	0.556709	0.4546	0.428	5008	,	,		18600	0.8869		0.3837	False		,,,				2504	0.6237					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.70016573G>A			A8K9Z5	Missense_Mutation	SNP	pfam_NPIP	p.R98C	ENST00000531894.1	37	c.292		16	1036	0.47435897435897434	191	0.3882113821138211	154	0.425414364640884	428	0.7482517482517482	263	0.3469656992084433	.	2.732	-0.264143	0.05754	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.46063	0.88;0.88	0.659	-1.01	0.10169	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.17038	0.02	B	0.16722	0.016	T	0.29366	-1.0014	6	0.54805	T	0.06	.	.	.	.	rs3748384;rs8046901;rs3748384	94	A8MZ50	NPIL4_HUMAN	C	113;98	ENSP00000448651:R113C;ENSP00000449128:R98C	ENSP00000449128:R98C	R	-	1	0	RP11-419C5.2	68574074	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.614000	0.05604	-0.254000	0.09500	-0.576000	0.04144	CGT	RP11-419C5.2	-	pfam_NPIP	ENSG00000226232		0.483	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226232	Clone_based_vega_gene	processed_transcript	OTTHUMT00000395258.1	219	0.00	0	G			70016573	70016573	-1	no_errors	ENST00000325845	ensembl	human	known	69_37n	missense	0	100.00	194	SNP	0.000	A
EPB41L3	23136	genome.wustl.edu	37	18	5396207	5396207	+	Missense_Mutation	SNP	G	G	A	rs138017302		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr18:5396207G>A	ENST00000341928.2	-	19	3306	c.2966C>T	c.(2965-2967)tCa>tTa	p.S989L	EPB41L3_ENST00000544123.1_Missense_Mutation_p.S820L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S767L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S294L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S989L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S286L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S767L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	989	C-terminal (CTD).				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						CACCTGTGATGATTCATATGT	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20075	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													293.0	284.0	287.0					18																	5396207		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.2966C>T	18.37:g.5396207G>A	ENSP00000343158:p.Ser989Leu		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.S989L	ENST00000341928.2	37	c.2966	CCDS11838.1	18	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	35	5.532706	0.96446	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.84	5.84	0.93424	Band 4.1, C-terminal (1);	0.995384	0.08157	N	0.989114	D	0.88811	0.6538	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;P	0.89917	0.994;0.998;0.968;0.996;0.961;0.963;1.0;0.899	D;D;P;D;P;P;D;P	0.87578	0.981;0.997;0.743;0.965;0.655;0.775;0.998;0.837	D	0.84297	0.0503	10	0.72032	D	0.01	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	820;286;294;381;658;767;989;224	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	L	989;658;820;658;286;294;989;767	ENSP00000343158:S989L;ENSP00000441174:S820L;ENSP00000392195:S286L;ENSP00000442233:S294L;ENSP00000341138:S989L;ENSP00000382981:S767L	ENSP00000343158:S989L	S	-	2	0	EPB41L3	5386207	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	9.589000	0.98235	2.764000	0.94973	0.650000	0.86243	TCA	EPB41L3	-	pirsf_Band_41_protein,pfam_Band_4.1_C	ENSG00000082397		0.433	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	90	0.00	0	G	NM_012307		5396207	5396207	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	missense	143	35.29	78	SNP	1.000	A
ESPNP	284729	genome.wustl.edu	37	1	17033854	17033854	+	RNA	SNP	C	C	T	rs2476568	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:17033854C>T	ENST00000492551.1	-	0	624					NR_026567.1				espin pseudogene																		TCAGCGGCCGCGTACCCGTCG	0.682													t|||	2557	0.510583	0.4773	0.5086	5008	,	,		32962	0.5258		0.5268	False		,,,				2504	0.5245					dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17033854C>T				RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.682	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	12	0.00	0	C			17033854	17033854	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	1.000	T
ESYT3	83850	genome.wustl.edu	37	3	138179496	138179496	+	Missense_Mutation	SNP	C	C	T	rs201949984		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:138179496C>T	ENST00000389567.4	+	7	968	c.782C>T	c.(781-783)gCg>gTg	p.A261V	ESYT3_ENST00000289135.4_Missense_Mutation_p.A261V	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	261	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGCTGGATGCGCCGGGAATC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19533	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													151.0	157.0	155.0					3																	138179496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.782C>T	3.37:g.138179496C>T	ENSP00000374218:p.Ala261Val		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.A261V	ENST00000389567.4	37	c.782	CCDS3101.2	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.13	1.266681	0.23136	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	T;T	0.21932	1.98;1.98	5.09	3.26	0.37387	.	0.381626	0.30528	N	0.009423	T	0.07324	0.0185	N	0.02916	-0.46	0.09310	N	0.999999	B	0.20052	0.041	B	0.11329	0.006	T	0.36841	-0.9731	10	0.16896	T	0.51	-9.7295	7.0086	0.24849	0.0:0.7081:0.0:0.2919	.	261	A0FGR9	ESYT3_HUMAN	V	261	ENSP00000374218:A261V;ENSP00000289135:A261V	ENSP00000289135:A261V	A	+	2	0	ESYT3	139662186	0.000000	0.05858	0.164000	0.22755	0.776000	0.43924	-0.173000	0.09854	0.512000	0.28257	0.549000	0.68633	GCG	ESYT3	-	NULL	ENSG00000158220		0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	26	0.00	0	C	NM_031913		138179496	138179496	+1	no_errors	ENST00000389567	ensembl	human	known	69_37n	missense	30	47.37	27	SNP	0.176	T
F13A1	2162	genome.wustl.edu	37	6	6318791	6318791	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:6318791A>C	ENST00000264870.3	-	2	372	c.107T>G	c.(106-108)gTg>gGg	p.V36G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	36				Missing (in Ref. 9; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCCCCGGGGCACCACGCCCTG	0.612																																						dbGAP											0													135.0	117.0	123.0					6																	6318791		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.107T>G	6.37:g.6318791A>C	ENSP00000264870:p.Val36Gly		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V36G	ENST00000264870.3	37	c.107	CCDS4496.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.867|7.867	0.727368|0.727368	0.15439|0.15439	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000451619|ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.|D;D	.|0.86865	.|-2.18;-2.18	4.64|4.64	2.24|2.24	0.28232|0.28232	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|1.513960	.|0.03799	.|N	.|0.264180	T|T	0.63414|0.63414	0.2509|0.2509	N|N	0.19112|0.19112	0.55|0.55	0.41295|0.41295	D|D	0.987008|0.987008	.|B;B	.|0.31859	.|0.343;0.0	.|B;B	.|0.28139	.|0.086;0.0	T|T	0.53989|0.53989	-0.8360|-0.8360	5|10	.|0.28530	.|T	.|0.3	.|.	6.9942|6.9942	0.24772|0.24772	0.815:0.0:0.185:0.0|0.815:0.0:0.185:0.0	.|.	.|36;36	.|F5H080;P00488	.|.;F13A_HUMAN	G|G	61|36;36;36;74	.|ENSP00000264870:V36G;ENSP00000413334:V36G	.|ENSP00000264870:V36G	C|V	-|-	1|2	0|0	F13A1|F13A1	6263790|6263790	0.857000|0.857000	0.29778|0.29778	0.399000|0.399000	0.26333|0.26333	0.023000|0.023000	0.10783|0.10783	1.611000|1.611000	0.36879|0.36879	0.297000|0.297000	0.22615|0.22615	-0.269000|-0.269000	0.10298|0.10298	TGC|GTG	F13A1	-	superfamily_Ig_E-set	ENSG00000124491		0.612	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	17	0.00	0	A	NM_000129		6318791	6318791	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	missense	19	55.81	24	SNP	0.610	C
F13B	2165	genome.wustl.edu	37	1	197024939	197024939	+	Silent	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:197024939T>A	ENST00000367412.1	-	8	1303	c.1260A>T	c.(1258-1260)tcA>tcT	p.S420S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	420	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATATTCCACTGAGGATCCTG	0.408																																						dbGAP											0													103.0	97.0	99.0					1																	197024939		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1260A>T	1.37:g.197024939T>A			A8K3E5|Q5VYL5	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S420	ENST00000367412.1	37	c.1260	CCDS1388.1	1																																																																																			F13B	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000143278		0.408	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	34	0.00	0	T	NM_001994		197024939	197024939	-1	no_errors	ENST00000367412	ensembl	human	known	69_37n	silent	67	54.97	83	SNP	0.188	A
FAM115C	285966	genome.wustl.edu	37	7	143400301	143400301	+	Missense_Mutation	SNP	A	A	G	rs1568852		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:143400301A>G	ENST00000441159.2	+	2	280	c.214A>G	c.(214-216)Act>Gct	p.T72A	FAM115C_ENST00000357344.4_Missense_Mutation_p.T72A|FAM115C_ENST00000444908.2_Missense_Mutation_p.T72A|FAM115C_ENST00000411497.2_Intron			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	72				T -> A (in Ref. 1; AAN87343 and 5; AAI17234). {ECO:0000305}.	hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCTGTCGCATACTGGCTTGGC	0.602																																						dbGAP											0													27.0	57.0	49.0					7																	143400301		1221	3223	4444	-	-	-	SO:0001583	missense	0			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.214A>G	7.37:g.143400301A>G	ENSP00000404265:p.Thr72Ala		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.T72A	ENST00000441159.2	37	c.214		7	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.521307	0.00149	.	.	ENSG00000170379	ENST00000444908;ENST00000357344;ENST00000441159	T;T;T	0.21191	2.02;2.02;2.02	3.92	-4.7	0.03288	.	0.749503	0.12146	N	0.495365	T	0.01976	0.0062	N	0.00066	-2.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	10	0.02654	T	1	-0.7804	0.7285	0.00953	0.2312:0.2226:0.3213:0.2248	.	72	A6NFQ2-2	.	A	72	ENSP00000412724:T72A;ENSP00000349902:T72A;ENSP00000404265:T72A	ENSP00000349902:T72A	T	+	1	0	FAM115C	143031234	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.290000	0.08354	-1.506000	0.01805	-0.684000	0.03749	ACT	FAM115C	-	NULL	ENSG00000170379		0.602	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	21	0.00	0	A	NM_173678		143400301	143400301	+1	no_errors	ENST00000441159	ensembl	human	known	69_37n	missense	0	100.00	3	SNP	0.000	G
FAM120B	84498	genome.wustl.edu	37	6	170626570	170626570	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:170626570G>A	ENST00000476287.1	+	2	200	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.R43Q|FAM120B_ENST00000537664.1_Missense_Mutation_p.R54Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	31					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGCACCACCGAAGCAAGTAT	0.463																																						dbGAP											0													180.0	170.0	173.0					6																	170626570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.92G>A	6.37:g.170626570G>A	ENSP00000417970:p.Arg31Gln		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.R54Q	ENST00000476287.1	37	c.161	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	G	7.478	0.648152	0.14516	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.55760	0.5;0.5;0.5	5.98	2.76	0.32466	.	0.908921	0.09522	N	0.790770	T	0.16214	0.0390	N	0.16478	0.41	0.43065	D	0.994693	B;B	0.22800	0.075;0.075	B;B	0.15484	0.013;0.013	T	0.15665	-1.0429	10	0.25106	T	0.35	-15.8502	7.3226	0.26536	0.2068:0.0:0.6665:0.1267	.	31;31	Q96EK7;F2Z2E1	F120B_HUMAN;.	Q	43;54;31	ENSP00000444125:R43Q;ENSP00000440125:R54Q;ENSP00000417970:R31Q	ENSP00000436640:R31Q	R	+	2	0	FAM120B	170468495	0.080000	0.21391	0.715000	0.30552	0.055000	0.15305	0.382000	0.20635	0.834000	0.34852	0.655000	0.94253	CGA	FAM120B	-	NULL	ENSG00000112584		0.463	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	173	0.00	0	G	NM_032448		170626570	170626570	+1	no_errors	ENST00000537664	ensembl	human	known	69_37n	missense	81	48.73	77	SNP	0.203	A
FAM131C	348487	genome.wustl.edu	37	1	16385184	16385184	+	Silent	SNP	G	G	A	rs75273615	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:16385184G>A	ENST00000375662.4	-	7	774	c.591C>T	c.(589-591)agC>agT	p.S197S	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	197								p.S197S(1)		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)		CGCTGGGAAGGCTGTCCTGAA	0.642																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											20.0	20.0	20.0					1																	16385184		2002	4131	6133	-	-	-	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.591C>T	1.37:g.16385184G>A			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	superfamily_Chromodomain-like	p.S197	ENST00000375662.4	37	c.591	CCDS41270.1	1																																																																																			FAM131C	-	NULL	ENSG00000185519		0.642	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1	37	0.00	0	G	NM_182623		16385184	16385184	-1	no_errors	ENST00000375662	ensembl	human	known	69_37n	silent	7	65.00	13	SNP	0.976	A
FAM157A	728262	genome.wustl.edu	37	3	197882506	197882506	+	lincRNA	SNP	T	T	C	rs200246659	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:197882506T>C	ENST00000437428.2	+	0	160							C9JC47	F157A_HUMAN	family with sequence similarity 157, member A											NS(1)|skin(1)	2						CTCCGCCGGCTCTGGCTGCGG	0.592													N|||	3145	0.627995	0.6286	0.5245	5008	,	,		10322	0.624		0.5676	False		,,,				2504	0.7669					dbGAP											0													16.0	19.0	18.0					3																	197882506		382	1177	1559	-	-	-			0					3q29	2013-01-30			ENSG00000236438	ENSG00000236438			34079	other	unknown							Standard	NM_001145248		Approved		uc011bup.1	C9JC47			3.37:g.197882506T>C				Missense_Mutation	SNP	NULL	p.S125P	ENST00000437428.2	37	c.373		3	.	.	.	.	.	.	.	.	.	.	.	0.149	-1.093158	0.01858	.	.	ENSG00000236438	ENST00000431569	.	.	.	0.378	-0.646	0.11472	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22871	-1.0204	6	.	.	.	.	.	.	.	.	125	C9JC47	F157A_HUMAN	P	125	.	.	S	+	1	0	FAM157A	199366903	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.431000	0.06965	-1.294000	0.02360	-1.276000	0.01395	TCT	FAM157A	-	NULL	ENSG00000236438		0.592	FAM157A-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|basic	lincRNA	FAM157A	HGNC	lincRNA	OTTHUMT00000340078.2	26	0.00	0	T	NM_001145248		197882506	197882506	+1	no_errors	ENST00000431569	ensembl	human	known	69_37n	missense	0	100.00	7	SNP	0.002	C
FAM185A	222234	genome.wustl.edu	37	7	102417753	102417753	+	Missense_Mutation	SNP	T	T	G	rs201667800	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:102417753T>G	ENST00000413034.2	+	6	889	c.889T>G	c.(889-891)Tat>Gat	p.Y297D	FAM185A_ENST00000481697.1_3'UTR|FAM185A_ENST00000409231.3_Missense_Mutation_p.Y180D	NM_001145268.1	NP_001138740	Q8N0U4	F185A_HUMAN	family with sequence similarity 185, member A	297										kidney(1)	1						CATAGATGTTTATGTCAGCCA	0.343																																						dbGAP											0													37.0	30.0	32.0					7																	102417753		692	1576	2268	-	-	-	SO:0001583	missense	0			BC029175	CCDS47676.1, CCDS47677.1	7q22.1	2009-07-09			ENSG00000222011	ENSG00000222011			22412	protein-coding gene	gene with protein product							Standard	NM_001145268		Approved	MGC35361	uc011klf.2	Q8N0U4	OTTHUMG00000154140	ENST00000413034.2:c.889T>G	7.37:g.102417753T>G	ENSP00000395340:p.Tyr297Asp		A8MUR7|B4DQD3|C9IZ91	Missense_Mutation	SNP	NULL	p.Y297D	ENST00000413034.2	37	c.889	CCDS47676.1	7	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140376	0.37825	.	.	ENSG00000222011	ENST00000432852;ENST00000409231;ENST00000413034	T;T	0.48836	0.93;0.8	4.05	4.05	0.47172	.	.	.	.	.	T	0.63474	0.2514	M	0.78916	2.43	0.46849	D	0.999225	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.961;0.982	T	0.61888	-0.6970	9	0.21014	T	0.42	-9.9649	9.535	0.39218	0.0:0.0:0.0:1.0	.	197;180;297	B4DMG7;Q8N0U4-3;Q8N0U4	.;.;F185A_HUMAN	D	197;180;297	ENSP00000387066:Y180D;ENSP00000395340:Y297D	ENSP00000387066:Y180D	Y	+	1	0	FAM185A	102204989	1.000000	0.71417	0.993000	0.49108	0.492000	0.33523	2.697000	0.47060	1.815000	0.52974	0.358000	0.22013	TAT	FAM185A	-	NULL	ENSG00000222011		0.343	FAM185A-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM185A	HGNC	protein_coding	OTTHUMT00000349482.1	43	0.00	0	T	NM_001145268		102417753	102417753	+1	no_errors	ENST00000413034	ensembl	human	known	69_37n	missense	259	14.80	45	SNP	0.999	G
FAM186A	121006	genome.wustl.edu	37	12	50727706	50727706	+	Missense_Mutation	SNP	G	G	C	rs6580741	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:50727706G>C	ENST00000327337.5	-	5	6683	c.6684C>G	c.(6682-6684)caC>caG	p.H2228Q	FAM186A_ENST00000543111.1_Missense_Mutation_p.H2228Q|FAM186A_ENST00000543096.1_Missense_Mutation_p.H239Q	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	2228			H -> Q (in dbSNP:rs6580741). {ECO:0000269|Ref.3}.														GGTTGAATACGTGTATCATTT	0.448													g|||	1739	0.347244	0.3434	0.2565	5008	,	,		21530	0.2569		0.339	False		,,,				2504	0.5184				NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													217.0	171.0	185.0					12																	50727706		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.6684C>G	12.37:g.50727706G>C	ENSP00000329995:p.His2228Gln			Missense_Mutation	SNP	NULL	p.H2228Q	ENST00000327337.5	37	c.6684	CCDS44878.1	12	685	0.31364468864468864	180	0.36585365853658536	94	0.2596685082872928	160	0.27972027972027974	251	0.3311345646437995	g	2.650	-0.282130	0.05642	.	.	ENSG00000185958	ENST00000543111;ENST00000543096;ENST00000327337	T;T;T	0.40225	1.04;1.04;1.04	4.27	-0.179	0.13299	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.19583	0.037;0.037	B;B	0.20384	0.029;0.029	T	0.45948	-0.9226	8	0.33141	T	0.24	.	7.0351	0.24989	0.2306:0.1377:0.6317:0.0	rs6580741;rs52828511;rs60724480;rs6580741	2228;2228	F5GYN0;A6NE01	.;F186A_HUMAN	Q	2228;239;2228	ENSP00000441337:H2228Q;ENSP00000443703:H239Q;ENSP00000329995:H2228Q	ENSP00000329995:H2228Q	H	-	3	2	FAM186A	49013973	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.315000	0.19451	-0.245000	0.09625	-2.620000	0.00156	CAC	FAM186A	-	NULL	ENSG00000185958		0.448	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	86	0.00	0	G	XM_001718353		50727706	50727706	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	180	41.56	128	SNP	0.000	C
ERICH6B	220081	genome.wustl.edu	37	13	46115731	46115731	+	Missense_Mutation	SNP	C	C	A	rs1536207	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:46115731C>A	ENST00000298738.2	-	15	2121	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F	FAM194B_ENST00000504261.1_Intron	NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		653			V -> F (in dbSNP:rs1536207).							breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						CCCAGAAGGACCCGGATCTTC	0.507													C|||	1845	0.368411	0.1626	0.3631	5008	,	,		18039	0.5645		0.3608	False		,,,				2504	0.456					dbGAP											0													170.0	160.0	163.0					13																	46115731		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000298738.2:c.1957G>T	13.37:g.46115731C>A	ENSP00000298738:p.Val653Phe		Q96MB5	Missense_Mutation	SNP	NULL	p.V653F	ENST00000298738.2	37	c.1957	CCDS45045.1	13	827	0.37866300366300365	97	0.19715447154471544	133	0.3674033149171271	329	0.5751748251748252	268	0.35356200527704484	C	12.56	1.974839	0.34848	.	.	ENSG00000165837	ENST00000298738	T	0.11930	2.73	4.89	-4.76	0.03229	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	D	0.57899	0.981	P	0.54026	0.74	T	0.32322	-0.9911	8	0.87932	D	0	-4.4035	12.9301	0.58282	0.0:0.7089:0.0:0.2911	rs1536207;rs61562259;rs1536207	653	Q5W0A0	F194B_HUMAN	F	653	ENSP00000298738:V653F	ENSP00000298738:V653F	V	-	1	0	FAM194B	45013732	0.002000	0.14202	0.334000	0.25495	0.122000	0.20287	-0.714000	0.05002	-0.620000	0.05641	-0.904000	0.02843	GTC	FAM194B	-	NULL	ENSG00000165837		0.507	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	56	0.00	0	C			46115731	46115731	-1	no_errors	ENST00000298738	ensembl	human	known	69_37n	missense	37	66.67	74	SNP	0.026	A
FAM205A	259308	genome.wustl.edu	37	9	34726671	34726671	+	Missense_Mutation	SNP	G	G	A	rs1854574	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:34726671G>A	ENST00000378788.3	-	4	605	c.566C>T	c.(565-567)aCg>aTg	p.T189M		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	189						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						ATCTGCATACGTTGACTGGGC	0.493													G|||	1348	0.269169	0.1657	0.3818	5008	,	,		21277	0.3006		0.3439	False		,,,				2504	0.2198					dbGAP											0													107.0	91.0	96.0					9																	34726671		692	1590	2282	-	-	-	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.566C>T	9.37:g.34726671G>A	ENSP00000417711:p.Thr189Met		A8MVW7	Missense_Mutation	SNP	NULL	p.T189M	ENST00000378788.3	37	c.566	CCDS55305.1	9	683	0.31272893772893773	90	0.18292682926829268	135	0.3729281767955801	204	0.35664335664335667	254	0.33509234828496043	G	10.40	1.340468	0.24339	.	.	ENSG00000205108	ENST00000378788	T	0.26957	1.7	3.09	1.22	0.21188	.	1.925660	0.03166	U	0.170045	T	0.00012	0.0000	L	0.42245	1.32	0.80722	P	0.0	D	0.60575	0.988	P	0.47744	0.556	T	0.28106	-1.0054	9	0.62326	D	0.03	.	3.7287	0.08484	0.1325:0.0:0.6256:0.2419	rs1854574;rs1854574	189	Q6ZU69	F205A_HUMAN	M	189	ENSP00000417711:T189M	ENSP00000417711:T189M	T	-	2	0	RP11-195F19.10	34716671	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.368000	0.20399	0.334000	0.23590	-0.234000	0.12200	ACG	FAM205A	-	NULL	ENSG00000205108		0.493	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	67	0.00	0	G	NM_001141917		34726671	34726671	-1	no_errors	ENST00000378788	ensembl	human	novel	69_37n	missense	58	52.46	64	SNP	0.000	A
NUTM2B	729262	genome.wustl.edu	37	10	81471596	81471596	+	Silent	SNP	A	A	G	rs540357939		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:81471596A>G	ENST00000429828.1	+	7	2375	c.1992A>G	c.(1990-1992)caA>caG	p.Q664Q	NUTM2B_ENST00000372321.1_Intron|RP11-119F19.2_ENST00000601369.1_RNA|RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000448135.1_Intron	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	664																	CTGACCCCCAACAAGGGGTTG	0.612													N|||	1	0.000199681	0.0008	0.0	5008	,	,		23638	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.1992A>G	10.37:g.81471596A>G			A6NM73	Silent	SNP	NULL	p.Q664	ENST00000429828.1	37	c.1992		10																																																																																			FAM22B	-	NULL	ENSG00000188199		0.612	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	FAM22B	HGNC	protein_coding		51	0.00	0	A	NG_012780		81471596	81471596	+1	no_errors	ENST00000429828	ensembl	human	known	69_37n	silent	30	40.00	20	SNP	0.000	G
NUTM2D	728130	genome.wustl.edu	37	10	89124859	89124859	+	Missense_Mutation	SNP	G	G	A	rs201741914	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:89124859G>A	ENST00000381697.2	+	5	2015	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S	NUTM2D_ENST00000412718.1_Missense_Mutation_p.G473S			Q5VT03	NTM2D_HUMAN	NUT family member 2D	473																	ACGGGAAGAGGGCGAAGTGAA	0.612													g|||	3013	0.601637	0.5484	0.6455	5008	,	,		9951	0.8482		0.4881	False		,,,				2504	0.5051					dbGAP											0													6.0	12.0	10.0					10																	89124859		1408	2921	4329	-	-	-	SO:0001583	missense	0					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.1417G>A	10.37:g.89124859G>A	ENSP00000371116:p.Gly473Ser		A6NGV9	Missense_Mutation	SNP	NULL	p.G473S	ENST00000381697.2	37	c.1417		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.676|9.676	1.148030|1.148030	0.21288|0.21288	.|.	.|.	ENSG00000214562|ENSG00000214562	ENST00000451669|ENST00000330762;ENST00000381697;ENST00000381691;ENST00000412718	.|T;T	.|0.24723	.|2.64;1.84	0.628|0.628	0.628|0.628	0.17681|0.17681	.|Nuclear Testis protein, C-terminal (1);	1.216050|1.216050	0.05733|0.05733	N|N	0.599879|0.599879	T|T	0.32941|0.32941	0.0846|0.0846	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|P;P	.|0.49783	.|0.454;0.928	.|B;P	.|0.54346	.|0.381;0.749	T|T	0.40997|0.40997	-0.9533|-0.9533	3|7	.|0.23302	.|T	.|0.38	.|.	.|.	.|.	.|.	.|.	.|473;473	.|Q5VT03-2;Q5VT03	.|.;FA22D_HUMAN	E|S	11|544;473;22;473	.|ENSP00000371116:G473S;ENSP00000396080:G473S	.|ENSP00000328439:G544S	G|G	+|+	2|1	0|0	FAM22D|FAM22D	89114839|89114839	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.242000|0.242000	0.25591|0.25591	1.915000|1.915000	0.39976|0.39976	0.605000|0.605000	0.29947|0.29947	0.195000|0.195000	0.17529|0.17529	GGG|GGC	FAM22D	-	NULL	ENSG00000214562		0.612	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	FAM22D	HGNC	protein_coding	OTTHUMT00000470142.1	18	0.00	0	G	NR_075100		89124859	89124859	+1	no_errors	ENST00000381697	ensembl	human	known	69_37n	missense	1	75.00	3	SNP	0.001	A
NUTM2G	441457	genome.wustl.edu	37	9	99700710	99700710	+	Missense_Mutation	SNP	G	G	A	rs201544487	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:99700710G>A	ENST00000372322.3	+	7	1526	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	502																	CCTCGACATGGCACGGCCAGG	0.617																																						dbGAP											0													2.0	5.0	4.0					9																	99700710		494	1252	1746	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1505G>A	9.37:g.99700710G>A	ENSP00000361397:p.Gly502Asp		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.G502D	ENST00000372322.3	37	c.1505	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	10.13	1.265233	0.23136	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12774	2.65	0.736	-0.261	0.12963	.	1.306500	0.05023	N	0.473207	T	0.16938	0.0407	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.32481	-0.9905	8	0.39692	T	0.17	.	3.1098	0.06355	0.3441:0.0:0.6559:0.0	.	.	.	.	D	502;351;383	ENSP00000361397:G502D	ENSP00000361397:G502D	G	+	2	0	FAM22G	98740531	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.292000	0.33342	-0.086000	0.12550	-0.370000	0.07254	GGC	FAM22G	-	NULL	ENSG00000188152		0.617	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	10	0.00	0	G	NM_001170741		99700710	99700710	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	8	52.94	9	SNP	0.000	A
FAM86B2	653333	genome.wustl.edu	37	8	12287957	12287957	+	Missense_Mutation	SNP	C	C	T	rs148629503		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:12287957C>T	ENST00000262365.4	-	4	243	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	82										endometrium(1)|kidney(2)	3						TGGACAGCCTCGTGCTGGGGG	0.537																																						dbGAP											0													13.0	16.0	15.0					8																	12287957		689	1588	2277	-	-	-	SO:0001583	missense	0				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.244G>A	8.37:g.12287957C>T	ENSP00000262365:p.Glu82Lys			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.E82K	ENST00000262365.4	37	c.244	CCDS59092.1	8	.	.	.	.	.	.	.	.	.	.	-	13.25	2.180194	0.38511	.	.	ENSG00000145002	ENST00000262365	T	0.25414	1.8	1.16	1.16	0.20824	.	.	.	.	.	T	0.24661	0.0598	M	0.80982	2.52	0.80722	D	1	P	0.46395	0.877	B	0.36766	0.232	T	0.20940	-1.0260	9	0.72032	D	0.01	.	5.7399	0.18087	0.0:1.0:0.0:0.0	.	82	P0C5J1	F86B2_HUMAN	K	82	ENSP00000262365:E82K	ENSP00000262365:E82K	E	-	1	0	FAM86B2	12332328	0.994000	0.37717	0.994000	0.49952	0.123000	0.20343	2.765000	0.47621	0.945000	0.37605	0.162000	0.16502	GAG	FAM86B2	-	NULL	ENSG00000145002		0.537	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	HGNC	protein_coding		67	0.00	0	C	XM_928336		12287957	12287957	-1	no_errors	ENST00000262365	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	1.000	T
FAM86DP	692099	genome.wustl.edu	37	3	75471644	75471644	+	RNA	SNP	A	A	C	rs3763576	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:75471644A>C	ENST00000459803.1	-	0	1497					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGAAAAAAGCACCTGCTGCAC	0.552													.|||	223	0.0445288	0.0098	0.0504	5008	,	,		19101	0.0317		0.0288	False		,,,				2504	0.1166					dbGAP											0																																										-	-	-			0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471644A>C				RNA	SNP	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-	ENSG00000244026		0.552	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1	15	0.00	0	A	NR_024241		75471644	75471644	-1	no_errors	ENST00000459803	ensembl	human	known	69_37n	rna	1	83.33	5	SNP	0.000	C
FAM86EP	348926	genome.wustl.edu	37	4	3951256	3951257	+	RNA	DEL	CT	CT	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:3951256_3951257delCT	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CGTCCAAAGGCTCTGTGTGGAC	0.55																																						dbGAP											0																																										-	-	-			0					4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3951258_3951259delCT				RNA	DEL	-	NULL	ENST00000313946.8	37	NULL		4																																																																																			FAM86EP	-	-	ENSG00000251669		0.550	FAM86EP-002	KNOWN	basic	processed_transcript	FAM86EP	HGNC	pseudogene	OTTHUMT00000357822.1	21	0.00	0	CT			3951256	3951257	-1	no_errors	ENST00000504375	ensembl	human	known	69_37n	rna	30	24.39	10	DEL	1.000:1.000	-
FAM90A27P	646508	genome.wustl.edu	37	19	53787841	53787841	+	RNA	SNP	A	A	G	rs2865243	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:53787841A>G	ENST00000599085.1	+	0	496					NR_046365.1		A6NNH2	F90AR_HUMAN	family with sequence similarity 90, member A27, pseudogene								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										AGAGGCACCCAAGGCGACCGC	0.647													G|||	2344	0.468051	0.8419	0.3372	5008	,	,		12582	0.3522		0.2783	False		,,,				2504	0.3701					dbGAP											0																																										-	-	-			0					19q13.42	2014-03-18			ENSG00000189348	ENSG00000189348			43617	pseudogene	pseudogene							Standard	NR_046365		Approved		uc031rmv.1	A6NNH2	OTTHUMG00000182909		19.37:g.53787841A>G				Missense_Mutation	SNP	superfamily_Znf_CCHC	p.K342E	ENST00000599085.1	37	c.1024		19	851	0.38965201465201466	378	0.7682926829268293	105	0.2900552486187845	196	0.34265734265734266	172	0.22691292875989447	G	4.486	0.090090	0.08632	.	.	ENSG00000189348	ENST00000338885	.	.	.	1.93	-2.36	0.06663	.	1.672950	0.04198	N	0.329447	T	0.00012	0.0000	.	.	.	0.19300	P	0.999973	.	.	.	.	.	.	T	0.34329	-0.9833	5	0.21540	T	0.41	.	5.0242	0.14376	0.5336:0.2461:0.2203:0.0	rs2865243;rs57070094;rs2865243	.	.	.	E	342	.	ENSP00000341223:K342E	K	+	1	0	AC092070.1	58479653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.963000	0.03600	-3.362000	0.00041	AAG	FAM90A27P	-	NULL	ENSG00000189348		0.647	FAM90A27P-002	KNOWN	basic	processed_transcript	FAM90A27P	HGNC	pseudogene	OTTHUMT00000464290.1	8	0.00	0	A	NR_046365		53787841	53787841	+1	no_start_codon	ENST00000338885	ensembl	human	known	69_37n	missense	6	53.85	7	SNP	0.000	G
FANCI	55215	genome.wustl.edu	37	15	89838176	89838176	+	Silent	SNP	T	T	G	rs145762491	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:89838176T>G	ENST00000310775.7	+	24	2573	c.2487T>G	c.(2485-2487)ctT>ctG	p.L829L	FANCI_ENST00000300027.8_Intron	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	829					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)					AAGAAAGCCTTTCTGTTCTCA	0.453								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T|||	5	0.000998403	0.0	0.0029	5008	,	,		20665	0.0		0.002	False		,,,				2504	0.001					dbGAP											0													126.0	111.0	116.0					15																	89838176		689	1590	2279	-	-	-	SO:0001819	synonymous_variant	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.2487T>G	15.37:g.89838176T>G			A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	NULL	p.L829	ENST00000310775.7	37	c.2487	CCDS45346.1	15																																																																																			FANCI	-	NULL	ENSG00000140525		0.453	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	191	0.00	0	T	NM_018193		89838176	89838176	+1	no_errors	ENST00000310775	ensembl	human	known	69_37n	silent	42	61.47	67	SNP	0.994	G
FAT1	2195	genome.wustl.edu	37	4	187584680	187584680	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:187584680G>C	ENST00000441802.2	-	3	3562	c.3353C>G	c.(3352-3354)cCt>cGt	p.P1118R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1118	Cadherin 9. {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						CGATGAAAGAGGCACGACACC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													129.0	128.0	128.0					4																	187584680		1987	4178	6165	-	-	-	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.3353C>G	4.37:g.187584680G>C	ENSP00000406229:p.Pro1118Arg			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.P1118R	ENST00000441802.2	37	c.3353	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056559	0.76074	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.56275	0.47	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73154	-0.4072	10	0.35671	T	0.21	.	18.7554	0.91830	0.0:0.0:1.0:0.0	.	1118	Q14517	FAT1_HUMAN	R	1118	ENSP00000406229:P1118R	ENSP00000260147:P1118R	P	-	2	0	FAT1	187821674	1.000000	0.71417	0.993000	0.49108	0.478000	0.33099	9.657000	0.98554	2.668000	0.90789	0.591000	0.81541	CCT	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	35	0.00	0	G	NM_005245		187584680	187584680	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	56	54.47	67	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150946277	150946277	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:150946277G>C	ENST00000261800.5	-	1	2228	c.2216C>G	c.(2215-2217)gCc>gGc	p.A739G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	739	Cadherin 6. {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)			AGGGTCAGTGGCTGCTAGGCG	0.517																																						dbGAP											0													73.0	79.0	77.0					5																	150946277		2202	4300	6502	-	-	-	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.2216C>G	5.37:g.150946277G>C	ENSP00000261800:p.Ala739Gly		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.A739G	ENST00000261800.5	37	c.2216	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443870	0.83993	.	.	ENSG00000086570	ENST00000261800	T	0.61859	0.07	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	D	0.86686	0.5992	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90987	0.4832	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	739	Q9NYQ8	FAT2_HUMAN	G	739	ENSP00000261800:A739G	ENSP00000261800:A739G	A	-	2	0	FAT2	150926470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.731000	0.98807	2.894000	0.99253	0.655000	0.94253	GCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	63	0.00	0	G	NM_001447		150946277	150946277	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	C
FBXO25	26260	genome.wustl.edu	37	8	385683	385683	+	Silent	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:385683C>A	ENST00000276326.5	+	5	476	c.357C>A	c.(355-357)atC>atA	p.I119I	FBXO25_ENST00000382824.1_Silent_p.I52I|FBXO25_ENST00000352684.2_Silent_p.I52I|FBXO25_ENST00000350302.3_Silent_p.I119I	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	119					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTCAAGATATCCGAAGGTTCA	0.358																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.357C>A	8.37:g.385683C>A			Q6PJ83|Q7Z4V4|Q9UKB8	Silent	SNP	superfamily_F-box_dom_cyclin-like	p.I119	ENST00000276326.5	37	c.357	CCDS5953.1	8																																																																																			FBXO25	-	NULL	ENSG00000147364		0.358	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	14	0.00	0	C	NM_012173		385683	385683	+1	no_errors	ENST00000276326	ensembl	human	known	69_37n	silent	63	49.19	61	SNP	0.989	A
FBXW10	10517	genome.wustl.edu	37	17	18661706	18661706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:18661706C>T	ENST00000395665.4	+	7	1542	c.1321C>T	c.(1321-1323)Caa>Taa	p.Q441*	FBXW10_ENST00000301938.4_Nonsense_Mutation_p.Q441*|FBXW10_ENST00000395667.1_Nonsense_Mutation_p.Q441*|FBXW10_ENST00000308799.4_Nonsense_Mutation_p.Q470*			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	441										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGACATCATACAAGTGAAAGC	0.512																																						dbGAP											0													7.0	7.0	7.0					17																	18661706		2080	4092	6172	-	-	-	SO:0001587	stop_gained	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1321C>T	17.37:g.18661706C>T	ENSP00000379025:p.Gln441*		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q470*	ENST00000395665.4	37	c.1408	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969533	0.92855	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	3.21	3.21	0.36854	.	0.225053	0.21672	U	0.070856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	8.2928	0.31967	0.0:0.7541:0.2459:0.0	.	.	.	.	X	441;470;441;441	.	ENSP00000306937:Q441X	Q	+	1	0	FBXW10	18602431	0.000000	0.05858	0.004000	0.12327	0.571000	0.35966	-0.079000	0.11357	1.633000	0.50488	0.405000	0.27470	CAA	FBXW10	-	superfamily_WD40_repeat_dom	ENSG00000171931		0.512	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	36	0.00	0	C	NM_031456		18661706	18661706	+1	no_errors	ENST00000308799	ensembl	human	known	69_37n	nonsense	46	52.08	50	SNP	0.001	T
FCAMR	83953	genome.wustl.edu	37	1	207133065	207133065	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:207133065G>A	ENST00000324852.4	-	7	2006	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	FCAMR_ENST00000450945.2_Missense_Mutation_p.L244F|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Missense_Mutation_p.L244F	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	466					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TAGAACCAGAGCCATAAGCAT	0.517																																					Ovarian(199;1883 2142 16966 44409 45154)	dbGAP											0													152.0	146.0	148.0					1																	207133065		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1532C>T	1.37:g.207133065G>A	ENSP00000316491:p.Ala511Val		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L244F	ENST00000324852.4	37	c.730	CCDS53468.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.195656|3.195656	0.58126|0.58126	.|.	.|.	ENSG00000162897|ENSG00000162897	ENST00000324852|ENST00000400962;ENST00000450945	T|T;T	0.08807|0.07688	3.05|3.17;3.17	4.73|4.73	2.85|2.85	0.33270|0.33270	.|.	.|.	.|.	.|.	.|.	T|T	0.04634|0.04634	0.0126|0.0126	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.06786|0.23540	0.001;0.001|0.087	B;B|B	0.10450|0.25759	0.003;0.005|0.063	T|T	0.44513|0.44513	-0.9323|-0.9323	8|8	0.42905|0.13470	T|T	0.14|0.59	-1.3234|-1.3234	6.8496|6.8496	0.24008|0.24008	0.2056:0.0:0.7944:0.0|0.2056:0.0:0.7944:0.0	.|.	486;466|199	D2KTA8;Q8WWV6|Q8WWV6-2	.;FCAMR_HUMAN|.	V|F	511|244	ENSP00000316491:A511V|ENSP00000383746:L244F;ENSP00000392707:L244F	ENSP00000316491:A511V|ENSP00000383746:L244F	A|L	-|-	2|1	0|0	FCAMR|FCAMR	205199688|205199688	0.304000|0.304000	0.24472|0.24472	0.255000|0.255000	0.24374|0.24374	0.804000|0.804000	0.45430|0.45430	1.234000|1.234000	0.32660|0.32660	1.357000|1.357000	0.45904|0.45904	0.655000|0.655000	0.94253|0.94253	GCT|CTC	FCAMR	-	NULL	ENSG00000162897		0.517	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FCAMR	HGNC	protein_coding	OTTHUMT00000088969.2	83	0.00	0	G	NM_032029		207133065	207133065	-1	no_errors	ENST00000400962	ensembl	human	known	69_37n	missense	88	37.59	53	SNP	0.393	A
FCGBP	8857	genome.wustl.edu	37	19	40368619	40368619	+	Silent	SNP	G	G	A	rs150027077	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:40368619G>A	ENST00000221347.6	-	28	12736	c.12729C>T	c.(12727-12729)ggC>ggT	p.G4243G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4243	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			GCCAGCTGCCGCCCCAGATGG	0.647																																						dbGAP											0													12.0	15.0	14.0					19																	40368619		2182	4225	6407	-	-	-	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.12729C>T	19.37:g.40368619G>A			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.G4243	ENST00000221347.6	37	c.12729	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	205	0.00	0	G	NM_003890		40368619	40368619	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	54	33.33	27	SNP	0.496	A
FCGBP	8857	genome.wustl.edu	37	19	40376675	40376675	+	Missense_Mutation	SNP	G	G	A	rs77872255	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:40376675G>A	ENST00000221347.6	-	24	11754	c.11747C>T	c.(11746-11748)gCg>gTg	p.A3916V	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3916						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)			GCCTCCAGCCGCCTGGCAAGC	0.592																																						dbGAP											0													76.0	99.0	91.0					19																	40376675		2133	4208	6341	-	-	-	SO:0001583	missense	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.11747C>T	19.37:g.40376675G>A	ENSP00000221347:p.Ala3916Val		O95784	Missense_Mutation	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.A3916V	ENST00000221347.6	37	c.11747	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	16.77	3.215030	0.58452	.	.	ENSG00000090920	ENST00000221347	T	0.77620	-1.11	3.67	-0.612	0.11597	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.73713	0.3622	M	0.81497	2.545	0.09310	N	1	P	0.47604	0.898	B	0.40782	0.34	T	0.63084	-0.6716	9	0.33141	T	0.24	.	7.2433	0.26107	0.0:0.2561:0.459:0.2849	.	3916	Q9Y6R7	FCGBP_HUMAN	V	3916	ENSP00000221347:A3916V	ENSP00000221347:A3916V	A	-	2	0	FCGBP	45068515	0.000000	0.05858	0.897000	0.35233	0.896000	0.52359	-0.630000	0.05502	0.118000	0.18165	0.313000	0.20887	GCG	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	77	0.00	0	G	NM_003890		40376675	40376675	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	105	30.26	46	SNP	0.010	A
FCGBP	8857	genome.wustl.edu	37	19	40392631	40392631	+	Missense_Mutation	SNP	G	G	A	rs80068592	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:40392631G>A	ENST00000221347.6	-	16	7880	c.7873C>T	c.(7873-7875)Ccc>Tcc	p.P2625S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2625	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			GGAGAGTCGGGCACCACCTCC	0.642													G|||	1353	0.270168	0.1808	0.4121	5008	,	,		18489	0.2093		0.3569	False		,,,				2504	0.2638					dbGAP											0													14.0	17.0	16.0					19																	40392631		2165	4278	6443	-	-	-	SO:0001583	missense	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.7873C>T	19.37:g.40392631G>A	ENSP00000221347:p.Pro2625Ser		O95784	Missense_Mutation	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.P2625S	ENST00000221347.6	37	c.7873	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	7.277	0.608327	0.14002	.	.	ENSG00000090920	ENST00000221347	T	0.18657	2.2	2.66	2.66	0.31614	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.27731	0.0682	M	0.71920	2.185	0.37706	P	0.07559199999999999	P	0.41131	0.739	P	0.48304	0.573	T	0.29761	-1.0001	8	0.02654	T	1	.	12.5273	0.56093	0.0:0.0:1.0:0.0	.	2625	Q9Y6R7	FCGBP_HUMAN	S	2625	ENSP00000221347:P2625S	ENSP00000221347:P2625S	P	-	1	0	FCGBP	45084471	0.034000	0.19679	0.110000	0.21437	0.008000	0.06430	0.899000	0.28417	1.495000	0.48549	0.298000	0.19748	CCC	FCGBP	-	NULL	ENSG00000090920		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	55	0.00	0	G	NM_003890		40392631	40392631	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	0	100.00	6	SNP	0.921	A
FCGBP	8857	genome.wustl.edu	37	19	40392719	40392719	+	Silent	SNP	G	G	A	rs200664901	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:40392719G>A	ENST00000221347.6	-	16	7792	c.7785C>T	c.(7783-7785)aaC>aaT	p.N2595N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2595	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			TGGGGTCGCCGTTGTAGTTCC	0.597													G|||	1198	0.239217	0.0772	0.4006	5008	,	,		22950	0.2073		0.3529	False		,,,				2504	0.2597					dbGAP											0													7.0	8.0	8.0					19																	40392719		2060	4141	6201	-	-	-	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.7785C>T	19.37:g.40392719G>A			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.N2595	ENST00000221347.6	37	c.7785	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	53	0.00	0	G	NM_003890		40392719	40392719	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	0	100.00	11	SNP	0.999	A
FCGBP	8857	genome.wustl.edu	37	19	40406019	40406019	+	Silent	SNP	G	G	A	rs2355719	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:40406019G>A	ENST00000221347.6	-	10	4834	c.4827C>T	c.(4825-4827)tgC>tgT	p.C1609C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1609	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATGGCACGTGCACTGCTGCC	0.632													A|||	1308	0.261182	0.1566	0.402	5008	,	,		20345	0.2163		0.3419	False		,,,				2504	0.2658					dbGAP											0													77.0	55.0	62.0					19																	40406019		2203	4298	6501	-	-	-	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.4827C>T	19.37:g.40406019G>A			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.C1609	ENST00000221347.6	37	c.4827	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out,smart_VWF_C	ENSG00000090920		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	71	0.00	0	G	NM_003890		40406019	40406019	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	2	95.16	59	SNP	0.017	A
FCGBP	8857	genome.wustl.edu	37	19	40408268	40408268	+	Missense_Mutation	SNP	G	G	T	rs34938990	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:40408268G>T	ENST00000221347.6	-	8	4578	c.4571C>A	c.(4570-4572)aCt>aAt	p.T1524N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1524			T -> N (in dbSNP:rs34938990).			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)			GAAAGTTTCAGTCCTCCAGGG	0.637																																						dbGAP											0													86.0	66.0	73.0					19																	40408268		2202	4294	6496	-	-	-	SO:0001583	missense	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.4571C>A	19.37:g.40408268G>T	ENSP00000221347:p.Thr1524Asn		O95784	Missense_Mutation	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.T1524N	ENST00000221347.6	37	c.4571	CCDS12546.1	19	474	0.21703296703296704	33	0.06707317073170732	125	0.3453038674033149	102	0.17832167832167833	214	0.28232189973614774	g	4.496	0.091965	0.08632	.	.	ENSG00000090920	ENST00000221347	T	0.76578	-1.03	4.61	-3.11	0.05299	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.00012	0.0000	N	0.21097	0.63	0.58432	P	8.000000000008E-6	B	0.20550	0.046	B	0.22601	0.04	T	0.10847	-1.0612	8	0.07990	T	0.79	.	8.7966	0.34883	0.0:0.173:0.3054:0.5216	rs34938990	1524	Q9Y6R7	FCGBP_HUMAN	N	1524	ENSP00000221347:T1524N	ENSP00000221347:T1524N	T	-	2	0	FCGBP	45100108	0.000000	0.05858	0.174000	0.22961	0.672000	0.39443	-0.524000	0.06222	0.002000	0.14630	-0.126000	0.14955	ACT	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	109	0.00	0	G	NM_003890		40408268	40408268	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	0	100.00	7	SNP	0.016	T
FCGR3A	2214	genome.wustl.edu	37	1	161518214	161518214	+	Missense_Mutation	SNP	T	T	C	rs148181339	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:161518214T>C	ENST00000436743.1	-	4	470	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.I106V|FCGR3A_ENST00000443193.1_Missense_Mutation_p.I141V|FCGR3A_ENST00000367969.3_Missense_Mutation_p.I142V|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	106				I -> V (in Ref. 3; BAD96988/BAD97015). {ECO:0000305}.	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)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	AACTCACCGATATGGACTTCT	0.483																																						dbGAP											0													83.0	81.0	82.0					1																	161518214		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.316A>G	1.37:g.161518214T>C	ENSP00000416607:p.Ile106Val		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.I142V	ENST00000436743.1	37	c.424	CCDS44266.1	1	522|522	0.23901098901098902|0.23901098901098902	75|75	0.1524390243902439|0.1524390243902439	115|115	0.31767955801104975|0.31767955801104975	185|185	0.32342657342657344|0.32342657342657344	147|147	0.19393139841688653|0.19393139841688653	T|T	6.273|6.273	0.418469|0.418469	0.11870|0.11870	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.03889	.|4.95;4.94;4.98;4.98;4.98;3.77	4.43|4.43	-8.86|-8.86	0.00795|0.00795	.|.	4.323350|4.323350	0.00674|0.00674	N|N	0.000659|0.000659	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.04508|0.04508	-0.205|-0.205	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	0.35699|0.35699	-0.9778|-0.9778	6|10	.|0.06236	.|T	.|0.91	.|.	8.7015|8.7015	0.34329|0.34329	0.0:0.1887:0.1973:0.614|0.0:0.1887:0.1973:0.614	.|.	.|106;141;106	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	M|V	122|142;141;106;106;106;105	.|ENSP00000356946:I142V;ENSP00000392047:I141V;ENSP00000416607:I106V;ENSP00000356944:I106V;ENSP00000444971:I106V;ENSP00000396567:I105V	.|ENSP00000356944:I106V	I|I	-|-	3|1	3|0	FCGR3A|FCGR3A	159784838|159784838	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-5.685000|-5.685000	0.00105|0.00105	-3.274000|-3.274000	0.00199|0.00199	-0.326000|-0.326000	0.08463|0.08463	ATA|ATC	FCGR3A	-	NULL	ENSG00000203747		0.483	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	54	0.00	0	T	NM_000569		161518214	161518214	-1	no_errors	ENST00000367969	ensembl	human	known	69_37n	missense	164	18.72	38	SNP	0.000	C
FFAR3	2865	genome.wustl.edu	37	19	35850022	35850022	+	Missense_Mutation	SNP	A	A	G	rs149009291	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:35850022A>G	ENST00000327809.4	+	2	431	c.230A>G	c.(229-231)aAt>aGt	p.N77S	FFAR3_ENST00000594310.1_Missense_Mutation_p.N77S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	77					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GAGGCAGCCAATGGCATGCAC	0.632																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	dbGAP											0													33.0	29.0	30.0					19																	35850022		2197	4263	6460	-	-	-	SO:0001583	missense	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.230A>G	19.37:g.35850022A>G	ENSP00000328230:p.Asn77Ser		B2RWM8|Q14CM7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.N77S	ENST00000327809.4	37	c.230	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.497958	0.00157	.	.	ENSG00000185897	ENST00000327809	T	0.71579	-0.58	5.52	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.719489	0.14208	N	0.334232	T	0.34424	0.0897	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.46789	-0.9166	9	0.06625	T	0.88	-1.1157	9.116	0.36758	0.5692:0.103:0.3278:0.0	.	77	O14843	FFAR3_HUMAN	S	77	ENSP00000328230:N77S	ENSP00000328230:N77S	N	+	2	0	FFAR3	40541862	0.000000	0.05858	0.007000	0.13788	0.023000	0.10783	-2.334000	0.01107	-0.933000	0.03737	-1.294000	0.01345	AAT	FFAR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR40-rel_recept	ENSG00000185897		0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	31	0.00	0	A	NM_005304		35850022	35850022	+1	no_errors	ENST00000327809	ensembl	human	known	69_37n	missense	42	34.38	22	SNP	0.000	G
FFAR3	2865	genome.wustl.edu	37	19	35850152	35850152	+	Silent	SNP	A	A	C	rs145076130	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:35850152A>C	ENST00000327809.4	+	2	561	c.360A>C	c.(358-360)ccA>ccC	p.P120P	FFAR3_ENST00000594310.1_Silent_p.P120P	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	120					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGCCCACCCACTGTGGTACA	0.597																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	dbGAP											0													12.0	12.0	12.0					19																	35850152		2156	4209	6365	-	-	-	SO:0001819	synonymous_variant	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.360A>C	19.37:g.35850152A>C			B2RWM8|Q14CM7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.P120	ENST00000327809.4	37	c.360	CCDS12459.1	19																																																																																			FFAR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR40-rel_recept	ENSG00000185897		0.597	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	21	0.00	0	A	NM_005304		35850152	35850152	+1	no_errors	ENST00000327809	ensembl	human	known	69_37n	silent	14	46.15	12	SNP	0.000	C
FFAR3	2865	genome.wustl.edu	37	19	35850292	35850292	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:35850292G>C	ENST00000327809.4	+	2	701	c.500G>C	c.(499-501)gGg>gCg	p.G167A	FFAR3_ENST00000594310.1_Missense_Mutation_p.G167A	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	167					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCACCAATGGGACCTGCTAC	0.607																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	dbGAP											0													71.0	55.0	60.0					19																	35850292		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.500G>C	19.37:g.35850292G>C	ENSP00000328230:p.Gly167Ala		B2RWM8|Q14CM7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.G167A	ENST00000327809.4	37	c.500	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	G	1.761	-0.486846	0.04352	.	.	ENSG00000185897	ENST00000327809	T	0.37915	1.17	5.0	-1.06	0.10002	GPCR, rhodopsin-like superfamily (1);	1.490540	0.03750	U	0.256380	T	0.22513	0.0543	L	0.46157	1.445	0.09310	N	1	P	0.36086	0.536	B	0.33960	0.173	T	0.08827	-1.0703	10	0.02654	T	1	-6.0598	0.9684	0.01410	0.359:0.1508:0.3357:0.1545	.	167	O14843	FFAR3_HUMAN	A	167	ENSP00000328230:G167A	ENSP00000328230:G167A	G	+	2	0	FFAR3	40542132	0.000000	0.05858	0.001000	0.08648	0.238000	0.25445	-0.338000	0.07842	-0.095000	0.12351	0.305000	0.20034	GGG	FFAR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185897		0.607	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	33	0.00	0	G	NM_005304		35850292	35850292	+1	no_errors	ENST00000327809	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	0.000	C
FGD5	152273	genome.wustl.edu	37	3	14861300	14861300	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:14861300A>G	ENST00000285046.5	+	1	832	c.722A>G	c.(721-723)gAc>gGc	p.D241G	FGD5_ENST00000543601.1_5'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	241	Glu-rich.				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						CCCACGGAGGACATGGGACAG	0.647																																						dbGAP											0													15.0	20.0	18.0					3																	14861300		2083	4208	6291	-	-	-	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.722A>G	3.37:g.14861300A>G	ENSP00000285046:p.Asp241Gly		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.D241G	ENST00000285046.5	37	c.722	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	A	7.875	0.728916	0.15507	.	.	ENSG00000154783	ENST00000285046	T	0.76578	-1.03	3.35	2.16	0.27623	.	0.420095	0.21020	N	0.081525	T	0.58652	0.2137	N	0.19112	0.55	0.32986	D	0.524364	B	0.09022	0.002	B	0.08055	0.003	T	0.53865	-0.8378	10	0.21014	T	0.42	-3.1411	7.6975	0.28602	0.8932:0.0:0.1068:0.0	.	241	Q6ZNL6	FGD5_HUMAN	G	241	ENSP00000285046:D241G	ENSP00000285046:D241G	D	+	2	0	FGD5	14836304	0.000000	0.05858	0.025000	0.17156	0.019000	0.09904	-0.013000	0.12678	0.312000	0.23038	-0.353000	0.07706	GAC	FGD5	-	NULL	ENSG00000154783		0.647	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	34	0.00	0	A	NM_152536		14861300	14861300	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.112	G
FKBP1C	642489	genome.wustl.edu	37	6	63921493	63921493	+	Missense_Mutation	SNP	G	G	T	rs146459499	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:63921493G>T	ENST00000370659.1	+	1	143	c.32G>T	c.(31-33)gGa>gTa	p.G11V	FKBP1C_ENST00000356170.3_Missense_Mutation_p.G11V					FK506 binding protein 1C											lung(3)	3						ATCTCCCCAGGAGACTGGCGC	0.662													G|||	6	0.00119808	0.0	0.0	5008	,	,		11830	0.0		0.006	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0					6q12	2013-01-16			ENSG00000198225	ENSG00000198225			21376	other	unknown							Standard	NG_008622		Approved	bA184C23.2			OTTHUMG00000014940	ENST00000370659.1:c.32G>T	6.37:g.63921493G>T	ENSP00000359693:p.Gly11Val			Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.G11V	ENST00000370659.1	37	c.32		6	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	12.38	1.921640	0.33908	.	.	ENSG00000198225	ENST00000370659;ENST00000356170	T;T	0.58210	0.35;0.53	3.29	2.4	0.29515	.	0.882556	0.09393	N	0.808347	T	0.47377	0.1442	.	.	.	0.47737	D	0.999501	.	.	.	.	.	.	T	0.51092	-0.8749	7	0.72032	D	0.01	.	8.883	0.35387	0.1228:0.0:0.8772:0.0	.	.	.	.	V	11	ENSP00000359693:G11V;ENSP00000348493:G11V	ENSP00000348493:G11V	G	+	2	0	FKBP1C	63979452	0.986000	0.35501	0.013000	0.15412	0.256000	0.26092	1.227000	0.32576	0.667000	0.31107	0.460000	0.39030	GGA	FKBP1C	-	NULL	ENSG00000198225		0.662	FKBP1C-001	KNOWN	basic|appris_principal	protein_coding	FKBP1C	HGNC	protein_coding	OTTHUMT00000041070.1	54	0.00	0	G	NG_008622		63921493	63921493	+1	no_errors	ENST00000370659	ensembl	human	known	69_37n	missense	23	48.89	22	SNP	0.959	T
TAPT1-AS1	202020	genome.wustl.edu	37	4	16258050	16258050	+	RNA	SNP	C	C	A	rs203448	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:16258050C>A	ENST00000570786.1	+	0	405				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TAAACCTGCCCGTGACCTTGT	0.542													C|||	575	0.114816	0.0711	0.1052	5008	,	,		17149	0.0982		0.1213	False		,,,				2504	0.1912					dbGAP											0																																										-	-	-			0					4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258050C>A				RNA	SNP	-	NULL	ENST00000570786.1	37	NULL		4																																																																																			RP11-783N5.1	-	-	ENSG00000263327		0.542	TAPT1-AS1-002	KNOWN	basic	antisense	FLJ39653	Clone_based_vega_gene	antisense	OTTHUMT00000439459.1	20	0.00	0	C	NR_027696		16258050	16258050	+1	no_errors	ENST00000570786	ensembl	human	known	69_37n	rna	17	51.43	18	SNP	0.163	A
FOXA2	3170	genome.wustl.edu	37	20	22562872	22562872	+	Silent	SNP	C	C	T	rs558508968		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:22562872C>T	ENST00000377115.4	-	3	1171	c.990G>A	c.(988-990)ctG>ctA	p.L330L	FOXA2_ENST00000419308.2_Silent_p.L336L	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	330					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGGGGGGCTCAGCGCCGCAG	0.786																																						dbGAP											0													4.0	4.0	4.0					20																	22562872		1748	3565	5313	-	-	-	SO:0001819	synonymous_variant	0			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.990G>A	20.37:g.22562872C>T			Q8WUW4|Q96DF7	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.L336	ENST00000377115.4	37	c.1008	CCDS13147.1	20																																																																																			FOXA2	-	NULL	ENSG00000125798		0.786	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	41	0.00	0	C			22562872	22562872	-1	no_errors	ENST00000319993	ensembl	human	known	69_37n	silent	4	63.64	7	SNP	1.000	T
FOXD4	2298	genome.wustl.edu	37	9	117696	117696	+	Missense_Mutation	SNP	G	G	A	rs9406415	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:117696G>A	ENST00000382500.2	-	1	721	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	142					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AACTTGCGGCGGTAGTAGGGG	0.642																																						dbGAP											0													41.0	68.0	59.0					9																	117696		2097	4163	6260	-	-	-	SO:0001583	missense	0			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.424C>T	9.37:g.117696G>A	ENSP00000371940:p.Arg142Cys		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R142C	ENST00000382500.2	37	c.424	CCDS34975.1	9	477	0.2184065934065934	82	0.16666666666666666	67	0.1850828729281768	135	0.23601398601398602	193	0.2546174142480211	.	15.82	2.945410	0.53079	.	.	ENSG00000170122	ENST00000382500	D	0.96491	-4.03	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.35870	U	0.002927	T	0.00754	0.0025	M	0.94021	3.485	0.09310	P	0.99999602235	D	0.89917	1.0	D	0.81914	0.995	T	0.00289	-1.1844	9	0.56958	D	0.05	.	4.7852	0.13222	0.0:0.2374:0.5208:0.2418	rs9406415	142	Q12950	FOXD4_HUMAN	C	142	ENSP00000371940:R142C	ENSP00000371940:R142C	R	-	1	0	FOXD4	107696	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.314000	0.33597	1.253000	0.44018	0.291000	0.19559	CGC	FOXD4	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000170122		0.642	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	66	0.00	0	G	NM_207305		117696	117696	-1	no_errors	ENST00000382500	ensembl	human	known	69_37n	missense	2	66.67	6	SNP	1.000	A
FREM3	166752	genome.wustl.edu	37	4	144617658	144617658	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:144617658C>T	ENST00000329798.5	-	1	4170	c.4171G>A	c.(4171-4173)Ggc>Agc	p.G1391S		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1391					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						CCTTCTTGGCCTGTGTGGATA	0.433																																						dbGAP											0													178.0	137.0	149.0					4																	144617658		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.4171G>A	4.37:g.144617658C>T	ENSP00000332886:p.Gly1391Ser			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G1391S	ENST00000329798.5	37	c.4171	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585706	0.66105	.	.	ENSG00000183090	ENST00000329798	D	0.86366	-2.11	4.33	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.91061	0.7187	M	0.81682	2.555	0.58432	D	0.999998	.	.	.	.	.	.	D	0.90720	0.4634	8	0.54805	T	0.06	-12.3088	11.1671	0.48550	0.0:0.9076:0.0:0.0924	.	.	.	.	S	1391	ENSP00000332886:G1391S	ENSP00000332886:G1391S	G	-	1	0	FREM3	144837108	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	5.297000	0.65704	1.029000	0.39812	0.655000	0.94253	GGC	FREM3	-	NULL	ENSG00000183090		0.433	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	78	0.00	0	C	XM_094074		144617658	144617658	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	69	51.06	72	SNP	1.000	T
FRMPD2	143162	genome.wustl.edu	37	10	49383976	49383976	+	Missense_Mutation	SNP	T	T	C	rs200957845		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:49383976T>C	ENST00000374201.3	-	23	3204	c.2902A>G	c.(2902-2904)Att>Gtt	p.I968V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.I943V|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.I936V|FRMPD2_ENST00000474573.1_5'UTR	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	968	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGTTAATGCCACCCTGA	0.532																																						dbGAP											0													3.0	1.0	1.0					10																	49383976		81	163	244	-	-	-	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2902A>G	10.37:g.49383976T>C	ENSP00000363317:p.Ile968Val		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I968V	ENST00000374201.3	37	c.2902	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.452426	0.01080	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.26810	1.71;1.71;1.71	4.81	-0.335	0.12662	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.10723	0.0262	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.18863	0.006;0.031;0.016	B;B;B	0.23419	0.016;0.046;0.024	T	0.39165	-0.9627	9	0.21540	T	0.41	.	9.0019	0.36088	0.0:0.3679:0.0:0.6321	.	943;968;936	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	968;943;936	ENSP00000363317:I968V;ENSP00000307079:I943V;ENSP00000384339:I936V	ENSP00000307079:I943V	I	-	1	0	FRMPD2	49053982	0.623000	0.27094	0.520000	0.27837	0.722000	0.41435	0.524000	0.22940	-0.339000	0.08401	0.528000	0.53228	ATT	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000170324		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	76	0.00	0	T	NM_152428		49383976	49383976	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	missense	128	18.99	30	SNP	0.060	C
GABRA4	2557	genome.wustl.edu	37	4	46981081	46981081	+	Silent	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:46981081G>T	ENST00000264318.3	-	3	1222	c.240C>A	c.(238-240)gtC>gtA	p.V80V		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	80					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)	CAAAGCTGGTGACATATATGT	0.353																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0													91.0	83.0	86.0					4																	46981081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.240C>A	4.37:g.46981081G>T			Q8IYR7	Silent	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.V80	ENST00000264318.3	37	c.240	CCDS3473.1	4																																																																																			GABRA4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.353	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	49	0.00	0	G			46981081	46981081	-1	no_errors	ENST00000264318	ensembl	human	known	69_37n	silent	123	46.52	107	SNP	1.000	T
GAS2L2	246176	genome.wustl.edu	37	17	34072870	34072870	+	Missense_Mutation	SNP	G	G	A	rs199809536		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:34072870G>A	ENST00000254466.6	-	6	1673	c.1646C>T	c.(1645-1647)aCg>aTg	p.T549M	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T533M	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	549					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCCCCATGCGTGGACCCAGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19047	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													49.0	48.0	49.0					17																	34072870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1646C>T	17.37:g.34072870G>A	ENSP00000254466:p.Thr549Met		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.T549M	ENST00000254466.6	37	c.1646	CCDS11298.1	17	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.73	1.726302	0.30593	.	.	ENSG00000132139	ENST00000254466	T	0.18338	2.22	5.19	0.664	0.17890	.	1.270360	0.05332	N	0.528575	T	0.13415	0.0325	N	0.24115	0.695	0.09310	N	1	D	0.58620	0.983	B	0.41299	0.353	T	0.40869	-0.9540	10	0.52906	T	0.07	-0.0191	10.5564	0.45121	0.0:0.3343:0.5824:0.0833	.	549	Q8NHY3	GA2L2_HUMAN	M	549	ENSP00000254466:T549M	ENSP00000254466:T549M	T	-	2	0	GAS2L2	31096983	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	-0.222000	0.09190	0.295000	0.22570	-0.165000	0.13383	ACG	GAS2L2	-	NULL	ENSG00000132139		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	34	0.00	0	G	NM_139285		34072870	34072870	-1	no_errors	ENST00000254466	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.000	A
GET4	51608	genome.wustl.edu	37	7	923855	923855	+	Intron	SNP	G	G	A	rs76780037	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:923855G>A	ENST00000265857.3	+	2	249				RP11-449P15.2_ENST00000609998.1_RNA|GET4_ENST00000407192.1_5'UTR	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)						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						GGTTCTGCCCGTGGCCCCACT	0.592													A|||	194	0.038738	0.0136	0.0043	5008	,	,		17864	0.129		0.0099	False		,,,				2504	0.0337					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.156-1838G>A	7.37:g.923855G>A			A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Silent	SNP	pfam_UPF0363	p.P5	ENST00000265857.3	37	c.15	CCDS5317.1	7																																																																																			GET4	-	NULL	ENSG00000239857		0.592	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	HGNC	protein_coding	OTTHUMT00000231930.1	13	0.00	0	G	NM_015949		923855	923855	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000441491	ensembl	human	putative	69_37n	silent	1	88.89	8	SNP	0.000	A
GFM2	84340	genome.wustl.edu	37	5	74032756	74032756	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:74032756G>A	ENST00000296805.3	-	15	1832	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	GFM2_ENST00000509430.1_Missense_Mutation_p.R459C|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000427854.2_Missense_Mutation_p.R459C|GFM2_ENST00000345239.2_Missense_Mutation_p.R412C	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCGGCTCTACGAGCTGCAGCT	0.473																																						dbGAP											0													116.0	106.0	109.0					5																	74032756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1375C>T	5.37:g.74032756G>A	ENSP00000296805:p.Arg459Cys			Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.R459C	ENST00000296805.3	37	c.1375	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897961	0.91962	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854	T;T;T;T	0.74737	-0.03;0.1;-0.03;-0.87	5.25	5.25	0.73442	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.052333	0.85682	D	0.000000	T	0.79528	0.4461	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.999;0.99	P;P;P;P	0.61201	0.761;0.847;0.885;0.582	T	0.82112	-0.0618	10	0.87932	D	0	-3.5746	18.8343	0.92155	0.0:0.0:1.0:0.0	.	459;459;412;459	Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;RRF2M_HUMAN	C	459;412;459;459;459	ENSP00000296805:R459C;ENSP00000296804:R412C;ENSP00000427004:R459C;ENSP00000405808:R459C	ENSP00000296805:R459C	R	-	1	0	GFM2	74068512	1.000000	0.71417	0.994000	0.49952	0.757000	0.42996	7.916000	0.87491	2.442000	0.82660	0.462000	0.41574	CGT	GFM2	-	superfamily_Transl_elong_init/rib_B-barrel	ENSG00000164347		0.473	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2	40	0.00	0	G	NM_032380		74032756	74032756	-1	no_errors	ENST00000296805	ensembl	human	known	69_37n	missense	96	56.76	126	SNP	1.000	A
GLI3	2737	genome.wustl.edu	37	7	42064932	42064932	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:42064932C>T	ENST00000395925.3	-	9	1371	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	429					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTTGTGCATCGGGTCACCAG	0.582									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													dbGAP											0													164.0	136.0	145.0					7																	42064932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1287G>A	7.37:g.42064932C>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P429	ENST00000395925.3	37	c.1287	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.582	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	35	0.00	0	C	NM_000168		42064932	42064932	-1	no_errors	ENST00000395925	ensembl	human	known	69_37n	silent	51	54.05	60	SNP	0.008	T
GLP1R	2740	genome.wustl.edu	37	6	39024252	39024252	+	Missense_Mutation	SNP	A	A	T	rs201338954		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:39024252A>T	ENST00000373256.4	+	2	201	c.158A>T	c.(157-159)gAt>gTt	p.D53V		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	53					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CTGACTGAGGATCCACCTCCT	0.587																																						dbGAP											0													62.0	52.0	55.0					6																	39024252		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.158A>T	6.37:g.39024252A>T	ENSP00000362353:p.Asp53Val		Q2M229|Q99669	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_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.D53V	ENST00000373256.4	37	c.158	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	A	1.143	-0.648899	0.03506	.	.	ENSG00000112164	ENST00000373256	T	0.50813	0.73	5.53	2.74	0.32292	GPCR, family 2, extracellular hormone receptor domain (1);	1.156600	0.06252	N	0.692191	T	0.08758	0.0217	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.30078	T	0.28	.	5.7024	0.17889	0.157:0.6754:0.0:0.1676	.	53	P43220	GLP1R_HUMAN	V	53	ENSP00000362353:D53V	ENSP00000362353:D53V	D	+	2	0	GLP1R	39132230	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.220000	0.17660	0.696000	0.31696	-0.833000	0.03075	GAT	GLP1R	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	ENSG00000112164		0.587	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	24	0.00	0	A			39024252	39024252	+1	no_errors	ENST00000373256	ensembl	human	known	69_37n	missense	8	60.00	12	SNP	0.011	T
GLP1R	2740	genome.wustl.edu	37	6	39046130	39046130	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:39046130A>G	ENST00000373256.4	+	8	899	c.856A>G	c.(856-858)Att>Gtt	p.I286V		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	286					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CCCCTGGGGCATTGTCAAGTA	0.597																																						dbGAP											0													149.0	114.0	126.0					6																	39046130		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.856A>G	6.37:g.39046130A>G	ENSP00000362353:p.Ile286Val		Q2M229|Q99669	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_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.I286V	ENST00000373256.4	37	c.856	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	A	9.662	1.144311	0.21205	.	.	ENSG00000112164	ENST00000373256	T	0.36878	1.23	5.39	2.97	0.34412	GPCR, family 2-like (1);	0.477126	0.20622	N	0.088764	T	0.10423	0.0255	L	0.33293	1	0.36630	D	0.876219	B	0.06786	0.001	B	0.15052	0.012	T	0.10474	-1.0628	10	0.18710	T	0.47	.	9.0774	0.36531	0.8485:0.0:0.1515:0.0	.	286	P43220	GLP1R_HUMAN	V	286	ENSP00000362353:I286V	ENSP00000362353:I286V	I	+	1	0	GLP1R	39154108	0.484000	0.25964	0.995000	0.50966	0.989000	0.77384	1.475000	0.35409	0.348000	0.23949	-0.441000	0.05720	ATT	GLP1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000112164		0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	41	0.00	0	A			39046130	39046130	+1	no_errors	ENST00000373256	ensembl	human	known	69_37n	missense	37	54.88	45	SNP	1.000	G
GOLGA6L6	727832	genome.wustl.edu	37	15	20740489	20740489	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:20740489C>T	ENST00000427390.2	-	8	1351	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	421	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ttctcctgctcgcgtatcttc	0.552																																						dbGAP											0													1.0	1.0	1.0					15																	20740489		190	200	390	-	-	-	SO:0001583	missense	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1261G>A	15.37:g.20740489C>T	ENSP00000398615:p.Glu421Lys		D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E421K	ENST00000427390.2	37	c.1261	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	3.770	-0.047804	0.07407	.	.	ENSG00000215405	ENST00000427390	T	0.08634	3.07	.	.	.	.	.	.	.	.	T	0.04227	0.0117	L	0.42245	1.32	0.09310	N	0.999999	P	0.50943	0.94	B	0.32149	0.141	T	0.30679	-0.9970	7	0.06891	T	0.86	.	.	.	.	.	421	A8MZA4	GG6L6_HUMAN	K	421	ENSP00000398615:E421K	ENSP00000398615:E421K	E	-	1	0	GOLGA6L6	19000503	0.000000	0.05858	0.187000	0.23214	0.188000	0.23474	-1.879000	0.01629	0.149000	0.19098	0.152000	0.16155	GAG	GOLGA6L6	-	NULL	ENSG00000215405		0.552	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	16	0.00	0	C	NM_001145004		20740489	20740489	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.961	T
GOLGA6L1	283767	genome.wustl.edu	37	15	22743086	22743086	+	Missense_Mutation	SNP	C	C	T	rs201721928		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:22743086C>T	ENST00000560659.2	+	8	1321	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	GOLGA6L1_ENST00000316397.3_Missense_Mutation_p.R491W			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	485										NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						ggagaagatacggaagcagga	0.562																																						dbGAP											0													4.0	3.0	4.0					15																	22743086		1053	1506	2559	-	-	-	SO:0001583	missense	0			AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.1321C>T	15.37:g.22743086C>T	ENSP00000452626:p.Arg441Trp			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.R491W	ENST00000560659.2	37	c.1471		15	.	.	.	.	.	.	.	.	.	.	.	2.598	-0.293699	0.05568	.	.	ENSG00000197414	ENST00000316397;ENST00000355145	T	0.11385	2.78	.	.	.	.	.	.	.	.	T	0.13500	0.0327	L	0.52573	1.65	0.09310	N	1	.	.	.	.	.	.	T	0.25257	-1.0137	5	0.62326	D	0.03	.	.	.	.	.	.	.	.	W	491	ENSP00000320207:R491W	ENSP00000320207:R491W	R	+	1	2	GOLGA6L1	20294450	0.006000	0.16342	0.011000	0.14972	0.011000	0.07611	-0.992000	0.03724	0.149000	0.19098	0.152000	0.16155	CGG	GOLGA6L1	-	NULL	ENSG00000197414		0.562	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	GOLGA6L1	HGNC	protein_coding	OTTHUMT00000415616.2	2712	0.04	1	C	NM_001001413		22743086	22743086	+1	no_errors	ENST00000316397	ensembl	human	known	69_37n	missense	340	33.79	174	SNP	0.012	T
GOLGA8G	283768	genome.wustl.edu	37	15	28769168	28769168	+	Missense_Mutation	SNP	C	C	T	rs150644606	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:28769168C>T	ENST00000525590.2	-	15	1389	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	AC138749.1_ENST00000458870.1_RNA|RN7SL829P_ENST00000489494.2_RNA|GOLGA8G_ENST00000329523.6_Intron			Q08AF8	GOG8F_HUMAN	golgin A8 family, member G	225						Golgi apparatus (GO:0005794)				lung(1)	1		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)		GTCCAGATGTCCTCCTCCATC	0.612																																						dbGAP											0													23.0	13.0	17.0					15																	28769168		1851	2322	4173	-	-	-	SO:0001583	missense	0					15q13.1	2013-01-17	2010-02-12		ENSG00000183629	ENSG00000183629			25328	other	unknown			"""golgi autoantigen, golgin subfamily a, 8G"""			12477932	Standard	NR_033353		Approved	DKFZp434K052		Q08AF8	OTTHUMG00000167134	ENST00000525590.2:c.1328G>A	15.37:g.28769168C>T	ENSP00000458130:p.Gly443Glu		A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	NULL	p.G225E	ENST00000525590.2	37	c.674		15																																																																																			GOLGA8G	-	NULL	ENSG00000183629		0.612	GOLGA8G-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8G	HGNC	protein_coding	OTTHUMT00000393332.2	55	0.00	0	C	NR_033353.1		28769168	28769168	-1	no_errors	ENST00000433304	ensembl	human	known	69_37n	missense	0	100.00	23	SNP	0.869	T
GPR179	440435	genome.wustl.edu	37	17	36484393	36484393	+	Missense_Mutation	SNP	C	C	T	rs200260405		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:36484393C>T	ENST00000342292.4	-	11	5079	c.5059G>A	c.(5059-5061)Gac>Aac	p.D1687N	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1687					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)				GGGCAAATGTCGGCAGCTTTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		19748	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	100.0	100.0					17																	36484393		1950	4138	6088	-	-	-	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.5059G>A	17.37:g.36484393C>T	ENSP00000345060:p.Asp1687Asn			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.D1687N	ENST00000342292.4	37	c.5059	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386997	0.42308	.	.	ENSG00000188888	ENST00000342292	T	0.51574	0.7	5.13	4.16	0.48862	.	0.241357	0.29280	N	0.012605	T	0.26048	0.0635	N	0.04959	-0.14	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.15350	-1.0440	10	0.38643	T	0.18	-6.6692	11.1321	0.48354	0.0:0.9136:0.0:0.0864	.	1687	Q6PRD1	GP179_HUMAN	N	1687	ENSP00000345060:D1687N	ENSP00000345060:D1687N	D	-	1	0	GPR179	33737919	0.006000	0.16342	0.079000	0.20413	0.062000	0.15995	0.917000	0.28665	1.389000	0.46526	-0.137000	0.14449	GAC	GPR179	-	NULL	ENSG00000188888		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	84	0.00	0	C			36484393	36484393	-1	no_errors	ENST00000342292	ensembl	human	known	69_37n	missense	33	63.33	57	SNP	0.186	T
GPRIN2	9721	genome.wustl.edu	37	10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	rs72780221	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											8.0	9.0	9.0					10																	47000217		2121	4098	6219	-	-	-	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His		Q5SVF0	Missense_Mutation	SNP	NULL	p.R446H	ENST00000374317.1	37	c.1337	CCDS31192.1	10	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	GPRIN2	-	NULL	ENSG00000204175		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	41	0.00	0	G	NM_014696		47000217	47000217	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.016	A
GPS2	2874	genome.wustl.edu	37	17	7216540	7216540	+	Silent	SNP	G	G	A	rs2270981	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:7216540G>A	ENST00000380728.2	-	9	1095	c.795C>T	c.(793-795)ttC>ttT	p.F265F	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Silent_p.F265F|GPS2_ENST00000391950.3_Silent_p.F265F			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	265					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTGAGTCGGAGAAGCCAGTCT	0.547											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	507	0.101238	0.0386	0.0922	5008	,	,		20827	0.252		0.0457	False		,,,				2504	0.0941					dbGAP											0													131.0	128.0	129.0					17																	7216540		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.795C>T	17.37:g.7216540G>A		640	B4DXA1|Q6FHM8	Missense_Mutation	SNP	NULL	p.S289F	ENST00000380728.2	37	c.866	CCDS11100.1	17																																																																																			GPS2	-	NULL	ENSG00000132522		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	HGNC	protein_coding	OTTHUMT00000220048.4	164	0.00	0	G	NM_004489		7216540	7216540	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570780	ensembl	human	putative	69_37n	missense	34	24.44	11	SNP	1.000	A
GRIN3A	116443	genome.wustl.edu	37	9	104499565	104499565	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:104499565G>C	ENST00000361820.3	-	1	1297	c.697C>G	c.(697-699)Cag>Gag	p.Q233E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	233					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCTCTCACCTGACTCTCCCGT	0.607																																						dbGAP											0													45.0	40.0	42.0					9																	104499565		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.697C>G	9.37:g.104499565G>C	ENSP00000355155:p.Gln233Glu		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.Q233E	ENST00000361820.3	37	c.697	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273791	0.23221	.	.	ENSG00000198785	ENST00000361820	D	0.86562	-2.14	5.39	5.39	0.77823	.	0.848207	0.10550	N	0.661560	T	0.82024	0.4947	N	0.25647	0.755	0.40432	D	0.97995	B	0.09022	0.002	B	0.09377	0.004	T	0.74061	-0.3786	10	0.56958	D	0.05	.	14.7418	0.69461	0.0:0.1444:0.8556:0.0	.	233	Q8TCU5	NMD3A_HUMAN	E	233	ENSP00000355155:Q233E	ENSP00000355155:Q233E	Q	-	1	0	GRIN3A	103539386	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.232000	0.32636	2.515000	0.84797	0.655000	0.94253	CAG	GRIN3A	-	NULL	ENSG00000198785		0.607	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	39	0.00	0	G			104499565	104499565	-1	no_errors	ENST00000361820	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	1.000	C
GRK6	2870	genome.wustl.edu	37	5	176863207	176863207	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:176863207G>A	ENST00000355472.5	+	12	1359	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	GRK6_ENST00000355958.5_Silent_p.V397V|GRK6_ENST00000528793.1_Silent_p.V397V|GRK6_ENST00000507633.1_Silent_p.V397V|GRK6_ENST00000393576.3_Silent_p.V363V|PRR7-AS1_ENST00000425316.3_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	397	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GGGAGGAGGTGGAGCGGCTGG	0.632																																						dbGAP											0													64.0	77.0	73.0					5																	176863207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1191G>A	5.37:g.176863207G>A			O60541|Q13652	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,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,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.V397	ENST00000355472.5	37	c.1191	CCDS34303.1	5																																																																																			GRK6	-	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	ENSG00000198055		0.632	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRK6	HGNC	protein_coding	OTTHUMT00000373204.1	79	0.00	0	G	NM_002082		176863207	176863207	+1	no_errors	ENST00000528793	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	1.000	A
GSTO2	119391	genome.wustl.edu	37	10	106037790	106037790	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:106037790T>A	ENST00000338595.2	+	4	602	c.282T>A	c.(280-282)gaT>gaA	p.D94E	GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000369707.2_Missense_Mutation_p.D66E|GSTO2_ENST00000401888.2_Missense_Mutation_p.D94E|GSTO2_ENST00000450629.2_Missense_Mutation_p.D94E|GSTO2_ENST00000429569.2_Missense_Mutation_p.D66E	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	94	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	AGTACCTGGATGATGCTTATC	0.403																																						dbGAP											0													201.0	164.0	176.0					10																	106037790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.282T>A	10.37:g.106037790T>A	ENSP00000345023:p.Asp94Glu		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega	p.D94E	ENST00000338595.2	37	c.282	CCDS7556.1	10	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223837	0.79576	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000401888;ENST00000369707;ENST00000429569	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.34	4.17	0.49024	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.41632	1.29	0.80722	D	1	D;D;D;D	0.89917	0.987;0.998;0.996;1.0	P;D;D;D	0.97110	0.889;0.979;0.97;1.0	T	0.09015	-1.0694	10	0.46703	T	0.11	-19.3053	11.5245	0.50571	0.0:0.0713:0.0:0.9287	.	66;94;94;94	B4DML4;B4DJW6;B4DU59;Q9H4Y5	.;.;.;GSTO2_HUMAN	E	94;94;94;94;66;66	ENSP00000345023:D94E;ENSP00000390986:D94E;ENSP00000386011:D94E;ENSP00000358721:D66E;ENSP00000407381:D66E	ENSP00000345023:D94E	D	+	3	2	GSTO2	106027780	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	1.026000	0.30103	0.938000	0.37419	0.533000	0.62120	GAT	GSTO2	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000065621		0.403	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTO2	HGNC	protein_coding	OTTHUMT00000050210.2	58	0.00	0	T	NM_183239		106037790	106037790	+1	no_errors	ENST00000338595	ensembl	human	known	69_37n	missense	155	46.55	135	SNP	1.000	A
GTF2IRD1P1	729156	genome.wustl.edu	37	7	66289040	66289040	+	RNA	SNP	C	C	T	rs6460315	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:66289040C>T	ENST00000457166.1	-	0	769					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		CAGAGCTTGGCGATCCCGAAG	0.567													t|||	2320	0.463259	0.6884	0.3516	5008	,	,		18123	0.4524		0.2773	False		,,,				2504	0.4407					dbGAP											0																																										-	-	-			0					7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66289040C>T				RNA	SNP	-	NULL	ENST00000457166.1	37	NULL		7																																																																																			GTF2IRD1P1	-	-	ENSG00000230583		0.567	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	GTF2IRD1P1	HGNC	pseudogene	OTTHUMT00000346561.1	12	0.00	0	C	NR_003934		66289040	66289040	-1	no_errors	ENST00000457166	ensembl	human	known	69_37n	rna	14	51.72	15	SNP	1.000	T
GTF2I	2969	genome.wustl.edu	37	7	74159167	74159167	+	Missense_Mutation	SNP	G	G	C	rs201985028		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:74159167G>C	ENST00000324896.4	+	21	2210	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	GTF2I_ENST00000416070.1_Missense_Mutation_p.L566F|GTF2I_ENST00000438130.2_3'UTR|GTF2I_ENST00000353920.4_Missense_Mutation_p.L587F|GTF2I_ENST00000346152.4_Missense_Mutation_p.L586F	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	607					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CGGAGTTCTTGTATGTGGAAG	0.483																																						dbGAP											0													1.0	1.0	1.0					7																	74159167		213	445	658	-	-	-	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1821G>C	7.37:g.74159167G>C	ENSP00000322542:p.Leu607Phe		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L607F	ENST00000324896.4	37	c.1821	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313097	0.40895	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.97	-9.95	0.00446	.	0.000000	0.52532	D	0.000070	T	0.38026	0.1025	N	0.20574	0.59	0.09310	P	0.99999999706366	D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.997	D;D;D;D;D	0.87578	0.998;0.937;0.991;0.996;0.995	T	0.56932	-0.7897	9	0.62326	D	0.03	-15.7994	5.1909	0.15209	0.0642:0.3302:0.1982:0.4074	.	585;566;587;586;607	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	F	607;602;587;586;566	ENSP00000322542:L607F;ENSP00000322671:L587F;ENSP00000322599:L586F;ENSP00000387651:L566F	ENSP00000322542:L607F	L	+	3	2	GTF2I	73797103	0.151000	0.22747	0.769000	0.31535	0.169000	0.22640	-1.133000	0.03232	-1.759000	0.01313	-0.538000	0.04264	TTG	GTF2I	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000077809		0.483	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	13	0.00	0	G	NM_032999		74159167	74159167	+1	no_errors	ENST00000324896	ensembl	human	known	69_37n	missense	111	27.45	42	SNP	0.729	C
GTPBP4	23560	genome.wustl.edu	37	10	1043148	1043148	+	Splice_Site	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:1043148T>C	ENST00000360803.4	+	5	543	c.461T>C	c.(460-462)gTg>gCg	p.V154A	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Splice_Site_p.V38A|GTPBP4_ENST00000545048.1_Splice_Site_p.V107A	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	154					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CTTTTCCTAGTGCGTCAGCAT	0.378																																						dbGAP											0													179.0	182.0	181.0					10																	1043148		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.461-1T>C	10.37:g.1043148T>C			B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.V154A	ENST00000360803.4	37	c.461	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509766	0.85282	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000360059;ENST00000545048	T;T;T;T	0.38240	2.56;1.15;2.56;2.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.89968	3.075	0.80722	D	1	P	0.51653	0.947	P	0.51999	0.687	T	0.68853	-0.5299	9	.	.	.	.	15.7081	0.77602	0.0:0.0:0.0:1.0	.	154	Q9BZE4	NOG1_HUMAN	A	154;38;107;107	ENSP00000354040:V154A;ENSP00000444277:V38A;ENSP00000353168:V107A;ENSP00000445473:V107A	.	V	+	2	0	GTPBP4	1033148	1.000000	0.71417	0.992000	0.48379	0.699000	0.40488	7.718000	0.84743	2.113000	0.64589	0.454000	0.30748	GTG	GTPBP4	-	NULL	ENSG00000107937		0.378	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	45	0.00	0	T	NM_012341	Missense_Mutation	1043148	1043148	+1	no_errors	ENST00000360803	ensembl	human	known	69_37n	missense	93	51.05	97	SNP	1.000	C
MTG2	26164	genome.wustl.edu	37	20	60768622	60768622	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:60768622C>T	ENST00000370823.3	+	2	164	c.146C>T	c.(145-147)gCg>gTg	p.A49V	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Missense_Mutation_p.A49V	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	49	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GTCGGCCGTGCGGACCTCGCC	0.632																																						dbGAP											0													44.0	46.0	46.0					20																	60768622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.146C>T	20.37:g.60768622C>T	ENSP00000359859:p.Ala49Val		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.A49V	ENST00000370823.3	37	c.146	CCDS13492.1	20	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869679	0.33069	.	.	ENSG00000101181	ENST00000436421;ENST00000370823;ENST00000448254	T;T;T	0.24538	1.85;2.69;2.22	5.31	-0.352	0.12598	.	0.774058	0.12110	N	0.498613	T	0.16854	0.0405	L	0.38531	1.155	0.24134	N	0.995752	B;B;B	0.25169	0.017;0.119;0.017	B;B;B	0.15052	0.003;0.012;0.002	T	0.20438	-1.0275	10	0.31617	T	0.26	-11.6028	8.1119	0.30920	0.0:0.4804:0.0:0.5196	.	49;49;49	Q5JXJ0;E7EU10;Q9H4K7	.;.;GTPB5_HUMAN	V	49	ENSP00000392267:A49V;ENSP00000359859:A49V;ENSP00000414693:A49V	ENSP00000359859:A49V	A	+	2	0	GTPBP5	60202017	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.060000	0.03475	-0.063000	0.13065	-0.142000	0.14014	GCG	GTPBP5	-	NULL	ENSG00000101181		0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	HGNC	protein_coding	OTTHUMT00000079989.1	22	0.00	0	C	NM_015666		60768622	60768622	+1	no_errors	ENST00000370823	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	0.002	T
GUSBP1	728411	genome.wustl.edu	37	5	21501875	21501875	+	RNA	SNP	C	C	T	rs71617525	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:21501875C>T	ENST00000607545.1	+	0	254					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CAATCAAAAACGCAGAAAATA	0.443													.|||	551	0.110024	0.0113	0.098	5008	,	,		17865	0.1706		0.1392	False		,,,				2504	0.1595					dbGAP											0																																										-	-	-			0			BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21501875C>T			A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	-	NULL	ENST00000607545.1	37	NULL		5																																																																																			RP11-823P9.1	-	-	ENSG00000183666		0.443	GUSBP1-006	KNOWN	basic	processed_transcript	GUSBP1	Clone_based_vega_gene	pseudogene	OTTHUMT00000470546.1	18	0.00	0	C	NG_008324		21501875	21501875	+1	no_errors	ENST00000508260	ensembl	human	known	69_37n	rna	18	62.50	30	SNP	1.000	T
GYG2	8908	genome.wustl.edu	37	X	2761050	2761050	+	Missense_Mutation	SNP	C	C	T	rs11797037	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:2761050C>T	ENST00000381163.3	+	3	301	c.19C>T	c.(19-21)Cac>Tac	p.H7Y	GYG2_ENST00000398806.3_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.H7Y|GYG2_ENST00000542787.1_Missense_Mutation_p.H7Y|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	7			H -> Y (in dbSNP:rs11797037).		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)				gacagagtttcaccatggtgc	0.537													.|||	598	0.158411	0.0386	0.0951	3775	,	,		14721	0.1349		0.1312	False		,,,				2504	0.2178					dbGAP											0													3.0	5.0	4.0					X																	2761050		534	620	1154	-	-	-	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.19C>T	X.37:g.2761050C>T	ENSP00000370555:p.His7Tyr		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.H7Y	ENST00000381163.3	37	c.19	CCDS14121.1	X	226	0.13622664255575648	15	0.03125	23	0.06927710843373494	43	0.08365758754863813	68	0.09659090909090909	c	4.173	0.030715	0.08101	.	.	ENSG00000056998	ENST00000381163;ENST00000338623;ENST00000542787	T;T;T	0.02323	4.34;4.34;4.34	0.502	-0.51	0.11973	.	.	.	.	.	T	0.00073	0.0002	L	0.46567	1.45	0.80722	P	0.0	P	0.38110	0.618	B	0.23018	0.043	T	0.43410	-0.9393	7	0.87932	D	0	.	.	.	.	rs11797037	7	O15488	GLYG2_HUMAN	Y	7	ENSP00000370555:H7Y;ENSP00000341273:H7Y;ENSP00000446092:H7Y	ENSP00000341273:H7Y	H	+	1	0	GYG2	2771050	0.014000	0.17966	0.001000	0.08648	0.026000	0.11368	0.300000	0.19156	-0.360000	0.08138	0.287000	0.19450	CAC	GYG2	-	NULL	ENSG00000056998		0.537	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	17	0.00	0	C	NM_003918		2761050	2761050	+1	no_errors	ENST00000381163	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.001	T
HDAC7	51564	genome.wustl.edu	37	12	48185714	48185714	+	Silent	SNP	G	G	A	rs561583033		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:48185714G>A	ENST00000427332.2	-	14	1791	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	HDAC7_ENST00000354334.3_Silent_p.A547A|HDAC7_ENST00000380610.4_Silent_p.A601A|HDAC7_ENST00000080059.7_Silent_p.A584A|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000552960.1_Silent_p.A567A			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	545	Histone deacetylase.|Transcription repression 2. {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)		GGATGCGGCCGGCGTGCTCCG	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		9435	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													13.0	15.0	15.0					12																	48185714		2200	4295	6495	-	-	-	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.1635C>T	12.37:g.48185714G>A			B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	pfam_His_deacetylse_dom	p.R13W	ENST00000427332.2	37	c.37		12	.	.	.	.	.	.	.	.	.	.	G	2.872	-0.233706	0.05983	.	.	ENSG00000061273	ENST00000548080	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	.	0.6189	0.00775	0.349:0.1671:0.1341:0.3497	.	.	.	.	L	25	.	.	P	-	2	0	HDAC7	46471981	0.000000	0.05858	0.138000	0.22173	0.197000	0.23852	-4.565000	0.00215	-2.415000	0.00568	-0.261000	0.10672	CCG	HDAC7	-	pfam_His_deacetylse_dom	ENSG00000061273		0.682	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	10	0.00	0	G			48185714	48185714	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000551602	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.089	A
HECTD1	25831	genome.wustl.edu	37	14	31642857	31642857	+	Silent	SNP	T	T	G	rs146862452	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:31642857T>G	ENST00000399332.1	-	5	1247	c.759A>C	c.(757-759)gcA>gcC	p.A253A	HECTD1_ENST00000553700.1_Silent_p.A253A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	253					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGGTTTGCATGCTGATGATG	0.488													T|||	6	0.00119808	0.0	0.0	5008	,	,		17640	0.006		0.0	False		,,,				2504	0.0					dbGAP											0													89.0	92.0	91.0					14																	31642857		2097	4238	6335	-	-	-	SO:0001819	synonymous_variant	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.759A>C	14.37:g.31642857T>G			D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.A253	ENST00000399332.1	37	c.759	CCDS41939.1	14																																																																																			HECTD1	-	superfamily_ARM-type_fold	ENSG00000092148		0.488	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	38	0.00	0	T			31642857	31642857	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	silent	61	43.52	47	SNP	1.000	G
HERC2P2	400322	genome.wustl.edu	37	15	23299942	23299942	+	RNA	SNP	C	C	T	rs28719568		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:23299942C>T	ENST00000560464.1	-	0	4345									hect domain and RLD 2 pseudogene 2																		TTCCCGGAAGCACCAGTGAGA	0.577																																						dbGAP											0																																										-	-	-			0			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299942C>T				RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-	ENSG00000140181		0.577	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	11	0.00	0	C			23299942	23299942	-1	no_errors	ENST00000560464	ensembl	human	known	69_37n	rna	1	96.88	31	SNP	1.000	T
HERC2P2	400322	genome.wustl.edu	37	15	23318668	23318668	+	RNA	SNP	G	G	A	rs199970962	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:23318668G>A	ENST00000560464.1	-	0	2415									hect domain and RLD 2 pseudogene 2																		AAGCACCTTGGGCAGAAGCAT	0.507													a|||	199	0.0397364	0.0779	0.0231	5008	,	,		17081	0.006		0.0189	False		,,,				2504	0.0562					dbGAP											0																																										-	-	-			0			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23318668G>A				RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-	ENSG00000140181		0.507	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	14	0.00	0	G			23318668	23318668	-1	no_errors	ENST00000560464	ensembl	human	known	69_37n	rna	0	100.00	4	SNP	0.738	A
HERC2P2	400322	genome.wustl.edu	37	15	23326283	23326283	+	RNA	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:23326283C>T	ENST00000560464.1	-	0	2020									hect domain and RLD 2 pseudogene 2																		TACCCTATATCGATTCCCTCA	0.378																																						dbGAP											0																																										-	-	-			0			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23326283C>T				RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	C	2.641	-0.284086	0.05642	.	.	ENSG00000140181	ENST00000454333;ENST00000422607	.	.	.	2.5	1.54	0.23209	.	.	.	.	.	T	0.11793	0.0287	.	.	.	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.38286	-0.9668	6	0.02654	T	1	.	3.5027	0.07679	0.0:0.563:0.0:0.437	.	281	E7EMG2	.	N	98;281	.	ENSP00000400381:D281N	D	-	1	0	AC091565.1	20877724	1.000000	0.71417	0.999000	0.59377	0.154000	0.21943	2.654000	0.46699	1.389000	0.46526	0.184000	0.17185	GAT	HERC2P2	-	-	ENSG00000140181		0.378	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	27	0.00	0	C			23326283	23326283	-1	no_errors	ENST00000560464	ensembl	human	known	69_37n	rna	30	49.18	30	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28478469	28478469	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:28478469G>A	ENST00000261609.7	-	30	4606	c.4498C>T	c.(4498-4500)Cgt>Tgt	p.R1500C		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)		TTGTAAGAACGGCCCTGTTCT	0.383																																						dbGAP											0													11.0	15.0	14.0					15																	28478469		1764	3916	5680	-	-	-	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.4498C>T	15.37:g.28478469G>A	ENSP00000261609:p.Arg1500Cys			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.R1500C	ENST00000261609.7	37	c.4498	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	g	13.94	2.386821	0.42308	.	.	ENSG00000128731	ENST00000261609	T	0.44482	0.92	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55611	-0.8114	10	0.44086	T	0.13	.	12.8931	0.58082	0.0:0.0:0.837:0.163	.	1500	O95714	HERC2_HUMAN	C	1500	ENSP00000261609:R1500C	ENSP00000261609:R1500C	R	-	1	0	HERC2	26152064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.340000	0.79292	2.294000	0.77228	0.645000	0.84053	CGT	HERC2	-	NULL	ENSG00000128731		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	43	0.00	0	G	NM_004667		28478469	28478469	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	44	54.17	52	SNP	1.000	A
HERC4	26091	genome.wustl.edu	37	10	69692462	69692462	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:69692462C>T	ENST00000395198.3	-	24	3001	c.2754G>A	c.(2752-2754)gcG>gcA	p.A918A	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.A808A|HERC4_ENST00000412272.2_Silent_p.A840A|HERC4_ENST00000373700.4_Silent_p.A910A	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	918	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A918A(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TATGAAAGCCCGCATGAAAAG	0.378																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											112.0	113.0	113.0					10																	69692462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2754G>A	10.37:g.69692462C>T			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A918	ENST00000395198.3	37	c.2754	CCDS41533.1	10																																																																																			HERC4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000148634		0.378	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	81	0.00	0	C	NM_015601		69692462	69692462	-1	no_errors	ENST00000395198	ensembl	human	known	69_37n	silent	179	23.18	54	SNP	0.995	T
HHIPL1	84439	genome.wustl.edu	37	14	100118587	100118587	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:100118587C>T	ENST00000330710.5	+	2	380	c.282C>T	c.(280-282)ctC>ctT	p.L94L	HHIPL1_ENST00000357223.2_Silent_p.L94L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	94					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)				CAGCCCACCTCTATGACGCCG	0.612																																						dbGAP											0													67.0	64.0	65.0					14																	100118587		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.282C>T	14.37:g.100118587C>T			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.L94	ENST00000330710.5	37	c.282	CCDS45162.1	14																																																																																			HHIPL1	-	pfam_Folate_rcpt-like	ENSG00000182218		0.612	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	37	0.00	0	C	XM_041566		100118587	100118587	+1	no_errors	ENST00000330710	ensembl	human	known	69_37n	silent	8	46.67	7	SNP	0.994	T
HIATL1	84641	genome.wustl.edu	37	9	97203308	97203308	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:97203308T>G	ENST00000375344.3	+	5	706	c.437T>G	c.(436-438)gTc>gGc	p.V146G	HIATL1_ENST00000428393.2_Missense_Mutation_p.V81G	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	146					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GTCTTCTCGGTCACGTTTTCT	0.373																																					Pancreas(77;1260 1915 1973 10423)	dbGAP											0													136.0	129.0	131.0					9																	97203308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.437T>G	9.37:g.97203308T>G	ENSP00000364493:p.Val146Gly		B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.V146G	ENST00000375344.3	37	c.437	CCDS6710.2	9	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350991	0.82132	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.74106	-0.81;-0.81	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.44483	D	0.000458	T	0.78929	0.4361	L	0.59967	1.855	0.80722	D	1	P;P	0.50443	0.792;0.935	P;P	0.57620	0.643;0.824	T	0.76971	-0.2761	10	0.33141	T	0.24	-11.8188	11.8127	0.52192	0.0:0.0:0.0:1.0	.	81;146	B4DUE6;Q5SR56	.;HIAL1_HUMAN	G	146;81	ENSP00000364493:V146G;ENSP00000405909:V81G	ENSP00000364493:V146G	V	+	2	0	HIATL1	96243129	1.000000	0.71417	0.975000	0.42487	0.980000	0.70556	7.565000	0.82337	2.109000	0.64355	0.455000	0.32223	GTC	HIATL1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	ENSG00000148110		0.373	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIATL1	HGNC	protein_coding	OTTHUMT00000053184.1	110	0.00	0	T	NM_032558		97203308	97203308	+1	no_errors	ENST00000375344	ensembl	human	known	69_37n	missense	171	22.52	50	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12125573	12125573	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:12125573A>G	ENST00000379388.2	+	4	5877	c.5545A>G	c.(5545-5547)Ata>Gta	p.I1849V	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1849					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)				ATTTGTCGTTATAGAACCTAT	0.343																																						dbGAP											0													82.0	77.0	79.0					6																	12125573		1842	4089	5931	-	-	-	SO:0001583	missense	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.5545A>G	6.37:g.12125573A>G	ENSP00000368698:p.Ile1849Val		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I1849V	ENST00000379388.2	37	c.5545	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	A	0.048	-1.258400	0.01445	.	.	ENSG00000095951	ENST00000379388	T	0.08546	3.08	5.95	-4.27	0.03744	.	0.945774	0.08641	N	0.915518	T	0.01189	0.0039	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48614	-0.9020	9	.	.	.	-0.3298	3.6735	0.08283	0.2064:0.207:0.4451:0.1415	.	1849	P15822	ZEP1_HUMAN	V	1849	ENSP00000368698:I1849V	.	I	+	1	0	HIVEP1	12233559	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.450000	0.21762	-0.326000	0.08564	-0.290000	0.09829	ATA	HIVEP1	-	NULL	ENSG00000095951		0.343	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	76	0.00	0	A	NM_002114		12125573	12125573	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	missense	51	52.78	57	SNP	0.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12125792	12125792	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:12125792T>C	ENST00000379388.2	+	4	6096	c.5764T>C	c.(5764-5766)Ttg>Ctg	p.L1922L	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1922					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)				TTCTCTTTCATTGTTTAACAT	0.418																																						dbGAP											0													87.0	84.0	85.0					6																	12125792		1926	4122	6048	-	-	-	SO:0001819	synonymous_variant	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.5764T>C	6.37:g.12125792T>C			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1922	ENST00000379388.2	37	c.5764	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.418	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	50	0.00	0	T	NM_002114		12125792	12125792	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	silent	24	45.45	20	SNP	0.000	C
HIST1H1E	3008	genome.wustl.edu	37	6	26157103	26157103	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:26157103C>G	ENST00000304218.3	+	1	545	c.485C>G	c.(484-486)gCt>gGt	p.A162G	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	162					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGCCGGCTGCAGCTGCT	0.587																																						dbGAP											0													14.0	20.0	18.0					6																	26157103		2187	4290	6477	-	-	-	SO:0001583	missense	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.485C>G	6.37:g.26157103C>G	ENSP00000307705:p.Ala162Gly		Q4VB25	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A162G	ENST00000304218.3	37	c.485	CCDS4586.1	6	.	.	.	.	.	.	.	.	.	.	.	14.76	2.630209	0.46944	.	.	ENSG00000168298	ENST00000304218	T	0.25414	1.8	5.49	5.49	0.81192	.	0.276457	0.33199	N	0.005180	T	0.20740	0.0499	L	0.46819	1.47	0.58432	D	0.999999	D	0.56968	0.978	P	0.47603	0.551	T	0.00591	-1.1655	10	0.33940	T	0.23	-3.3278	17.2218	0.86959	0.0:1.0:0.0:0.0	.	162	P10412	H14_HUMAN	G	162	ENSP00000307705:A162G	ENSP00000307705:A162G	A	+	2	0	HIST1H1E	26265082	1.000000	0.71417	0.187000	0.23214	0.957000	0.61999	4.856000	0.62932	2.723000	0.93209	0.655000	0.94253	GCT	HIST1H1E	-	prints_Histone_H5	ENSG00000168298		0.587	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	13	0.00	0	C	NM_005321		26157103	26157103	+1	no_errors	ENST00000304218	ensembl	human	known	69_37n	missense	5	70.59	12	SNP	0.996	G
HLA-C	3107	genome.wustl.edu	37	6	31237779	31237779	+	Missense_Mutation	SNP	C	C	T	rs146911342	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:31237779C>T	ENST00000376228.5	-	5	993	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	HLA-C_ENST00000383329.3_Missense_Mutation_p.V327M	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	333					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCGGTGACCACAGCTCCAAGG	0.582													C|||	709	0.141573	0.2428	0.1873	5008	,	,		11193	0.0367		0.1372	False		,,,				2504	0.0849					dbGAP											0													40.0	45.0	43.0					6																	31237779		2159	4203	6362	-	-	-	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.979G>A	6.37:g.31237779C>T	ENSP00000365402:p.Val327Met		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.V364M	ENST00000376228.5	37	c.1090	CCDS34393.1	6	275	0.1259157509157509	97	0.19715447154471544	64	0.17679558011049723	26	0.045454545454545456	88	0.11609498680738786	.	3.463	-0.109657	0.06924	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.01076	5.37;5.37	2.67	-1.63	0.08345	.	.	.	.	.	T	0.00552	0.0018	M	0.69248	2.105	0.80722	P	0.0	B;B;B;B	0.18461	0.028;0.023;0.011;0.023	B;B;B;B	0.21546	0.035;0.021;0.035;0.021	T	0.38607	-0.9653	8	0.59425	D	0.04	.	3.7152	0.08435	0.0:0.34:0.3867:0.2733	rs41547312;rs41547313;rs41547314;rs41547315;rs41547316;rs41547317;rs41547318;rs41547319;rs41547320;rs41547321;rs41547322;rs41547323;rs41547324;rs41547325;rs41547326;rs41547327;rs41547328;rs41547329;rs41547330	327;327;327;327	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	M	327;327;327;364	ENSP00000365402:V327M;ENSP00000372819:V327M	ENSP00000365402:V327M	V	-	1	0	HLA-C	31345758	0.000000	0.05858	0.210000	0.23637	0.050000	0.14768	0.547000	0.23299	-0.380000	0.07894	0.298000	0.19748	GTG	HLA-C	-	NULL	ENSG00000204525		0.582	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	25	0.00	0	C	NM_002117		31237779	31237779	-1	no_errors	ENST00000539307	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.239	T
HLA-DQA1	3117	genome.wustl.edu	37	6	32609239	32609241	+	In_Frame_Del	DEL	GGT	GGT	-	rs12722072|rs41556812|rs12722074|rs534654325	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32609239_32609241delGGT	ENST00000343139.5	+	2	337_339	c.235_237delGGT	c.(235-237)ggtdel	p.G79del	HLA-DQA1_ENST00000374949.2_In_Frame_Del_p.G79del|HLA-DQA1_ENST00000395363.1_In_Frame_Del_p.G79del	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAATTTGGAGGTTTTGACCCGC	0.502														1751	0.349641	0.3646	0.4236	5008	,	,		12241	0.2669		0.4046	False		,,,				2504	0.3057					dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.235_237delGGT	6.37:g.32609239_32609241delGGT	ENSP00000339398:p.Gly79del		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	In_Frame_Del	DEL	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.G79in_frame_del	ENST00000343139.5	37	c.235_237	CCDS4752.1	6																																																																																			HLA-DQA1	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N	ENSG00000196735		0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	89	0.00	0	GGT	NM_002122		32609239	32609241	+1	no_errors	ENST00000343139	ensembl	human	known	69_37n	in_frame_del	0	100.00	18	DEL	0.000:0.000:0.003	-
HLA-DRB5	3127	genome.wustl.edu	37	6	32487420	32487420	+	Missense_Mutation	SNP	T	T	G	rs138786370	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32487420T>G	ENST00000374975.3	-	3	441	c.379A>C	c.(379-381)Aag>Cag	p.K127Q		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ACAGTCACCTTAGGCTCAACT	0.498																																						dbGAP											0													37.0	38.0	38.0					6																	32487420		1607	3733	5340	-	-	-	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.379A>C	6.37:g.32487420T>G	ENSP00000364114:p.Lys127Gln			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.K127Q	ENST00000374975.3	37	c.379	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	11.58	1.682409	0.29872	.	.	ENSG00000198502	ENST00000374975	T	0.00633	6.08	4.69	-1.05	0.10036	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.386330	0.04242	N	0.337212	T	0.00271	0.0008	L	0.33792	1.035	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.20577	0.003;0.03	T	0.40720	-0.9548	10	0.46703	T	0.11	.	7.6901	0.28563	0.1332:0.0:0.4144:0.4524	.	54;127	Q29973;Q30154	.;DRB5_HUMAN	Q	127	ENSP00000364114:K127Q	ENSP00000364114:K127Q	K	-	1	0	HLA-DRB5	32595398	0.000000	0.05858	0.004000	0.12327	0.309000	0.27889	-1.147000	0.03188	-0.203000	0.10251	-0.373000	0.07131	AAG	HLA-DRB5	-	pfscan_Ig-like	ENSG00000198502		0.498	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	49	0.00	0	T	NM_002125		32487420	32487420	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.002	G
HLA-DRB5	3127	genome.wustl.edu	37	6	32489825	32489825	+	Missense_Mutation	SNP	T	T	A	rs148834340	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32489825T>A	ENST00000374975.3	-	2	289	c.227A>T	c.(226-228)tAc>tTc	p.Y76F		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CACCGCCCGGTACTCCCCCAC	0.617													T|||	708	0.141374	0.1846	0.0778	5008	,	,		4676	0.1667		0.1312	False		,,,				2504	0.1125					dbGAP											0													37.0	34.0	35.0					6																	32489825		2158	4211	6369	-	-	-	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.227A>T	6.37:g.32489825T>A	ENSP00000364114:p.Tyr76Phe			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.Y76F	ENST00000374975.3	37	c.227	CCDS4751.1	6	135	0.061813186813186816	42	0.08536585365853659	28	0.07734806629834254	28	0.04895104895104895	37	0.048812664907651716	.	8.312	0.822355	0.16678	.	.	ENSG00000198502	ENST00000374975	T	0.00235	8.48	4.72	-9.43	0.00607	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.724315	0.13812	N	0.361053	T	0.00039	0.0001	N	0.12569	0.235	0.09310	N	1	B;B	0.21905	0.002;0.062	B;B	0.32393	0.014;0.145	T	0.34725	-0.9817	10	0.11182	T	0.66	.	9.9706	0.41752	0.6738:0.0:0.1796:0.1466	.	3;76	Q29973;Q30154	.;DRB5_HUMAN	F	76	ENSP00000364114:Y76F	ENSP00000364114:Y76F	Y	-	2	0	HLA-DRB5	32597803	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-6.497000	0.00064	-2.805000	0.00350	0.352000	0.21897	TAC	HLA-DRB5	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000198502		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	41	0.00	0	T	NM_002125		32489825	32489825	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	0.000	A
HLA-DRB1	3123	genome.wustl.edu	37	6	32548632	32548632	+	Splice_Site	SNP	T	T	A	rs1136881	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32548632T>A	ENST00000360004.5	-	4	759	c.654A>T	c.(652-654)agA>agT	p.R218S		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	218	Beta-2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CAGACCGTGCTCCTGAGAGAG	0.493										Multiple Myeloma(14;0.17)																												dbGAP											0													74.0	83.0	79.0					6																	32548632		1511	2709	4220	-	-	-	SO:0001630	splice_region_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.653-1A>T	6.37:g.32548632T>A			P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.R218S	ENST00000360004.5	37	c.654	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	7.979	0.750737	0.15778	.	.	ENSG00000196126	ENST00000360004	T	0.07688	3.17	3.98	1.02	0.19986	Immunoglobulin-like fold (3);	0.645090	0.16985	N	0.191537	T	0.03477	0.0100	M	0.68317	2.08	0.80722	D	1	B;B;P	0.51449	0.011;0.027;0.945	B;B;B	0.37451	0.01;0.05;0.25	T	0.43114	-0.9411	10	0.59425	D	0.04	.	7.0655	0.25149	0.0:0.6544:0.0:0.3456	rs1136881;rs2308782;rs2308820;rs3200532;rs3830124;rs17433989;rs17856139;rs17883227	218;218;218	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	S	218	ENSP00000353099:R218S	ENSP00000353099:R218S	R	-	3	2	HLA-DRB1	32656610	0.000000	0.05858	0.718000	0.30602	0.080000	0.17528	-0.892000	0.04131	-0.038000	0.13624	-0.479000	0.04858	AGA	HLA-DRB1	-	NULL	ENSG00000196126		0.493	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	126	0.00	0	T	NM_002124	Missense_Mutation	32548632	32548632	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	missense	174	32.30	83	SNP	0.987	A
HLA-DRB1	3123	genome.wustl.edu	37	6	32549464	32549464	+	Silent	SNP	T	T	C	rs78767604	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32549464T>C	ENST00000360004.5	-	3	627	c.522A>G	c.(520-522)acA>acG	p.T174T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	174	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGATCAGGCCTGTGGACACCA	0.547										Multiple Myeloma(14;0.17)																												dbGAP											0													130.0	149.0	142.0					6																	32549464		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.522A>G	6.37:g.32549464T>C			P01914|Q9MYF5	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.T174	ENST00000360004.5	37	c.522	CCDS47409.1	6																																																																																			HLA-DRB1	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000196126		0.547	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	19	0.00	0	T	NM_002124		32549464	32549464	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.983	C
HLA-DRB1	3123	genome.wustl.edu	37	6	32551970	32551970	+	Missense_Mutation	SNP	T	T	A	rs17886918		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32551970T>A	ENST00000360004.5	-	2	391	c.286A>T	c.(286-288)Atc>Ttc	p.I96F		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	96	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGCTCCAGGATGTCCTTCTGG	0.672										Multiple Myeloma(14;0.17)																												dbGAP											0													33.0	36.0	35.0					6																	32551970		2162	4259	6421	-	-	-	SO:0001583	missense	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.286A>T	6.37:g.32551970T>A	ENSP00000353099:p.Ile96Phe		P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.I96F	ENST00000360004.5	37	c.286	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.438966	0.00180	.	.	ENSG00000196126	ENST00000360004	T	0.00348	8.0	3.52	-7.04	0.01578	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	1.895520	0.03286	N	0.186942	T	0.00039	0.0001	N	0.13352	0.335	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47509	-0.9112	10	0.09084	T	0.74	.	0.2335	0.00183	0.3378:0.1721:0.1674:0.3228	rs17886918	96	P01911	2B1F_HUMAN	F	96	ENSP00000353099:I96F	ENSP00000353099:I96F	I	-	1	0	HLA-DRB1	32659948	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.442000	0.00011	-6.711000	0.00003	-3.238000	0.00051	ATC	HLA-DRB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000196126		0.672	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	32	0.00	0	T	NM_002124		32551970	32551970	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	missense	0	50.00	3	SNP	0.000	A
HLA-DQB2	3120	genome.wustl.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000435145.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G			A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.L237	ENST00000437316.2	37	c.711		6																																																																																			HLA-DQB2	-	NULL	ENSG00000232629		0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	HLA-DQB2	HGNC	protein_coding	OTTHUMT00000076216.2	26	0.00	0	C			32725596	32725596	-1	no_errors	ENST00000435145	ensembl	human	known	69_37n	silent	37	37.29	22	SNP	0.798	G
HPX	3263	genome.wustl.edu	37	11	6452443	6452443	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:6452443A>G	ENST00000265983.3	-	10	1487	c.1387T>C	c.(1387-1389)Tga>Cga	p.*463R		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	0					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AAGGCCCCTCAGTGAGTGCAG	0.532																																						dbGAP											0													53.0	52.0	52.0					11																	6452443		2201	4296	6497	-	-	-	SO:0001578	stop_lost	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1387T>C	11.37:g.6452443A>G	ENSP00000265983:p.*463Glyext*4		B2R957	Nonstop_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	p.*463R	ENST00000265983.3	37	c.1387	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550369	0.65311	.	.	ENSG00000110169	ENST00000265983	.	.	.	5.1	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9591	0.35836	0.9106:0.0:0.0894:0.0	.	.	.	.	R	463	.	.	X	-	1	0	HPX	6409019	0.000000	0.05858	0.001000	0.08648	0.879000	0.50718	0.735000	0.26115	0.802000	0.34089	0.459000	0.35465	TGA	HPX	-	NULL	ENSG00000110169		0.532	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	59	0.00	0	A	NM_000613		6452443	6452443	-1	no_errors	ENST00000265983	ensembl	human	known	69_37n	nonstop	20	48.72	19	SNP	0.003	G
HRNR	388697	genome.wustl.edu	37	1	152191107	152191107	+	Missense_Mutation	SNP	C	C	A	rs553143273	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:152191107C>A	ENST00000368801.2	-	3	3073	c.2998G>T	c.(2998-3000)Ggg>Tgg	p.G1000W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1000					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAGACCCATGTTGGCCG	0.587													C|||	10	0.00199681	0.0	0.0	5008	,	,		24342	0.001		0.0	False		,,,				2504	0.0092					dbGAP											0													125.0	131.0	129.0					1																	152191107		2203	4293	6496	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2998G>T	1.37:g.152191107C>A	ENSP00000357791:p.Gly1000Trp		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G1000W	ENST00000368801.2	37	c.2998	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.454	0.268799	0.10349	.	.	ENSG00000197915	ENST00000368801	T	0.11712	2.75	3.67	-1.44	0.08856	.	.	.	.	.	T	0.10551	0.0258	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.10268	-1.0637	9	0.66056	D	0.02	.	7.1583	0.25649	0.0:0.4929:0.0:0.5071	.	1000	Q86YZ3	HORN_HUMAN	W	1000	ENSP00000357791:G1000W	ENSP00000357791:G1000W	G	-	1	0	HRNR	150457731	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.730000	0.04915	-0.415000	0.07484	0.556000	0.70494	GGG	HRNR	-	NULL	ENSG00000197915		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	42	0.00	0	C	XM_373868		152191107	152191107	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	46	50.00	46	SNP	0.001	A
HYDIN	54768	genome.wustl.edu	37	16	70989311	70989311	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:70989311T>C	ENST00000393567.2	-	40	6433	c.6283A>G	c.(6283-6285)Ata>Gta	p.I2095V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2095					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)				GACTGCTCTATGGCAGCCCTG	0.572																																						dbGAP											0													75.0	73.0	74.0					16																	70989311		1971	4147	6118	-	-	-	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.6283A>G	16.37:g.70989311T>C	ENSP00000377197:p.Ile2095Val		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.I2094V	ENST00000393567.2	37	c.6280	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	9.909	1.209055	0.22205	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.24908	1.83	4.66	2.35	0.29111	.	0.000000	0.36665	U	0.002463	T	0.15046	0.0363	L	0.42245	1.32	0.80722	D	1	B	0.16396	0.017	B	0.12156	0.007	T	0.08973	-1.0696	10	0.11182	T	0.66	.	2.6422	0.04974	0.1486:0.0822:0.1547:0.6145	.	2094	F8WD23	.	V	2095;2094	ENSP00000377197:I2095V	ENSP00000310485:I386V	I	-	1	0	HYDIN	69546812	0.998000	0.40836	0.995000	0.50966	0.941000	0.58515	1.090000	0.30902	0.720000	0.32209	0.418000	0.28097	ATA	HYDIN	-	NULL	ENSG00000157423		0.572	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	16	0.00	0	T			70989311	70989311	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	24	47.83	22	SNP	0.978	C
HYDIN	54768	genome.wustl.edu	37	16	71163693	71163693	+	Silent	SNP	A	A	G	rs4788770	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:71163693A>G	ENST00000393567.2	-	9	1227	c.1077T>C	c.(1075-1077)gaT>gaC	p.D359D	HYDIN_ENST00000321489.5_Silent_p.D359D|HYDIN_ENST00000393550.2_Silent_p.D359D|HYDIN_ENST00000448089.2_Silent_p.D359D|HYDIN_ENST00000538248.1_Silent_p.D386D|HYDIN_ENST00000288168.10_Silent_p.D376D|HYDIN_ENST00000448691.1_Silent_p.D359D|HYDIN_ENST00000541601.1_Silent_p.D376D	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	359					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)				CATCAGTCTCATCCTTCTCCT	0.453																																						dbGAP											0													21.0	21.0	21.0					16																	71163693		2197	4279	6476	-	-	-	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.1077T>C	16.37:g.71163693A>G			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.D359	ENST00000393567.2	37	c.1077	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	56	0.00	0	A			71163693	71163693	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	silent	64	31.18	29	SNP	0.002	G
ICOSLG	23308	genome.wustl.edu	37	21	45649848	45649848	+	Intron	SNP	T	T	C	rs13052840	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr21:45649848T>C	ENST00000407780.3	-	6	1026				ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.Q329Q|ICOSLG_ENST00000344330.4_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CTTTTGCCTTTTGAAAGTTTT	0.562													T|||	3119	0.622804	0.6188	0.6744	5008	,	,		15486	0.5665		0.7117	False		,,,				2504	0.5583					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.898+88A>G	21.37:g.45649848T>C			A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.Q329	ENST00000407780.3	37	c.987	CCDS42952.1	21																																																																																			ICOSLG	-	NULL	ENSG00000160223		0.562	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	16	0.00	0	T	NM_015259		45649848	45649848	-1	no_errors	ENST00000400379	ensembl	human	putative	69_37n	silent	7	66.67	14	SNP	0.003	C
IDI2-AS1	55853	genome.wustl.edu	37	10	1081882	1081882	+	RNA	SNP	T	T	C	rs7075695	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:1081882T>C	ENST00000428780.2	+	0	245				IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NR_024628.1		Q9NZ38	IDAS1_HUMAN	IDI2 antisense RNA 1																		GAGAGGGAACTGTCTGTACAC	0.498													C|||	990	0.197684	0.2413	0.1902	5008	,	,		19814	0.1825		0.1829	False		,,,				2504	0.1748					dbGAP											0																																										-	-	-			0			AF220183		10p15.3	2014-01-15	2012-08-15	2010-11-25	ENSG00000232656	ENSG00000232656		"""Long non-coding RNAs"""	30885	non-coding RNA	RNA, long non-coding		615391	"""chromosome 10 open reading frame 110"", ""IDI2 antisense RNA (non-protein coding)"", ""IDI2 antisense RNA 1 (non-protein coding)"""	C10orf110, IDI2-AS		24036268	Standard	NR_024628		Approved	HT009, Em:AC022536.4	uc001ifw.3	Q9NZ38	OTTHUMG00000017535		10.37:g.1081882T>C				RNA	SNP	-	NULL	ENST00000428780.2	37	NULL		10																																																																																			IDI2-AS1	-	-	ENSG00000232656		0.498	IDI2-AS1-002	KNOWN	basic	antisense	IDI2-AS1	HGNC	antisense	OTTHUMT00000046403.1	23	0.00	0	T	NR_024628		1081882	1081882	+1	no_errors	ENST00000420381	ensembl	human	known	69_37n	rna	11	52.17	12	SNP	0.001	C
IDI1	3422	genome.wustl.edu	37	10	1088646	1088646	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:1088646C>T	ENST00000381344.3	-	4	629	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	98	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GCGTCACTTTCCTCAAGCTCG	0.463																																						dbGAP											0													111.0	98.0	102.0					10																	1088646		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.463G>A	10.37:g.1088646C>T	ENSP00000370748:p.Glu155Lys		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E155K	ENST00000381344.3	37	c.463	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672968	0.47781	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.85719	0.1324	9	0.56958	D	0.05	6.0E-4	17.5646	0.87916	0.0:1.0:0.0:0.0	.	155	Q13907-2	.	K	155;69;98	.	ENSP00000370748:E155K	E	-	1	0	IDI1	1078646	1.000000	0.71417	0.444000	0.26895	0.017000	0.09413	5.374000	0.66167	2.172000	0.68678	0.563000	0.77884	GAA	IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000067064		0.463	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	62	0.00	0	C	NM_004508		1088646	1088646	-1	no_errors	ENST00000381344	ensembl	human	known	69_37n	missense	81	16.49	16	SNP	1.000	T
IFNA4	3441	genome.wustl.edu	37	9	21187311	21187311	+	Missense_Mutation	SNP	C	C	T	rs1062571	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:21187311C>T	ENST00000421715.1	-	1	287	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	74			A -> T (in alpha-4B; dbSNP:rs1062571). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:4057246, ECO:0000269|Ref.4}.		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(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGGCTTGAGCCTTCTGGAAC	0.507													c|||	3405	0.679912	0.6142	0.6326	5008	,	,		19521	0.8611		0.5517	False		,,,				2504	0.7474				NSCLC(154;890 1986 23660 27800 51138)	dbGAP											0													80.0	79.0	79.0					9																	21187311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.220G>A	9.37:g.21187311C>T	ENSP00000412897:p.Ala74Thr		P13358|Q14CS4|Q5VV15	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.A74T	ENST00000421715.1	37	c.220	CCDS6498.1	9	1416	0.6483516483516484	296	0.6016260162601627	234	0.6464088397790055	484	0.8461538461538461	402	0.5303430079155673	c	9.495	1.101676	0.20632	.	.	ENSG00000236637	ENST00000421715	T	0.03920	3.76	2.96	1.06	0.20224	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.403303	0.25313	N	0.031561	T	0.00012	0.0000	L	0.47016	1.485	0.80722	P	0.0	B	0.06786	0.001	B	0.22753	0.041	T	0.03296	-1.1051	9	0.44086	T	0.13	.	6.4897	0.22109	0.0:0.7509:0.0:0.2491	rs1062571;rs3750481;rs6475509;rs61596122	74	P05014	IFNA4_HUMAN	T	74	ENSP00000412897:A74T	ENSP00000412897:A74T	A	-	1	0	IFNA4	21177311	0.006000	0.16342	0.116000	0.21606	0.056000	0.15407	0.193000	0.17116	0.132000	0.18615	-0.329000	0.08387	GCT	IFNA4	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000236637		0.507	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA4	HGNC	protein_coding	OTTHUMT00000051889.1	91	0.00	0	C	NM_021068		21187311	21187311	-1	no_errors	ENST00000421715	ensembl	human	known	69_37n	missense	0	100.00	125	SNP	0.072	T
IGHV3-53	28420	genome.wustl.edu	37	14	107048767	107048767	+	RNA	SNP	G	G	T	rs200617568		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:107048767G>T	ENST00000390627.2	-	0	473									immunoglobulin heavy variable 3-53																		ATGGTGAATCGGCCCTTCACG	0.542																																						dbGAP											0													141.0	165.0	157.0					14																	107048767		2174	4286	6460	-	-	-			0			M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048767G>T				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R85	ENST00000390627.2	37	c.253		14																																																																																			IGHV3-53	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211967		0.542	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-53	HGNC	IG_V_gene	OTTHUMT00000324612.1	120	0.83	1	G	NG_001019		107048767	107048767	-1	no_stop_codon	ENST00000390627	ensembl	human	known	69_37n	silent	96	25.00	32	SNP	0.056	T
IGKV1-12	28940	genome.wustl.edu	37	2	89339813	89339813	+	RNA	SNP	T	T	C	rs544599710	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:89339813T>C	ENST00000480492.1	-	0	305									immunoglobulin kappa variable 1-12																		CCAGATCCACTGCCGCTGAAC	0.507													N|||	21	0.00419329	0.0	0.0	5008	,	,		16168	0.002		0.0	False		,,,				2504	0.0194					dbGAP											0													70.0	56.0	60.0					2																	89339813		1791	3960	5751	-	-	-			0			V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89339813T>C				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S87G	ENST00000480492.1	37	c.259		2																																																																																			IGKV1-12	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000243290		0.507	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1-12	HGNC	IG_V_gene	OTTHUMT00000323392.1	28	0.00	0	T	NG_000834		89339813	89339813	-1	no_stop_codon	ENST00000480492	ensembl	human	known	69_37n	missense	156	34.18	81	SNP	1.000	C
IGSF10	285313	genome.wustl.edu	37	3	151176331	151176331	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:151176331G>A	ENST00000282466.3	-	1	166	c.167C>T	c.(166-168)cCg>cTg	p.P56L		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	56	LRRNT.				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)			CACATTGGGCGGGATGCTGTC	0.537																																						dbGAP											0													129.0	105.0	113.0					3																	151176331		2203	4300	6503	-	-	-	SO:0001583	missense	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.167C>T	3.37:g.151176331G>A	ENSP00000282466:p.Pro56Leu		Q86YJ9|Q8N772|Q8NA84	Missense_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.P56L	ENST00000282466.3	37	c.167	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006675	0.35415	.	.	ENSG00000152580	ENST00000282466	T	0.44482	0.92	5.32	5.32	0.75619	Leucine-rich repeat-containing N-terminal (1);	0.159664	0.29348	N	0.012406	T	0.60090	0.2242	M	0.92367	3.3	0.42558	D	0.993136	D	0.63880	0.993	P	0.47786	0.557	T	0.72909	-0.4149	10	0.87932	D	0	.	13.5722	0.61853	0.0:0.0:0.8443:0.1557	.	56	Q6WRI0	IGS10_HUMAN	L	56	ENSP00000282466:P56L	ENSP00000282466:P56L	P	-	2	0	IGSF10	152659021	0.998000	0.40836	0.048000	0.18961	0.014000	0.08584	2.661000	0.46758	2.502000	0.84385	0.650000	0.86243	CCG	IGSF10	-	smart_LRR-contain_N	ENSG00000152580		0.537	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	45	0.00	0	G	NM_178822		151176331	151176331	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	33	57.14	44	SNP	0.886	A
IKZF5	64376	genome.wustl.edu	37	10	124753899	124753899	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:124753899G>A	ENST00000368886.5	-	5	977	c.657C>T	c.(655-657)atC>atT	p.I219I	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	219					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)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGATATTTGGGATTTCGTGGG	0.453																																						dbGAP											0													239.0	231.0	234.0					10																	124753899		1967	4147	6114	-	-	-	SO:0001819	synonymous_variant	0			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.657C>T	10.37:g.124753899G>A			B3KVH7|D3DRE7|Q9H2T0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I219	ENST00000368886.5	37	c.657	CCDS41574.1	10																																																																																			IKZF5	-	NULL	ENSG00000095574		0.453	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	263	0.00	0	G	NM_022466		124753899	124753899	-1	no_errors	ENST00000368886	ensembl	human	known	69_37n	silent	219	23.88	69	SNP	1.000	A
INTS8	55656	genome.wustl.edu	37	8	95869095	95869095	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:95869095A>G	ENST00000523731.1	+	15	1976	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.M615V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	615					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GCTGAATGAGATGTTGCTTTT	0.468																																						dbGAP											0													165.0	153.0	157.0					8																	95869095		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1843A>G	8.37:g.95869095A>G	ENSP00000430338:p.Met615Val		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.M615V	ENST00000523731.1	37	c.1843	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095866	0.36952	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.51	4.32	0.51571	.	0.152774	0.64402	D	0.000001	T	0.56156	0.1966	L	0.54323	1.7	0.50467	D	0.999872	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.51076	-0.8751	9	0.33141	T	0.24	-1.2633	12.7288	0.57187	0.8626:0.1374:0.0:0.0	.	615;615	Q75QN2;Q75QN2-2	INT8_HUMAN;.	V	615	.	ENSP00000343274:M615V	M	+	1	0	INTS8	95938271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.671000	0.68095	0.983000	0.38602	0.533000	0.62120	ATG	INTS8	-	NULL	ENSG00000164941		0.468	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	78	0.00	0	A	NM_017864		95869095	95869095	+1	no_errors	ENST00000523731	ensembl	human	known	69_37n	missense	148	20.43	38	SNP	1.000	G
IST1	9798	genome.wustl.edu	37	16	71956529	71956529	+	Silent	SNP	C	C	T	rs28701631	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000538850.1_Silent_p.P87P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Silent_p.P248P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Silent_p.P235P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000378798.5_Silent_p.P235P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186					dbGAP											0													101.0	73.0	83.0					16																	71956529		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T			A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	pfam_DUF292_euk	p.P248	ENST00000378799.6	37	c.744	CCDS59272.1	16	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA	IST1	-	NULL	ENSG00000182149		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IST1	HGNC	protein_coding	OTTHUMT00000269005.2	57	0.00	0	C	NM_014761		71956529	71956529	+1	no_errors	ENST00000535424	ensembl	human	known	69_37n	silent	53	19.70	13	SNP	0.997	T
ITGA7	3679	genome.wustl.edu	37	12	56079048	56079048	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:56079048G>A	ENST00000555728.1	-	26	3368	c.3340C>T	c.(3340-3342)Cac>Tac	p.H1114Y	ITGA7_ENST00000257880.7_Silent_p.S1151S|ITGA7_ENST00000452168.2_Missense_Mutation_p.H977Y|ITGA7_ENST00000553804.1_Missense_Mutation_p.H1074Y|ITGA7_ENST00000394230.2_Silent_p.S1111S|ITGA7_ENST00000347027.6_Missense_Mutation_p.H1064Y|ITGA7_ENST00000257879.6_Missense_Mutation_p.H1070Y|ITGA7_ENST00000394229.2_Silent_p.S1107S			Q13683	ITA7_HUMAN	integrin, alpha 7	1114					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCTCGGGGTGCTTCGCCCGT	0.597																																						dbGAP											0													75.0	67.0	70.0					12																	56079048		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3340C>T	12.37:g.56079048G>A	ENSP00000452387:p.His1114Tyr		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.H1114Y	ENST00000555728.1	37	c.3340		12	.	.	.	.	.	.	.	.	.	.	G	4.067	0.010335	0.07912	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.12	1.64	0.23874	.	2.185110	0.01835	N	0.034952	T	0.13927	0.0337	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.12941	-1.0528	10	0.23891	T	0.37	.	7.1431	0.25566	0.4208:0.0:0.5792:0.0	.	977;1114;1074;1133	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Y	1074;1070;1064;977;1114	ENSP00000452120:H1074Y;ENSP00000257879:H1070Y;ENSP00000343009:H1064Y;ENSP00000393844:H977Y;ENSP00000452387:H1114Y	ENSP00000257879:H1070Y	H	-	1	0	ITGA7	54365315	0.938000	0.31826	1.000000	0.80357	0.985000	0.73830	1.059000	0.30517	0.330000	0.23485	-0.378000	0.06908	CAC	ITGA7	-	NULL	ENSG00000135424		0.597	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	15	0.00	0	G	NM_002206		56079048	56079048	-1	no_errors	ENST00000555728	ensembl	human	known	69_37n	missense	18	58.14	25	SNP	1.000	A
ITGA7	3679	genome.wustl.edu	37	12	56092319	56092319	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:56092319C>T	ENST00000555728.1	-	8	1200	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	ITGA7_ENST00000257880.7_Missense_Mutation_p.R391H|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351H|ITGA7_ENST00000347027.6_Missense_Mutation_p.R347H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347H|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347H			Q13683	ITA7_HUMAN	integrin, alpha 7	391					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCTTCTTGGCGCTCAAAGAA	0.612																																						dbGAP											0													58.0	64.0	62.0					12																	56092319		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1172G>A	12.37:g.56092319C>T	ENSP00000452387:p.Arg391His		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R391H	ENST00000555728.1	37	c.1172		12	.	.	.	.	.	.	.	.	.	.	C	32	5.185296	0.94885	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	M	0.69248	2.105	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.77557	0.961;0.953;0.961;0.99	T	0.82422	-0.0465	10	0.87932	D	0	.	16.0142	0.80425	0.0:1.0:0.0:0.0	.	254;391;351;410	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	351;347;347;254;391;351;347;391;391	ENSP00000452120:R351H;ENSP00000257879:R347H;ENSP00000343009:R347H;ENSP00000393844:R254H;ENSP00000257880:R391H;ENSP00000377777:R351H;ENSP00000377776:R347H;ENSP00000452387:R391H	ENSP00000257879:R347H	R	-	2	0	ITGA7	54378586	0.599000	0.26891	1.000000	0.80357	0.996000	0.88848	4.009000	0.57110	2.456000	0.83038	0.561000	0.74099	CGC	ITGA7	-	pfam_FG-GAP,smart_Int_alpha_beta-p	ENSG00000135424		0.612	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	27	0.00	0	C	NM_002206		56092319	56092319	-1	no_errors	ENST00000555728	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	1.000	T
ITGAD	3681	genome.wustl.edu	37	16	31437373	31437373	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:31437373A>T	ENST00000389202.2	+	30	3459	c.3410A>T	c.(3409-3411)gAg>gTg	p.E1137V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1137					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAAATGCTGGAGGACAAGCCT	0.483																																						dbGAP											0													150.0	116.0	127.0					16																	31437373		2197	4300	6497	-	-	-	SO:0001583	missense	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3410A>T	16.37:g.31437373A>T	ENSP00000373854:p.Glu1137Val		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E1137V	ENST00000389202.2	37	c.3410	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	A	11.13	1.546682	0.27652	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	D	0.85702	-2.02	5.19	-4.84	0.03151	Integrin alpha chain, C-terminal cytoplasmic region, conserved site (1);	.	.	.	.	T	0.74222	0.3688	L	0.45581	1.43	0.09310	N	1	B;B	0.23249	0.082;0.046	B;B	0.22152	0.038;0.038	T	0.59974	-0.7353	9	0.56958	D	0.05	.	1.5612	0.02595	0.32:0.2546:0.3011:0.1243	.	1153;1137	Q59H14;Q13349	.;ITAD_HUMAN	V	1153;1137	ENSP00000373854:E1137V	ENSP00000373854:E1137V	E	+	2	0	ITGAD	31344874	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.899000	0.04101	-1.226000	0.02574	-1.467000	0.01014	GAG	ITGAD	-	pfam_Integrin_alpha_C_CS	ENSG00000156886		0.483	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	239	0.00	0	A	NM_005353		31437373	31437373	+1	no_errors	ENST00000389202	ensembl	human	known	69_37n	missense	83	36.36	48	SNP	0.000	T
ITPK1	3705	genome.wustl.edu	37	14	93412768	93412768	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:93412768C>A	ENST00000267615.6	-	10	982	c.809G>T	c.(808-810)cGg>cTg	p.R270L	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.R270L|ITPK1_ENST00000555495.1_Missense_Mutation_p.R151L|ITPK1_ENST00000556603.2_Missense_Mutation_p.R270L			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	270	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CAGTGCCTGCCGCAGGGCCCG	0.607																																						dbGAP											0													92.0	85.0	87.0					14																	93412768		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.809G>T	14.37:g.93412768C>A	ENSP00000267615:p.Arg270Leu		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	pfam_Inositol_tetrakis-P_1-kinase	p.R270L	ENST00000267615.6	37	c.809	CCDS9907.1	14	.	.	.	.	.	.	.	.	.	.	c	18.13	3.554530	0.65425	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	T	0.06218	3.33	5.25	4.37	0.52481	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.180905	0.49916	N	0.000138	T	0.24851	0.0603	M	0.87269	2.87	0.80722	D	1	B;D	0.65815	0.013;0.995	B;P	0.57371	0.011;0.819	T	0.12372	-1.0550	10	0.59425	D	0.04	-19.6748	15.4116	0.74929	0.1404:0.8596:0.0:0.0	.	270;270	Q13572;Q13572-2	ITPK1_HUMAN;.	L	270;300;270;151;270;270	ENSP00000346272:R270L	ENSP00000267615:R270L	R	-	2	0	ITPK1	92482521	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.006000	0.57083	1.231000	0.43661	-0.217000	0.12591	CGG	ITPK1	-	pfam_Inositol_tetrakis-P_1-kinase	ENSG00000100605		0.607	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	HGNC	protein_coding	OTTHUMT00000412421.2	30	0.00	0	C	NM_014216		93412768	93412768	-1	no_errors	ENST00000267615	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	1.000	A
KCND2	3751	genome.wustl.edu	37	7	120386054	120386054	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:120386054G>A	ENST00000331113.4	+	5	2653	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	563					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGATCAGATGTGTGGAGAGA	0.448																																						dbGAP											0													106.0	84.0	92.0					7																	120386054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1688G>A	7.37:g.120386054G>A	ENSP00000333496:p.Cys563Tyr		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,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_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.C563Y	ENST00000331113.4	37	c.1688	CCDS5776.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.735865|3.735865	0.69189|0.69189	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000331113|ENST00000425288	D|.	0.96774|.	-4.12|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.132406|.	0.56097|.	D|.	0.000029|.	T|T	0.59169|0.59169	0.2174|0.2174	L|L	0.27053|0.27053	0.805|0.805	0.44447|0.44447	D|D	0.997378|0.997378	B|.	0.34103|.	0.437|.	B|.	0.31495|.	0.131|.	T|T	0.49908|0.49908	-0.8889|-0.8889	9|5	.|.	.|.	.|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	563|.	Q9NZV8|.	KCND2_HUMAN|.	Y|M	563|149	ENSP00000333496:C563Y|.	.|.	C|V	+|+	2|1	0|0	KCND2|KCND2	120173290|120173290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.374000|5.374000	0.66167|0.66167	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	TGT|GTG	KCND2	-	prints_K_chnl_volt-dep_Kv4.2	ENSG00000184408		0.448	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	8	0.00	0	G	NM_012281		120386054	120386054	+1	no_errors	ENST00000331113	ensembl	human	known	69_37n	missense	33	48.48	32	SNP	1.000	A
KCNK17	89822	genome.wustl.edu	37	6	39278695	39278697	+	In_Frame_Del	DEL	AAG	AAG	-	rs540653476	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:39278695_39278697delAAG	ENST00000373231.4	-	2	556_558	c.324_326delCTT	c.(322-327)ttcttt>ttt	p.108_109FF>F	KCNK17_ENST00000453413.2_In_Frame_Del_p.108_109FF>F	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	108					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GGACACAGAAAAGAAGAAGGAGC	0.606														16	0.00319489	0.0	0.0014	5008	,	,		10209	0.0		0.002	False		,,,				2504	0.0133					dbGAP											0									,	9,4255		2,5,2125					,	-5.1	0.9			87	65,8189		3,59,4065	no	coding,coding	KCNK17	NM_031460.3,NM_001135111.1	,	5,64,6190	A1A1,A1R,RR		0.7875,0.2111,0.5911	,	,		74,12444				-	-	-	SO:0001651	inframe_deletion	0			AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.324_326delCTT	6.37:g.39278701_39278703delAAG	ENSP00000362328:p.Phe109del		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	In_Frame_Del	DEL	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.F109in_frame_del	ENST00000373231.4	37	c.326_324	CCDS4842.1	6																																																																																			KCNK17	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000124780		0.606	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK17	HGNC	protein_coding	OTTHUMT00000040453.2	20	0.00	0	AAG	NM_031460		39278695	39278697	-1	no_errors	ENST00000373231	ensembl	human	known	69_37n	in_frame_del	11	50.00	12	DEL	1.000:1.000:1.000	-
KIAA1109	84162	genome.wustl.edu	37	4	123176437	123176437	+	Splice_Site	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:123176437T>C	ENST00000264501.4	+	40	6750	c.6377T>C	c.(6376-6378)aTg>aCg	p.M2126T	KIAA1109_ENST00000388738.3_Splice_Site_p.M2126T|KIAA1109_ENST00000455637.1_Splice_Site_p.M2126T			Q2LD37	K1109_HUMAN	KIAA1109	2126					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						GATGCTACAATGGTAAGTTAC	0.373																																						dbGAP											0													120.0	113.0	115.0					4																	123176437		1882	4110	5992	-	-	-	SO:0001630	splice_region_variant	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.6378+1T>C	4.37:g.123176437T>C			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.M2126T	ENST00000264501.4	37	c.6377	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.48|14.48	2.548486|2.548486	0.45383|0.45383	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.28255|.	2.56;2.56;1.62|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.64402|.	U|.	0.000014|.	T|.	0.51329|.	0.1668|.	N|N	0.19112|0.19112	0.55|0.55	0.44771|0.44771	D|D	0.997776|0.997776	B;B;B|.	0.12013|.	0.001;0.005;0.002|.	B;B;B|.	0.16289|.	0.003;0.015;0.004|.	T|.	0.48692|.	-0.9013|.	10|.	0.41790|.	T|.	0.15|.	.|.	15.6349|15.6349	0.76944|0.76944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2126;2125;2126|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	T|R	2126|699	ENSP00000264501:M2126T;ENSP00000373390:M2126T;ENSP00000389925:M2126T|.	ENSP00000264501:M2126T|.	M|X	+|+	2|1	0|0	KIAA1109|KIAA1109	123395887|123395887	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.946000|0.946000	0.59487|0.59487	6.228000|6.228000	0.72288|0.72288	2.098000|2.098000	0.63641|0.63641	0.477000|0.477000	0.44152|0.44152	ATG|TGA	KIAA1109	-	NULL	ENSG00000138688		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	59	0.00	0	T	NM_020797	Missense_Mutation	123176437	123176437	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	82	50.30	83	SNP	1.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123268873	123268873	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:123268873C>G	ENST00000264501.4	+	76	13441	c.13068C>G	c.(13066-13068)agC>agG	p.S4356R	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4356R			Q2LD37	K1109_HUMAN	KIAA1109	4356					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						TAGGACAGAGCCTAAAATCCC	0.463																																						dbGAP											0													121.0	122.0	122.0					4																	123268873		2043	4182	6225	-	-	-	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.13068C>G	4.37:g.123268873C>G	ENSP00000264501:p.Ser4356Arg		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S4356R	ENST00000264501.4	37	c.13068	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.024913|2.024913	0.35701|0.35701	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30714	.|2.5;2.5;1.52	5.95|5.95	3.93|3.93	0.45458|0.45458	.|.	.|0.304186	.|0.41194	.|D	.|0.000926	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19817	.|0.039;0.023	.|B;B	.|0.23574	.|0.047;0.031	T|T	0.04840|0.04840	-1.0923|-1.0923	5|10	.|0.40728	.|T	.|0.16	.|.	14.0057|14.0057	0.64461|0.64461	0.0:0.8591:0.0:0.1409|0.0:0.8591:0.0:0.1409	.|.	.|4355;4356	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	G|R	732|4356;4356;1025	.|ENSP00000264501:S4356R;ENSP00000373390:S4356R;ENSP00000410874:S1025R	.|ENSP00000264501:S4356R	A|S	+|+	2|3	0|2	KIAA1109|KIAA1109	123488323|123488323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.592000|1.592000	0.36676|0.36676	1.529000|1.529000	0.49120|0.49120	0.650000|0.650000	0.86243|0.86243	GCC|AGC	KIAA1109	-	NULL	ENSG00000138688		0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	59	0.00	0	C	NM_020797		123268873	123268873	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	1.000	G
KIAA1324L	222223	genome.wustl.edu	37	7	86521169	86521169	+	Silent	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:86521169A>G	ENST00000450689.2	-	21	3086	c.2901T>C	c.(2899-2901)acT>acC	p.T967T	KIAA1324L_ENST00000297222.6_Silent_p.T727T|KIAA1324L_ENST00000444627.1_Silent_p.T896T|KIAA1324L_ENST00000416314.1_Silent_p.T800T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	967						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTTTTGAGTTAGTCGTCATTA	0.308																																						dbGAP											0													76.0	68.0	71.0					7																	86521169		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2901T>C	7.37:g.86521169A>G			A4D1C9|B4DJV3|Q17RI6|Q96DP2	Nonstop_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.*928Q	ENST00000450689.2	37	c.2782	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	A	8.643	0.896511	0.17686	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.77	-4.85	0.03142	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3376	0.02148	0.2135:0.2899:0.1192:0.3774	.	.	.	.	Q	928	.	.	X	-	1	0	KIAA1324L	86359105	0.002000	0.14202	0.095000	0.20976	0.965000	0.64279	-1.312000	0.02720	-1.052000	0.03222	0.533000	0.62120	TAA	KIAA1324L	-	NULL	ENSG00000164659		0.308	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	48	0.00	0	A	NM_152748		86521169	86521169	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000423294	ensembl	human	novel	69_37n	nonstop	136	40.35	92	SNP	0.273	G
KIAA1549	57670	genome.wustl.edu	37	7	138602974	138602974	+	Missense_Mutation	SNP	G	G	T	rs572555872	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:138602974G>T	ENST00000422774.1	-	2	1446	c.1398C>A	c.(1396-1398)agC>agA	p.S466R	KIAA1549_ENST00000440172.1_Missense_Mutation_p.S466R|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S416R			Q9HCM3	K1549_HUMAN	KIAA1549	466						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGCTACGACGCTACTCATTA	0.493			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	dbGAP		Dom	yes		7	7q34	57670	KIAA1549		O	0													44.0	44.0	44.0					7																	138602974		2048	4196	6244	-	-	-	SO:0001583	missense	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.1398C>A	7.37:g.138602974G>T	ENSP00000416040:p.Ser466Arg		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.S466R	ENST00000422774.1	37	c.1398	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785884	0.31593	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.33438	1.41;1.42;1.41	4.75	-2.39	0.06602	.	0.412742	0.23222	N	0.050543	T	0.18341	0.0440	L	0.29908	0.895	0.20703	N	0.999869	B;B	0.28128	0.127;0.201	B;B	0.30716	0.056;0.119	T	0.14117	-1.0484	10	0.51188	T	0.08	.	6.8919	0.24234	0.5907:0.1363:0.273:0.0	.	466;466	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	R	466;416;466	ENSP00000406661:S466R;ENSP00000242365:S416R;ENSP00000416040:S466R	ENSP00000242365:S416R	S	-	3	2	KIAA1549	138253514	0.014000	0.17966	0.075000	0.20258	0.002000	0.02628	-0.073000	0.11468	-0.411000	0.07530	-1.261000	0.01458	AGC	KIAA1549	-	NULL	ENSG00000122778		0.493	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	24	0.00	0	G			138602974	138602974	-1	no_errors	ENST00000422774	ensembl	human	known	69_37n	missense	10	66.67	20	SNP	0.020	T
KIF16B	55614	genome.wustl.edu	37	20	16492131	16492131	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:16492131C>T	ENST00000354981.2	-	6	645	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	KIF16B_ENST00000408042.1_Missense_Mutation_p.R163Q|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R163Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	163	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)	p.R163L(2)		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						TGACTTCCGCCGAAGTAGATC	0.333																																						dbGAP											2	Substitution - Missense(2)	lung(2)											79.0	77.0	78.0					20																	16492131		2203	4300	6503	-	-	-	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.488G>A	20.37:g.16492131C>T	ENSP00000347076:p.Arg163Gln		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.R163Q	ENST00000354981.2	37	c.488	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.369202	0.95900	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74526	-0.85;-0.85;-0.85	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.978;0.978;0.983;0.99	T	0.82583	-0.0385	10	0.66056	D	0.02	.	17.8742	0.88819	0.0:1.0:0.0:0.0	.	163;163;163;163	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	Q	163	ENSP00000347076:R163Q;ENSP00000347995:R163Q;ENSP00000384164:R163Q	ENSP00000347076:R163Q	R	-	2	0	KIF16B	16440131	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.780000	0.68956	2.665000	0.90641	0.655000	0.94253	CGG	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.333	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	35	0.00	0	C	NM_017683		16492131	16492131	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	83	55.14	102	SNP	1.000	T
KIF6	221458	genome.wustl.edu	37	6	39512313	39512313	+	Intron	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:39512313T>A	ENST00000287152.7	-	12	1521				KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000538893.1_Missense_Mutation_p.M482L|KIF6_ENST00000373213.4_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGTTTCTTCATCACTTCAGAA	0.413																																						dbGAP											0													132.0	123.0	126.0					6																	39512313		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1426+17A>T	6.37:g.39512313T>A			Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M482L	ENST00000287152.7	37	c.1444	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	T	0.746	-0.774583	0.02951	.	.	ENSG00000164627	ENST00000538893	T	0.39592	1.07	5.4	-6.7	0.01766	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	8	0.09590	T	0.72	.	9.4436	0.38684	0.0:0.5184:0.2883:0.1933	.	482	F6VGH2	.	L	482	ENSP00000441435:M482L	ENSP00000441435:M482L	M	-	1	0	KIF6	39620291	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.675000	0.00841	-0.804000	0.04410	-0.256000	0.11100	ATG	KIF6	-	NULL	ENSG00000164627		0.413	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	136	0.00	0	T	NM_145027		39512313	39512313	-1	no_errors	ENST00000538893	ensembl	human	known	69_37n	missense	182	48.30	170	SNP	0.000	A
KIF7	374654	genome.wustl.edu	37	15	90196008	90196008	+	Missense_Mutation	SNP	C	C	T	rs8179065	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:90196008C>T	ENST00000394412.3	-	2	230	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	52	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.		D -> N (in dbSNP:rs8179065).		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)			AAGTGTCGGTCACGGCCCAGA	0.672													C|||	1214	0.242412	0.0507	0.2651	5008	,	,		17437	0.4117		0.2614	False		,,,				2504	0.2914					dbGAP											0													46.0	53.0	51.0					15																	90196008		689	1590	2279	-	-	-	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.154G>A	15.37:g.90196008C>T	ENSP00000377934:p.Asp52Asn		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D52N	ENST00000394412.3	37	c.154	CCDS32325.2	15	516	0.23626373626373626	30	0.06097560975609756	85	0.23480662983425415	205	0.3583916083916084	196	0.25857519788918204	C	13.49	2.253446	0.39797	.	.	ENSG00000166813	ENST00000394412	T	0.74947	-0.89	4.66	2.35	0.29111	Kinesin, motor domain (4);	.	.	.	.	T	0.00012	0.0000	L	0.28344	0.845	0.29058	P	0.884112	B	0.15719	0.014	B	0.16289	0.015	T	0.14643	-1.0465	8	0.62326	D	0.03	.	4.3016	0.10927	0.0:0.4722:0.1771:0.3507	rs8179065	52	Q2M1P5	KIF7_HUMAN	N	52	ENSP00000377934:D52N	ENSP00000377934:D52N	D	-	1	0	KIF7	87997012	0.117000	0.22190	0.763000	0.31416	0.798000	0.45092	0.710000	0.25748	0.942000	0.37525	0.655000	0.94253	GAC	KIF7	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000166813		0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	35	0.00	0	C	NM_198525		90196008	90196008	-1	no_errors	ENST00000394412	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.559	T
KLK1	3816	genome.wustl.edu	37	19	51323212	51323212	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:51323212C>T	ENST00000301420.2	-	4	611	c.576G>A	c.(574-576)aaG>aaA	p.K192K	KLK1_ENST00000448701.2_Silent_p.K90K|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	192	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)	AGTCTGTCACCTTCTGGACGT	0.547																																						dbGAP											0													102.0	81.0	88.0					19																	51323212		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.576G>A	19.37:g.51323212C>T			Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K192	ENST00000301420.2	37	c.576	CCDS12804.1	19																																																																																			KLK1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167748		0.547	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	HGNC	protein_coding	OTTHUMT00000464135.2	96	0.00	0	C	NM_002257		51323212	51323212	-1	no_errors	ENST00000301420	ensembl	human	known	69_37n	silent	31	46.55	27	SNP	0.917	T
KRT35	3886	genome.wustl.edu	37	17	39637292	39637292	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:39637292C>T	ENST00000393989.1	-	1	100	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	20	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCACTGGCCCCTCCTGGGCTC	0.582																																						dbGAP											0													45.0	52.0	50.0					17																	39637292		1883	4120	6003	-	-	-	SO:0001583	missense	0			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.58G>A	17.37:g.39637292C>T	ENSP00000377558:p.Gly20Arg		O76012|Q92651	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G20R	ENST00000393989.1	37	c.58	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	C	8.933	0.963983	0.18583	.	.	ENSG00000197079	ENST00000393989	D	0.82711	-1.64	5.04	-0.327	0.12694	.	.	.	.	.	T	0.69575	0.3126	L	0.40543	1.245	0.09310	N	1	P	0.43352	0.804	B	0.36534	0.227	T	0.57341	-0.7828	9	0.12766	T	0.61	.	8.8039	0.34925	0.0:0.6114:0.0:0.3886	.	20	Q92764	KRT35_HUMAN	R	20	ENSP00000377558:G20R	ENSP00000377558:G20R	G	-	1	0	KRT35	36890818	0.007000	0.16637	0.000000	0.03702	0.840000	0.47671	1.337000	0.33862	-0.155000	0.11098	0.563000	0.77884	GGG	KRT35	-	NULL	ENSG00000197079		0.582	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		12	0.00	0	C	NM_002280		39637292	39637292	-1	no_errors	ENST00000393989	ensembl	human	known	69_37n	missense	13	53.57	15	SNP	0.000	T
KRT5	3852	genome.wustl.edu	37	12	52912906	52912906	+	Silent	SNP	G	G	T	rs641621	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:52912906G>T	ENST00000252242.4	-	2	984	c.594C>A	c.(592-594)acC>acA	p.T198T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	198	Coil 1A.|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)		GGGTCCACTTGGTGTCCAGAA	0.537													G|||	1077	0.215056	0.1089	0.2233	5008	,	,		19699	0.3393		0.2823	False		,,,				2504	0.1554					dbGAP											0													59.0	52.0	55.0					12																	52912906		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	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.594C>A	12.37:g.52912906G>T			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T198	ENST00000252242.4	37	c.594	CCDS8830.1	12																																																																																			KRT5	-	pfam_F,prints_Keratin_II	ENSG00000186081		0.537	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	55	0.00	0	G			52912906	52912906	-1	no_errors	ENST00000252242	ensembl	human	known	69_37n	silent	0	100.00	85	SNP	1.000	T
KRT5	3852	genome.wustl.edu	37	12	52912909	52912909	+	Missense_Mutation	SNP	G	G	T	rs641615	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:52912909G>T	ENST00000252242.4	-	2	981	c.591C>A	c.(589-591)gaC>gaA	p.D197E		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	197	Coil 1A.|Rod.		D -> E (in dbSNP:rs641615). {ECO:0000269|PubMed:2447486, ECO:0000269|PubMed:2476664}.		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)		TCCACTTGGTGTCCAGAACCT	0.532													G|||	1077	0.215056	0.1089	0.2233	5008	,	,		19702	0.3393		0.2823	False		,,,				2504	0.1554					dbGAP											0													58.0	51.0	54.0					12																	52912909		2202	4296	6498	-	-	-	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.591C>A	12.37:g.52912909G>T	ENSP00000252242:p.Asp197Glu		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.D197E	ENST00000252242.4	37	c.591	CCDS8830.1	12	555	0.2541208791208791	58	0.11788617886178862	91	0.2513812154696133	199	0.3479020979020979	207	0.27308707124010556	G	5.448	0.267812	0.10349	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420	T;T	0.72282	-0.64;-0.64	5.31	2.41	0.29592	Filament (1);	0.000000	0.64402	D	0.000015	T	0.00012	0.0000	N	0.00001	-3.76	0.38288	P	0.05736600000000003	B	0.18741	0.03	B	0.15052	0.012	T	0.46105	-0.9215	9	0.02654	T	1	.	7.4373	0.27162	0.0684:0.3532:0.4752:0.1032	rs641615;rs1042272;rs3176960;rs3181708;rs17400360;rs59010565	197	P13647	K2C5_HUMAN	E	197;162;87	ENSP00000252242:D197E;ENSP00000447209:D87E	ENSP00000252242:D197E	D	-	3	2	KRT5	51199176	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.484000	0.22308	0.792000	0.33850	0.655000	0.94253	GAC	KRT5	-	pfam_F,prints_Keratin_II	ENSG00000186081		0.532	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	56	0.00	0	G			52912909	52912909	-1	no_errors	ENST00000252242	ensembl	human	known	69_37n	missense	0	100.00	82	SNP	1.000	T
KRTAP16-1	100505753	genome.wustl.edu	37	17	39464487	39464487	+	Missense_Mutation	SNP	G	G	C	rs2074285	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:39464487G>C	ENST00000391352.1	-	1	1018	c.1019C>G	c.(1018-1020)cCt>cGt	p.P340R		NM_001146182.1	NP_001139654.1	A8MUX0	KR161_HUMAN	keratin associated protein 16-1	340						keratin filament (GO:0045095)				haematopoietic_and_lymphoid_tissue(1)	1						GCAGACAGAAGGACAGCGCTT	0.567													C|||	1899	0.379193	0.6135	0.2435	5008	,	,		22005	0.3968		0.2992	False		,,,				2504	0.2229					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AP001708	CCDS56032.1	17q21.2	2012-07-04			ENSG00000212657	ENSG00000212657		"""Keratin associated proteins"""	18916	protein-coding gene	gene with protein product							Standard	NM_001146182		Approved	KAP16.1	uc021txi.1	A8MUX0	OTTHUMG00000133640	ENST00000391352.1:c.1019C>G	17.37:g.39464487G>C	ENSP00000375147:p.Pro340Arg			Missense_Mutation	SNP	NULL	p.P340R	ENST00000391352.1	37	c.1019	CCDS56032.1	17	833	0.3814102564102564	290	0.5894308943089431	99	0.27348066298342544	216	0.3776223776223776	228	0.3007915567282322	C	0.001	-2.912640	0.00056	.	.	ENSG00000212657	ENST00000391352	T	0.00646	6.0	5.26	-3.19	0.05171	.	.	.	.	.	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	.	.	.	.	.	.	T	0.02214	-1.1194	6	0.14656	T	0.56	.	7.4869	0.27439	0.0:0.2194:0.1205:0.66	rs2074285;rs2074285	.	.	.	R	340	ENSP00000375147:P340R	ENSP00000375147:P340R	P	-	2	0	KRTAP16-1	36718013	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	-1.700000	0.01905	-0.730000	0.04869	-0.322000	0.08575	CCT	KRTAP16-1	-	NULL	ENSG00000212657		0.567	KRTAP16-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP16-1	HGNC	protein_coding	OTTHUMT00000257785.1	12	0.00	0	G	NM_001146182		39464487	39464487	-1	no_errors	ENST00000391352	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.007	C
KRTAP17-1	83902	genome.wustl.edu	37	17	39471778	39471778	+	Missense_Mutation	SNP	C	C	T	rs78413710|rs386797077	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:39471778C>T	ENST00000334202.3	-	1	169	c.125G>A	c.(124-126)gGc>gAc	p.G42D		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	42						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcccccgcagccagagccccc	0.687													C|||	941	0.187899	0.1354	0.1354	5008	,	,		9853	0.3165		0.1809	False		,,,				2504	0.1708					dbGAP											0													10.0	13.0	12.0					17																	39471778		2170	4250	6420	-	-	-	SO:0001583	missense	0			AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.125G>A	17.37:g.39471778C>T	ENSP00000333993:p.Gly42Asp			Missense_Mutation	SNP	NULL	p.G42D	ENST00000334202.3	37	c.125	CCDS11387.1	17	399	0.18269230769230768	62	0.12601626016260162	49	0.13535911602209943	159	0.27797202797202797	129	0.17018469656992086	C	5.391	0.257268	0.10239	.	.	ENSG00000186860	ENST00000334202	.	.	.	4.26	3.29	0.37713	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.46586	P	8.879999999999999E-4	B	0.15930	0.015	B	0.17433	0.018	T	0.15809	-1.0424	7	0.87932	D	0	-10.805	7.6767	0.28490	0.0:0.8845:0.0:0.1155	.	42	Q9BYP8	KR171_HUMAN	D	42	.	ENSP00000333993:G42D	G	-	2	0	KRTAP17-1	36725304	0.664000	0.27457	0.310000	0.25168	0.312000	0.27988	1.496000	0.35638	1.004000	0.39156	0.462000	0.41574	GGC	KRTAP17-1	-	NULL	ENSG00000186860		0.687	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP17-1	HGNC	protein_coding	OTTHUMT00000257296.1	25	0.00	0	C			39471778	39471778	-1	no_errors	ENST00000334202	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.643	T
LAMC1	3915	genome.wustl.edu	37	1	183091057	183091057	+	Silent	SNP	C	C	T	rs140930364	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:183091057C>T	ENST00000258341.4	+	12	2447	c.2190C>T	c.(2188-2190)agC>agT	p.S730S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	730	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ATGGACACAGCGAGACCTGTG	0.453													C|||	9	0.00179712	0.0	0.0	5008	,	,		23577	0.0089		0.0	False		,,,				2504	0.0					dbGAP											0													117.0	105.0	109.0					1																	183091057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2190C>T	1.37:g.183091057C>T			Q5VYE7	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S730	ENST00000258341.4	37	c.2190	CCDS1351.1	1																																																																																			LAMC1	-	pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000135862		0.453	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	84	0.00	0	C	NM_002293		183091057	183091057	+1	no_errors	ENST00000258341	ensembl	human	known	69_37n	silent	76	50.33	77	SNP	0.991	T
LGSN	51557	genome.wustl.edu	37	6	63990201	63990201	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:63990201C>T	ENST00000370657.4	-	4	1288	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	419					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAGCCAGCACCAAGTAAGGG	0.448																																						dbGAP											0													75.0	77.0	76.0					6																	63990201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1255G>A	6.37:g.63990201C>T	ENSP00000359691:p.Val419Met		A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.V419M	ENST00000370657.4	37	c.1255	CCDS4964.1	6	.	.	.	.	.	.	.	.	.	.	c	13.92	2.381794	0.42207	.	.	ENSG00000146166	ENST00000370657	D	0.87179	-2.22	5.96	4.2	0.49525	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.158958	0.56097	N	0.000033	D	0.90728	0.7090	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91610	0.5302	10	0.87932	D	0	-11.6951	11.9232	0.52803	0.0:0.8611:0.0:0.1389	.	419	Q5TDP6	LGSN_HUMAN	M	419	ENSP00000359691:V419M	ENSP00000359691:V419M	V	-	1	0	LGSN	64048160	1.000000	0.71417	0.998000	0.56505	0.163000	0.22366	4.696000	0.61774	0.875000	0.35847	-0.119000	0.15052	GTG	LGSN	-	pfam_Gln_synth_cat_dom	ENSG00000146166		0.448	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	49	0.00	0	C	NM_016571		63990201	63990201	-1	no_errors	ENST00000370657	ensembl	human	known	69_37n	missense	60	42.31	44	SNP	1.000	T
LILRB3	11025	genome.wustl.edu	37	19	54721253	54721253	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:54721253G>A	ENST00000391750.1	-	13	1820	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	LILRB3_ENST00000346401.6_Silent_p.L574L|LILRA6_ENST00000270464.5_Silent_p.L563L|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.L563L|LILRB3_ENST00000424807.1_Silent_p.L562L|LILRB3_ENST00000407860.2_Silent_p.L579L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.L563L|LILRA6_ENST00000440558.2_Silent_p.L562L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	562					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)		TCCCCAGACAGTGAGGAGGGA	0.592																																						dbGAP											0													104.0	106.0	105.0					19																	54721253		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	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.1684C>T	19.37:g.54721253G>A			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L579	ENST00000391750.1	37	c.1735	CCDS33105.1	19																																																																																			LILRB3	-	NULL	ENSG00000204577		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	167	0.00	0	G	NM_006864		54721253	54721253	-1	no_errors	ENST00000407860	ensembl	human	known	69_37n	silent	71	52.00	78	SNP	0.000	A
LILRB5	10990	genome.wustl.edu	37	19	54754934	54754934	+	Intron	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:54754934A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Silent_p.S567S|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATTCCCCAGACAGTGGGG	0.592																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-138T>C	19.37:g.54754934A>G			Q8N760	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S567	ENST00000316219.5	37	c.1701	CCDS12885.1	19																																																																																			LILRB5	-	NULL	ENSG00000105609		0.592	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	69	0.00	0	A			54754934	54754934	-1	no_errors	ENST00000450632	ensembl	human	known	69_37n	silent	79	22.55	23	SNP	0.000	G
LILRB5	10990	genome.wustl.edu	37	19	54755021	54755021	+	Intron	SNP	G	G	A	rs202197225	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:54755021G>A	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Silent_p.H538H|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCTTCATCGTGTGGGCTCT	0.582													.|||	23	0.00459265	0.0	0.0072	5008	,	,		12966	0.0		0.0149	False		,,,				2504	0.0031					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-225C>T	19.37:g.54755021G>A			Q8N760	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H538	ENST00000316219.5	37	c.1614	CCDS12885.1	19																																																																																			LILRB5	-	NULL	ENSG00000105609		0.582	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	28	0.00	0	G			54755021	54755021	-1	no_errors	ENST00000450632	ensembl	human	known	69_37n	silent	44	31.25	20	SNP	0.000	A
LIMA1	51474	genome.wustl.edu	37	12	50571195	50571195	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:50571195C>G	ENST00000341247.4	-	11	2081	c.1932G>C	c.(1930-1932)aaG>aaC	p.K644N	LIMA1_ENST00000552909.1_Missense_Mutation_p.K483N|LIMA1_ENST00000552491.1_Missense_Mutation_p.K341N|LIMA1_ENST00000552783.1_Missense_Mutation_p.K485N|LIMA1_ENST00000394943.3_Missense_Mutation_p.K645N|LIMA1_ENST00000547825.1_Missense_Mutation_p.K342N|LIMA1_ENST00000552823.1_Missense_Mutation_p.K484N	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	644					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						CATTCCCATTCTTCTTAGAAG	0.443																																						dbGAP											0													288.0	295.0	292.0					12																	50571195		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.1932G>C	12.37:g.50571195C>G	ENSP00000340184:p.Lys644Asn		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K645N	ENST00000341247.4	37	c.1935	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003854	0.35320	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.84873	-1.17;-1.17;-1.5;-1.91;-1.17;-1.5;-1.5	5.84	4.03	0.46877	.	0.577977	0.19891	N	0.103734	T	0.76564	0.4005	L	0.44542	1.39	0.26591	N	0.973207	B;B;B	0.30973	0.024;0.011;0.302	B;B;B	0.29942	0.012;0.003;0.109	T	0.64647	-0.6358	10	0.30854	T	0.27	.	5.9573	0.19281	0.1341:0.6601:0.0:0.2058	.	654;644;483	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	N	341;342;484;645;644;485;483;563	ENSP00000448463:K341N;ENSP00000448706:K342N;ENSP00000450266:K484N;ENSP00000378400:K645N;ENSP00000340184:K644N;ENSP00000448779:K485N;ENSP00000450087:K483N	ENSP00000340184:K644N	K	-	3	2	LIMA1	48857462	0.432000	0.25554	0.950000	0.38849	0.417000	0.31264	1.299000	0.33424	0.948000	0.37687	0.650000	0.86243	AAG	LIMA1	-	NULL	ENSG00000050405		0.443	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	348	0.28	1	C	NM_016357		50571195	50571195	-1	no_errors	ENST00000394943	ensembl	human	known	69_37n	missense	301	33.11	149	SNP	0.905	G
LIMS1	3987	genome.wustl.edu	37	2	109293130	109293130	+	Silent	SNP	A	A	G	rs2438733	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:109293130A>G	ENST00000393310.1	+	7	881	c.714A>G	c.(712-714)gcA>gcG	p.A238A	LIMS1_ENST00000410093.1_Silent_p.A242A|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000544547.1_Silent_p.A250A|LIMS1_ENST00000338045.3_Silent_p.A238A|LIMS1_ENST00000332345.6_Silent_p.A238A|LIMS1_ENST00000409441.1_Silent_p.A275A|LIMS1_ENST00000542845.1_Silent_p.A300A	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	238	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						AAGGCCTGGCATATTGTGAAA	0.373																																						dbGAP											0													58.0	45.0	50.0					2																	109293130		2104	3948	6052	-	-	-	SO:0001819	synonymous_variant	0				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.714A>G	2.37:g.109293130A>G			B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.A300	ENST00000393310.1	37	c.900	CCDS2078.1	2																																																																																			LIMS1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	ENSG00000169756		0.373	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	53	0.00	0	A	NM_004987		109293130	109293130	+1	no_errors	ENST00000542845	ensembl	human	known	69_37n	silent	90	17.43	19	SNP	0.000	G
LMLN	89782	genome.wustl.edu	37	3	197765456	197765456	+	Missense_Mutation	SNP	C	C	T	rs201102192		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:197765456C>T	ENST00000330198.4	+	16	1908	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	LMLN_ENST00000420910.2_Missense_Mutation_p.S666L|LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000482695.1_Missense_Mutation_p.S614L|LMLN_ENST00000332636.5_Missense_Mutation_p.S577L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	629					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TCCTGTTCCTCGAGCCTGGTG	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18579	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													203.0	207.0	206.0					3																	197765456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1886C>T	3.37:g.197765456C>T	ENSP00000328829:p.Ser629Leu		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.S629L	ENST00000330198.4	37	c.1886	CCDS3332.1	3	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.44	2.834287	0.50951	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.51325	0.81;0.71;0.78;0.72	5.31	5.31	0.75309	.	0.146541	0.46442	D	0.000294	T	0.51601	0.1684	L	0.27053	0.805	0.45172	D	0.998186	D;D;D;D;D	0.71674	0.997;0.994;0.998;0.96;0.994	P;P;P;B;P	0.59115	0.715;0.795;0.852;0.238;0.795	T	0.43925	-0.9361	10	0.32370	T	0.25	-18.3542	16.8875	0.86079	0.0:1.0:0.0:0.0	.	629;577;666;658;614	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	L	614;629;666;577	ENSP00000418324:S614L;ENSP00000328829:S629L;ENSP00000410926:S666L;ENSP00000328611:S577L	ENSP00000328829:S629L	S	+	2	0	LMLN	199249853	1.000000	0.71417	0.998000	0.56505	0.566000	0.35808	6.361000	0.73070	2.649000	0.89929	0.650000	0.86243	TCG	LMLN	-	NULL	ENSG00000185621		0.403	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	268	0.00	0	C	NM_033029		197765456	197765456	+1	no_errors	ENST00000330198	ensembl	human	known	69_37n	missense	246	49.07	237	SNP	1.000	T
LRRC16A	55604	genome.wustl.edu	37	6	25516007	25516007	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:25516007C>T	ENST00000329474.6	+	21	2105	c.1737C>T	c.(1735-1737)agC>agT	p.S579S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	579					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)	p.S579S(1)		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						TGGACATTAGCGGCAACGGAA	0.552																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											56.0	59.0	58.0					6																	25516007		2145	4284	6429	-	-	-	SO:0001819	synonymous_variant	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.1737C>T	6.37:g.25516007C>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S579	ENST00000329474.6	37	c.1737	CCDS54973.1	6																																																																																			LRRC16A	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000079691		0.552	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	38	0.00	0	C	NM_017640		25516007	25516007	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	silent	20	47.37	18	SNP	0.996	T
LPAL2	80350	genome.wustl.edu	37	6	160898160	160898160	+	RNA	SNP	C	C	T	rs2048328	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:160898160C>T	ENST00000335388.5	-	0	1505					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAAAGACATACTCATTTGGGT	0.453													C|||	1029	0.205471	0.0628	0.1772	5008	,	,		20633	0.3492		0.1998	False		,,,				2504	0.2761					dbGAP											0																																										-	-	-			0			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160898160C>T			E1P5B4	Splice_Site	SNP	-	NULL	ENST00000335388.5	37	c.NULL		6																																																																																			LPAL2	-	-	ENSG00000213071		0.453	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1	54	0.00	0	C	NM_024492		160898160	160898160	-1	no_errors	ENST00000335388	ensembl	human	known	69_37n	splice_site	126	52.99	142	SNP	0.958	T
LRRC37B	114659	genome.wustl.edu	37	17	30372739	30372739	+	Missense_Mutation	SNP	C	C	T	rs1638299	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:30372739C>T	ENST00000341671.7	+	8	2149	c.2144C>T	c.(2143-2145)gCc>gTc	p.A715V	SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000327564.7_Missense_Mutation_p.A742V|LRRC37B_ENST00000584368.1_Missense_Mutation_p.A676V|LRRC37B_ENST00000394713.3_Missense_Mutation_p.A664V|LRRC37B_ENST00000543378.2_Missense_Mutation_p.A633V	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	715						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A715V(1)		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)				AGCCATATGGCCTGCTGCCTC	0.433																																						dbGAP											1	Substitution - Missense(1)	stomach(1)											99.0	82.0	88.0					17																	30372739		2202	4297	6499	-	-	-	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.2144C>T	17.37:g.30372739C>T	ENSP00000340519:p.Ala715Val		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A715V	ENST00000341671.7	37	c.2144	CCDS32609.1	17	277	0.12683150183150182	150	0.3048780487804878	44	0.12154696132596685	46	0.08041958041958042	37	0.048812664907651716	N	15.46	2.840171	0.51057	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.50813	0.73;0.73;0.87;0.73	1.9	-0.245	0.13027	.	.	.	.	.	T	0.00012	0.0000	M	0.74881	2.28	0.20403	N	0.999908	D;B	0.61697	0.99;0.106	P;B	0.56434	0.798;0.003	T	0.01283	-1.1396	9	0.54805	T	0.06	.	6.0128	0.19586	0.0:0.6886:0.0:0.3114	rs1638299;rs4091279;rs7208720	664;715	Q17RC9;Q96QE4	.;LR37B_HUMAN	V	633;742;664;715	ENSP00000443345:A633V;ENSP00000332536:A742V;ENSP00000378202:A664V;ENSP00000340519:A715V	ENSP00000332536:A742V	A	+	2	0	LRRC37B	27396852	0.015000	0.18098	0.648000	0.29521	0.279000	0.26890	0.127000	0.15790	-0.021000	0.14009	-0.431000	0.05894	GCC	LRRC37B	-	NULL	ENSG00000185158		0.433	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	148	0.00	0	C	NM_052888		30372739	30372739	+1	no_errors	ENST00000341671	ensembl	human	known	69_37n	missense	555	22.49	161	SNP	0.876	T
LRRC37A3	374819	genome.wustl.edu	37	17	62856783	62856783	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:62856783G>A	ENST00000584306.1	-	11	4011	c.3481C>T	c.(3481-3483)Cgg>Tgg	p.R1161W	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1161W|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R279W|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R138W|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R199W	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1161						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTCTCTGCCGGTTTTTGCCT	0.493																																						dbGAP											0													119.0	122.0	121.0					17																	62856783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3481C>T	17.37:g.62856783G>A	ENSP00000464535:p.Arg1161Trp		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R1161W	ENST00000584306.1	37	c.3481	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	6.145	0.394926	0.11638	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59502	1.46;1.46;0.26	2.46	0.307	0.15811	.	.	.	.	.	T	0.29652	0.0740	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.19160	-1.0314	9	0.66056	D	0.02	.	4.8419	0.13494	0.3287:0.0:0.6713:0.0	.	279;1161	B4DG20;O60309	.;L37A3_HUMAN	W	242;199;138;1161	ENSP00000383674:R199W;ENSP00000335617:R138W;ENSP00000325713:R1161W	ENSP00000325713:R1161W	R	-	1	2	LRRC37A3	60287245	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	0.123000	0.15708	-0.018000	0.14079	-0.736000	0.03550	CGG	LRRC37A3	-	NULL	ENSG00000176809		0.493	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	135	0.00	0	G	NM_199340		62856783	62856783	-1	no_errors	ENST00000319651	ensembl	human	known	69_37n	missense	62	38.00	38	SNP	0.004	A
LRRC4	64101	genome.wustl.edu	37	7	127669484	127669484	+	Missense_Mutation	SNP	G	G	C	rs369406229		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:127669484G>C	ENST00000249363.3	-	2	1467	c.1210C>G	c.(1210-1212)Ctc>Gtc	p.L404V	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	404	Ig-like.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CCGTCGTTGAGGACAGAGATC	0.572																																						dbGAP											0													114.0	95.0	102.0					7																	127669484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1210C>G	7.37:g.127669484G>C	ENSP00000249363:p.Leu404Val		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like	p.L404V	ENST00000249363.3	37	c.1210	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102490	0.37145	.	.	ENSG00000128594	ENST00000249363	T	0.66280	-0.2	4.4	3.5	0.40072	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.62841	0.2461	L	0.56124	1.755	0.48185	D	0.999605	P	0.47302	0.893	P	0.50049	0.629	T	0.60115	-0.7326	10	0.34782	T	0.22	.	10.3629	0.44006	0.0979:0.0:0.9021:0.0	.	404	Q9HBW1	LRRC4_HUMAN	V	404	ENSP00000249363:L404V	ENSP00000249363:L404V	L	-	1	0	LRRC4	127456720	1.000000	0.71417	0.644000	0.29465	0.837000	0.47467	6.583000	0.74053	1.035000	0.39972	0.655000	0.94253	CTC	LRRC4	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000128594		0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	134	0.00	0	G	NM_022143		127669484	127669484	-1	no_errors	ENST00000249363	ensembl	human	known	69_37n	missense	27	58.46	38	SNP	0.998	C
LRRC8E	80131	genome.wustl.edu	37	19	7964037	7964037	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:7964037G>A	ENST00000306708.6	+	3	731	c.630G>A	c.(628-630)ccG>ccA	p.P210P	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	210					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGCGGAACCGGAGAAGGTGG	0.622																																						dbGAP											0													59.0	59.0	59.0					19																	7964037		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.630G>A	19.37:g.7964037G>A			B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P210	ENST00000306708.6	37	c.630	CCDS12189.1	19																																																																																			LRRC8E	-	NULL	ENSG00000171017		0.622	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	111	0.00	0	G	NM_025061		7964037	7964037	+1	no_errors	ENST00000306708	ensembl	human	known	69_37n	silent	19	54.55	24	SNP	0.000	A
LRRD1	401387	genome.wustl.edu	37	7	91794023	91794023	+	Missense_Mutation	SNP	T	T	A	rs185483517	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:91794023T>A	ENST00000458448.1	-	2	694	c.494A>T	c.(493-495)tAt>tTt	p.Y165F	LRRD1_ENST00000430130.2_Missense_Mutation_p.Y165F|LRRD1_ENST00000454089.2_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000422722.1_Intron			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	165					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						ATATTTTACATATTTGATTTT	0.348													T|||	19	0.00379393	0.0	0.0043	5008	,	,		16579	0.0		0.008	False		,,,				2504	0.0082					dbGAP											0													36.0	30.0	32.0					7																	91794023		692	1590	2282	-	-	-	SO:0001583	missense	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.494A>T	7.37:g.91794023T>A	ENSP00000405987:p.Tyr165Phe		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.Y165F	ENST00000458448.1	37	c.494	CCDS55124.1	7	10	0.004578754578754579	0	0.0	3	0.008287292817679558	0	0.0	7	0.009234828496042216	T	3.033	-0.199126	0.06219	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.24723	1.84;1.84	5.71	1.88	0.25563	.	.	.	.	.	T	0.09158	0.0226	L	0.27053	0.805	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.36768	-0.9734	9	0.10377	T	0.69	.	3.0987	0.06318	0.1146:0.1296:0.1194:0.6363	.	165	A4D1F6	LRRD1_HUMAN	F	165	ENSP00000405987:Y165F;ENSP00000411568:Y165F	ENSP00000411568:Y165F	Y	-	2	0	LRRD1	91631959	0.000000	0.05858	0.951000	0.38953	0.852000	0.48524	0.287000	0.18920	0.071000	0.16664	0.528000	0.53228	TAT	LRRD1	-	NULL	ENSG00000240720		0.348	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	44	0.00	0	T	NM_001045475		91794023	91794023	-1	no_errors	ENST00000430130	ensembl	human	known	69_37n	missense	61	52.67	69	SNP	0.017	A
LRRFIP1	9208	genome.wustl.edu	37	2	238672522	238672522	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:238672522C>T	ENST00000392000.4	+	11	2283	c.2166C>T	c.(2164-2166)gaC>gaT	p.D722D	LRRFIP1_ENST00000244815.5_Silent_p.D698D|LRRFIP1_ENST00000289175.6_Silent_p.D666D|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	722					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAGCGAAGACGCAGATCGCT	0.483																																						dbGAP											0													53.0	52.0	52.0					2																	238672522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.2166C>T	2.37:g.238672522C>T			E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.D722	ENST00000392000.4	37	c.2166	CCDS46552.1	2																																																																																			LRRFIP1	-	NULL	ENSG00000124831		0.483	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	72	0.00	0	C	NM_004735		238672522	238672522	+1	no_errors	ENST00000392000	ensembl	human	known	69_37n	silent	13	59.38	19	SNP	0.000	T
MACF1	23499	genome.wustl.edu	37	1	39796972	39796972	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:39796972G>A	ENST00000372915.3	+	36	4814	c.4727G>A	c.(4726-4728)gGc>gAc	p.G1576D	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.G1571D|MACF1_ENST00000567887.1_Missense_Mutation_p.G1608D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G11D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1576					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGACACAGGCCTAGTGCTT	0.507																																						dbGAP											0													71.0	65.0	67.0					1																	39796972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4727G>A	1.37:g.39796972G>A	ENSP00000362006:p.Gly1576Asp		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	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_RNaseH-like_dom,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.G1608D	ENST00000372915.3	37	c.4823		1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277998	0.40294	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69435	-0.4;-0.4	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000030	T	0.81805	0.4900	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.82012	-0.0668	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1576	Q9UPN3	MACF1_HUMAN	D	1576;11	ENSP00000362006:G1576D;ENSP00000289893:G11D	ENSP00000289893:G11D	G	+	2	0	MACF1	39569559	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	9.750000	0.98875	2.831000	0.97527	0.650000	0.86243	GGC	MACF1	-	superfamily_RNaseH-like_dom,smart_Plectin_repeat	ENSG00000127603		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	31	0.00	0	G	NM_033044		39796972	39796972	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	missense	24	45.45	20	SNP	1.000	A
MADCAM1	8174	genome.wustl.edu	37	19	501805	501805	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:501805C>T	ENST00000215637.3	+	4	850	c.804C>T	c.(802-804)acC>acT	p.T268T	MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Silent_p.T49T|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	268	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CCGACAAGACCTCCCCGGAGC	0.731																																						dbGAP											0													12.0	14.0	13.0					19																	501805		2115	4139	6254	-	-	-	SO:0001819	synonymous_variant	0			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.804C>T	19.37:g.501805C>T			A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like	p.T268	ENST00000215637.3	37	c.804	CCDS12028.1	19																																																																																			MADCAM1	-	NULL	ENSG00000099866		0.731	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	81	0.00	0	C	NM_130760		501805	501805	+1	no_errors	ENST00000215637	ensembl	human	known	69_37n	silent	18	45.71	16	SNP	0.065	T
MAF1	84232	genome.wustl.edu	37	8	145160613	145160613	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:145160613T>C	ENST00000322428.5	+	2	431	c.27T>C	c.(25-27)ttT>ttC	p.F9F	MAF1_ENST00000534585.1_Silent_p.F9F|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Silent_p.F9F|SHARPIN_ENST00000398712.2_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	9					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	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;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACTCGAGCTTTGAAGCCATCA	0.572																																						dbGAP											0													88.0	80.0	83.0					8																	145160613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.27T>C	8.37:g.145160613T>C			D3DWL4	Silent	SNP	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1	p.F9	ENST00000322428.5	37	c.27	CCDS6416.1	8																																																																																			MAF1	-	pirsf_RNA_pol_III_tscrpt_repres_MAF1	ENSG00000179632		0.572	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	53	0.00	0	T	NM_032272		145160613	145160613	+1	no_errors	ENST00000322428	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	0.954	C
MAGEB10	139422	genome.wustl.edu	37	X	27840071	27840071	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:27840071T>C	ENST00000356790.2	+	3	893	c.648T>C	c.(646-648)aaT>aaC	p.N216N		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	216	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						CAAATGGCAATTGTGTCGCTG	0.483																																						dbGAP											0													67.0	55.0	59.0					X																	27840071		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	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.648T>C	X.37:g.27840071T>C			Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.N216	ENST00000356790.2	37	c.648	CCDS35221.1	X																																																																																			MAGEB10	-	pfam_MAGE,pfscan_MAGE	ENSG00000177689		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	115	0.00	0	T	NM_182506		27840071	27840071	+1	no_errors	ENST00000356790	ensembl	human	known	69_37n	silent	36	49.30	35	SNP	0.001	C
MANEA	79694	genome.wustl.edu	37	6	96052716	96052716	+	Missense_Mutation	SNP	T	T	G	rs560026341		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:96052716T>G	ENST00000358812.4	+	4	802	c.668T>G	c.(667-669)aTa>aGa	p.I223R	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	223	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACTTTTCACATAGAACCATAT	0.224													T|||	1	0.000199681	0.0	0.0	5008	,	,		12739	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													28.0	29.0	29.0					6																	96052716		2151	4203	6354	-	-	-	SO:0001583	missense	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.668T>G	6.37:g.96052716T>G	ENSP00000351669:p.Ile223Arg		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.I223R	ENST00000358812.4	37	c.668	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429516	0.83776	.	.	ENSG00000172469	ENST00000358812	D	0.93906	-3.31	5.98	5.98	0.97165	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96174	0.9125	10	0.44086	T	0.13	-23.0323	15.6378	0.76970	0.0:0.0:0.0:1.0	.	223	Q5SRI9	MANEA_HUMAN	R	223	ENSP00000351669:I223R	ENSP00000351669:I223R	I	+	2	0	MANEA	96159437	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.599000	0.82757	2.293000	0.77203	0.477000	0.44152	ATA	MANEA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172469		0.224	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	40	0.00	0	T	NM_024641		96052716	96052716	+1	no_errors	ENST00000358812	ensembl	human	known	69_37n	missense	119	49.15	115	SNP	1.000	G
MAP3K4	4216	genome.wustl.edu	37	6	161533713	161533713	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:161533713T>C	ENST00000392142.4	+	25	4681	c.4533T>C	c.(4531-4533)ccT>ccC	p.P1511P	MAP3K4_ENST00000366919.2_Silent_p.P1461P|MAP3K4_ENST00000366920.2_Silent_p.P1507P|MAP3K4_ENST00000348824.7_Silent_p.P1457P	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ACATGGCACCTGAAGTCATCA	0.443																																						dbGAP											0													124.0	123.0	123.0					6																	161533713		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4533T>C	6.37:g.161533713T>C			A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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.P1511	ENST00000392142.4	37	c.4533	CCDS34565.1	6																																																																																			MAP3K4	-	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	ENSG00000085511		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	29	0.00	0	T			161533713	161533713	+1	no_errors	ENST00000392142	ensembl	human	known	69_37n	silent	39	47.30	35	SNP	1.000	C
MAPK7	5598	genome.wustl.edu	37	17	19284835	19284835	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:19284835C>T	ENST00000308406.5	+	4	1699	c.1313C>T	c.(1312-1314)cCg>cTg	p.P438L	MAPK7_ENST00000299612.7_Missense_Mutation_p.P299L|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.P438L|MAPK7_ENST00000395602.4_Missense_Mutation_p.P438L|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	438	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|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 inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|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)|regulation of angiogenesis (GO:0045765)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCACCAGCCCCGCCACCATGC	0.622																																						dbGAP											0													56.0	62.0	60.0					17																	19284835		2203	4300	6503	-	-	-	SO:0001583	missense	0			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1313C>T	17.37:g.19284835C>T	ENSP00000311005:p.Pro438Leu		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	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.P438L	ENST00000308406.5	37	c.1313	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.322655	0.00232	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.73575	-0.53;-0.76;-0.53;-0.53	4.41	-1.33	0.09172	.	0.429674	0.25214	N	0.032290	T	0.37433	0.1003	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	10	0.02654	T	1	-1.0E-4	8.6067	0.33778	0.0:0.4817:0.0:0.5183	.	438	Q13164	MK07_HUMAN	L	438;299;438;438	ENSP00000311005:P438L;ENSP00000299612:P299L;ENSP00000378968:P438L;ENSP00000378966:P438L	ENSP00000299612:P299L	P	+	2	0	MAPK7	19225428	0.000000	0.05858	0.004000	0.12327	0.153000	0.21895	-0.101000	0.10973	-0.082000	0.12640	-0.254000	0.11334	CCG	MAPK7	-	NULL	ENSG00000166484		0.622	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	43	0.00	0	C	NM_139033		19284835	19284835	+1	no_errors	ENST00000308406	ensembl	human	known	69_37n	missense	14	74.55	41	SNP	0.000	T
MAVS	57506	genome.wustl.edu	37	20	3845016	3845016	+	Missense_Mutation	SNP	G	G	T	rs560699553		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:3845016G>T	ENST00000428216.2	+	6	867	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	MAVS_ENST00000416600.2_Missense_Mutation_p.V106F|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	247					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|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 interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|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-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGGGTCAGTTGTATCTAC	0.642																																						dbGAP											0													74.0	67.0	69.0					20																	3845016		2203	4300	6503	-	-	-	SO:0001583	missense	0			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.739G>T	20.37:g.3845016G>T	ENSP00000401980:p.Val247Phe		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	NULL	p.V247F	ENST00000428216.2	37	c.739	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494405	0.64186	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.36699	1.24;2.4	4.26	4.26	0.50523	.	0.419071	0.17723	N	0.164177	T	0.37785	0.1016	N	0.22421	0.69	0.21861	N	0.999502	D	0.60160	0.987	P	0.55303	0.773	T	0.16364	-1.0405	10	0.66056	D	0.02	-0.2578	12.4424	0.55631	0.0:0.0:1.0:0.0	.	247	Q7Z434	MAVS_HUMAN	F	106;247	ENSP00000413749:V106F;ENSP00000401980:V247F	ENSP00000413749:V106F	V	+	1	0	MAVS	3793016	0.005000	0.15991	0.564000	0.28396	0.006000	0.05464	0.933000	0.28897	2.391000	0.81399	0.555000	0.69702	GTT	MAVS	-	NULL	ENSG00000088888		0.642	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	42	0.00	0	G	NM_020746		3845016	3845016	+1	no_errors	ENST00000428216	ensembl	human	known	69_37n	missense	23	37.84	14	SNP	0.812	T
MBD3L3	653657	genome.wustl.edu	37	19	7056553	7056553	+	Missense_Mutation	SNP	C	C	T	rs199680919	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:7056553C>T	ENST00000333843.4	-	2	441	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_001164425.1	NP_001157897.1	A6NE82	MB3L3_HUMAN	methyl-CpG binding domain protein 3-like 3	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					central_nervous_system(1)|lung(5)|stomach(1)	7						AAGCGGGCTGCGCACACGCTC	0.632																																						dbGAP											0													36.0	45.0	42.0					19																	7056553		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45944.1	19p13.2	2014-04-01			ENSG00000182315	ENSG00000182315			37205	protein-coding gene	gene with protein product							Standard	NM_001164425		Approved		uc021uns.1	A6NE82	OTTHUMG00000181976	ENST00000333843.4:c.407G>A	19.37:g.7056553C>T	ENSP00000333183:p.Arg136His			Missense_Mutation	SNP	NULL	p.R136H	ENST00000333843.4	37	c.407	CCDS45944.1	19	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.031306	0.00410	.	.	ENSG00000182315	ENST00000333843	.	.	.	0.742	0.742	0.18341	.	1.821020	0.03465	N	0.212818	T	0.07279	0.0184	N	0.00413	-1.525	0.09310	N	1	.	.	.	.	.	.	T	0.35992	-0.9766	7	0.02654	T	1	-3.5374	3.0013	0.06015	0.0:0.3185:0.0:0.6815	.	.	.	.	H	136	.	ENSP00000333183:R136H	R	-	2	0	MBD3L3	7007553	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.532000	0.02217	-0.239000	0.09710	-0.981000	0.02577	CGC	MBD3L3	-	NULL	ENSG00000182315		0.632	MBD3L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L3	HGNC	protein_coding	OTTHUMT00000458500.1	102	0.00	0	C	NM_001164425		7056553	7056553	-1	no_errors	ENST00000333843	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.005	T
MBD3L3	653657	genome.wustl.edu	37	19	7056571	7056571	+	Missense_Mutation	SNP	G	G	T	rs111605618	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:7056571G>T	ENST00000333843.4	-	2	423	c.389C>A	c.(388-390)gCt>gAt	p.A130D		NM_001164425.1	NP_001157897.1	A6NE82	MB3L3_HUMAN	methyl-CpG binding domain protein 3-like 3	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.A130D(1)		central_nervous_system(1)|lung(5)|stomach(1)	7						CTCAGCACCAGCCCTGTCCAG	0.637													-|||	838	0.167332	0.118	0.2522	5008	,	,		41704	0.0417		0.2962	False		,,,				2504	0.1708					dbGAP											1	Substitution - Missense(1)	stomach(1)											52.0	62.0	59.0					19																	7056571		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45944.1	19p13.2	2014-04-01			ENSG00000182315	ENSG00000182315			37205	protein-coding gene	gene with protein product							Standard	NM_001164425		Approved		uc021uns.1	A6NE82	OTTHUMG00000181976	ENST00000333843.4:c.389C>A	19.37:g.7056571G>T	ENSP00000333183:p.Ala130Asp			Missense_Mutation	SNP	NULL	p.A130D	ENST00000333843.4	37	c.389	CCDS45944.1	19	.	.	.	.	.	.	.	.	.	.	.	3.926	-0.017102	0.07681	.	.	ENSG00000182315	ENST00000333843	.	.	.	0.742	-1.48	0.08745	.	.	.	.	.	T	0.32615	0.0835	L	0.43923	1.385	0.80722	P	0.0	.	.	.	.	.	.	T	0.33752	-0.9856	5	0.42905	T	0.14	-12.4801	2.5805	0.04817	0.2531:0.3037:0.4432:0.0	.	.	.	.	D	130	.	ENSP00000333183:A130D	A	-	2	0	MBD3L3	7007571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	-1.270000	0.02433	-1.511000	0.00944	GCT	MBD3L3	-	NULL	ENSG00000182315		0.637	MBD3L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L3	HGNC	protein_coding	OTTHUMT00000458500.1	126	0.00	0	G	NM_001164425		7056571	7056571	-1	no_errors	ENST00000333843	ensembl	human	known	69_37n	missense	31	41.51	22	SNP	0.000	T
MCF2L	23263	genome.wustl.edu	37	13	113622157	113622157	+	Intron	SNP	A	A	G	rs12323211	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:113622157A>G	ENST00000375608.3	+	3	227				MCF2L-AS1_ENST00000446789.2_RNA|MCF2L_ENST00000397030.1_5'Flank|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000535094.2_5'Flank|RP11-120K24.3_ENST00000602192.1_lincRNA|MCF2L_ENST00000375604.2_5'Flank			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						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)				GGAATGGTGCACGCATGCCCT	0.552													A|||	963	0.192292	0.3767	0.1225	5008	,	,		27673	0.1786		0.0934	False		,,,				2504	0.1084					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.170-46920A>G	13.37:g.113622157A>G			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	RNA	SNP	-	NULL	ENST00000375608.3	37	NULL		13																																																																																			MCF2L-AS1	-	-	ENSG00000235280		0.552	MCF2L-001	KNOWN	basic	protein_coding	MCF2L-AS1	HGNC	protein_coding	OTTHUMT00000045849.4	19	0.00	0	A			113622157	113622157	-1	no_errors	ENST00000446789	ensembl	human	known	69_37n	rna	5	50.00	5	SNP	0.002	G
MCF2L	23263	genome.wustl.edu	37	13	113622279	113622279	+	Intron	SNP	G	G	C	rs61963567	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:113622279G>C	ENST00000375608.3	+	3	227				MCF2L-AS1_ENST00000446789.2_RNA|MCF2L_ENST00000397030.1_5'Flank|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000535094.2_5'Flank|RP11-120K24.3_ENST00000602192.1_lincRNA|MCF2L_ENST00000375604.2_5'Flank			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						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)				AATGGTGCACGCATGCTCTGT	0.512													g|||	163	0.0325479	0.0068	0.0303	5008	,	,		26430	0.0		0.0497	False		,,,				2504	0.0849					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.170-46798G>C	13.37:g.113622279G>C			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	RNA	SNP	-	NULL	ENST00000375608.3	37	NULL		13																																																																																			MCF2L-AS1	-	-	ENSG00000235280		0.512	MCF2L-001	KNOWN	basic	protein_coding	MCF2L-AS1	HGNC	protein_coding	OTTHUMT00000045849.4	16	0.00	0	G			113622279	113622279	-1	no_errors	ENST00000446789	ensembl	human	known	69_37n	rna	3	66.67	6	SNP	0.001	C
MCMBP	79892	genome.wustl.edu	37	10	121618637	121618637	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:121618637T>C	ENST00000360003.3	-	3	370	c.201A>G	c.(199-201)aaA>aaG	p.K67K	MCMBP_ENST00000369077.3_Silent_p.K67K|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	67					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGCAACGAAATTTCACAAAAC	0.343																																						dbGAP											0													66.0	67.0	67.0					10																	121618637		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.201A>G	10.37:g.121618637T>C			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	pfam_MCM_complex-bd	p.K67	ENST00000360003.3	37	c.201	CCDS7617.1	10																																																																																			MCMBP	-	pfam_MCM_complex-bd	ENSG00000197771		0.343	MCMBP-002	KNOWN	basic|CCDS	protein_coding	MCMBP	HGNC	protein_coding	OTTHUMT00000050684.1	133	0.00	0	T	NM_024834		121618637	121618637	-1	no_errors	ENST00000360003	ensembl	human	known	69_37n	silent	89	44.44	72	SNP	0.997	C
MCPH1	79648	genome.wustl.edu	37	8	6302476	6302476	+	Silent	SNP	A	A	G	rs201026769	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:6302476A>G	ENST00000344683.5	+	8	1309	c.1233A>G	c.(1231-1233)tcA>tcG	p.S411S	MCPH1_ENST00000522905.1_Silent_p.S363S|MCPH1_ENST00000519480.1_Silent_p.S411S	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	411					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAGTCTTCATATGATGACT	0.522													A|||	7	0.00139776	0.0	0.0	5008	,	,		18885	0.0		0.001	False		,,,				2504	0.0061				Colon(95;1448 1467 8277 34473 35819)	dbGAP											0													59.0	62.0	61.0					8																	6302476		1991	4170	6161	-	-	-	SO:0001819	synonymous_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1233A>G	8.37:g.6302476A>G			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.S411	ENST00000344683.5	37	c.1233	CCDS43689.1	8																																																																																			MCPH1	-	pfam_Microcephalin	ENSG00000147316		0.522	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	11	0.00	0	A	NM_024596		6302476	6302476	+1	no_errors	ENST00000344683	ensembl	human	known	69_37n	silent	18	52.63	20	SNP	0.000	G
MED12L	116931	genome.wustl.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	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)			CAGCAGGCCTCGCCGTACCTG	0.517																																						dbGAP											0													71.0	72.0	72.0					3																	151129262		2203	4300	6503	-	-	-	SO:0001583	missense	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.6002C>T	3.37:g.151129262C>T	ENSP00000417235:p.Ser2001Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.S2001L	ENST00000474524.1	37	c.6002	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084020	0.55861	.	.	ENSG00000144893	ENST00000474524	T	0.57907	0.37	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.198038	0.45361	D	0.000371	T	0.45337	0.1337	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.36817	-0.9732	10	0.62326	D	0.03	-4.2631	17.7294	0.88373	0.0:1.0:0.0:0.0	.	2001	Q86YW9	MD12L_HUMAN	L	2001	ENSP00000417235:S2001L	ENSP00000417235:S2001L	S	+	2	0	MED12L	152611952	0.197000	0.23362	0.555000	0.28281	0.539000	0.34962	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCG	MED12L	-	pfam_Mediator_Med12_catenin-bd	ENSG00000144893		0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	48	0.00	0	C	NM_053002		151129262	151129262	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	missense	14	62.16	23	SNP	0.646	T
METTL11B	149281	genome.wustl.edu	37	1	170135875	170135875	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:170135875G>T	ENST00000439373.2	+	3	670	c.563G>T	c.(562-564)tGg>tTg	p.W188L	METTL11B_ENST00000367764.3_3'UTR	NM_001136107.1	NP_001129579.1	Q5VVY1	NTM1B_HUMAN	methyltransferase like 11B	188						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			NS(1)|breast(2)|endometrium(3)|prostate(2)	8						GATGTCATCTGGATTCAGTGG	0.522																																						dbGAP											0													91.0	77.0	81.0					1																	170135875		692	1591	2283	-	-	-	SO:0001583	missense	0			AL445203, CAH72139	CCDS44275.1	1q24.2	2012-11-05	2008-06-11	2008-06-11	ENSG00000203740	ENSG00000203740			31932	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 184"""	C1orf184			Standard	NM_001136107		Approved	HOMT1B	uc009wvv.1	Q5VVY1	OTTHUMG00000035959	ENST00000439373.2:c.563G>T	1.37:g.170135875G>T	ENSP00000408058:p.Trp188Leu		B2RXI0	Missense_Mutation	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik	p.W188L	ENST00000439373.2	37	c.563	CCDS44275.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490375	0.84962	.	.	ENSG00000203740	ENST00000439373	T	0.47528	0.84	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77587	-0.2532	10	0.62326	D	0.03	-13.0826	18.2165	0.89887	0.0:0.0:1.0:0.0	.	188	Q5VVY1	NTM1B_HUMAN	L	188	ENSP00000408058:W188L	ENSP00000408058:W188L	W	+	2	0	METTL11B	168402499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.378000	0.97191	2.448000	0.82819	0.655000	0.94253	TGG	METTL11B	-	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik	ENSG00000203740		0.522	METTL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL11B	HGNC	protein_coding	OTTHUMT00000087586.2	24	0.00	0	G	NM_001136107		170135875	170135875	+1	no_errors	ENST00000439373	ensembl	human	known	69_37n	missense	43	46.25	37	SNP	1.000	T
METTL15	196074	genome.wustl.edu	37	11	28134974	28134974	+	Missense_Mutation	SNP	C	C	A	rs60970073	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:28134974C>A	ENST00000407364.3	+	3	445	c.93C>A	c.(91-93)aaC>aaA	p.N31K	METTL15_ENST00000406787.3_Missense_Mutation_p.N31K|METTL15_ENST00000303459.6_Missense_Mutation_p.N31K|METTL15_ENST00000379199.2_Missense_Mutation_p.N31K|METTL15_ENST00000403099.1_Missense_Mutation_p.N31K|METTL15_ENST00000342303.5_Missense_Mutation_p.N31K			A6NJ78	MET15_HUMAN	methyltransferase like 15	31			N -> K (in dbSNP:rs2883478). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.				methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						TCTGGCCAAACAGAATACATA	0.383													A|||	3025	0.604034	0.764	0.3905	5008	,	,		13842	0.756		0.4364	False		,,,				2504	0.5552					dbGAP											0													26.0	40.0	35.0					11																	28134974		2141	4280	6421	-	-	-	SO:0001583	missense	0			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.93C>A	11.37:g.28134974C>A	ENSP00000384369:p.Asn31Lys		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	pfam_SAM-dep_MeTrfase_MraW,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_SAM-dep_MeTrfase_MraW	p.N31K	ENST00000407364.3	37	c.93	CCDS44559.1	11	1152	0.5274725274725275	329	0.6686991869918699	131	0.36187845303867405	401	0.701048951048951	291	0.3839050131926121	A	0.003	-2.405788	0.00193	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000403099;ENST00000407364;ENST00000379199;ENST00000303459	T;T;T;T;T;T	0.36699	1.65;1.69;1.26;2.1;1.24;1.69	5.68	-3.88	0.04205	.	0.448998	0.23920	N	0.043252	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29058	-1.0024	8	0.02654	T	1	.	7.6202	0.28181	0.3776:0.301:0.3214:0.0	rs60970073;rs61888969	31;31;31	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	K	31	ENSP00000385507:N31K;ENSP00000342259:N31K;ENSP00000385860:N31K;ENSP00000384369:N31K;ENSP00000368497:N31K;ENSP00000307251:N31K	ENSP00000307251:N31K	N	+	3	2	METTL15	28091550	0.340000	0.24792	0.011000	0.14972	0.058000	0.15608	0.395000	0.20850	-1.457000	0.01919	-2.677000	0.00143	AAC	METTL15	-	NULL	ENSG00000169519		0.383	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	METTL15	HGNC	protein_coding	OTTHUMT00000318135.2	50	0.00	0	C	NM_152636		28134974	28134974	+1	no_errors	ENST00000303459	ensembl	human	known	69_37n	missense	37	54.88	45	SNP	0.010	A
METTL16	79066	genome.wustl.edu	37	17	2323420	2323420	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:2323420G>A	ENST00000263092.6	-	10	1660	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	METTL16_ENST00000538844.1_Silent_p.A293A|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	511							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						GGTACTGTCCGGCCACTCCTG	0.537																																						dbGAP											0													75.0	83.0	81.0					17																	2323420		2014	4166	6180	-	-	-	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.1533C>T	17.37:g.2323420G>A			D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	p.A511	ENST00000263092.6	37	c.1533	CCDS42232.1	17																																																																																			METTL16	-	pirsf_S-AdoMet-dep_MeTrfase_Mett10D	ENSG00000127804		0.537	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	68	0.00	0	G	NM_024086		2323420	2323420	-1	no_errors	ENST00000263092	ensembl	human	known	69_37n	silent	44	48.24	41	SNP	0.012	A
METTL2B	55798	genome.wustl.edu	37	7	128119514	128119514	+	Missense_Mutation	SNP	G	G	A	rs1065267	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:128119514G>A	ENST00000262432.8	+	3	542	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	METTL2B_ENST00000480046.1_Missense_Mutation_p.E104K|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	169			E -> K (in dbSNP:rs1065267).		tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TAGTGACCTGGAAATTTGTGC	0.408																																						dbGAP											0													91.0	108.0	102.0					7																	128119514		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.505G>A	7.37:g.128119514G>A	ENSP00000262432:p.Glu169Lys		B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.E169K	ENST00000262432.8	37	c.505	CCDS5803.2	7	188	0.08608058608058608	11	0.022357723577235773	46	0.1270718232044199	0	0.0	131	0.17282321899736147	G	5.147	0.212742	0.09757	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.17691	2.26;2.8;2.79	2.65	1.7	0.24286	.	0.906623	0.09774	N	0.757606	T	0.00039	0.0001	L	0.31664	0.95	0.80722	P	0.0	B;B	0.14805	0.001;0.011	B;B	0.14578	0.006;0.011	T	0.40813	-0.9543	9	0.09590	T	0.72	-1.7228	7.2315	0.26045	0.0:0.2783:0.7217:0.0	rs1065267;rs1065267	104;169	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	K	163;169;104	ENSP00000418634:E163K;ENSP00000262432:E169K;ENSP00000418402:E104K	ENSP00000262432:E169K	E	+	1	0	METTL2B	127906750	0.652000	0.27349	0.721000	0.30653	0.035000	0.12851	1.379000	0.34340	0.405000	0.25532	0.405000	0.27470	GAA	METTL2B	-	pirsf_MeTrfase_METTL2_prd	ENSG00000165055		0.408	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	136	0.00	0	G	NM_018396		128119514	128119514	+1	no_errors	ENST00000262432	ensembl	human	known	69_37n	missense	251	34.97	135	SNP	0.159	A
MGAM	8972	genome.wustl.edu	37	7	141776541	141776541	+	Intron	SNP	T	T	C	rs117227399	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:141776541T>C	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.M1803T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTTGGGATGGAGGAACCT	0.388													N|||	103	0.0205671	0.0023	0.0231	5008	,	,		17462	0.001		0.0716	False		,,,				2504	0.0112					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+11273T>C	7.37:g.141776541T>C			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.M1804T	ENST00000549489.2	37	c.5411	CCDS47727.1	7	54	0.024725274725274724	1	0.0020325203252032522	12	0.03314917127071823	1	0.0017482517482517483	40	0.052770448548812667	C	5.897	0.349531	0.11182	.	.	ENSG00000257335	ENST00000475668	.	.	.	3.77	-2.4	0.06583	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18023	-1.0350	5	0.28530	T	0.3	.	10.641	0.45592	0.0:0.3087:0.0:0.6913	.	.	.	.	T	1804	.	ENSP00000417515:M1804T	M	+	2	0	MGAM	141423010	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.780000	0.00773	-0.951000	0.03654	-1.164000	0.01763	ATG	MGAM	-	NULL	ENSG00000257335		0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	15	0.00	0	T			141776541	141776541	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	missense	41	68.94	91	SNP	0.002	C
MGAM	8972	genome.wustl.edu	37	7	141784326	141784326	+	Intron	SNP	G	G	C	rs10952514	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:141784326G>C	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.G2130A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAGTTGATTGGCCGGCCTGTG	0.433													g|||	1251	0.2498	0.1112	0.2291	5008	,	,		16891	0.2917		0.3777	False		,,,				2504	0.2771					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-10094G>C	7.37:g.141784326G>C			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.G2131A	ENST00000549489.2	37	c.6392	CCDS47727.1	7	590	0.27014652014652013	46	0.09349593495934959	104	0.287292817679558	167	0.291958041958042	273	0.36015831134564646	G	16.71	3.199726	0.58126	.	.	ENSG00000257335	ENST00000475668	.	.	.	5.19	4.31	0.51392	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.27893	P	0.9392732	.	.	.	.	.	.	T	0.10847	-1.0612	4	0.87932	D	0	.	12.9106	0.58177	0.0804:0.0:0.9196:0.0	rs10952514	.	.	.	A	2131	.	ENSP00000417515:G2131A	G	+	2	0	MGAM	141430795	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	7.557000	0.82243	1.341000	0.45600	0.442000	0.29010	GGC	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	66	0.00	0	G			141784326	141784326	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	missense	0	99.44	178	SNP	1.000	C
MGAM	8972	genome.wustl.edu	37	7	141785648	141785648	+	Intron	SNP	G	G	C	rs573177212		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:141785648G>C	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.D2175H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGTACTCAGACATCGACTA	0.582													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17440	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-8772G>C	7.37:g.141785648G>C			Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D2176H	ENST00000549489.2	37	c.6526	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487434	0.63962	.	.	ENSG00000257335	ENST00000475668	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	T	0.76271	0.3964	.	.	.	0.43678	D	0.996117	.	.	.	.	.	.	T	0.80377	-0.1408	5	0.87932	D	0	.	16.552	0.84474	0.0:0.0:1.0:0.0	.	.	.	.	H	2176	.	ENSP00000417515:D2176H	D	+	1	0	MGAM	141432117	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	9.642000	0.98461	2.258000	0.74832	0.462000	0.41574	GAC	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.582	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	17	0.00	0	G			141785648	141785648	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	missense	31	35.42	17	SNP	1.000	C
MGAT5B	146664	genome.wustl.edu	37	17	74944009	74944009	+	Missense_Mutation	SNP	G	G	C	rs541634415		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:74944009G>C	ENST00000569840.2	+	17	2595	c.2021G>C	c.(2020-2022)cGg>cCg	p.R674P	MGAT5B_ENST00000301618.4_Missense_Mutation_p.R672P|RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R683P	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	674					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						GAGTGGGCTCGGAACACCAGC	0.721																																						dbGAP											0													28.0	29.0	28.0					17																	74944009		2203	4299	6502	-	-	-	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.2021G>C	17.37:g.74944009G>C	ENSP00000456037:p.Arg674Pro		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R683P	ENST00000569840.2	37	c.2048	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	4.696	0.129372	0.08981	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.43688	0.95;0.94	4.66	-8.78	0.00824	.	0.551583	0.18458	N	0.140624	T	0.07458	0.0188	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.24548	-1.0157	10	0.31617	T	0.26	-4.3483	3.712	0.08423	0.5096:0.1628:0.2416:0.086	.	79;683;672	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	P	672;683	ENSP00000301618:R672P;ENSP00000391227:R683P	ENSP00000301618:R672P	R	+	2	0	MGAT5B	72455604	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.456000	0.06754	-1.290000	0.02372	-1.334000	0.01262	CGG	MGAT5B	-	NULL	ENSG00000167889		0.721	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	13	0.00	0	G	NM_144677		74944009	74944009	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.031	C
MIR1302-3	100302128	genome.wustl.edu	37	2	114340547	114340547	+	RNA	SNP	A	A	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:114340547A>C	ENST00000408128.1	-	0	126					NR_031632.1				microRNA 1302-3																		aaaatgcttaattttgaatct	0.378																																						dbGAP											0													47.0	45.0	46.0					2																	114340547		1566	3574	5140	-	-	-			0					2q13	2011-09-12		2008-12-18	ENSG00000221055	ENSG00000221055		"""ncRNAs / Micro RNAs"""	35295	non-coding RNA	RNA, micro				MIRN1302-3			Standard	NR_031632		Approved	hsa-mir-1302-3					2.37:g.114340547A>C				RNA	SNP	-	NULL	ENST00000408128.1	37	NULL		2																																																																																			MIR1302-3	-	-	ENSG00000221055		0.378	MIR1302-3-201	KNOWN	basic	miRNA	MIR1302-3	HGNC	miRNA		207	0.00	0	A	NR_031632		114340547	114340547	-1	no_errors	ENST00000408128	ensembl	human	known	69_37n	rna	449	11.96	61	SNP	0.027	C
LINCMD1	101154644	genome.wustl.edu	37	6	52009225	52009225	+	lincRNA	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:52009225G>A	ENST00000418518.2	-	0	924				MIR206_ENST00000384872.1_RNA																							GTGTGGTTTCGGCAAGTGCCT	0.542																																						dbGAP											0													76.0	76.0	76.0					6																	52009225		1568	3582	5150	-	-	-			0																															6.37:g.52009225G>A				RNA	SNP	-	NULL	ENST00000418518.2	37	NULL		6																																																																																			MIR206	-	-	ENSG00000207604		0.542	MIR133BHG-001	KNOWN	basic	lincRNA	MIR206	HGNC	lincRNA	OTTHUMT00000040895.1	34	0.00	0	G			52009225	52009225	+1	no_errors	ENST00000384872	ensembl	human	known	69_37n	rna	36	48.57	34	SNP	0.999	A
KMT2B	9757	genome.wustl.edu	37	19	36220954	36220954	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:36220954G>A	ENST00000222270.7	+	23	5004	c.5004G>A	c.(5002-5004)cgG>cgA	p.R1668R	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.R1668R	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1668					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)										TGTGTGCCCGGGCCAGCTACT	0.602																																						dbGAP											0													45.0	48.0	47.0					19																	36220954		2110	4238	6348	-	-	-	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.5004G>A	19.37:g.36220954G>A			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.R1668	ENST00000222270.7	37	c.5004	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax,smart_Znf_PHD	ENSG00000105663		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		55	0.00	0	G	NM_014727		36220954	36220954	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	silent	19	44.12	15	SNP	0.982	A
MRE11A	4361	genome.wustl.edu	37	11	94225807	94225807	+	Intron	SNP	C	C	T	rs496797	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:94225807C>T	ENST00000323929.3	-	2	243				MRE11A_ENST00000393241.4_Intron|ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Splice_Site|ANKRD49_ENST00000540349.1_5'Flank|MRE11A_ENST00000536144.1_Intron|MRE11A_ENST00000540013.1_Intron|ANKRD49_ENST00000544253.1_5'Flank	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|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)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATTCCAAATACCCTTTTTGAT	0.284								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				T|||	2769	0.552915	0.643	0.5173	5008	,	,		17305	0.501		0.4642	False		,,,				2504	0.6012					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.20+140G>A	11.37:g.94225807C>T			O43475	Splice_Site	SNP	-	e1+1	ENST00000323929.3	37	c.29+1	CCDS8299.1	11	1167	0.5343406593406593	327	0.6646341463414634	189	0.5220994475138122	313	0.5472027972027972	338	0.44591029023746703	T	9.853	1.194133	0.22037	.	.	ENSG00000020922	ENST00000407439	.	.	.	3.89	-0.00149	0.14034	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5484	0.00658	0.1715:0.2039:0.1774:0.4472	rs496797;rs59816409	.	.	.	.	-1	.	.	.	-	.	.	MRE11A	93865455	0.000000	0.05858	0.001000	0.08648	0.445000	0.32107	-1.453000	0.02383	-0.402000	0.07633	-0.361000	0.07541	.	MRE11A	-	-	ENSG00000020922		0.284	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	18	0.00	0	C	NM_005591		94225807	94225807	-1	no_errors	ENST00000407439	ensembl	human	putative	69_37n	splice_site	27	18.18	6	SNP	0.004	T
MRPS27	23107	genome.wustl.edu	37	5	71616004	71616004	+	Silent	SNP	T	T	C	rs553801640		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:71616004T>C	ENST00000261413.5	-	1	84	c.45A>G	c.(43-45)caA>caG	p.Q15Q	MRPS27_ENST00000515404.1_Intron|PTCD2_ENST00000503868.1_5'Flank|MRPS27_ENST00000522095.1_Silent_p.Q15Q|PTCD2_ENST00000543322.1_5'Flank|MRPS27_ENST00000457646.4_Intron|PTCD2_ENST00000380639.5_5'Flank|MRPS27_ENST00000513900.1_Silent_p.Q15Q|PTCD2_ENST00000536805.1_5'Flank	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	15						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GAAGAACCACTTGCCGCGCCA	0.587													T|||	1	0.000199681	0.0	0.0	5008	,	,		17743	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													49.0	50.0	49.0					5																	71616004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.45A>G	5.37:g.71616004T>C			B4DRT2|Q6P1S1	Silent	SNP	pfam_Ribosomal_S27_mit	p.Q15	ENST00000261413.5	37	c.45	CCDS4013.1	5																																																																																			MRPS27	-	pfam_Ribosomal_S27_mit	ENSG00000113048		0.587	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	44	0.00	0	T	NM_015084		71616004	71616004	-1	no_errors	ENST00000513900	ensembl	human	known	69_37n	silent	13	40.91	9	SNP	0.000	C
MRRFP1	286423	genome.wustl.edu	37	X	122250996	122250996	+	IGR	SNP	G	G	T	rs6648942	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:122250996G>T								U3 (276499 upstream) : GRIA3 (67009 downstream)																							TAAAGAGTATGTGGCCTTGTT	0.468													T|||	2076	0.549934	0.3631	0.4769	3775	,	,		16291	0.5635		0.2008	False		,,,				2504	0.5061					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															X.37:g.122250996G>T				Missense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.T205K		37	c.614		X	808	0.487040385774563	122	0.3193717277486911	98	0.3656716417910448	217	0.5896739130434783	119	0.1803030303030303	T	6.412	0.444056	0.12164	.	.	ENSG00000224236	ENST00000435941	.	.	.	1.49	1.49	0.22878	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	.	.	.	0.58432	P	6.999999999979245E-6	.	.	.	.	.	.	T	0.46345	-0.9198	5	0.02654	T	1	-1.3317	5.4932	0.16787	0.0:0.0:0.2846:0.7154	rs6648942;rs16997095;rs52801655;rs56738867;rs6648942	.	.	.	K	205	.	ENSP00000387841:T205K	T	-	2	0	MRRFP1	122078677	1.000000	0.71417	0.164000	0.22755	0.098000	0.18820	2.795000	0.47861	-0.130000	0.11599	-1.794000	0.00625	ACA	MRRFP1	-	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	ENSG00000224236	0	0.468					MRRFP1	HGNC			83	0.00	0	G			122250996	122250996	-1	no_errors	ENST00000435941	ensembl	human	known	69_37n	missense	0	100.00	102	SNP	0.998	T
MSANTD4	84437	genome.wustl.edu	37	11	105881234	105881234	+	Silent	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:105881234G>C	ENST00000301919.4	-	2	1826	c.411C>G	c.(409-411)tcC>tcG	p.S137S	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	137						nucleus (GO:0005634)											CCTCAGTTAAGGATCCACCTG	0.418																																						dbGAP											0													133.0	135.0	134.0					11																	105881234		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.411C>G	11.37:g.105881234G>C			Q96JK1|Q96JZ3|Q9H2N4	Silent	SNP	NULL	p.S137	ENST00000301919.4	37	c.411	CCDS31663.1	11																																																																																			MSANTD4	-	NULL	ENSG00000170903		0.418	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	58	0.00	0	G	NM_032424		105881234	105881234	-1	no_errors	ENST00000301919	ensembl	human	known	69_37n	silent	50	64.79	92	SNP	0.998	C
MSH3	4437	genome.wustl.edu	37	5	79961077	79961077	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:79961077G>T	ENST00000265081.6	+	3	554	c.474G>T	c.(472-474)gaG>gaT	p.E158D		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	158	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)		CTCTGCAGGAGAGATTTGCAG	0.398								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													66.0	67.0	67.0					5																	79961077		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.474G>T	5.37:g.79961077G>T	ENSP00000265081:p.Glu158Asp		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.E158D	ENST00000265081.6	37	c.474	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806743	0.31961	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87179	-2.22	5.62	5.62	0.85841	.	0.615971	0.16168	N	0.226456	T	0.80391	0.4614	L	0.42245	1.32	0.09310	N	0.999997	B	0.32245	0.361	B	0.24541	0.054	T	0.69989	-0.4995	9	.	.	.	-3.761	10.6257	0.45506	0.0871:0.0:0.9129:0.0	.	158	P20585	MSH3_HUMAN	D	158;149	ENSP00000265081:E158D	.	E	+	3	2	MSH3	79996833	0.453000	0.25721	0.261000	0.24466	0.323000	0.28346	3.180000	0.50895	2.640000	0.89533	0.591000	0.81541	GAG	MSH3	-	NULL	ENSG00000113318		0.398	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	77	0.00	0	G	NM_002439		79961077	79961077	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	missense	75	40.94	52	SNP	0.297	T
MST1L	11223	genome.wustl.edu	37	1	17084152	17084152	+	RNA	SNP	C	C	T	rs202123117	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:17084152C>T	ENST00000455405.2	-	0	560							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ATTACCCGTACCTGCAGTGAG	0.562													.|||	138	0.0275559	0.0023	0.0288	5008	,	,		80178	0.0159		0.0517	False		,,,				2504	0.0481					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.17084152C>T			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.G590D	ENST00000455405.2	37	c.1769		1	.	.	.	.	.	.	.	.	.	.	.	10.17	1.277638	0.23307	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.335271	0.21488	N	0.073725	T	0.63581	0.2523	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.67150	-0.5743	6	0.36615	T	0.2	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	.	590;616	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	D	590;616	.	ENSP00000439273:G590D	G	-	2	0	MST1P9	16956739	0.996000	0.38824	0.190000	0.23270	0.000000	0.00434	2.021000	0.41020	0.502000	0.28037	0.000000	0.15137	GGT	MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.562	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	91	0.00	0	C	NM_001271733		17084152	17084152	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	74	26.73	27	SNP	1.000	T
MST1L	11223	genome.wustl.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs11260921	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:17084510G>A	ENST00000455405.2	-	0	379							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577																																						dbGAP											4	Substitution - coding silent(4)	endometrium(2)|kidney(2)																																								-	-	-			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.17084510G>A			B7WPB1|Q13209	Silent	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.L530	ENST00000455405.2	37	c.1588		1																																																																																			MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.577	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	52	0.00	0	G	NM_001271733		17084510	17084510	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	59	10.61	7	SNP	0.962	A
MTMR3	8897	genome.wustl.edu	37	22	30416460	30416460	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:30416460G>T	ENST00000401950.2	+	17	3154	c.2812G>T	c.(2812-2814)Gcc>Tcc	p.A938S	MTMR3_ENST00000351488.3_Missense_Mutation_p.A938S|MTMR3_ENST00000323630.5_Missense_Mutation_p.A802S|MTMR3_ENST00000406629.1_Missense_Mutation_p.A938S|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.A938S	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGAAAACAGGGCCTCAGAGCA	0.582																																						dbGAP											0													80.0	74.0	76.0					22																	30416460		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2812G>T	22.37:g.30416460G>T	ENSP00000384651:p.Ala938Ser		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A938S	ENST00000401950.2	37	c.2812	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806743	0.50421	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94138	-3.16;-3.16;-3.36;-3.21;-3.16	5.04	4.03	0.46877	.	0.574782	0.18857	N	0.129233	D	0.85665	0.5749	N	0.24115	0.695	0.28140	N	0.929845	P;P;P	0.46395	0.571;0.877;0.873	B;B;B	0.43251	0.288;0.411;0.413	T	0.77432	-0.2590	10	0.17832	T	0.49	.	4.9282	0.13903	0.2437:0.1587:0.5976:0.0	.	938;938;938	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	S	938;938;802;938;938	ENSP00000384651:A938S;ENSP00000331649:A938S;ENSP00000318070:A802S;ENSP00000307271:A938S;ENSP00000384077:A938S	ENSP00000318070:A802S	A	+	1	0	MTMR3	28746460	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.988000	0.29616	1.259000	0.44117	0.655000	0.94253	GCC	MTMR3	-	NULL	ENSG00000100330		0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	26	0.00	0	G	NM_021090		30416460	30416460	+1	no_errors	ENST00000401950	ensembl	human	known	69_37n	missense	11	54.17	13	SNP	0.980	T
MTPAP	55149	genome.wustl.edu	37	10	30653319	30653319	+	Intron	SNP	T	T	G	rs2255854	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:30653319T>G	ENST00000488290.1	-	9	1912				MTPAP_ENST00000358107.4_Intron|AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTCTTCTTTTTTAATTTCTT	0.378													.|||	894	0.178514	0.112	0.1066	5008	,	,		18029	0.1647		0.2316	False		,,,				2504	0.2791					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000488290.1:c.2191+315A>C	10.37:g.30653319T>G			D3DRX0|Q659E3|Q6P7E5|Q9HA74	RNA	SNP	-	NULL	ENST00000488290.1	37	NULL		10																																																																																			MTPAP	-	-	ENSG00000107951		0.378	MTPAP-002	KNOWN	basic	processed_transcript	MTPAP	HGNC	protein_coding	OTTHUMT00000047427.1	19	0.00	0	T	NM_018109		30653319	30653319	-1	no_errors	ENST00000471055	ensembl	human	known	69_37n	rna	29	39.58	19	SNP	0.034	G
MUC12	10071	genome.wustl.edu	37	7	100634964	100634964	+	Missense_Mutation	SNP	C	C	A	rs4370452	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100634964C>A	ENST00000379442.3	+	5	1549	c.1549C>A	c.(1549-1551)Cct>Act	p.P517T	MUC12_ENST00000536621.1_Missense_Mutation_p.P374T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	517	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)		p.P374T(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AATGCACTTCCCTGAAAGCTC	0.537													c|||	2356	0.470447	0.3449	0.3703	5008	,	,		27699	0.6111		0.5139	False		,,,				2504	0.5215					dbGAP											1	Substitution - Missense(1)	stomach(1)											257.0	271.0	267.0					7																	100634964		692	1591	2283	-	-	-	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.1549C>A	7.37:g.100634964C>A	ENSP00000368755:p.Pro517Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P517T	ENST00000379442.3	37	c.1549		7	1071	0.49038461538461536	193	0.39227642276422764	148	0.4088397790055249	332	0.5804195804195804	398	0.525065963060686	C	1.470	-0.559990	0.03967	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14893	2.48;2.47	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.38735	-0.9647	5	0.21014	T	0.42	.	4.7077	0.12858	0.3536:0.6463:0.0:1.0E-4	rs4370452	.	.	.	T	517;374	ENSP00000368755:P517T;ENSP00000441929:P374T	ENSP00000368755:P517T	P	+	1	0	MUC12	100421684	0.000000	0.05858	0.005000	0.12908	0.102000	0.19082	-1.429000	0.02437	-0.833000	0.04245	0.064000	0.15345	CCT	MUC12	-	NULL	ENSG00000205277		0.537	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	512	0.00	0	C	XM_379904		100634964	100634964	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	0	100.00	462	SNP	0.107	A
MUC12	10071	genome.wustl.edu	37	7	100636170	100636170	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100636170G>A	ENST00000379442.3	+	5	2755	c.2755G>A	c.(2755-2757)Gca>Aca	p.A919T	MUC12_ENST00000536621.1_Missense_Mutation_p.A776T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	919	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						CAGCCAAGACGCAACGGGAAC	0.552																																						dbGAP											0													222.0	268.0	254.0					7																	100636170		692	1586	2278	-	-	-	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.2755G>A	7.37:g.100636170G>A	ENSP00000368755:p.Ala919Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.A919T	ENST00000379442.3	37	c.2755		7	.	.	.	.	.	.	.	.	.	.	-	2.762	-0.257731	0.05791	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12774	2.65;2.65	0.481	-0.69	0.11309	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43734	-0.9373	6	0.10902	T	0.67	.	.	.	.	.	.	.	.	T	919;776	ENSP00000368755:A919T;ENSP00000441929:A776T	ENSP00000368755:A919T	A	+	1	0	MUC12	100422890	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-1.664000	0.01966	-0.357000	0.08175	0.184000	0.17185	GCA	MUC12	-	NULL	ENSG00000205277		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	402	0.25	1	G	XM_379904		100636170	100636170	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	399	19.88	99	SNP	0.017	A
MUC12	10071	genome.wustl.edu	37	7	100636960	100636960	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100636960C>T	ENST00000379442.3	+	5	3545	c.3545C>T	c.(3544-3546)aCt>aTt	p.T1182I	MUC12_ENST00000536621.1_Missense_Mutation_p.T1039I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1182	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						AGCTCCACAACTTCGGGCCAC	0.547																																						dbGAP											0													5.0	7.0	7.0					7																	100636960		382	937	1319	-	-	-	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.3545C>T	7.37:g.100636960C>T	ENSP00000368755:p.Thr1182Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.T1182I	ENST00000379442.3	37	c.3545		7	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.733438	0.00687	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11821	2.74;2.74	0.109	-0.218	0.13142	.	.	.	.	.	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.35176	-0.9799	6	0.36615	T	0.2	.	.	.	.	.	.	.	.	I	1182;1039	ENSP00000368755:T1182I;ENSP00000441929:T1039I	ENSP00000368755:T1182I	T	+	2	0	MUC12	100423680	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.319000	0.19522	-1.275000	0.02417	-1.271000	0.01417	ACT	MUC12	-	NULL	ENSG00000205277		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	99	0.00	0	C	XM_379904		100636960	100636960	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.024	T
MUC12	10071	genome.wustl.edu	37	7	100637073	100637073	+	Missense_Mutation	SNP	C	C	T	rs199836803	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100637073C>T	ENST00000379442.3	+	5	3658	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C	MUC12_ENST00000536621.1_Missense_Mutation_p.R1077C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1220	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						TACAACCTCACGCATCAGTCC	0.512																																						dbGAP											0													8.0	8.0	8.0					7																	100637073		556	1231	1787	-	-	-	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.3658C>T	7.37:g.100637073C>T	ENSP00000368755:p.Arg1220Cys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R1220C	ENST00000379442.3	37	c.3658		7	.	.	.	.	.	.	.	.	.	.	c	0.783	-0.761743	0.02996	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.713	-1.02	0.10135	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.34700	-0.9818	7	0.56958	D	0.05	.	2.7243	0.05209	0.3079:0.3837:0.3084:0.0	.	.	.	.	C	1220;1077	ENSP00000368755:R1220C;ENSP00000441929:R1077C	ENSP00000368755:R1220C	R	+	1	0	MUC12	100423793	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.331000	0.33793	-0.288000	0.09051	0.184000	0.17185	CGC	MUC12	-	NULL	ENSG00000205277		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	67	0.00	0	C	XM_379904		100637073	100637073	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100638484	100638484	+	Missense_Mutation	SNP	A	A	T	rs199794194	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100638484A>T	ENST00000379442.3	+	5	5069	c.5069A>T	c.(5068-5070)aAa>aTa	p.K1690I	MUC12_ENST00000536621.1_Missense_Mutation_p.K1547I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1690	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						CTGAGTGAGAAATCTACCACC	0.532																																						dbGAP											0																																										-	-	-	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.5069A>T	7.37:g.100638484A>T	ENSP00000368755:p.Lys1690Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.K1690I	ENST00000379442.3	37	c.5069		7	.	.	.	.	.	.	.	.	.	.	a	2.371	-0.344380	0.05208	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13196	2.61;2.61	0.869	-1.74	0.08056	.	.	.	.	.	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.28299	-1.0048	7	0.36615	T	0.2	.	3.1547	0.06500	0.4539:0.3162:0.2299:0.0	.	.	.	.	I	1690;1547	ENSP00000368755:K1690I;ENSP00000441929:K1547I	ENSP00000368755:K1690I	K	+	2	0	MUC12	100425204	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.010000	0.03656	-2.317000	0.00644	-1.341000	0.01249	AAA	MUC12	-	NULL	ENSG00000205277		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	63	0.00	0	A	XM_379904		100638484	100638484	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100639177	100639177	+	Missense_Mutation	SNP	C	C	T	rs200375956	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100639177C>T	ENST00000379442.3	+	5	5762	c.5762C>T	c.(5761-5763)tCa>tTa	p.S1921L	MUC12_ENST00000536621.1_Missense_Mutation_p.S1778L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1921	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						AGCCCGGGCTCAACTCAAACA	0.537													-|||	2292	0.457668	0.3177	0.3617	5008	,	,		10232	0.6052		0.506	False		,,,				2504	0.5133					dbGAP											0													3.0	2.0	2.0					7																	100639177		599	1362	1961	-	-	-	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.5762C>T	7.37:g.100639177C>T	ENSP00000368755:p.Ser1921Leu		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S1921L	ENST00000379442.3	37	c.5762		7	.	.	.	.	.	.	.	.	.	.	-	4.445	0.082344	0.08533	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	1.22	1.22	0.21188	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.23691	-1.0181	6	0.44086	T	0.13	.	5.8452	0.18661	0.0:1.0:0.0:0.0	.	.	.	.	L	1921;1778	ENSP00000368755:S1921L;ENSP00000441929:S1778L	ENSP00000368755:S1921L	S	+	2	0	MUC12	100425897	0.003000	0.15002	0.003000	0.11579	0.014000	0.08584	1.032000	0.30178	0.989000	0.38761	0.173000	0.16961	TCA	MUC12	-	NULL	ENSG00000205277		0.537	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	33	0.00	0	C	XM_379904		100639177	100639177	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	2	90.48	19	SNP	0.004	T
MUC12	10071	genome.wustl.edu	37	7	100641744	100641744	+	Missense_Mutation	SNP	C	C	T	rs200229903	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100641744C>T	ENST00000379442.3	+	5	8329	c.8329C>T	c.(8329-8331)Cgc>Tgc	p.R2777C	MUC12_ENST00000536621.1_Missense_Mutation_p.R2634C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2777	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						TACAACCTCACGCATCAGTCC	0.512																																						dbGAP											0													1.0	1.0	1.0					7																	100641744		260	658	918	-	-	-	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.8329C>T	7.37:g.100641744C>T	ENSP00000368755:p.Arg2777Cys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2777C	ENST00000379442.3	37	c.8329		7	.	.	.	.	.	.	.	.	.	.	c	4.609	0.113111	0.08831	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.704	-1.11	0.09840	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36792	-0.9733	6	0.49607	T	0.09	.	.	.	.	.	.	.	.	C	2777;2634	ENSP00000368755:R2777C;ENSP00000441929:R2634C	ENSP00000368755:R2777C	R	+	1	0	MUC12	100428464	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.334000	0.33827	-0.301000	0.08882	0.173000	0.16961	CGC	MUC12	-	NULL	ENSG00000205277		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	19	0.00	0	C	XM_379904		100641744	100641744	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100641913	100641913	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100641913G>A	ENST00000379442.3	+	5	8498	c.8498G>A	c.(8497-8499)cGt>cAt	p.R2833H	MUC12_ENST00000536621.1_Missense_Mutation_p.R2690H			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2833	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						ACCACCTCCCGTAGCCAACCA	0.577																																						dbGAP											0													25.0	26.0	26.0					7																	100641913		692	1578	2270	-	-	-	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.8498G>A	7.37:g.100641913G>A	ENSP00000368755:p.Arg2833His		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2833H	ENST00000379442.3	37	c.8498		7	.	.	.	.	.	.	.	.	.	.	-	2.000	-0.429617	0.04701	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13657	2.57;2.57	0.481	-0.961	0.10337	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.38824	-0.9643	6	0.14656	T	0.56	.	.	.	.	.	.	.	.	H	2833;2690	ENSP00000368755:R2833H;ENSP00000441929:R2690H	ENSP00000368755:R2833H	R	+	2	0	MUC12	100428633	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-1.007000	0.03667	-1.835000	0.01191	-1.169000	0.01745	CGT	MUC12	-	NULL	ENSG00000205277		0.577	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	110	0.00	0	G	XM_379904		100641913	100641913	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	156	13.33	24	SNP	0.001	A
MUC12	10071	genome.wustl.edu	37	7	100643155	100643155	+	Missense_Mutation	SNP	A	A	T	rs199601905	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100643155A>T	ENST00000379442.3	+	5	9740	c.9740A>T	c.(9739-9741)aAa>aTa	p.K3247I	MUC12_ENST00000536621.1_Missense_Mutation_p.K3104I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3247	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						CTGAGTGAGAAATCTACCACC	0.532																																						dbGAP											0													3.0	4.0	4.0					7																	100643155		642	1461	2103	-	-	-	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.9740A>T	7.37:g.100643155A>T	ENSP00000368755:p.Lys3247Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.K3247I	ENST00000379442.3	37	c.9740		7	.	.	.	.	.	.	.	.	.	.	A	6.096	0.385972	0.11524	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13196	2.61;2.61	0.86	-1.72	0.08107	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.34775	-0.9815	7	0.38643	T	0.18	.	2.3687	0.04325	0.2892:0.3217:0.3891:0.0	.	.	.	.	I	3247;3104	ENSP00000368755:K3247I;ENSP00000441929:K3104I	ENSP00000368755:K3247I	K	+	2	0	MUC12	100429875	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.253000	0.02877	-0.939000	0.03709	0.155000	0.16302	AAA	MUC12	-	NULL	ENSG00000205277		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	271	0.36	1	A	XM_379904		100643155	100643155	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100643477	100643477	+	Silent	SNP	A	A	C	rs75096265	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100643477A>C	ENST00000379442.3	+	5	10062	c.10062A>C	c.(10060-10062)tcA>tcC	p.S3354S	MUC12_ENST00000536621.1_Silent_p.S3211S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3354	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						CCACAGCCTCAGGCCTCCTTG	0.567																																						dbGAP											0													249.0	348.0	318.0					7																	100643477		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	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.10062A>C	7.37:g.100643477A>C			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.S3354	ENST00000379442.3	37	c.10062		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.567	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	1949	0.05	1	A	XM_379904		100643477	100643477	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	1118	22.52	325	SNP	0.004	C
MUC12	10071	genome.wustl.edu	37	7	100643876	100643876	+	Silent	SNP	C	C	T	rs55930823		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100643876C>T	ENST00000379442.3	+	5	10461	c.10461C>T	c.(10459-10461)agC>agT	p.S3487S	MUC12_ENST00000536621.1_Silent_p.S3344S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3487	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						TCCCTGAAAGCGACACAACTT	0.537																																						dbGAP											0													3.0	4.0	4.0					7																	100643876		594	1436	2030	-	-	-	SO:0001819	synonymous_variant	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.10461C>T	7.37:g.100643876C>T			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.S3487	ENST00000379442.3	37	c.10461		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.537	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	234	0.43	1	C	XM_379904		100643876	100643876	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	112	18.84	26	SNP	0.008	T
MUC12	10071	genome.wustl.edu	37	7	100643959	100643959	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100643959C>T	ENST00000379442.3	+	5	10544	c.10544C>T	c.(10543-10545)aCa>aTa	p.T3515I	MUC12_ENST00000536621.1_Missense_Mutation_p.T3372I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3515	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						CCTAGCACCACATCTGCCCTT	0.527																																						dbGAP											0																																										-	-	-	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.10544C>T	7.37:g.100643959C>T	ENSP00000368755:p.Thr3515Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.T3515I	ENST00000379442.3	37	c.10544		7	.	.	.	.	.	.	.	.	.	.	c	0.248	-1.008338	0.02112	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11821	2.74;2.74	.	.	.	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.38693	-0.9649	5	0.39692	T	0.17	.	.	.	.	.	.	.	.	I	3515;3372	ENSP00000368755:T3515I;ENSP00000441929:T3372I	ENSP00000368755:T3515I	T	+	2	0	MUC12	100430679	0.006000	0.16342	0.013000	0.15412	0.013000	0.08279	0.319000	0.19522	0.159000	0.19401	0.162000	0.16502	ACA	MUC12	-	NULL	ENSG00000205277		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	53	0.00	0	C	XM_379904		100643959	100643959	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.013	T
MUC12	10071	genome.wustl.edu	37	7	100645731	100645731	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100645731G>A	ENST00000379442.3	+	5	12316	c.12316G>A	c.(12316-12318)Gaa>Aaa	p.E4106K	MUC12_ENST00000536621.1_Missense_Mutation_p.E3963K			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4106	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						AGGCGTCAGCGAAGAATCCAG	0.537																																						dbGAP											0													42.0	112.0	91.0					7																	100645731		672	1552	2224	-	-	-	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.12316G>A	7.37:g.100645731G>A	ENSP00000368755:p.Glu4106Lys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.E4106K	ENST00000379442.3	37	c.12316		7	.	.	.	.	.	.	.	.	.	.	-	5.657	0.305781	0.10733	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.713	0.713	0.18173	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42292	-0.9460	7	0.14252	T	0.57	.	3.0706	0.06229	0.3321:0.0:0.6678:0.0	.	.	.	.	K	4106;3963	ENSP00000368755:E4106K;ENSP00000441929:E3963K	ENSP00000368755:E4106K	E	+	1	0	MUC12	100432451	0.000000	0.05858	0.013000	0.15412	0.184000	0.23303	-0.349000	0.07731	0.673000	0.31224	0.184000	0.17185	GAA	MUC12	-	NULL	ENSG00000205277		0.537	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	1537	0.13	2	G	XM_379904		100645731	100645731	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	993	13.40	154	SNP	0.143	A
MUC12	10071	genome.wustl.edu	37	7	100647338	100647339	+	Missense_Mutation	DNP	CG	CG	AA	rs200522765|rs199551523	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100647338_100647339CG>AA	ENST00000379442.3	+	5	13923_13924	c.13923_13924CG>AA	c.(13921-13926)gaCGca>gaAAca	p.4641_4642DA>ET	MUC12_ENST00000536621.1_Missense_Mutation_p.4498_4499DA>ET			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4641	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						GCAGCCAAGACGCAACGGGAAC	0.55																																						dbGAP											0																																										-	-	-	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	Exception_encountered	7.37:g.100647338_100647339delinsAA	ENSP00000368755:p.D4641_A4642delinsET		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.D4641E|p.A4642T	ENST00000379442.3	37	c.13923|c.13924		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.550	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	8|9	0.00	0	C|G	XM_379904		100647338|100647339	100647338|100647339	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	0	100.00	71|69	SNP	0.058|0.036	A
MUC12	10071	genome.wustl.edu	37	7	100647652	100647652	+	Missense_Mutation	SNP	C	C	T	rs111660528	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100647652C>T	ENST00000379442.3	+	5	14237	c.14237C>T	c.(14236-14238)aCg>aTg	p.T4746M	MUC12_ENST00000536621.1_Missense_Mutation_p.T4603M			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4746	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)		p.T4603M(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAAGAATCTACGGCGTACCAC	0.552													-|||	2344	0.468051	0.3411	0.3646	5008	,	,		9440	0.6081		0.5139	False		,,,				2504	0.5215					dbGAP											1	Substitution - Missense(1)	stomach(1)											11.0	9.0	10.0					7																	100647652		691	1543	2234	-	-	-	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.14237C>T	7.37:g.100647652C>T	ENSP00000368755:p.Thr4746Met		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.T4746M	ENST00000379442.3	37	c.14237		7	1003	0.4592490842490842	195	0.39634146341463417	131	0.36187845303867405	327	0.5716783216783217	350	0.46174142480211083	-	0.573	-0.840319	0.02692	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12255	2.7;2.7	0.851	-0.418	0.12344	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.33523	-0.9865	6	0.56958	D	0.05	.	2.9267	0.05786	0.3031:0.3947:0.3022:0.0	.	.	.	.	M	4746;4603	ENSP00000368755:T4746M;ENSP00000441929:T4603M	ENSP00000368755:T4746M	T	+	2	0	MUC12	100434372	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.169000	0.09911	-0.095000	0.12351	0.064000	0.15345	ACG	MUC12	-	NULL	ENSG00000205277		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	60	0.00	0	C	XM_379904		100647652	100647652	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	1	98.28	57	SNP	0.001	T
MUC12	10071	genome.wustl.edu	37	7	100647659	100647659	+	Silent	SNP	C	C	T	rs139638547	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100647659C>T	ENST00000379442.3	+	5	14244	c.14244C>T	c.(14242-14244)taC>taT	p.Y4748Y	MUC12_ENST00000536621.1_Silent_p.Y4605Y			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4748	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						CTACGGCGTACCACAGCAGCC	0.547													-|||	783	0.15635	0.0212	0.1311	5008	,	,		9663	0.1577		0.2336	False		,,,				2504	0.2761					dbGAP											0													19.0	15.0	16.0					7																	100647659		692	1573	2265	-	-	-	SO:0001819	synonymous_variant	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.14244C>T	7.37:g.100647659C>T			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.Y4748	ENST00000379442.3	37	c.14244		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	65	0.00	0	C	XM_379904		100647659	100647659	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	37	39.34	24	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100647676	100647676	+	Missense_Mutation	SNP	C	C	T	rs113138639	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100647676C>T	ENST00000379442.3	+	5	14261	c.14261C>T	c.(14260-14262)tCa>tTa	p.S4754L	MUC12_ENST00000536621.1_Missense_Mutation_p.S4611L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4754	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						AGCCCGGGCTCAACTCAAACA	0.537													-|||	2333	0.465855	0.3411	0.3646	5008	,	,		10514	0.6052		0.5129	False		,,,				2504	0.5143					dbGAP											0													31.0	26.0	28.0					7																	100647676		692	1573	2265	-	-	-	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.14261C>T	7.37:g.100647676C>T	ENSP00000368755:p.Ser4754Leu		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S4754L	ENST00000379442.3	37	c.14261		7	.	.	.	.	.	.	.	.	.	.	-	4.583	0.108398	0.08780	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.851	0.851	0.18989	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.28933	-1.0028	6	0.38643	T	0.18	.	7.6836	0.28528	0.0:1.0:0.0:0.0	.	.	.	.	L	4754;4611	ENSP00000368755:S4754L;ENSP00000441929:S4611L	ENSP00000368755:S4754L	S	+	2	0	MUC12	100434396	0.002000	0.14202	0.007000	0.13788	0.115000	0.19883	0.541000	0.23207	0.800000	0.34041	0.064000	0.15345	TCA	MUC12	-	NULL	ENSG00000205277		0.537	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	72	0.00	0	C	XM_379904		100647676	100647676	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	0	100.00	83	SNP	0.062	T
MUC12	10071	genome.wustl.edu	37	7	100647819	100647819	+	Missense_Mutation	SNP	C	C	T	rs11766024	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100647819C>T	ENST00000379442.3	+	5	14404	c.14404C>T	c.(14404-14406)Cac>Tac	p.H4802Y	MUC12_ENST00000536621.1_Missense_Mutation_p.H4659Y			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4802	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)		p.H4659Y(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TACCAGCTACCACAGCAGCCC	0.517													-|||	1939	0.387181	0.1377	0.3213	5008	,	,		16279	0.5794		0.4473	False		,,,				2504	0.5112					dbGAP											1	Substitution - Missense(1)	stomach(1)											194.0	178.0	183.0					7																	100647819		692	1591	2283	-	-	-	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.14404C>T	7.37:g.100647819C>T	ENSP00000368755:p.His4802Tyr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.H4802Y	ENST00000379442.3	37	c.14404		7	858	0.39285714285714285	73	0.1483739837398374	126	0.34806629834254144	314	0.548951048951049	345	0.4551451187335092	c	0.010	-1.749812	0.00669	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12039	2.72;2.72	0.735	-0.525	0.11917	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.47142	-0.9140	5	0.02654	T	1	.	.	.	.	rs11766024	.	.	.	Y	4802;4659	ENSP00000368755:H4802Y;ENSP00000441929:H4659Y	ENSP00000368755:H4802Y	H	+	1	0	MUC12	100434539	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.503000	0.06383	-1.868000	0.01142	-1.450000	0.01041	CAC	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	441	0.00	0	C	XM_379904		100647819	100647819	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	0	100.00	323	SNP	0.002	T
MUC20P1	651714	genome.wustl.edu	37	3	195346621	195346621	+	IGR	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195346621C>T								APOD (35545 upstream) : RP11-141C7.4 (20239 downstream)																							CCTGATGCCACGATTGGGACC	0.602																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															3.37:g.195346621C>T				Missense_Mutation	SNP	NULL	p.T308M		37	c.923		3	.	.	.	.	.	.	.	.	.	.	.	10.39	1.336756	0.24253	.	.	ENSG00000176945	ENST00000381954	.	.	.	0.705	0.705	0.18127	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38222	-0.9671	5	0.87932	D	0	.	4.8054	0.13317	0.0:1.0:0.0:0.0	.	.	.	.	M	308	.	ENSP00000371380:T308M	T	+	2	0	MUC20	196827910	0.023000	0.18921	0.005000	0.12908	0.111000	0.19643	1.331000	0.33793	0.680000	0.31366	0.152000	0.16155	ACG	MUC20	-	NULL	ENSG00000176945	0	0.602					MUC20	HGNC			109	0.00	0	C			195346621	195346621	+1	no_errors	ENST00000381954	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	0.005	T
MUC4	4585	genome.wustl.edu	37	3	195506446	195506446	+	Missense_Mutation	SNP	G	G	T	rs545270545|rs62282468	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195506446G>T	ENST00000463781.3	-	2	12464	c.12005C>A	c.(12004-12006)cCt>cAt	p.P4002H	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4002H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.602													.|||	1028	0.205272	0.2935	0.1729	5008	,	,		9512	0.0724		0.2654	False		,,,				2504	0.184					dbGAP											0													16.0	13.0	14.0					3																	195506446		664	1492	2156	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12005C>A	3.37:g.195506446G>T	ENSP00000417498:p.Pro4002His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.P4002H	ENST00000463781.3	37	c.12005	CCDS54700.1	3	219	0.10027472527472528	55	0.11178861788617886	35	0.09668508287292818	34	0.05944055944055944	95	0.12532981530343007	g	3.476	-0.106992	0.06924	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35605	1.46;1.3	0.764	0.764	0.18465	.	0.000000	0.25881	U	0.027698	T	0.00384	0.0012	N	0.19112	0.55	0.80722	P	0.0	D	0.61080	0.989	D	0.73380	0.98	T	0.04664	-1.0935	8	.	.	.	.	7.4763	0.27378	1.0E-4:0.0:0.9999:0.0	rs62282468	3874	E7ESK3	.	H	4002	ENSP00000417498:P4002H;ENSP00000420243:P4002H	.	P	-	2	0	MUC4	196991225	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.577000	0.05847	0.724000	0.32296	0.064000	0.15345	CCT	MUC4	-	NULL	ENSG00000145113		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	143	0.68	1	G	NM_018406		195506446	195506446	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	12	69.23	27	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195506760	195506760	+	Silent	SNP	T	T	A	rs62282473	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195506760T>A	ENST00000463781.3	-	2	12150	c.11691A>T	c.(11689-11691)gcA>gcT	p.A3897A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.A3897A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACGTGTGGATGCTGAGGAAG	0.592													.|||	492	0.0982428	0.0166	0.0994	5008	,	,		8412	0.0526		0.2008	False		,,,				2504	0.1493					dbGAP											0													9.0	8.0	8.0					3																	195506760		534	1118	1652	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11691A>T	3.37:g.195506760T>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A3897	ENST00000463781.3	37	c.11691	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	156	0.00	0	T	NM_018406		195506760	195506760	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	10	47.37	9	SNP	0.455	A
MUC4	4585	genome.wustl.edu	37	3	195509212	195509212	+	Missense_Mutation	SNP	G	G	A	rs200749420		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195509212G>A	ENST00000463781.3	-	2	9698	c.9239C>T	c.(9238-9240)tCa>tTa	p.S3080L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3080L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGTGTC	0.597																																						dbGAP											0													12.0	10.0	10.0					3																	195509212		659	1537	2196	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9239C>T	3.37:g.195509212G>A	ENSP00000417498:p.Ser3080Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S3080L	ENST00000463781.3	37	c.9239	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	7.190	0.591379	0.13812	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.37;1.43	.	.	.	.	.	.	.	.	T	0.19087	0.0458	N	0.19112	0.55	0.80722	P	0.0	B	0.13145	0.007	B	0.06405	0.002	T	0.24799	-1.0150	6	.	.	.	.	5.4195	0.16392	0.0:0.0:1.0:0.0	.	2952	E7ESK3	.	L	3080	ENSP00000417498:S3080L;ENSP00000420243:S3080L	.	S	-	2	0	MUC4	196993991	0.013000	0.17824	0.004000	0.12327	0.000000	0.00434	1.082000	0.30803	0.497000	0.27926	0.000000	0.15137	TCA	MUC4	-	NULL	ENSG00000145113		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	1375	0.00	0	G	NM_018406		195509212	195509212	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	62	27.06	23	SNP	0.002	A
MUC4	4585	genome.wustl.edu	37	3	195513365	195513365	+	Missense_Mutation	SNP	G	G	A	rs62282501	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195513365G>A	ENST00000463781.3	-	2	5545	c.5086C>T	c.(5086-5088)Cgt>Tgt	p.R1696C	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R1696C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGACGGGTGGTGTCA	0.602													.|||	681	0.135982	0.118	0.1758	5008	,	,		25005	0.0476		0.2127	False		,,,				2504	0.1442					dbGAP											0													40.0	43.0	42.0					3																	195513365		689	1582	2271	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5086C>T	3.37:g.195513365G>A	ENSP00000417498:p.Arg1696Cys		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.R1696C	ENST00000463781.3	37	c.5086	CCDS54700.1	3	273	0.125	36	0.07317073170731707	56	0.15469613259668508	36	0.06293706293706294	145	0.19129287598944592	-	4.772	0.143509	0.09134	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.43;1.43	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.19112	0.55	0.80722	P	0.0	B	0.12013	0.005	B	0.01281	0.0	T	0.35674	-0.9779	6	.	.	.	.	2.8509	0.05558	3.0E-4:2.0E-4:0.5024:0.497	.	1696	E7ESK3	.	C	1696	ENSP00000417498:R1696C;ENSP00000420243:R1696C	.	R	-	1	0	MUC4	196997760	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	0.009000	0.13219	0.088000	0.17205	0.089000	0.15464	CGT	MUC4	-	NULL	ENSG00000145113		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	922	0.00	0	G	NM_018406		195513365	195513365	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	63	39.05	41	SNP	0.019	A
MUC6	4588	genome.wustl.edu	37	11	1017655	1017655	+	Missense_Mutation	SNP	G	G	A	rs201234174	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:1017655G>A	ENST00000421673.2	-	31	5196	c.5146C>T	c.(5146-5148)Ccc>Tcc	p.P1716S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1716	Approximate repeats.|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)		GTGGGGTTGGGGGTGATGTTG	0.522																																						dbGAP											0													594.0	586.0	589.0					11																	1017655		2196	4282	6478	-	-	-	SO:0001583	missense	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.5146C>T	11.37:g.1017655G>A	ENSP00000406861:p.Pro1716Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_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.P1716S	ENST00000421673.2	37	c.5146	CCDS44513.1	11	215	0.09844322344322344	14	0.028455284552845527	27	0.07458563535911603	95	0.1660839160839161	79	0.10422163588390501	G	0.944	-0.708582	0.03230	.	.	ENSG00000184956	ENST00000421673	T	0.18502	2.21	1.58	-1.6	0.08426	.	.	.	.	.	T	0.00039	0.0001	L	0.58101	1.795	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40905	-0.9538	9	0.15499	T	0.54	.	3.4654	0.07548	0.2732:0.2351:0.4917:0.0	.	1716	Q6W4X9	MUC6_HUMAN	S	1716	ENSP00000406861:P1716S	ENSP00000406861:P1716S	P	-	1	0	MUC6	1007655	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.209000	0.09358	-0.395000	0.07715	0.271000	0.19318	CCC	MUC6	-	NULL	ENSG00000184956		0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	2849	0.24	7	G	XM_290540		1017655	1017655	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	missense	837	15.51	154	SNP	0.000	A
MUSTN1	389125	genome.wustl.edu	37	3	52867220	52867220	+	3'UTR	SNP	G	G	A	rs113621941	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:52867220G>A	ENST00000446157.2	-	0	639				MUSTN1_ENST00000486659.1_3'UTR|ITIH4_ENST00000346281.5_5'Flank|TMEM110-MUSTN1_ENST00000504329.1_3'UTR|RP5-966M1.6_ENST00000513520.1_5'UTR|ITIH4_ENST00000434759.3_5'Flank|ITIH4_ENST00000485816.1_5'Flank|ITIH4_ENST00000266041.4_5'Flank|ITIH4_ENST00000406595.1_5'Flank|RP5-966M1.6_ENST00000468472.1_Silent_p.P78P	NM_205853.3	NP_995325	Q8IVN3	MSTN1_HUMAN	musculoskeletal, embryonic nuclear protein 1							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471)		CTGGACTGTGGGGGAGGGTGG	0.582													G|||	100	0.0199681	0.0015	0.0159	5008	,	,		18288	0.001		0.0557	False		,,,				2504	0.0307					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS46846.1	3p21.31	2004-03-10				ENSG00000272573			22144	protein-coding gene	gene with protein product							Standard	NM_205853		Approved	Mustang		Q8IVN3		ENST00000446157.2:c.*120C>T	3.37:g.52867220G>A				Missense_Mutation	SNP	NULL	p.P41S	ENST00000446157.2	37	c.121	CCDS46846.1	3	48	0.02197802197802198	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	42	0.055408970976253295	G	3.567	-0.088531	0.07097	.	.	ENSG00000243696	ENST00000513520	.	.	.	3.67	-2.91	0.05631	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37174	-0.9717	5	0.87932	D	0	.	8.9513	0.35790	0.6706:0.0:0.3294:0.0	.	.	.	.	S	41	.	ENSP00000421186:P41S	P	-	1	0	MUSTN1	52842260	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	1.753000	0.38359	-0.605000	0.05753	-0.373000	0.07131	CCA	MUSTN1	-	NULL	ENSG00000243696		0.582	MUSTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUSTN1	HGNC	protein_coding	OTTHUMT00000352933.2	10	0.00	0	G	XM_371644		52867220	52867220	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513520	ensembl	human	putative	69_37n	missense	9	52.63	10	SNP	0.000	A
LINC01317	104355287	genome.wustl.edu	37	2	33952508	33952508	+	lincRNA	SNP	A	A	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:33952508A>C	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							ATTGATGAACACGAAGATGAG	0.652																																						dbGAP											0																																										-	-	-			0																															2.37:g.33952508A>C				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.652	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	21	0.00	0	A			33952508	33952508	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	5	50.00	6	SNP	0.998	C
MYBL2	4605	genome.wustl.edu	37	20	42343800	42343800	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:42343800C>T	ENST00000217026.4	+	13	1978	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	MYBL2_ENST00000396863.4_Silent_p.S593S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	617					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAACTCTTCCAGCCTCACCC	0.532																																						dbGAP											0													165.0	171.0	169.0					20																	42343800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1851C>T	20.37:g.42343800C>T			B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S617	ENST00000217026.4	37	c.1851	CCDS13322.1	20																																																																																			MYBL2	-	NULL	ENSG00000101057		0.532	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	58	0.00	0	C	NM_002466		42343800	42343800	+1	no_errors	ENST00000217026	ensembl	human	known	69_37n	silent	39	64.86	72	SNP	0.004	T
MYO1G	64005	genome.wustl.edu	37	7	45006283	45006283	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:45006283C>T	ENST00000258787.7	-	15	2073	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	646	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAGCAGGAATCGAGAGTAGGG	0.617																																						dbGAP											0													61.0	60.0	60.0					7																	45006283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1937G>A	7.37:g.45006283C>T	ENSP00000258787:p.Arg646Gln		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R646Q	ENST00000258787.7	37	c.1937	CCDS34629.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226036	0.79576	.	.	ENSG00000136286	ENST00000258787	T	0.71698	-0.59	4.71	3.82	0.43975	Myosin head, motor domain (2);	0.000000	0.30901	N	0.008644	T	0.72228	0.3434	L	0.31294	0.92	0.49483	D	0.999794	D;D	0.76494	0.998;0.999	D;D	0.71656	0.935;0.974	T	0.72516	-0.4269	10	0.59425	D	0.04	.	8.5916	0.33690	0.0:0.8203:0.0:0.1797	.	646;646	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	Q	646	ENSP00000258787:R646Q	ENSP00000258787:R646Q	R	-	2	0	MYO1G	44972808	0.990000	0.36364	0.670000	0.29842	0.973000	0.67179	2.572000	0.45999	1.090000	0.41315	0.591000	0.81541	CGA	MYO1G	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000136286		0.617	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1G	HGNC	protein_coding	OTTHUMT00000341832.2	10	0.00	0	C			45006283	45006283	-1	no_errors	ENST00000258787	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.996	T
MYOF	26509	genome.wustl.edu	37	10	95191210	95191210	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:95191210C>T	ENST00000359263.4	-	4	299	c.300G>A	c.(298-300)ccG>ccA	p.P100P	MYOF_ENST00000358334.5_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P|MYOF_ENST00000371501.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P|MYOF_ENST00000371502.4_Silent_p.P100P	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	100					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAGCTTGTACGGCAGGGATC	0.468																																						dbGAP											0													91.0	88.0	89.0					10																	95191210		1957	4164	6121	-	-	-	SO:0001819	synonymous_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.300G>A	10.37:g.95191210C>T			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.P100	ENST00000359263.4	37	c.300	CCDS41551.1	10																																																																																			MYOF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000138119		0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	156	0.00	0	C	NM_013451		95191210	95191210	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	silent	92	32.85	45	SNP	0.072	T
NACAD	23148	genome.wustl.edu	37	7	45123739	45123739	+	Silent	SNP	G	G	A	rs375072155	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:45123739G>A	ENST00000490531.2	-	2	2059	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	680					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GTGTCATAGCGGAGTCCTGGG	0.617													G|||	174	0.0347444	0.059	0.0231	5008	,	,		25404	0.0109		0.0358	False		,,,				2504	0.0337					dbGAP											0													1.0	2.0	1.0					7																	45123739		129	524	653	-	-	-	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.2040C>T	7.37:g.45123739G>A				Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.S680	ENST00000490531.2	37	c.2040	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.617	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	21	0.00	0	G	NM_001146334		45123739	45123739	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	silent	3	57.14	4	SNP	0.002	A
NBPF1	55672	genome.wustl.edu	37	1	16912063	16912063	+	Missense_Mutation	SNP	T	T	A	rs200576956		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:16912063T>A	ENST00000430580.2	-	12	1796	c.909A>T	c.(907-909)aaA>aaT	p.K303N		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	303						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAACTGCTGTTTCTTCTCTG	0.468																																						dbGAP											0													23.0	22.0	22.0					1																	16912063		1058	2341	3399	-	-	-	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.909A>T	1.37:g.16912063T>A	ENSP00000474456:p.Lys303Asn		Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.468	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	51	0.00	0	T	NM_017940		16912063	16912063	-1	no_errors	ENST00000392963	ensembl	human	known	69_37n	rna	32	11.11	4	SNP	0.026	A
NBPF10	100132406	genome.wustl.edu	37	1	145293420	145293420	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:145293420C>T	ENST00000369339.3	+	3	268	c.15C>T	c.(13-15)gcC>gcT	p.A5A	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.A5A			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	276						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGTATCAGCCGGCCCTTGGT	0.493																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.15C>T	1.37:g.145293420C>T			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.A5	ENST00000369339.3	37	c.15		1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.493	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	155	0.00	0	C	NM_001039703		145293420	145293420	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	silent	210	12.13	29	SNP	0.001	T
NBPF10	100132406	genome.wustl.edu	37	1	145365372	145365372	+	Missense_Mutation	SNP	C	C	G	rs4126496	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:145365372C>G	ENST00000342960.5	+	80	10032	c.9997C>G	c.(9997-9999)Ctt>Gtt	p.L3333V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	647						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCAGGTTGTCTTGAACTGTG	0.488													.|||	1218	0.243211	0.1377	0.3674	5008	,	,		33448	0.1627		0.3887	False		,,,				2504	0.2311					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9997C>G	1.37:g.145365372C>G	ENSP00000345684:p.Leu3333Val		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.L3333V	ENST00000342960.5	37	c.9997	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	7.899	0.734062	0.15574	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	0.74	0.74	0.18330	.	.	.	.	.	T	0.02193	0.0068	L	0.36672	1.1	0.80722	P	0.0	.	.	.	.	.	.	T	0.47262	-0.9131	6	0.17369	T	0.5	.	4.8933	0.13737	0.0:1.0:0.0:0.0	rs4126496	.	.	.	V	3333	ENSP00000345684:L3333V	ENSP00000345684:L3333V	L	+	1	0	NBPF10	144076729	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	1.024000	0.30077	0.725000	0.32318	0.152000	0.16155	CTT	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.488	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		74	0.00	0	C	NM_001039703		145365372	145365372	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	missense	78	69.05	174	SNP	0.001	G
NBPF10	100132406	genome.wustl.edu	37	1	145368472	145368472	+	Missense_Mutation	SNP	C	C	T	rs201192694		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:145368472C>T	ENST00000369339.3	+	17	2057	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	NBPF10_ENST00000369338.1_Missense_Mutation_p.R600C|NBPF10_ENST00000342960.5_Missense_Mutation_p.R3484C			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	779	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGTGGAAGAGCGTGAAGTCTT	0.463																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1804C>T	1.37:g.145368472C>T	ENSP00000358345:p.Arg602Cys		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.R3484C	ENST00000369339.3	37	c.10450		1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642524	0.29246	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.07114	3.22;3.22	0.732	-1.43	0.08884	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.46133	-0.9213	7	0.48119	T	0.1	.	3.7006	0.08380	0.5164:0.4836:0.0:0.0	.	.	.	.	C	604;600;3484	ENSP00000358344:R600C;ENSP00000345684:R3484C	ENSP00000345684:R3484C	R	+	1	0	NBPF10	144079829	0.003000	0.15002	0.002000	0.10522	0.011000	0.07611	-0.826000	0.04429	-0.353000	0.08224	0.384000	0.25694	CGT	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.463	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	186	0.00	0	C	NM_001039703		145368472	145368472	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	missense	330	25.45	113	SNP	0.003	T
NBPF10	100132406	genome.wustl.edu	37	1	145368597	145368597	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:145368597C>T	ENST00000369339.3	+	17	2182	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	NBPF10_ENST00000369338.1_Silent_p.F641F|NBPF10_ENST00000342960.5_Silent_p.F3525F			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	820	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACATCAGCTTCGCCCTTTACG	0.433																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1929C>T	1.37:g.145368597C>T			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.F3525	ENST00000369339.3	37	c.10575		1																																																																																			NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.433	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	136	0.00	0	C	NM_001039703		145368597	145368597	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	silent	483	20.43	124	SNP	0.000	T
NBPF12	149013	genome.wustl.edu	37	1	146398324	146398324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:146398324C>T	ENST00000442909.2	+	7	1146	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NBPF12_ENST00000309471.8_Nonsense_Mutation_p.R29*|NBPF12_ENST00000446760.2_Nonsense_Mutation_p.R104*			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						CTCTCAGGAACGAGAGCTGAC	0.493																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.310C>T	1.37:g.146398324C>T	ENSP00000391116:p.Arg104*		O95877	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.R104*	ENST00000442909.2	37	c.310		1	.	.	.	.	.	.	.	.	.	.	N	37	6.492900	0.97612	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	.	.	.	1.68	0.612	0.17591	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2215	0.15371	0.3416:0.6584:0.0:0.0	.	.	.	.	X	104;104;29	.	ENSP00000311131:R29X	R	+	1	2	NBPF12	144765839	0.120000	0.22244	0.000000	0.03702	0.009000	0.06853	0.039000	0.13884	0.073000	0.16731	0.361000	0.22055	CGA	NBPF12	-	NULL	ENSG00000186275		0.493	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	53	0.00	0	C	XM_003119146		146398324	146398324	+1	no_errors	ENST00000446760	ensembl	human	known	69_37n	nonsense	105	17.32	22	SNP	0.001	T
NBPF12	149013	genome.wustl.edu	37	1	146398399	146398399	+	Missense_Mutation	SNP	G	G	A	rs377655940	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:146398399G>A	ENST00000442909.2	+	7	1221	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	NBPF12_ENST00000309471.8_Missense_Mutation_p.A54T|NBPF12_ENST00000446760.2_Missense_Mutation_p.A129T			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.A129T(2)		ovary(2)	2						GCATCTCCAGGCCCTCCTCAC	0.562													.|||	473	0.0944489	0.0582	0.1297	5008	,	,		20533	0.1925		0.0795	False		,,,				2504	0.0327					dbGAP											2	Substitution - Missense(2)	kidney(2)																																								-	-	-	SO:0001583	missense	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.385G>A	1.37:g.146398399G>A	ENSP00000391116:p.Ala129Thr		O95877	Missense_Mutation	SNP	pfam_NBPF_dom	p.A129T	ENST00000442909.2	37	c.385		1	.	.	.	.	.	.	.	.	.	.	N	10.47	1.358065	0.24598	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	T;T;T	0.42513	4.12;4.12;0.97	1.68	-1.18	0.09617	.	.	.	.	.	T	0.20861	0.0502	L	0.52759	1.655	0.80722	P	0.0	P	0.46395	0.877	P	0.51866	0.682	T	0.06267	-1.0836	8	0.21014	T	0.42	.	2.9871	0.05971	0.2025:0.2889:0.5085:0.0	.	129	Q86T75-2	.	T	129;129;54	ENSP00000396525:A129T;ENSP00000391116:A129T;ENSP00000311131:A54T	ENSP00000311131:A54T	A	+	1	0	NBPF12	144765764	0.004000	0.15560	0.000000	0.03702	0.063000	0.16089	0.761000	0.26489	-0.391000	0.07763	0.361000	0.22055	GCC	NBPF12	-	NULL	ENSG00000186275		0.562	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	37	0.00	0	G	XM_003119146		146398399	146398399	+1	no_errors	ENST00000446760	ensembl	human	known	69_37n	missense	20	67.21	41	SNP	0.000	A
NBPF12	149013	genome.wustl.edu	37	1	146466030	146466030	+	Missense_Mutation	SNP	C	C	G	rs201303733	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:146466030C>G	ENST00000442909.2	+	82	10741	c.9905C>G	c.(9904-9906)aCc>aGc	p.T3302S	NBPF12_ENST00000309471.8_3'UTR|NBPF12_ENST00000446760.2_3'UTR			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	240						cytoplasm (GO:0005737)				ovary(2)	2						CAGCACATCACCTTTGCCCTT	0.433													.|||	387	0.0772764	0.0946	0.1484	5008	,	,		14561	0.0962		0.0427	False		,,,				2504	0.0194					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.9905C>G	1.37:g.146466030C>G	ENSP00000391116:p.Thr3302Ser		O95877	Missense_Mutation	SNP	pfam_NBPF_dom	p.T3302S	ENST00000442909.2	37	c.9905		1	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.929760	0.00054	.	.	ENSG00000186275	ENST00000442909	T	0.05258	3.47	0.59	-1.18	0.09617	.	.	.	.	.	T	0.00241	0.0007	N	0.00347	-1.61	0.09310	N	1	.	.	.	.	.	.	T	0.35400	-0.9790	6	0.02654	T	1	.	.	.	.	rs4028590	.	.	.	S	3302	ENSP00000391116:T3302S	ENSP00000391116:T3302S	T	+	2	0	NBPF12	144932653	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.924000	0.01565	-3.051000	0.00260	-1.920000	0.00515	ACC	NBPF12	-	pfam_NBPF_dom	ENSG00000186275		0.433	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	32	0.00	0	C	XM_003119146		146466030	146466030	+1	no_errors	ENST00000442909	ensembl	human	novel	69_37n	missense	0	100.00	7	SNP	0.000	G
NBPF22P	285622	genome.wustl.edu	37	5	85581612	85581612	+	RNA	SNP	C	C	T	rs545798890	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:85581612C>T	ENST00000590707.1	+	0	632					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		CCTGACCTGACTCCCTCCTAC	0.483													c|||	38	0.00758786	0.0272	0.0014	5008	,	,		21193	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85581612C>T				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.483	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	63	0.00	0	C	XM_208333		85581612	85581612	+1	no_errors	ENST00000590707	ensembl	human	known	69_37n	rna	150	40.24	101	SNP	0.001	T
NBR2	10230	genome.wustl.edu	37	17	41290674	41290674	+	RNA	SNP	G	G	C	rs2292595	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:41290674G>C	ENST00000460115.1	+	0	225					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		ttctgtgcaggtgctggaagc	0.527													G|||	1767	0.352835	0.2171	0.3732	5008	,	,		19675	0.372		0.3579	False		,,,				2504	0.4969					dbGAP											0																																										-	-	-			0			U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290674G>C			Q3LRJ7	RNA	SNP	-	NULL	ENST00000460115.1	37	NULL		17																																																																																			NBR2	-	-	ENSG00000198496		0.527	NBR2-001	KNOWN	basic	processed_transcript	NBR2	HGNC	pseudogene	OTTHUMT00000277175.1	56	0.00	0	G	NR_003108		41290674	41290674	+1	no_errors	ENST00000356906	ensembl	human	known	69_37n	rna	44	30.16	19	SNP	0.039	C
NCAM2	4685	genome.wustl.edu	37	21	22906884	22906884	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr21:22906884T>G	ENST00000400546.1	+	17	2558	c.2309T>G	c.(2308-2310)gTg>gGg	p.V770G	NCAM2_ENST00000284894.7_Missense_Mutation_p.V628G	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	770					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAACCAATAGTGGAGATGAGA	0.373																																						dbGAP											0													112.0	105.0	107.0					21																	22906884		1871	4092	5963	-	-	-	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2309T>G	21.37:g.22906884T>G	ENSP00000383392:p.Val770Gly		A8MQ06|B7Z841|Q7Z7F2	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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.V770G	ENST00000400546.1	37	c.2309	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212277	0.79240	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.62941	-0.01;-0.01	5.49	5.49	0.81192	.	0.135122	0.49916	D	0.000138	T	0.73140	0.3549	M	0.62723	1.935	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.59288	0.585;0.855	T	0.76181	-0.3053	10	0.66056	D	0.02	-13.4074	14.4086	0.67101	0.0:0.0:0.0:1.0	.	628;770	B7Z5K2;O15394	.;NCAM2_HUMAN	G	770;628	ENSP00000383392:V770G;ENSP00000284894:V628G	ENSP00000284894:V628G	V	+	2	0	NCAM2	21828755	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.396000	0.79891	2.088000	0.63022	0.377000	0.23210	GTG	NCAM2	-	NULL	ENSG00000154654		0.373	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	96	0.00	0	T	NM_004540		22906884	22906884	+1	no_errors	ENST00000400546	ensembl	human	known	69_37n	missense	111	43.37	85	SNP	1.000	G
NCLN	56926	genome.wustl.edu	37	19	3196207	3196207	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:3196207G>A	ENST00000246117.4	+	4	978	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	NCLN_ENST00000590671.1_Missense_Mutation_p.G109S	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	183					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGCCAACGGCTTCCAGAT	0.682																																						dbGAP											0													39.0	31.0	34.0					19																	3196207		2179	4241	6420	-	-	-	SO:0001583	missense	0			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.547G>A	19.37:g.3196207G>A	ENSP00000246117:p.Gly183Ser		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin	p.G183S	ENST00000246117.4	37	c.547	CCDS32869.1	19	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609240	0.66558	.	.	ENSG00000125912	ENST00000246117	D	0.82433	-1.61	4.26	4.26	0.50523	.	0.107365	0.64402	D	0.000006	T	0.79678	0.4487	M	0.79475	2.455	0.80722	D	1	P	0.35793	0.521	B	0.21708	0.036	T	0.79361	-0.1835	10	0.25106	T	0.35	-12.0409	15.2471	0.73513	0.0:0.0:1.0:0.0	.	183	Q969V3	NCLN_HUMAN	S	183	ENSP00000246117:G183S	ENSP00000246117:G183S	G	+	1	0	NCLN	3147207	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	9.246000	0.95438	1.914000	0.55421	0.407000	0.27541	GGC	NCLN	-	pirsf_Nicalin	ENSG00000125912		0.682	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCLN	HGNC	protein_coding	OTTHUMT00000452545.1	21	0.00	0	G	NM_020170		3196207	3196207	+1	no_errors	ENST00000246117	ensembl	human	known	69_37n	missense	4	64.29	9	SNP	1.000	A
NCOA6	23054	genome.wustl.edu	37	20	33330151	33330151	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:33330151G>A	ENST00000374796.2	-	12	6479	c.3909C>T	c.(3907-3909)caC>caT	p.H1303H	NCOA6_ENST00000359003.2_Silent_p.H1303H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1303	NCOA1-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						AATCTAATTTGTGAGTTTGTG	0.448																																						dbGAP											0													112.0	117.0	115.0					20																	33330151		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.3909C>T	20.37:g.33330151G>A			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.H1303	ENST00000374796.2	37	c.3909	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.448	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	127	0.00	0	G	NM_014071		33330151	33330151	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	silent	146	38.14	90	SNP	1.000	A
NDUFS7	374291	genome.wustl.edu	37	19	1388867	1388867	+	Missense_Mutation	SNP	C	C	T	rs565395435	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:1388867C>T	ENST00000233627.9	+	4	454	c.158C>T	c.(157-159)gCt>gTt	p.A53V	NDUFS7_ENST00000414651.2_Missense_Mutation_p.A83V|NDUFS7_ENST00000313408.7_Missense_Mutation_p.A53V|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A53V|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A53V|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	53					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	Doxorubicin(DB00997)	AGAGCCGTGGCTCCCAAACCC	0.667													c|||	2	0.000399361	0.0	0.0	5008	,	,		18777	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													45.0	43.0	44.0					19																	1388867		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.158C>T	19.37:g.1388867C>T	ENSP00000233627:p.Ala53Val		B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su	p.A53V	ENST00000233627.9	37	c.158	CCDS12063.1	19	.	.	.	.	.	.	.	.	.	.	c	4.874	0.162515	0.09287	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000435801;ENST00000450862;ENST00000414651	T;T;T;T;T	0.62941	-0.01;-0.0;0.0;-0.01;-0.0	4.76	2.65	0.31530	.	0.477565	0.20154	N	0.098096	T	0.20536	0.0494	N	0.00182	-1.905	0.21147	N	0.999778	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.09377	0.002;0.004;0.001;0.001	T	0.29640	-1.0005	10	0.18710	T	0.47	.	6.8362	0.23937	0.0:0.2782:0.0:0.7218	.	53;60;53;53	F5H5N1;Q8NAS7;B3KRI2;O75251	.;.;.;NDUS7_HUMAN	V	53;53;53;53;53;53;83	ENSP00000440348:A53V;ENSP00000233627:A53V;ENSP00000443273:A53V;ENSP00000364262:A53V;ENSP00000406630:A83V	ENSP00000233627:A53V	A	+	2	0	NDUFS7	1339867	0.116000	0.22171	0.636000	0.29352	0.001000	0.01503	0.343000	0.19944	0.212000	0.20703	-0.349000	0.07799	GCT	NDUFS7	-	NULL	ENSG00000115286		0.667	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS7	HGNC	protein_coding	OTTHUMT00000397984.1	23	0.00	0	C	NM_024407		1388867	1388867	+1	no_errors	ENST00000233627	ensembl	human	known	69_37n	missense	3	72.73	8	SNP	0.969	T
NES	10763	genome.wustl.edu	37	1	156641321	156641321	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:156641321C>T	ENST00000368223.3	-	4	2791	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	887	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTGATTCTCCTCTTCCAGG	0.443																																						dbGAP											0													65.0	68.0	67.0					1																	156641321		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2659G>A	1.37:g.156641321C>T	ENSP00000357206:p.Glu887Lys		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E887K	ENST00000368223.3	37	c.2659	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897593	0.52121	.	.	ENSG00000132688	ENST00000368223	D	0.93076	-3.16	5.16	1.05	0.20165	.	.	.	.	.	D	0.83078	0.5176	L	0.58101	1.795	0.09310	N	1	B	0.21821	0.061	B	0.18263	0.021	T	0.75451	-0.3313	9	0.72032	D	0.01	.	6.3238	0.21232	0.0:0.5503:0.286:0.1637	.	887	P48681	NEST_HUMAN	K	887	ENSP00000357206:E887K	ENSP00000357206:E887K	E	-	1	0	NES	154907945	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.811000	0.27198	-0.049000	0.13379	-0.253000	0.11424	GAG	NES	-	NULL	ENSG00000132688		0.443	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	185	0.00	0	C	NM_006617		156641321	156641321	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	missense	49	52.88	55	SNP	0.001	T
NFATC4	4776	genome.wustl.edu	37	14	24845726	24845726	+	Silent	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:24845726C>A	ENST00000250373.4	+	9	2424	c.2283C>A	c.(2281-2283)ggC>ggA	p.G761G	NFATC4_ENST00000554591.1_Silent_p.G824G|NFATC4_ENST00000554344.1_Silent_p.G691G|NFATC4_ENST00000556169.1_Silent_p.G749G|NFATC4_ENST00000413692.2_Silent_p.G824G|NFATC4_ENST00000554966.1_Silent_p.G774G|NFATC4_ENST00000556279.1_Silent_p.G793G|NFATC4_ENST00000554473.1_Silent_p.G296G|NFATC4_ENST00000556759.1_Silent_p.G296G|NFATC4_ENST00000555453.1_Silent_p.G749G|NFATC4_ENST00000422617.3_Silent_p.G749G|NFATC4_ENST00000553708.1_Silent_p.G761G|NFATC4_ENST00000554661.1_Silent_p.G691G|NFATC4_ENST00000424781.2_Silent_p.G774G|NFATC4_ENST00000557451.1_Silent_p.G691G|NFATC4_ENST00000555393.1_Silent_p.G49G|NFATC4_ENST00000553469.1_Silent_p.G793G|NFATC4_ENST00000555802.1_Silent_p.G49G|NFATC4_ENST00000554050.1_Silent_p.G761G|NFATC4_ENST00000557767.1_Silent_p.G49G|NFATC4_ENST00000553879.1_Silent_p.G691G|NFATC4_ENST00000555590.1_Silent_p.G774G|NFATC4_ENST00000539237.2_Silent_p.G793G|NFATC4_ENST00000555167.1_Silent_p.G296G	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	761	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACAGACCGGGCCTGCGGATGT	0.612																																						dbGAP											0													44.0	49.0	47.0					14																	24845726		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2283C>A	14.37:g.24845726C>A			B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.G824	ENST00000250373.4	37	c.2472	CCDS9629.1	14																																																																																			NFATC4	-	NULL	ENSG00000100968		0.612	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	49	0.00	0	C	NM_004554		24845726	24845726	+1	no_errors	ENST00000413692	ensembl	human	known	69_37n	silent	15	60.53	23	SNP	1.000	A
NHEJ1	79840	genome.wustl.edu	37	2	220022358	220022358	+	Silent	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:220022358A>G	ENST00000356853.5	-	3	359	c.226T>C	c.(226-228)Ttg>Ctg	p.L76L	NHEJ1_ENST00000409720.1_Silent_p.L76L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	76	Globular head.				B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		AGATTATCCAAATGACAGAGG	0.507								Non-homologous end-joining																														dbGAP											0													93.0	85.0	87.0					2																	220022358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.226T>C	2.37:g.220022358A>G			B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Silent	SNP	pfam_XLF/Cernunnos	p.L76	ENST00000356853.5	37	c.226	CCDS2432.1	2																																																																																			NHEJ1	-	pfam_XLF/Cernunnos	ENSG00000187736		0.507	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHEJ1	HGNC	protein_coding	OTTHUMT00000256817.2	97	0.00	0	A	NM_024782		220022358	220022358	-1	no_errors	ENST00000409720	ensembl	human	known	69_37n	silent	43	46.25	37	SNP	1.000	G
NIPA1	123606	genome.wustl.edu	37	15	23060869	23060869	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:23060869G>A	ENST00000337435.4	-	3	287	c.263C>T	c.(262-264)aCg>aTg	p.T88M	NIPA1_ENST00000538684.1_De_novo_Start_OutOfFrame|NIPA1_ENST00000561183.1_Missense_Mutation_p.T13M|NIPA1_ENST00000437912.2_Missense_Mutation_p.T13M	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	88					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)		GGGGACCGCCGTGTAAGCCAG	0.502																																						dbGAP											0													50.0	47.0	48.0					15																	23060869		2203	4300	6503	-	-	-	SO:0001583	missense	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.263C>T	15.37:g.23060869G>A	ENSP00000337452:p.Thr88Met		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	pfam_Mg_trans_NIPA	p.T88M	ENST00000337435.4	37	c.263	CCDS10011.1	15	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381977	0.61845	.	.	ENSG00000170113	ENST00000337435;ENST00000437912	T;T	0.70045	-0.45;-0.45	5.78	5.78	0.91487	.	0.045785	0.85682	D	0.000000	T	0.76856	0.4046	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.75684	-0.3232	10	0.52906	T	0.07	-20.7614	20.3668	0.98882	0.0:0.0:1.0:0.0	.	88	Q7RTP0	NIPA1_HUMAN	M	88;13	ENSP00000337452:T88M;ENSP00000393962:T13M	ENSP00000337452:T88M	T	-	2	0	NIPA1	20612310	1.000000	0.71417	0.980000	0.43619	0.937000	0.57800	5.361000	0.66092	2.894000	0.99253	0.655000	0.94253	ACG	NIPA1	-	pfam_Mg_trans_NIPA	ENSG00000170113		0.502	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA1	HGNC	protein_coding	OTTHUMT00000251135.2	40	0.00	0	G	NM_144599		23060869	23060869	-1	no_errors	ENST00000337435	ensembl	human	known	69_37n	missense	16	43.33	13	SNP	0.998	A
NKD2	85409	genome.wustl.edu	37	5	1036900	1036900	+	Intron	SNP	C	C	T	rs34309815	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:1036900C>T	ENST00000296849.5	+	9	1016				NKD2_ENST00000274150.4_Intron|NKD2_ENST00000382730.2_Silent_p.A2A|NKD2_ENST00000537972.1_Intron	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)						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)			TGTGGATGGCCGGCAGTGTGG	0.587													c|||	1929	0.385184	0.18	0.4006	5008	,	,		14460	0.4583		0.4652	False		,,,				2504	0.4939					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.787+401C>T	5.37:g.1036900C>T			Q96EK8|Q9BSN0	Silent	SNP	NULL	p.A2	ENST00000296849.5	37	c.6	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.587	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	15	0.00	0	C	NM_033120		1036900	1036900	+1	no_errors	ENST00000382730	ensembl	human	known	69_37n	silent	2	66.67	4	SNP	0.009	T
NMRK1	54981	genome.wustl.edu	37	9	77676285	77676285	+	3'UTR	SNP	T	T	G	rs11519	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:77676285T>G	ENST00000361092.4	-	0	1015				NMRK1_ENST00000376811.1_3'UTR|NMRK1_ENST00000482537.1_5'UTR|NMRK1_ENST00000376808.4_3'UTR	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1						NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TACAGTCCTGTCCATTGGCAT	0.423													T|||	517	0.103235	0.0204	0.1412	5008	,	,		20730	0.0754		0.162	False		,,,				2504	0.1564					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.*179A>C	9.37:g.77676285T>G			Q5W124|Q8N430	RNA	SNP	-	NULL	ENST00000361092.4	37	NULL	CCDS6650.1	9																																																																																			NMRK1	-	-	ENSG00000106733		0.423	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMRK1	HGNC	protein_coding	OTTHUMT00000052705.1	32	0.00	0	T	NM_017881		77676285	77676285	-1	no_errors	ENST00000482537	ensembl	human	known	69_37n	rna	48	51.00	51	SNP	0.001	G
NPIPB3	23117	genome.wustl.edu	37	16	21416115	21416115	+	Missense_Mutation	SNP	G	G	A	rs202133380	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:21416115G>A	ENST00000448012.2	-	8	1067	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	NPIPB3_ENST00000542817.1_Missense_Mutation_p.A165V|NPIPB3_ENST00000458643.2_Missense_Mutation_p.A198V	NM_130464.2	NP_569731.2	Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	507	Pro-rich.					integral component of membrane (GO:0016021)											ATTATCATCCGCTGAGGGTGG	0.567																																						dbGAP											0													1.0	1.0	1.0					16																	21416115		786	1499	2285	-	-	-	SO:0001583	missense	0					16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000448012.2:c.1028C>T	16.37:g.21416115G>A	ENSP00000390496:p.Ala343Val		O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	Missense_Mutation	SNP	pfam_NPIP	p.A259V	ENST00000448012.2	37	c.776		16	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966178	0.18659	.	.	ENSG00000169246	ENST00000447737;ENST00000319334;ENST00000542817;ENST00000448012;ENST00000458643	T	0.25250	1.81	.	.	.	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.09310	N	1	D;D	0.63046	0.976;0.992	P;D	0.66716	0.695;0.946	T	0.19386	-1.0307	6	0.34782	T	0.22	.	.	.	.	.	362;381	Q92617-3;Q92617-2	.;.	V	259;198;165;343;198	ENSP00000390496:A343V	ENSP00000346048:A198V	A	-	2	0	NPIPL3	21323616	0.017000	0.18338	0.112000	0.21494	0.112000	0.19704	0.064000	0.14437	0.073000	0.16731	0.074000	0.15403	GCG	NPIPL3	-	pfam_NPIP	ENSG00000169246		0.567	NPIPB3-201	KNOWN	basic|appris_principal	protein_coding	NPIPL3	HGNC	protein_coding		29	0.00	0	G	NM_130464		21416115	21416115	-1	no_errors	ENST00000447737	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.114	A
NR3C2	4306	genome.wustl.edu	37	4	149357328	149357328	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:149357328T>C	ENST00000358102.3	-	2	1047	c.685A>G	c.(685-687)Atc>Gtc	p.I229V	NR3C2_ENST00000344721.4_Missense_Mutation_p.I229V|NR3C2_ENST00000511528.1_Missense_Mutation_p.I229V|NR3C2_ENST00000355292.3_Missense_Mutation_p.I229V|NR3C2_ENST00000512865.1_Missense_Mutation_p.I229V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	229	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCCTGGGTGATTGGGCTGTGC	0.552																																					Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													55.0	58.0	57.0					4																	149357328		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.685A>G	4.37:g.149357328T>C	ENSP00000350815:p.Ile229Val		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	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_Znf_hrmn_rcpt	p.I229V	ENST00000358102.3	37	c.685	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.481406	0.01027	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-1.96;-1.99;-2.4	4.86	1.16	0.20824	.	0.526269	0.22603	N	0.057922	T	0.71264	0.3319	N	0.04203	-0.255	0.27358	N	0.956059	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.57877	-0.7735	9	.	.	.	.	8.2771	0.31879	0.0:0.4062:0.0:0.5938	.	229;229	B0ZBF5;B0ZBF6	.;.	V	229	ENSP00000341390:I229V;ENSP00000347441:I229V;ENSP00000350815:I229V;ENSP00000423510:I229V;ENSP00000343907:I229V;ENSP00000421481:I229V	.	I	-	1	0	NR3C2	149576778	0.013000	0.17824	0.824000	0.32777	0.944000	0.59088	0.104000	0.15313	0.314000	0.23086	-0.326000	0.08463	ATC	NR3C2	-	NULL	ENSG00000151623		0.552	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	93	0.00	0	T			149357328	149357328	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	missense	26	53.57	30	SNP	0.641	C
NPY2R	4887	genome.wustl.edu	37	4	156135164	156135164	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:156135164C>G	ENST00000329476.3	+	2	562	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E	NPY2R_ENST00000506608.1_Missense_Mutation_p.Q25E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	25					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ATACGGGCCACAAACAACTCC	0.483																																						dbGAP											0													168.0	155.0	159.0					4																	156135164		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.73C>G	4.37:g.156135164C>G	ENSP00000332591:p.Gln25Glu		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_NPY2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.Q25E	ENST00000329476.3	37	c.73	CCDS3791.1	4	.	.	.	.	.	.	.	.	.	.	C	0.323	-0.960771	0.02249	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69175	-0.38;-0.38	5.4	5.4	0.78164	.	1.398810	0.04164	N	0.323657	T	0.53834	0.1821	N	0.14661	0.345	0.20563	N	0.999884	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	10	0.23891	T	0.37	.	11.9127	0.52747	0.0:0.9107:0.0:0.0893	.	25	P49146	NPY2R_HUMAN	E	25	ENSP00000332591:Q25E;ENSP00000426366:Q25E	ENSP00000332591:Q25E	Q	+	1	0	NPY2R	156354614	0.000000	0.05858	0.930000	0.37139	0.115000	0.19883	0.576000	0.23744	2.680000	0.91292	0.637000	0.83480	CAA	NPY2R	-	NULL	ENSG00000185149		0.483	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	115	0.00	0	C	NM_000910		156135164	156135164	+1	no_errors	ENST00000329476	ensembl	human	known	69_37n	missense	95	41.57	69	SNP	0.801	G
NRSN2	80023	genome.wustl.edu	37	20	330424	330424	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:330424A>C	ENST00000382291.3	+	3	377	c.137A>C	c.(136-138)gAg>gCg	p.E46A	NRSN2_ENST00000608736.1_Missense_Mutation_p.E46A|NRSN2_ENST00000382285.2_Missense_Mutation_p.E46A|NRSN2_ENST00000492242.1_Intron|RP5-1103G7.4_ENST00000442637.1_RNA	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	46						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GACGACCCTGAGGGACCTCCG	0.637																																						dbGAP											0													52.0	52.0	52.0					20																	330424		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.137A>C	20.37:g.330424A>C	ENSP00000371728:p.Glu46Ala		A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	NULL	p.E46A	ENST00000382291.3	37	c.137	CCDS12996.1	20	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103185	0.37145	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.19938	2.11;2.11	4.21	4.21	0.49690	.	0.460578	0.20895	N	0.083743	T	0.41236	0.1150	M	0.65498	2.005	0.37975	D	0.933427	D	0.76494	0.999	D	0.80764	0.994	T	0.43360	-0.9396	10	0.59425	D	0.04	-20.1571	9.6464	0.39870	1.0:0.0:0.0:0.0	.	46	Q9GZP1	NRSN2_HUMAN	A	46	ENSP00000371728:E46A;ENSP00000371722:E46A	ENSP00000371722:E46A	E	+	2	0	NRSN2	278424	0.999000	0.42202	0.509000	0.27700	0.103000	0.19146	2.994000	0.49433	1.764000	0.52075	0.519000	0.50382	GAG	NRSN2	-	NULL	ENSG00000125841		0.637	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN2	HGNC	protein_coding	OTTHUMT00000077446.1	15	0.00	0	A	NM_024958		330424	330424	+1	no_errors	ENST00000382285	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.902	C
NUDT12	83594	genome.wustl.edu	37	5	102895777	102895777	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:102895777T>A	ENST00000230792.2	-	2	269	c.173A>T	c.(172-174)cAc>cTc	p.H58L	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	58					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TATCTCTGGGTGCCCATTCCT	0.388																																						dbGAP											0													125.0	119.0	121.0					5																	102895777		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.173A>T	5.37:g.102895777T>A	ENSP00000230792:p.His58Leu		B3KUW2|Q8TAL7	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H58L	ENST00000230792.2	37	c.173	CCDS4096.1	5	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168107	0.78339	.	.	ENSG00000112874	ENST00000230792	T	0.67523	-0.27	5.9	5.9	0.94986	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.84554	0.0646	10	0.87932	D	0	-14.7655	16.3322	0.83039	0.0:0.0:0.0:1.0	.	58	Q9BQG2	NUD12_HUMAN	L	58	ENSP00000230792:H58L	ENSP00000230792:H58L	H	-	2	0	NUDT12	102923676	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	5.344000	0.65981	2.251000	0.74343	0.528000	0.53228	CAC	NUDT12	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000112874		0.388	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	HGNC	protein_coding	OTTHUMT00000250650.1	37	0.00	0	T	NM_031438		102895777	102895777	-1	no_errors	ENST00000230792	ensembl	human	known	69_37n	missense	79	55.56	100	SNP	1.000	A
NUP153	9972	genome.wustl.edu	37	6	17675939	17675939	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:17675939G>A	ENST00000262077.2	-	3	396	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	NUP153_ENST00000537253.1_Missense_Mutation_p.R133W	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	133					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 RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGATGGCTCCGATGAAGAGAA	0.393																																						dbGAP											0													94.0	95.0	94.0					6																	17675939		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.397C>T	6.37:g.17675939G>A	ENSP00000262077:p.Arg133Trp		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.R133W	ENST00000262077.2	37	c.397	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870361	0.91587	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.39997	1.05;1.05	5.26	5.26	0.73747	Nucleoporin, Nup153-like (1);	0.000000	0.47852	D	0.000201	T	0.59945	0.2231	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.64499	-0.6393	10	0.87932	D	0	-4.4405	18.8653	0.92289	0.0:0.0:1.0:0.0	.	133;155;133	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	W	133;155;133	ENSP00000262077:R133W;ENSP00000444029:R133W	ENSP00000262077:R133W	R	-	1	2	NUP153	17783918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.462000	0.83206	0.650000	0.86243	CGG	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.393	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	47	0.00	0	G			17675939	17675939	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	58	47.27	52	SNP	1.000	A
NUP214	8021	genome.wustl.edu	37	9	134103692	134103692	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:134103692T>C	ENST00000359428.5	+	33	6192	c.6048T>C	c.(6046-6048)acT>acC	p.T2016T	NUP214_ENST00000451030.1_Silent_p.T2017T|NUP214_ENST00000483497.2_Silent_p.T842T|NUP214_ENST00000411637.2_Silent_p.T2006T			P35658	NU214_HUMAN	nucleoporin 214kDa	2016	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 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)		GAGAGGGCACTGCAGCTGCCA	0.637			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													38.0	43.0	41.0					9																	134103692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.6048T>C	9.37:g.134103692T>C			A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	NULL	p.L869P	ENST00000359428.5	37	c.2606	CCDS6940.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.76|10.76	1.440155|1.440155	0.25900|0.25900	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000476004|ENST00000498010	.|.	.|.	.|.	5.28|5.28	1.6|1.6	0.23607|0.23607	.|.	.|.	.|.	.|.	.|.	T|T	0.42765|0.42765	0.1217|0.1217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25293|0.25293	-1.0136|-1.0136	4|4	.|.	.|.	.|.	-24.2157|-24.2157	1.459|1.459	0.02391|0.02391	0.1373:0.2894:0.1411:0.4322|0.1373:0.2894:0.1411:0.4322	.|.	.|.	.|.	.|.	R|P	28|44	.|.	.|.	C|L	+|+	1|2	0|0	NUP214|NUP214	133093513|133093513	0.020000|0.020000	0.18652|0.18652	0.994000|0.994000	0.49952|0.49952	0.963000|0.963000	0.63663|0.63663	-0.888000|-0.888000	0.04148|0.04148	0.338000|0.338000	0.23692|0.23692	0.460000|0.460000	0.39030|0.39030	TGC|CTG	NUP214	-	NULL	ENSG00000126883		0.637	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	27	0.00	0	T	NM_005085		134103692	134103692	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453861	ensembl	human	known	69_37n	missense	11	50.00	11	SNP	0.954	C
NUP88	4927	genome.wustl.edu	37	17	5322709	5322709	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:5322709C>T	ENST00000573584.1	-	1	771	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000381209.3_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	88					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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCGCCGCCGCCGCTGGGGCCC	0.602																																						dbGAP											0													28.0	33.0	31.0					17																	5322709		2202	4298	6500	-	-	-	SO:0001583	missense	0			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.262G>A	17.37:g.5322709C>T	ENSP00000458954:p.Gly88Ser		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.G88S	ENST00000573584.1	37	c.262	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	9.115	1.007637	0.19199	.	.	ENSG00000108559	ENST00000225696	T	0.70164	-0.46	5.0	1.92	0.25849	.	0.393945	0.28082	N	0.016662	T	0.42177	0.1191	N	0.17674	0.51	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.14578	0.011;0.004	T	0.20371	-1.0277	10	0.07813	T	0.8	-22.2177	6.7558	0.23512	0.1436:0.7018:0.0:0.1545	.	88;88	B7Z5I6;Q99567	.;NUP88_HUMAN	S	88	ENSP00000225696:G88S	ENSP00000225696:G88S	G	-	1	0	NUP88	5263433	0.002000	0.14202	0.008000	0.14137	0.005000	0.04900	0.244000	0.18124	0.384000	0.24942	0.655000	0.94253	GGC	NUP88	-	pfam_Nucleoporin_Nup88	ENSG00000108559		0.602	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	8	0.00	0	C	NM_002532		5322709	5322709	-1	no_errors	ENST00000573584	ensembl	human	known	69_37n	missense	8	52.94	9	SNP	0.006	T
NUP98	4928	genome.wustl.edu	37	11	3721868	3721868	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:3721868T>C	ENST00000324932.7	-	24	4134	c.3714A>G	c.(3712-3714)gaA>gaG	p.E1238E	NUP98_ENST00000359171.4_Silent_p.E1238E|NUP98_ENST00000355260.3_Silent_p.E1238E	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1255					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)		CTCCTGATGCTTCTTTAACCC	0.428			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													171.0	147.0	155.0					11																	3721868		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	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.3714A>G	11.37:g.3721868T>C			Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96	p.S191G	ENST00000324932.7	37	c.571	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	T	0.801	-0.755427	0.03019	.	.	ENSG00000110713	ENST00000429801	.	.	.	5.51	-1.41	0.08941	.	.	.	.	.	T	0.18964	0.0455	.	.	.	0.19575	N	0.999968	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-3.1164	1.5179	0.02510	0.1219:0.2938:0.2488:0.3355	.	.	.	.	G	191	.	.	S	-	1	0	NUP98	3678444	0.030000	0.19436	0.280000	0.24747	0.248000	0.25809	-0.147000	0.10234	-0.183000	0.10585	0.528000	0.53228	AGC	NUP98	-	NULL	ENSG00000110713		0.428	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	68	0.00	0	T	NM_016320		3721868	3721868	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429801	ensembl	human	novel	69_37n	missense	99	51.23	104	SNP	0.006	C
NYNRIN	57523	genome.wustl.edu	37	14	24878311	24878311	+	Silent	SNP	G	G	C	rs199557445	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:24878311G>C	ENST00000382554.3	+	4	1629	c.1311G>C	c.(1309-1311)ggG>ggC	p.G437G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	437					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						CAGATGGGGGGCTGGGAGGAG	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		18598	0.0		0.002	False		,,,				2504	0.0					dbGAP											0													19.0	20.0	20.0					14																	24878311		1851	4099	5950	-	-	-	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.1311G>C	14.37:g.24878311G>C			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.G437	ENST00000382554.3	37	c.1311	CCDS45090.1	14																																																																																			NYNRIN	-	NULL	ENSG00000205978		0.542	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	25	0.00	0	G			24878311	24878311	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.013	C
OBP2A	29991	genome.wustl.edu	37	9	138441760	138441760	+	3'UTR	SNP	C	C	A	rs7859414	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:138441760C>A	ENST00000539850.1	+	0	882				OBP2A_ENST00000342114.4_3'UTR|OBP2A_ENST00000340780.3_Missense_Mutation_p.S219R|OBP2A_ENST00000371776.1_3'UTR			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)		TACCCTCCAGCCATGACCCTT	0.657													.|||	1285	0.256589	0.525	0.1643	5008	,	,		16036	0.1617		0.1958	False		,,,				2504	0.1196					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_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.*343C>A	9.37:g.138441760C>A			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.S219R	ENST00000539850.1	37	c.657	CCDS6992.1	9	519	0.23763736263736263	241	0.4898373983739837	60	0.16574585635359115	82	0.14335664335664336	136	0.17941952506596306	c	8.402	0.842167	0.16963	.	.	ENSG00000122136	ENST00000340780	T	0.30448	1.53	1.66	0.73	0.18271	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	P	0.36647	0.563	B	0.21151	0.033	T	0.47586	-0.9106	7	0.62326	D	0.03	-1.6179	4.1119	0.10063	0.0:0.7775:0.0:0.2225	rs7859414	219	Q5T8A5	.	R	219	ENSP00000342097:S219R	ENSP00000342097:S219R	S	+	3	2	OBP2A	137581581	0.001000	0.12720	0.005000	0.12908	0.095000	0.18619	0.863000	0.27913	0.285000	0.22329	0.299000	0.19835	AGC	OBP2A	-	NULL	ENSG00000122136		0.657	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	13	0.00	0	C	NM_014582		138441760	138441760	+1	no_errors	ENST00000340780	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.004	A
OR10Q1	219960	genome.wustl.edu	37	11	57995434	57995434	+	Missense_Mutation	SNP	G	G	C	rs112618165		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:57995434G>C	ENST00000316770.2	-	1	956	c.914C>G	c.(913-915)gCt>gGt	p.A305G		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	305						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)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACTCCTCAGAGCACCTTTGAC	0.512																																						dbGAP											0													172.0	164.0	167.0					11																	57995434		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.914C>G	11.37:g.57995434G>C	ENSP00000314324:p.Ala305Gly		Q6IFG4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A305G	ENST00000316770.2	37	c.914	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290446	0.80914	.	.	ENSG00000180475	ENST00000316770	T	0.45276	0.9	5.07	4.15	0.48705	.	0.000000	0.42420	D	0.000716	T	0.54727	0.1876	L	0.60067	1.865	0.21861	N	0.999509	D	0.58970	0.984	P	0.59889	0.865	T	0.50056	-0.8872	10	0.87932	D	0	.	12.1313	0.53944	0.0:0.0:0.8287:0.1713	.	305	Q8NGQ4	O10Q1_HUMAN	G	305	ENSP00000314324:A305G	ENSP00000314324:A305G	A	-	2	0	OR10Q1	57752010	0.937000	0.31787	0.289000	0.24876	0.467000	0.32768	3.484000	0.53201	1.356000	0.45884	0.650000	0.86243	GCT	OR10Q1	-	NULL	ENSG00000180475		0.512	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1	43	0.00	0	G	NM_001004471		57995434	57995434	-1	no_errors	ENST00000316770	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	0.518	C
OR10D3	26497	genome.wustl.edu	37	11	124056787	124056787	+	Missense_Mutation	SNP	G	G	A	rs2512226	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:124056787G>A	ENST00000318666.6	+	1	865	c.811G>A	c.(811-813)Gtg>Atg	p.V271M				Q8NH80	O10D3_HUMAN	olfactory receptor, family 10, subfamily D, member 3 (non-functional)	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GCTGGGAACCGTGGTACAAAT	0.488													G|||	2460	0.491214	0.4198	0.4755	5008	,	,		19532	0.5734		0.5318	False		,,,				2504	0.4724					dbGAP											0																																										-	-	-	SO:0001583	missense	0			X64983		11q24.2	2014-04-01	2010-06-25	2010-06-25	ENSG00000197309	ENSG00000197309		"""GPCR / Class A : Olfactory receptors"""	8168	other	unknown			"""olfactory receptor, family 10, subfamily D, member 3 pseudogene"""	OR10D3P		1370859	Standard	NG_004125		Approved	HTPCRX09	uc001pzv.2	Q8NH80	OTTHUMG00000165166	ENST00000318666.6:c.811G>A	11.37:g.124056787G>A	ENSP00000323895:p.Val271Met			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V271M	ENST00000318666.6	37	c.811		11	1123	0.5141941391941391	198	0.4024390243902439	182	0.5027624309392266	348	0.6083916083916084	395	0.521108179419525	G	0.718	-0.784616	0.02907	.	.	ENSG00000197309	ENST00000318666	T	0.00265	8.39	5.27	-8.57	0.00900	.	0.696409	0.11841	N	0.524307	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.41610	-0.9499	6	0.30078	T	0.28	-1.7197	0.2323	0.00181	0.3507:0.1751:0.208:0.2662	rs2512226;rs60332830;rs2512226	.	.	.	M	271	ENSP00000323895:V271M	ENSP00000323895:V271M	V	+	1	0	OR10D3	123561997	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.169000	0.03120	-1.976000	0.00996	-3.424000	0.00037	GTG	OR10D3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197309		0.488	OR10D3-001	KNOWN	basic|appris_principal	protein_coding	OR10D3	HGNC	protein_coding	OTTHUMT00000382394.2	12	0.00	0	G			124056787	124056787	+1	no_errors	ENST00000318666	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.000	A
OR11H12	440153	genome.wustl.edu	37	14	19378117	19378117	+	Missense_Mutation	SNP	T	T	C	rs200694794		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:19378117T>C	ENST00000550708.1	+	1	596	c.524T>C	c.(523-525)aTt>aCt	p.I175T		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	175						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)		CTGATCCCCATTGTTCTCATC	0.493																																						dbGAP											0													143.0	148.0	146.0					14																	19378117		1524	3191	4715	-	-	-	SO:0001583	missense	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.524T>C	14.37:g.19378117T>C	ENSP00000449002:p.Ile175Thr			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I175T	ENST00000550708.1	37	c.524	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	t	3.454	-0.111387	0.06881	.	.	ENSG00000257115	ENST00000550708	T	0.00020	9.05	0.585	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.347042	0.20453	N	0.092056	T	0.00039	0.0001	N	0.05050	-0.12	0.24184	N	0.995574	B	0.33212	0.402	B	0.37550	0.253	T	0.25152	-1.0140	9	0.05721	T	0.95	.	4.5363	0.12032	0.0:0.2431:0.0:0.7569	.	175	B2RN74	O11HC_HUMAN	T	175	ENSP00000449002:I175T	ENSP00000449002:I175T	I	+	2	0	CR383656.1	18448117	0.000000	0.05858	0.915000	0.36163	0.062000	0.15995	0.086000	0.14935	-1.365000	0.02158	-2.075000	0.00382	ATT	OR11H12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000257115		0.493	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	Clone_based_vega_gene	protein_coding	OTTHUMT00000408402.1	282	0.00	0	T	NM_001013354		19378117	19378117	+1	no_errors	ENST00000550708	ensembl	human	known	69_37n	missense	345	11.76	46	SNP	0.061	C
OR11H12	440153	genome.wustl.edu	37	14	19378395	19378395	+	Missense_Mutation	SNP	A	A	G	rs201551285		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:19378395A>G	ENST00000550708.1	+	1	874	c.802A>G	c.(802-804)Agc>Ggc	p.S268G		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	268						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)		ACTGTGCTATAGCTCTCTTAT	0.468																																						dbGAP											0													6.0	1.0	2.0					14																	19378395		83	207	290	-	-	-	SO:0001583	missense	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.802A>G	14.37:g.19378395A>G	ENSP00000449002:p.Ser268Gly			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S268G	ENST00000550708.1	37	c.802	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.378550	0.00205	.	.	ENSG00000257115	ENST00000550708	T	0.35236	1.32	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.161607	0.28252	N	0.016023	T	0.05593	0.0147	N	0.00146	-1.995	0.19945	N	0.999944	B	0.02656	0.0	B	0.01281	0.0	T	0.31586	-0.9938	9	0.02654	T	1	.	4.1147	0.10076	0.5146:0.0:0.4853:0.0	.	268	B2RN74	O11HC_HUMAN	G	268	ENSP00000449002:S268G	ENSP00000449002:S268G	S	+	1	0	CR383656.1	18448395	0.000000	0.05858	0.815000	0.32552	0.031000	0.12232	0.077000	0.14738	-1.164000	0.02790	-2.094000	0.00368	AGC	OR11H12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000257115		0.468	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	Clone_based_vega_gene	protein_coding	OTTHUMT00000408402.1	86	0.00	0	A	NM_001013354		19378395	19378395	+1	no_errors	ENST00000550708	ensembl	human	known	69_37n	missense	99	11.61	13	SNP	0.193	G
OR13C5	138799	genome.wustl.edu	37	9	107361642	107361642	+	Missense_Mutation	SNP	G	G	A	rs1851722	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:107361642G>A	ENST00000374779.2	-	1	146	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	18			S -> F (in dbSNP:rs1851722).			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(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGGGTGACCAGAAAGTCCCTT	0.388													G|||	1205	0.240615	0.0998	0.366	5008	,	,		20151	0.38		0.2445	False		,,,				2504	0.1943					dbGAP											0													49.0	52.0	51.0					9																	107361642		2201	4294	6495	-	-	-	SO:0001583	missense	0				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.53C>T	9.37:g.107361642G>A	ENSP00000363911:p.Ser18Phe		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S18F	ENST00000374779.2	37	c.53	CCDS35091.1	9	599	0.2742673992673993	53	0.10772357723577236	127	0.35082872928176795	218	0.3811188811188811	201	0.26517150395778366	G	15.10	2.732376	0.48939	.	.	ENSG00000255800	ENST00000374779	T	0.00441	7.41	3.84	2.91	0.33838	.	0.000000	0.36932	U	0.002336	T	0.00012	0.0000	M	0.76170	2.325	0.80722	P	0.0	D	0.60575	0.988	P	0.54924	0.764	T	0.49143	-0.8970	9	0.87932	D	0	.	10.221	0.43196	0.0:0.0:0.8:0.2	rs1851722;rs35304986;rs57432004;rs1851722	18	Q8NGS8	O13C5_HUMAN	F	18	ENSP00000363911:S18F	ENSP00000363911:S18F	S	-	2	0	OR13C5	106401463	0.025000	0.19082	0.002000	0.10522	0.240000	0.25518	2.042000	0.41222	0.777000	0.33496	0.531000	0.56144	TCT	OR13C5	-	NULL	ENSG00000255800		0.388	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	HGNC	protein_coding	OTTHUMT00000053479.2	38	0.00	0	G	NM_001004482		107361642	107361642	-1	no_errors	ENST00000374779	ensembl	human	known	69_37n	missense	0	100.00	74	SNP	0.002	A
OR1A1	8383	genome.wustl.edu	37	17	3119219	3119219	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:3119219A>G	ENST00000304094.1	+	1	305	c.305A>G	c.(304-306)tAt>tGt	p.Y102C		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ACGCAGATGTATTTCATGATA	0.473																																						dbGAP											0													121.0	105.0	110.0					17																	3119219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.305A>G	17.37:g.3119219A>G	ENSP00000305207:p.Tyr102Cys		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y102C	ENST00000304094.1	37	c.305	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382884	0.25031	.	.	ENSG00000172146	ENST00000304094	T	0.00483	7.09	4.96	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.303702	0.24122	N	0.041358	T	0.00440	0.0014	M	0.72894	2.215	0.28385	N	0.919371	B	0.10296	0.003	B	0.11329	0.006	T	0.43475	-0.9389	10	0.48119	T	0.1	.	3.3766	0.07239	0.4425:0.0:0.1675:0.39	.	102	Q9P1Q5	OR1A1_HUMAN	C	102	ENSP00000305207:Y102C	ENSP00000305207:Y102C	Y	+	2	0	OR1A1	3065969	0.000000	0.05858	0.995000	0.50966	0.821000	0.46438	-0.421000	0.07053	0.043000	0.15746	0.358000	0.22013	TAT	OR1A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172146		0.473	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	HGNC	protein_coding	OTTHUMT00000207292.1	100	0.00	0	A	NM_014565		3119219	3119219	+1	no_errors	ENST00000304094	ensembl	human	known	69_37n	missense	85	56.63	111	SNP	0.984	G
OR2A42	402317	genome.wustl.edu	37	7	143929772	143929772	+	Silent	SNP	G	G	A	rs202091077	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:143929772G>A	ENST00000391496.1	-	1	164	c.165C>T	c.(163-165)caC>caT	p.H55H	RP4-545C24.1_ENST00000477797.1_RNA|RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000480074.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000489077.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA	NM_001001802.2	NP_001001802.2	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 42	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					ACATGGGGGTGTGGAGTCTGG	0.587													.|||	1570	0.313498	0.1634	0.4337	5008	,	,		27052	0.5427		0.1292	False		,,,				2504	0.3845					dbGAP											0													9.0	10.0	9.0					7																	143929772		1227	3274	4501	-	-	-	SO:0001819	synonymous_variant	0				CCDS56515.1	7q35	2013-09-20			ENSG00000212807	ENSG00000212807		"""GPCR / Class A : Olfactory receptors"""	31230	protein-coding gene	gene with protein product							Standard	NM_001001802		Approved			Q8NGT9	OTTHUMG00000157995	ENST00000391496.1:c.165C>T	7.37:g.143929772G>A			Q6IF44|Q96R46	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H55	ENST00000391496.1	37	c.165	CCDS56515.1	7																																																																																			OR2A42	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000212807		0.587	OR2A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A42	HGNC	protein_coding	OTTHUMT00000349968.1	10	0.00	0	G			143929772	143929772	-1	no_errors	ENST00000391496	ensembl	human	known	69_37n	silent	0	100.00	20	SNP	1.000	A
OR2B3	442184	genome.wustl.edu	37	6	29054544	29054544	+	Missense_Mutation	SNP	G	G	A	rs531099956		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:29054544G>A	ENST00000377173.2	-	1	546	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	161						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)|lung(17)|prostate(1)|skin(2)	24						AAGAGTCAAGGAAGACTGCAG	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22162	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	55.0	57.0					6																	29054544		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.482C>T	6.37:g.29054544G>A	ENSP00000366378:p.Ser161Phe		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S161F	ENST00000377173.2	37	c.482	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969591	0.34754	.	.	ENSG00000204703	ENST00000377173	T	0.33438	1.41	3.83	0.443	0.16587	GPCR, rhodopsin-like superfamily (1);	0.425675	0.16603	U	0.207280	T	0.10766	0.0263	L	0.28740	0.885	0.09310	N	1	P	0.36144	0.539	P	0.45577	0.486	T	0.22836	-1.0205	10	0.62326	D	0.03	.	1.9596	0.03383	0.1059:0.3021:0.3022:0.2897	.	161	O76000	OR2B3_HUMAN	F	161	ENSP00000366378:S161F	ENSP00000366378:S161F	S	-	2	0	OR2B3	29162523	0.000000	0.05858	0.289000	0.24876	0.982000	0.71751	-0.473000	0.06615	0.065000	0.16485	0.530000	0.56133	TCC	OR2B3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204703		0.493	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	19	0.00	0	G			29054544	29054544	-1	no_errors	ENST00000377173	ensembl	human	known	69_37n	missense	23	41.03	16	SNP	0.000	A
OR2L8	391190	genome.wustl.edu	37	1	248112738	248112738	+	Silent	SNP	C	C	A	rs60155834	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:248112738C>A	ENST00000357191.3	+	1	579	c.579C>A	c.(577-579)gtC>gtA	p.V193V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	193						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACACCTGGGTCTATGAGGGCA	0.468													C|||	187	0.0373403	0.0658	0.013	5008	,	,		18567	0.0347		0.0368	False		,,,				2504	0.0194					dbGAP											0													130.0	51.0	78.0					1																	248112738		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.579C>A	1.37:g.248112738C>A			Q6IF03	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V193	ENST00000357191.3	37	c.579	CCDS31101.1	1																																																																																			OR2L8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196936		0.468	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	57	0.00	0	C			248112738	248112738	+1	no_errors	ENST00000357191	ensembl	human	known	69_37n	silent	142	48.55	134	SNP	0.001	A
OR2T8	343172	genome.wustl.edu	37	1	248085011	248085011	+	Missense_Mutation	SNP	C	C	G	rs4595394	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:248085011C>G	ENST00000319968.4	+	1	692	c.692C>G	c.(691-693)gCc>gGc	p.A231G		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	231						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(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTACAGAAGCCCGCAAGAAG	0.517													C|||	1773	0.354034	0.2829	0.2723	5008	,	,		13941	0.5397		0.2127	False		,,,				2504	0.4622					dbGAP											0													10.0	10.0	10.0					1																	248085011		2046	4081	6127	-	-	-	SO:0001583	missense	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.692C>G	1.37:g.248085011C>G	ENSP00000326225:p.Ala231Gly			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A231G	ENST00000319968.4	37	c.692	CCDS31100.1	1	690	0.3159340659340659	141	0.2865853658536585	93	0.2569060773480663	308	0.5384615384615384	148	0.19525065963060687	C	2.075	-0.412164	0.04799	.	.	ENSG00000177462	ENST00000319968	T	0.00014	9.2	3.56	0.209	0.15226	GPCR, rhodopsin-like superfamily (1);	0.246533	0.21007	U	0.081750	T	0.00012	0.0000	N	0.00602	-1.34	0.58432	P	4.000000000004E-6	D	0.67145	0.996	D	0.72075	0.976	T	0.17930	-1.0353	9	0.02654	T	1	.	7.4212	0.27073	0.0:0.3221:0.5593:0.1186	rs4595394	231	A6NH00	OR2T8_HUMAN	G	231	ENSP00000326225:A231G	ENSP00000326225:A231G	A	+	2	0	OR2T8	246151634	0.002000	0.14202	0.002000	0.10522	0.023000	0.10783	0.406000	0.21032	0.191000	0.20236	-0.490000	0.04691	GCC	OR2T8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177462		0.517	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	23	0.00	0	C	NM_001005522		248085011	248085011	+1	no_errors	ENST00000319968	ensembl	human	known	69_37n	missense	30	58.90	43	SNP	0.131	G
OR2T33	391195	genome.wustl.edu	37	1	248436857	248436857	+	Missense_Mutation	SNP	C	C	T	rs137984104		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:248436857C>T	ENST00000318021.2	-	1	281	c.260G>A	c.(259-261)aGt>aAt	p.S87N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87N(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GATGGCCTTACTTCCGGTCAA	0.572																																						dbGAP											1	Substitution - Missense(1)	skin(1)											96.0	86.0	89.0					1																	248436857		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.260G>A	1.37:g.248436857C>T	ENSP00000324687:p.Ser87Asn		B2RNN0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S87N	ENST00000318021.2	37	c.260	CCDS31109.1	1	280	0.1282051282051282	21	0.042682926829268296	47	0.1298342541436464	136	0.23776223776223776	76	0.10026385224274406	-	0.156	-1.086530	0.01873	.	.	ENSG00000177212	ENST00000318021	T	0.03004	4.08	2.7	-5.39	0.02664	GPCR, rhodopsin-like superfamily (1);	0.665350	0.12301	N	0.481086	T	0.00012	0.0000	N	0.25380	0.74	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45571	-0.9252	10	0.07175	T	0.84	.	1.5682	0.02609	0.34:0.3409:0.1141:0.205	.	87	Q8NG76	O2T33_HUMAN	N	87	ENSP00000324687:S87N	ENSP00000324687:S87N	S	-	2	0	OR2T33	246503480	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.484000	0.02316	-2.190000	0.00757	-0.528000	0.04320	AGT	OR2T33	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177212		0.572	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	94	0.00	0	C	NM_001004695		248436857	248436857	-1	no_errors	ENST00000318021	ensembl	human	known	69_37n	missense	59	48.25	55	SNP	0.000	T
OR2T3	343173	genome.wustl.edu	37	1	248637115	248637115	+	Missense_Mutation	SNP	T	T	C	rs79056151		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:248637115T>C	ENST00000359594.2	+	1	489	c.464T>C	c.(463-465)gTt>gCt	p.V155A		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GCCTGCTGGGTTTTGGGAATG	0.522																																						dbGAP											0													23.0	25.0	25.0					1																	248637115		2157	4243	6400	-	-	-	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.464T>C	1.37:g.248637115T>C	ENSP00000352604:p.Val155Ala		B2RNJ1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V155A	ENST00000359594.2	37	c.464	CCDS31117.1	1	792	0.3626373626373626	190	0.3861788617886179	123	0.3397790055248619	251	0.4388111888111888	228	0.3007915567282322	t	7.612	0.674992	0.14841	.	.	ENSG00000196539	ENST00000359594	T	0.38722	1.12	2.37	-0.693	0.11298	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.10664	0.02	0.80722	P	0.0	B	0.26041	0.14	B	0.29524	0.103	T	0.48714	-0.9011	8	0.30078	T	0.28	.	8.9599	0.35840	0.0:0.0:0.5085:0.4915	.	155	Q8NH03	OR2T3_HUMAN	A	155	ENSP00000352604:V155A	ENSP00000352604:V155A	V	+	2	0	OR2T3	246703738	0.000000	0.05858	0.000000	0.03702	0.416000	0.31233	-0.323000	0.07997	-0.598000	0.05806	-1.427000	0.01099	GTT	OR2T3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196539		0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	48	0.00	0	T	NM_001005495		248637115	248637115	+1	no_errors	ENST00000359594	ensembl	human	known	69_37n	missense	58	41.41	41	SNP	0.000	C
OR2T3	343173	genome.wustl.edu	37	1	248637362	248637362	+	Silent	SNP	C	C	T	rs77686526	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:248637362C>T	ENST00000359594.2	+	1	736	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ATTCTGCCGCCGGCCACAGGA	0.562													.|||	1915	0.382388	0.3124	0.3775	5008	,	,		22676	0.503		0.2604	False		,,,				2504	0.4816					dbGAP											0													189.0	159.0	169.0					1																	248637362		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.711C>T	1.37:g.248637362C>T			B2RNJ1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A237	ENST00000359594.2	37	c.711	CCDS31117.1	1																																																																																			OR2T3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196539		0.562	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	134	0.00	0	C	NM_001005495		248637362	248637362	+1	no_errors	ENST00000359594	ensembl	human	known	69_37n	silent	88	31.25	40	SNP	0.000	T
OR2T27	403239	genome.wustl.edu	37	1	248813723	248813723	+	Missense_Mutation	SNP	C	C	T	rs138825902	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:248813723C>T	ENST00000344889.3	-	1	462	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGAAACCATCGATAGACCCT	0.577													C|||	690	0.13778	0.1906	0.0836	5008	,	,		19973	0.2599		0.0835	False		,,,				2504	0.0348					dbGAP											0													21.0	12.0	15.0					1																	248813723		2156	3870	6026	-	-	-	SO:0001583	missense	0				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.463G>A	1.37:g.248813723C>T	ENSP00000342008:p.Asp155Asn			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D155N	ENST00000344889.3	37	c.463	CCDS31124.1	1	325	0.1488095238095238	73	0.1483739837398374	33	0.09116022099447514	146	0.25524475524475526	73	0.09630606860158311	.	2.953	-0.216289	0.06101	.	.	ENSG00000187701	ENST00000344889	T	0.36520	1.25	3.3	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000647	T	0.00012	0.0000	N	0.03253	-0.375	0.80722	P	0.0	D	0.54964	0.969	P	0.51297	0.665	T	0.14392	-1.0474	9	0.16420	T	0.52	.	2.5773	0.04809	0.2123:0.4412:0.0:0.3465	.	155	Q8NH04	O2T27_HUMAN	N	155	ENSP00000342008:D155N	ENSP00000342008:D155N	D	-	1	0	OR2T27	246880346	0.000000	0.05858	0.049000	0.19019	0.021000	0.10359	-1.352000	0.02619	0.714000	0.32081	0.194000	0.17425	GAT	OR2T27	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187701		0.577	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	23	0.00	0	C	NM_001001824		248813723	248813723	-1	no_errors	ENST00000344889	ensembl	human	known	69_37n	missense	0	100.00	17	SNP	0.078	T
OR3A3	8392	genome.wustl.edu	37	17	3324004	3324004	+	Missense_Mutation	SNP	C	C	T	rs146946227	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:3324004C>T	ENST00000291231.1	+	1	143	c.143C>T	c.(142-144)aCt>aTt	p.T48I		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	48				T -> I (in Ref. 1; AAF37316/AC007194, 2; AAF03262, 3; AAD00250, 4; AAD00277 and 6; AAH69415). {ECO:0000305}.	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)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CTGGTCACAACTGGGGGCAAC	0.557													c|||	4013	0.801318	0.9614	0.7911	5008	,	,		20441	0.6032		0.83	False		,,,				2504	0.7669					dbGAP											0													8.0	9.0	9.0					17																	3324004		1996	4098	6094	-	-	-	SO:0001583	missense	0			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.143C>T	17.37:g.3324004C>T	ENSP00000291231:p.Thr48Ile		Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T48I	ENST00000291231.1	37	c.143	CCDS11025.1	17	1607	0.7358058608058609	424	0.8617886178861789	268	0.7403314917127072	339	0.5926573426573427	576	0.7598944591029023	C	9.810	1.182884	0.21870	.	.	ENSG00000159961	ENST00000291231	T	0.00357	7.89	2.7	0.339	0.15979	.	.	.	.	.	T	0.00012	0.0000	N	0.00093	-2.17	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48536	-0.9027	8	0.51188	T	0.08	.	9.2989	0.37833	0.0:0.1081:0.0:0.8919	rs227789;rs230393;rs909197;rs3744669;rs4060602;rs12936819;rs62091323;rs227789	48	P47888	OR3A3_HUMAN	I	48	ENSP00000291231:T48I	ENSP00000291231:T48I	T	+	2	0	OR3A3	3270754	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	0.093000	0.15086	0.021000	0.15133	-1.154000	0.01816	ACT	OR3A3	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000159961		0.557	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A3	HGNC	protein_coding	OTTHUMT00000207309.1	25	0.00	0	C			3324004	3324004	+1	no_errors	ENST00000291231	ensembl	human	known	69_37n	missense	6	68.42	13	SNP	0.002	T
OR4M2	390538	genome.wustl.edu	37	15	22369290	22369290	+	Missense_Mutation	SNP	A	A	G	rs12593418	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:22369290A>G	ENST00000332663.2	+	1	813	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	239			M -> V (in dbSNP:rs12593418).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M239V(1)		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)		CAACAGGGCCATGTCCACCTG	0.453																																						dbGAP											1	Substitution - Missense(1)	stomach(1)											288.0	199.0	229.0					15																	22369290		2203	4300	6503	-	-	-	SO:0001583	missense	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.715A>G	15.37:g.22369290A>G	ENSP00000329467:p.Met239Val		B9EH16|Q6IEY2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M239V	ENST00000332663.2	37	c.715	CCDS32172.1	15	566	0.2591575091575092	57	0.11585365853658537	114	0.3149171270718232	177	0.3094405594405594	218	0.287598944591029	.	6.608	0.480486	0.12581	.	.	ENSG00000182974	ENST00000332663	T	0.00044	8.83	2.28	-0.1	0.13621	GPCR, rhodopsin-like superfamily (1);	0.309717	0.27139	N	0.020757	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.31806	-0.9930	9	0.72032	D	0.01	-4.5993	5.3649	0.16107	0.6814:0.0:0.3186:0.0	rs12593418	239	Q8NGB6	OR4M2_HUMAN	V	239	ENSP00000329467:M239V	ENSP00000329467:M239V	M	+	1	0	OR4M2	19870654	0.000000	0.05858	0.993000	0.49108	0.973000	0.67179	-1.357000	0.02607	0.160000	0.19432	0.368000	0.22195	ATG	OR4M2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000182974		0.453	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	99	0.00	0	A			22369290	22369290	+1	no_errors	ENST00000332663	ensembl	human	known	69_37n	missense	315	52.05	342	SNP	0.332	G
OR4N4	283694	genome.wustl.edu	37	15	22382655	22382655	+	Missense_Mutation	SNP	A	A	C	rs535034	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:22382655A>C	ENST00000328795.4	+	1	274	c.183A>C	c.(181-183)ttA>ttC	p.L61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	61			L -> F (in dbSNP:rs535034). {ECO:0000269|Ref.1}.			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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		CCCTCTATTTATTTCTGGGCA	0.453																																						dbGAP											0													137.0	141.0	139.0					15																	22382655		2201	4292	6493	-	-	-	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.183A>C	15.37:g.22382655A>C	ENSP00000332500:p.Leu61Phe		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L61F	ENST00000328795.4	37	c.183	CCDS32173.1	15	563	0.25778388278388276	168	0.34146341463414637	88	0.2430939226519337	120	0.2097902097902098	187	0.24670184696569922	.	0.004	-2.313001	0.00237	.	.	ENSG00000183706	ENST00000328795	T	0.00529	6.78	3.24	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	N	0.000108	T	0.00012	0.0000	N	0.00109	-2.105	0.50632	P	1.2000000000000899E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.15521	-1.0434	9	0.02654	T	1	-7.3442	9.6854	0.40096	0.3717:0.6283:0.0:0.0	rs535034	61	Q8N0Y3	OR4N4_HUMAN	F	61	ENSP00000332500:L61F	ENSP00000332500:L61F	L	+	3	2	OR4N4	19884019	0.000000	0.05858	1.000000	0.80357	0.244000	0.25665	-1.741000	0.01837	0.182000	0.20032	-1.043000	0.02367	TTA	OR4N4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183706		0.453	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	179	0.00	0	A			22382655	22382655	+1	no_errors	ENST00000328795	ensembl	human	known	69_37n	missense	511	13.22	78	SNP	0.988	C
OR4N4	283694	genome.wustl.edu	37	15	22382728	22382728	+	Missense_Mutation	SNP	C	C	T	rs2808136	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:22382728C>T	ENST00000328795.4	+	1	347	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	86			L -> F (in dbSNP:rs2808136). {ECO:0000269|Ref.1}.			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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		GGTGGACTTCCTCTCTGAGAA	0.517																																						dbGAP											0													84.0	81.0	82.0					15																	22382728		2203	4298	6501	-	-	-	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.256C>T	15.37:g.22382728C>T	ENSP00000332500:p.Leu86Phe		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L86F	ENST00000328795.4	37	c.256	CCDS32173.1	15	514	0.23534798534798534	146	0.2967479674796748	81	0.22375690607734808	114	0.1993006993006993	173	0.22823218997361477	.	1.201	-0.632569	0.03584	.	.	ENSG00000183706	ENST00000328795	T	0.00479	7.12	3.2	0.0847	0.14439	GPCR, rhodopsin-like superfamily (1);	0.485335	0.15461	N	0.261126	T	0.00012	0.0000	L	0.55743	1.74	0.47245	P	6.340000000000234E-4	B	0.16802	0.019	B	0.17979	0.02	T	0.37314	-0.9711	9	0.41790	T	0.15	-9.7749	3.269	0.06875	0.0:0.3722:0.2141:0.4137	rs2808136;rs2808136	86	Q8N0Y3	OR4N4_HUMAN	F	86	ENSP00000332500:L86F	ENSP00000332500:L86F	L	+	1	0	OR4N4	19884092	0.000000	0.05858	1.000000	0.80357	0.084000	0.17831	-1.350000	0.02624	0.175000	0.19841	0.184000	0.17185	CTC	OR4N4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183706		0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	59	0.00	0	C			22382728	22382728	+1	no_errors	ENST00000328795	ensembl	human	known	69_37n	missense	314	12.78	46	SNP	0.784	T
OR51A2	401667	genome.wustl.edu	37	11	4976145	4976145	+	Missense_Mutation	SNP	C	C	G	rs56066301	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:4976145C>G	ENST00000380371.1	-	1	798	c.799G>C	c.(799-801)Ggg>Cgg	p.G267R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	267						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(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACATGCCCGGCAAAGCGG	0.453													.|||	1518	0.303115	0.2943	0.3256	5008	,	,		12159	0.369		0.3827	False		,,,				2504	0.1493					dbGAP											0													103.0	84.0	91.0					11																	4976145		2053	3748	5801	-	-	-	SO:0001583	missense	0			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.799G>C	11.37:g.4976145C>G	ENSP00000369729:p.Gly267Arg			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G267R	ENST00000380371.1	37	c.799	CCDS31368.1	11	.	.	.	.	.	.	.	.	.	.	-	4.961	0.178435	0.09443	.	.	ENSG00000205496	ENST00000380371	T	0.36878	1.23	3.26	0.582	0.17412	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.13457	0.0326	N	0.02379	-0.575	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.19321	-1.0309	8	0.34782	T	0.22	.	5.9614	0.19301	0.0:0.0962:0.383:0.5208	rs56066301	267	Q8NGJ7	O51A2_HUMAN	R	267	ENSP00000369729:G267R	ENSP00000369729:G267R	G	-	1	0	OR51A2	4932721	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.135000	0.10420	-0.363000	0.08101	-1.645000	0.00762	GGG	OR51A2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205496		0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A2	HGNC	protein_coding	OTTHUMT00000142809.1	57	0.00	0	C	NM_001004748		4976145	4976145	-1	no_errors	ENST00000380371	ensembl	human	known	69_37n	missense	0	100.00	11	SNP	0.000	G
OR5B21	219968	genome.wustl.edu	37	11	58274817	58274817	+	Silent	SNP	G	G	A	rs113780899		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:58274817G>A	ENST00000360374.2	-	1	761	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	254						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)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAAGTACATGAAGATGATTG	0.468																																						dbGAP											0													150.0	145.0	147.0					11																	58274817		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.762C>T	11.37:g.58274817G>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F254	ENST00000360374.2	37	c.762	CCDS31552.1	11																																																																																			OR5B21	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198283		0.468	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	142	0.00	0	G	NM_001005218		58274817	58274817	-1	no_errors	ENST00000360374	ensembl	human	known	69_37n	silent	79	36.29	45	SNP	1.000	A
OR6C74	254783	genome.wustl.edu	37	12	55641293	55641293	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:55641293C>T	ENST00000343870.4	+	1	312	c.222C>T	c.(220-222)gtC>gtT	p.V74V		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	74						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						TCACAACTGTCTACATTCCCA	0.398																																						dbGAP											0													173.0	173.0	173.0					12																	55641293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.222C>T	12.37:g.55641293C>T				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V74	ENST00000343870.4	37	c.222	CCDS31816.1	12																																																																																			OR6C74	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197706		0.398	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	77	0.00	0	C			55641293	55641293	+1	no_errors	ENST00000343870	ensembl	human	known	69_37n	silent	98	55.86	124	SNP	0.000	T
OR9G1	390174	genome.wustl.edu	37	11	56467914	56467914	+	Silent	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:56467914C>G	ENST00000312153.1	+	1	51	c.51C>G	c.(49-51)acC>acG	p.T17T		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	17						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)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGGCTTCACCACAGACCCAG	0.493																																						dbGAP											0													135.0	117.0	123.0					11																	56467914		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.51C>G	11.37:g.56467914C>G			Q6IEU9|Q8NGQ0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T17	ENST00000312153.1	37	c.51	CCDS31536.1	11																																																																																			OR9G1	-	NULL	ENSG00000174914		0.493	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G1	HGNC	protein_coding	OTTHUMT00000393253.1	91	0.00	0	C	NM_001005213		56467914	56467914	+1	no_errors	ENST00000312153	ensembl	human	known	69_37n	silent	65	42.98	49	SNP	0.000	G
OR8B8	26493	genome.wustl.edu	37	11	124310652	124310652	+	Silent	SNP	A	A	G	rs201203460	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:124310652A>G	ENST00000328064.2	-	1	402	c.330T>C	c.(328-330)tcT>tcC	p.S110S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	110					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		TGAAGGACTCAGAGACAACAA	0.468													A|||	2	0.000399361	0.0	0.0014	5008	,	,		23173	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													84.0	80.0	81.0					11																	124310652		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.330T>C	11.37:g.124310652A>G			A1L446|Q96RC8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S110	ENST00000328064.2	37	c.330	CCDS8446.1	11																																																																																			OR8B8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197125		0.468	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	123	0.00	0	A	NM_012378		124310652	124310652	-1	no_errors	ENST00000328064	ensembl	human	putative	69_37n	silent	63	34.38	33	SNP	0.974	G
OSBPL10	114884	genome.wustl.edu	37	3	31871604	31871604	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:31871604C>T	ENST00000396556.2	-	4	779	c.657G>A	c.(655-657)acG>acA	p.T219T	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	219					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)		ACTTGTGATGCGTGATTGTGA	0.567																																						dbGAP											0													65.0	60.0	62.0					3																	31871604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.657G>A	3.37:g.31871604C>T			B4E212|Q9BTU5	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T219	ENST00000396556.2	37	c.657	CCDS2651.1	3																																																																																			OSBPL10	-	NULL	ENSG00000144645		0.567	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	26	0.00	0	C			31871604	31871604	-1	no_errors	ENST00000396556	ensembl	human	known	69_37n	silent	19	52.50	21	SNP	0.998	T
OTOGL	283310	genome.wustl.edu	37	12	80615887	80615887	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:80615887C>T	ENST00000547103.1	+	6	330	c.324C>T	c.(322-324)aaC>aaT	p.N108N	OTOGL_ENST00000458043.2_Silent_p.N108N			Q3ZCN5	OTOGL_HUMAN	otogelin-like	108					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.N108N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACATGGGCAACGGCAGAGATG	0.368																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											101.0	97.0	98.0					12																	80615887		1838	4079	5917	-	-	-	SO:0001819	synonymous_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.324C>T	12.37:g.80615887C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	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.N108	ENST00000547103.1	37	c.324		12																																																																																			OTOGL	-	smart_VWF_type-D	ENSG00000165899		0.368	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	50	0.00	0	C	NM_173591		80615887	80615887	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	silent	125	45.41	104	SNP	0.992	T
OXCT2	64064	genome.wustl.edu	37	1	40235448	40235448	+	Missense_Mutation	SNP	C	C	T	rs150795467	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:40235448C>T	ENST00000327582.5	-	1	1572	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	494					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTTTTGATGTCGTCCACCGTC	0.632																																						dbGAP											0													41.0	40.0	40.0					1																	40235448		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1480G>A	1.37:g.40235448C>T	ENSP00000361914:p.Asp494Asn		B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.D494N	ENST00000327582.5	37	c.1480	CCDS445.1	1	.	.	.	.	.	.	.	.	.	.	c	14.42	2.530386	0.45073	.	.	ENSG00000198754	ENST00000327582	D	0.93247	-3.19	2.51	2.51	0.30379	3-oxoacid CoA-transferase, subunit B (1);	0.052044	0.64402	U	0.000001	D	0.94202	0.8139	.	.	.	0.37421	P	0.086372	D;D	0.60575	0.988;0.988	P;P	0.55785	0.784;0.71	D	0.95837	0.8863	8	0.62326	D	0.03	.	11.1506	0.48455	0.0:1.0:0.0:0.0	.	494;494	B3KS89;Q9BYC2	.;SCOT2_HUMAN	N	494	ENSP00000361914:D494N	ENSP00000361914:D494N	D	-	1	0	OXCT2	40008035	0.937000	0.31787	0.010000	0.14722	0.096000	0.18686	3.036000	0.49767	1.698000	0.51180	0.556000	0.70494	GAC	OXCT2	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B	ENSG00000198754		0.632	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	24	0.00	0	C	NM_022120		40235448	40235448	-1	no_errors	ENST00000327582	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	0.171	T
OXCT2	64064	genome.wustl.edu	37	1	40236074	40236074	+	Missense_Mutation	SNP	A	A	C	rs230321	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:40236074A>C	ENST00000327582.5	-	1	946	c.854T>G	c.(853-855)cTg>cGg	p.L285R	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	285			L -> R (in dbSNP:rs230321).		ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTCCTCTTTCAGGATCGTTAA	0.517											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													66.0	95.0	85.0					1																	40236074		2185	4292	6477	-	-	-	SO:0001583	missense	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.854T>G	1.37:g.40236074A>C	ENSP00000361914:p.Leu285Arg	891	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.L285R	ENST00000327582.5	37	c.854	CCDS445.1	1	478	0.21886446886446886	165	0.3353658536585366	83	0.2292817679558011	65	0.11363636363636363	165	0.21767810026385223	c	0.015	-1.566349	0.00903	.	.	ENSG00000198754	ENST00000327582	T	0.78707	-1.2	2.58	-2.11	0.07187	.	0.524948	0.19120	N	0.122206	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06409	-1.0828	8	0.02654	T	1	.	3.2824	0.06920	0.4418:0.2322:0.0:0.3259	rs230321;rs7554008	285;285	B3KS89;Q9BYC2	.;SCOT2_HUMAN	R	285	ENSP00000361914:L285R	ENSP00000361914:L285R	L	-	2	0	OXCT2	40008661	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.376000	0.07465	-0.958000	0.03622	-1.167000	0.01749	CTG	OXCT2	-	pirsf_3-oxoacid_CoA-transferase	ENSG00000198754		0.517	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	110	0.00	0	A	NM_022120		40236074	40236074	-1	no_errors	ENST00000327582	ensembl	human	known	69_37n	missense	0	100.00	13	SNP	0.000	C
P2RX7	5027	genome.wustl.edu	37	12	121614976	121614976	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:121614976delG	ENST00000546057.1	+	10	1142	c.999delG	c.(997-999)ctgfs	p.L333fs	P2RX7_ENST00000328963.5_Frame_Shift_Del_p.L163fs|P2RX7_ENST00000377162.2_Frame_Shift_Del_p.L244fs|P2RX7_ENST00000535250.1_Frame_Shift_Del_p.L243fs|P2RX7_ENST00000541446.1_Frame_Shift_Del_p.L44fs|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	333					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTATCCAGCTGGTTGTGTACA	0.433																																						dbGAP											0													169.0	147.0	155.0					12																	121614976		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.999delG	12.37:g.121614976delG	ENSP00000442349:p.Leu333fs		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Frame_Shift_Del	DEL	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.V334fs	ENST00000546057.1	37	c.999	CCDS9213.1	12																																																																																			P2RX7	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000089041		0.433	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1	71	0.00	0	G	NM_002562		121614976	121614976	+1	no_errors	ENST00000546057	ensembl	human	known	69_37n	frame_shift_del	106	59.57	168	DEL	0.732	-
P4HA2	8974	genome.wustl.edu	37	5	131553427	131553427	+	Intron	SNP	G	G	A	rs188406019	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:131553427G>A	ENST00000401867.1	-	4	748				P4HA2_ENST00000379086.1_Intron|P4HA2_ENST00000360568.3_Intron|P4HA2_ENST00000379104.2_Intron|P4HA2_ENST00000379100.2_Intron|P4HA2_ENST00000166534.4_Intron			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II						peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACTAAGGATGGTTGGGGACTT	0.502													G|||	162	0.0323482	0.0038	0.0418	5008	,	,		20669	0.0		0.0805	False		,,,				2504	0.0481				Esophageal Squamous(68;117 1135 17362 19256 34242)	dbGAP											0													123.0	116.0	119.0					5																	131553427		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.179+17C>T	5.37:g.131553427G>A			D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	NULL	p.T27I	ENST00000401867.1	37	c.80	CCDS4151.1	5																																																																																			P4HA2	-	NULL	ENSG00000072682		0.502	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	63	0.00	0	G	NM_004199		131553427	131553427	-1	no_errors	ENST00000433701	ensembl	human	known	69_37n	missense	67	35.58	37	SNP	0.003	A
PABPC4L	132430	genome.wustl.edu	37	4	135121066	135121066	+	Missense_Mutation	SNP	T	T	G	rs11099273	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:135121066T>G	ENST00000421491.3	-	2	1365	c.1109A>C	c.(1108-1110)cAc>cCc	p.H370P	PABPC4L_ENST00000529122.2_Missense_Mutation_p.H428P			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	370			H -> P (in dbSNP:rs11099273).				nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						TCTTTCCTAGTGTCTCTGGGC	0.463													T|||	3155	0.629992	0.6936	0.536	5008	,	,		15139	0.9841		0.329	False		,,,				2504	0.5552					dbGAP											0													32.0	27.0	29.0					4																	135121066		692	1591	2283	-	-	-	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.1109A>C	4.37:g.135121066T>G	ENSP00000463233:p.His370Pro			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.H428P	ENST00000421491.3	37	c.1283		4																																																																																			PABPC4L	-	NULL	ENSG00000254535		0.463	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	61	0.00	0	T	NM_001114734		135121066	135121066	-1	no_errors	ENST00000529122	ensembl	human	known	69_37n	missense	0	100.00	41	SNP	0.001	G
PASK	23178	genome.wustl.edu	37	2	242054403	242054403	+	Intron	SNP	G	G	A	rs3815305	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:242054403G>A	ENST00000405260.1	-	14	4032				PASK_ENST00000475666.1_5'Flank|PASK_ENST00000403638.3_Missense_Mutation_p.R1130W|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000358649.4_Intron|PASK_ENST00000544142.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase						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)		TGCAGCCACCGGACCCAGGCA	0.547													G|||	1220	0.24361	0.3162	0.2291	5008	,	,		18665	0.4147		0.0974	False		,,,				2504	0.1299					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.3333+54C>T	2.37:g.242054403G>A			G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_PAS_fold,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.R1130W	ENST00000405260.1	37	c.3388	CCDS2545.1	2	531	0.24313186813186813	146	0.2967479674796748	72	0.19889502762430938	237	0.4143356643356643	76	0.10026385224274406	G	10.73	1.432611	0.25813	.	.	ENSG00000115687	ENST00000403638	T	0.51817	0.69	3.78	-2.3	0.06785	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	7	0.87932	D	0	.	6.7909	0.23699	0.2611:0.1384:0.6005:0.0	rs3815305;rs61610946;rs3815305	1130	G5E9F1	.	W	1130	ENSP00000384438:R1130W	ENSP00000384438:R1130W	R	-	1	2	PASK	241703076	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.947000	0.03901	-0.677000	0.05231	-0.416000	0.06073	CGG	PASK	-	pfscan_Prot_kinase_cat_dom	ENSG00000115687		0.547	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	13	0.00	0	G	NM_015148		242054403	242054403	-1	no_errors	ENST00000403638	ensembl	human	putative	69_37n	missense	12	52.00	13	SNP	0.000	A
PCDHA11	56138	genome.wustl.edu	37	5	140250655	140250655	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:140250655C>T	ENST00000398640.2	+	1	1967	c.1967C>T	c.(1966-1968)cCg>cTg	p.P656L	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCGGCGCTGACG	0.677																																						dbGAP											0													31.0	37.0	35.0					5																	140250655		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1967C>T	5.37:g.140250655C>T	ENSP00000381636:p.Pro656Leu		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P656L	ENST00000398640.2	37	c.1967	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563416	0.27915	.	.	ENSG00000249158	ENST00000398640	T	0.57436	0.4	4.61	3.73	0.42828	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77068	0.4076	M	0.91406	3.205	0.43421	D	0.995575	D;D	0.89917	1.0;1.0	D;D	0.77557	0.97;0.99	T	0.82637	-0.0359	9	0.87932	D	0	.	14.2284	0.65875	0.0:0.8494:0.1506:0.0	.	656;656	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	656	ENSP00000381636:P656L	ENSP00000381636:P656L	P	+	2	0	PCDHA11	140230839	0.007000	0.16637	0.015000	0.15790	0.004000	0.04260	1.619000	0.36965	0.903000	0.36546	0.561000	0.74099	CCG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	18	0.00	0	C	NM_018902		140250655	140250655	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	0.928	T
PCDHB18	54660	genome.wustl.edu	37	5	140616118	140616118	+	RNA	SNP	G	G	C	rs201185970	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:140616118G>C	ENST00000526308.1	+	0	2181					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCCTGGTGGAGGGCTTCTCTC	0.701													C|||	13	0.00259585	0.0	0.0	5008	,	,		15414	0.0		0.0099	False		,,,				2504	0.0031					dbGAP											0																																										-	-	-			0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616118G>C			B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-	ENSG00000146001		0.701	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	13	0.00	0	G			140616118	140616118	+1	no_errors	ENST00000526308	ensembl	human	known	69_37n	rna	4	55.56	5	SNP	0.874	C
PCDHGA3	56112	genome.wustl.edu	37	5	140725481	140725481	+	Silent	SNP	C	C	T	rs199541335		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:140725481C>T	ENST00000253812.6	+	1	1881	c.1881C>T	c.(1879-1881)cgC>cgT	p.R627R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	627	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGTGCGCACGGCGCGAG	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		15297	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													8.0	12.0	11.0					5																	140725481		1983	3985	5968	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1881C>T	5.37:g.140725481C>T			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R627	ENST00000253812.6	37	c.1881	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.692	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	12	0.00	0	C	NM_018916		140725481	140725481	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	2	60.00	3	SNP	1.000	T
PCDHGA8	9708	genome.wustl.edu	37	5	140774749	140774749	+	Missense_Mutation	SNP	C	C	T	rs143509166		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:140774749C>T	ENST00000398604.2	+	1	2369	c.2369C>T	c.(2368-2370)tCt>tTt	p.S790F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	790					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATGATTCTTTGTTAACA	0.433													.|||	1	0.000199681	0.0	0.0	5008	,	,		19493	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													58.0	62.0	61.0					5																	140774749		2165	4284	6449	-	-	-	SO:0001583	missense	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2369C>T	5.37:g.140774749C>T	ENSP00000381605:p.Ser790Phe		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S790F	ENST00000398604.2	37	c.2369	CCDS47291.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	4.844	0.156958	0.09236	.	.	ENSG00000253767	ENST00000398604	T	0.48522	0.81	4.5	3.63	0.41609	.	.	.	.	.	T	0.29028	0.0721	N	0.11064	0.09	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.16748	-1.0392	9	0.30078	T	0.28	.	11.4119	0.49931	0.0:0.9107:0.0:0.0893	.	790;790	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	790	ENSP00000381605:S790F	ENSP00000381605:S790F	S	+	2	0	PCDHGA8	140754933	0.263000	0.24083	0.002000	0.10522	0.016000	0.09150	5.284000	0.65627	1.121000	0.41925	0.655000	0.94253	TCT	PCDHGA8	-	NULL	ENSG00000253767		0.433	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	47	0.00	0	C	NM_032088		140774749	140774749	+1	no_errors	ENST00000398604	ensembl	human	known	69_37n	missense	66	34.00	34	SNP	0.036	T
PCK2	5106	genome.wustl.edu	37	14	24569343	24569343	+	Silent	SNP	C	C	T	rs564021964	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:24569343C>T	ENST00000216780.4	+	7	1423	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Silent_p.G397G|PCK2_ENST00000561286.1_Silent_p.G251G|PCK2_ENST00000396973.4_Silent_p.G385G|PCK2_ENST00000545054.2_Silent_p.G251G|PCK2_ENST00000558096.1_Silent_p.G251G	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	385					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GTGATGGTGGCGTGTACTGGG	0.562													C|||	3	0.000599042	0.0	0.0	5008	,	,		20555	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													126.0	96.0	106.0					14																	24569343		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1155C>T	14.37:g.24569343C>T			O43253|Q86U01|Q9BV62	Silent	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.G385	ENST00000216780.4	37	c.1155	CCDS9609.1	14																																																																																			PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.562	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	41	0.00	0	C	NM_001018073		24569343	24569343	+1	no_errors	ENST00000216780	ensembl	human	known	69_37n	silent	43	50.00	43	SNP	0.889	T
PDE3B	5140	genome.wustl.edu	37	11	14880747	14880747	+	Silent	SNP	G	G	A	rs373308149		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:14880747G>A	ENST00000282096.4	+	13	3032	c.2679G>A	c.(2677-2679)acG>acA	p.T893T	PDE3B_ENST00000455098.2_Silent_p.T842T	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	893	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCCTTGCTACGGATCTTAAAA	0.343																																						dbGAP											0													115.0	103.0	107.0					11																	14880747		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2679G>A	11.37:g.14880747G>A			B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.T893	ENST00000282096.4	37	c.2679	CCDS7817.1	11																																																																																			PDE3B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000152270		0.343	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1	45	0.00	0	G	NM_000922		14880747	14880747	+1	no_errors	ENST00000282096	ensembl	human	known	69_37n	silent	154	49.84	154	SNP	1.000	A
PCNXL3	399909	genome.wustl.edu	37	11	65388360	65388360	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:65388360G>A	ENST00000355703.3	+	10	2697	c.2158G>A	c.(2158-2160)Ggc>Agc	p.G720S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	720						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGCTACAGGCGGCCTGAACCT	0.677																																						dbGAP											0													14.0	17.0	16.0					11																	65388360		2016	4166	6182	-	-	-	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.2158G>A	11.37:g.65388360G>A	ENSP00000347931:p.Gly720Ser		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.G720S	ENST00000355703.3	37	c.2158	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631706	0.46944	.	.	ENSG00000197136	ENST00000355703	T	0.24908	1.83	5.24	3.36	0.38483	.	.	.	.	.	T	0.11623	0.0283	L	0.29908	0.895	0.30562	N	0.764375	P	0.35272	0.493	B	0.16289	0.015	T	0.19224	-1.0312	9	0.05351	T	0.99	.	8.097	0.30835	0.1882:0.0:0.8118:0.0	.	720	Q9H6A9	PCX3_HUMAN	S	720	ENSP00000347931:G720S	ENSP00000347931:G720S	G	+	1	0	PCNXL3	65144936	0.993000	0.37304	0.602000	0.28890	0.988000	0.76386	2.251000	0.43187	0.579000	0.29504	0.555000	0.69702	GGC	PCNXL3	-	NULL	ENSG00000197136		0.677	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	25	0.00	0	G	NM_032223		65388360	65388360	+1	no_errors	ENST00000355703	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.970	A
PDXDC2P	283970	genome.wustl.edu	37	16	70045749	70045749	+	RNA	SNP	G	G	A	rs386791856|rs11648231	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:70045749G>A	ENST00000531894.1	-	0	1456					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)	p.L429F(1)									CTCACCCAGAGATTCAGCGCA	0.577													g|||	694	0.138578	0.0121	0.1239	5008	,	,		16891	0.1964		0.1561	False		,,,				2504	0.2423					dbGAP											1	Substitution - Missense(1)	endometrium(1)																																								-	-	-			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.70045749G>A			A8K9Z5	RNA	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			PDXDC2P	-	-	ENSG00000196696		0.577	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	HGNC	processed_transcript	OTTHUMT00000395258.1	40	0.00	0	G			70045749	70045749	-1	no_errors	ENST00000525331	ensembl	human	known	69_37n	rna	8	38.46	5	SNP	0.998	A
PDZRN4	29951	genome.wustl.edu	37	12	41961629	41961629	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:41961629G>A	ENST00000402685.2	+	9	1520	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	PDZRN4_ENST00000298919.7_Silent_p.E244E|PDZRN4_ENST00000539469.2_Silent_p.E246E	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	504							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AATTCTTAGAGGAGTTAAACT	0.393																																						dbGAP											0													91.0	85.0	87.0					12																	41961629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1512G>A	12.37:g.41961629G>A			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E504	ENST00000402685.2	37	c.1512	CCDS53777.1	12																																																																																			PDZRN4	-	NULL	ENSG00000165966		0.393	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	59	0.00	0	G	NM_013377		41961629	41961629	+1	no_errors	ENST00000402685	ensembl	human	known	69_37n	silent	36	63.64	63	SNP	1.000	A
PGC	5225	genome.wustl.edu	37	6	41708938	41708938	+	Intron	SNP	C	C	G	rs4711690	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:41708938C>G	ENST00000373025.3	-	6	710				PGC_ENST00000425343.2_Missense_Mutation_p.Q241H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)						digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCTCTGGTAGCTGGAGTGTGG	0.502													C|||	1061	0.211861	0.27	0.2853	5008	,	,		16480	0.254		0.1282	False		,,,				2504	0.1237					dbGAP											0													68.0	66.0	66.0					6																	41708938		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.648-590G>C	6.37:g.41708938C>G			B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic	p.Q241H	ENST00000373025.3	37	c.723	CCDS4859.1	6	474	0.21703296703296704	143	0.29065040650406504	88	0.2430939226519337	147	0.256993006993007	96	0.1266490765171504	C	11.13	1.548399	0.27652	.	.	ENSG00000096088	ENST00000425343	T	0.61040	0.14	2.66	-2.47	0.06442	.	.	.	.	.	T	0.26268	0.0641	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.34428	-0.9829	5	0.66056	D	0.02	.	1.0076	0.01490	0.365:0.2559:0.2457:0.1334	rs4711690;rs4711690	.	.	.	H	241	ENSP00000405094:Q241H	ENSP00000405094:Q241H	Q	-	3	2	PGC	41816916	0.000000	0.05858	0.000000	0.03702	0.417000	0.31264	-0.514000	0.06298	-0.586000	0.05898	0.561000	0.74099	CAG	PGC	-	NULL	ENSG00000096088		0.502	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	HGNC	protein_coding	OTTHUMT00000040521.2	210	0.00	0	C			41708938	41708938	-1	no_errors	ENST00000425343	ensembl	human	known	69_37n	missense	0	100.00	123	SNP	0.000	G
PEX6	5190	genome.wustl.edu	37	6	42936109	42936109	+	Missense_Mutation	SNP	C	C	T	rs138431842		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:42936109C>T	ENST00000304611.8	-	7	1676	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	PEX6_ENST00000244546.4_Missense_Mutation_p.R536Q	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	536					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ATCACGGTCCCGGCCCAGAAG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17019	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													40.0	41.0	41.0					6																	42936109		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1607G>A	6.37:g.42936109C>T	ENSP00000303511:p.Arg536Gln		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R536Q	ENST00000304611.8	37	c.1607	CCDS4877.1	6	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.23	2.474897	0.43942	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.93189	-3.18;-3.18	6.08	4.31	0.51392	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.117976	0.56097	D	0.000037	D	0.82300	0.5007	L	0.46947	1.48	0.36198	D	0.850562	P	0.37207	0.587	B	0.31390	0.129	T	0.78692	-0.2105	10	0.30078	T	0.28	-12.2594	10.2589	0.43414	0.0:0.8459:0.0:0.1541	.	536	Q13608	PEX6_HUMAN	Q	536	ENSP00000303511:R536Q;ENSP00000244546:R536Q	ENSP00000244546:R536Q	R	-	2	0	PEX6	43044087	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.063000	0.41423	0.910000	0.36722	0.655000	0.94253	CGG	PEX6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000124587		0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	19	0.00	0	C	NM_000287		42936109	42936109	-1	no_errors	ENST00000304611	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88782079	88782079	+	Silent	SNP	G	G	A	rs1061228	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:88782079G>A	ENST00000301015.9	-	51	7746	c.7500C>T	c.(7498-7500)taC>taT	p.Y2500Y	PIEZO1_ENST00000327397.7_Missense_Mutation_p.R356C|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	2500					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						TGAGCTTGGCGTACAACTCCT	0.617													G|||	432	0.086262	0.0159	0.1369	5008	,	,		15983	0.126		0.1193	False		,,,				2504	0.0706					dbGAP											0													73.0	66.0	68.0					16																	88782079		692	1589	2281	-	-	-	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.7500C>T	16.37:g.88782079G>A			A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.R356C	ENST00000301015.9	37	c.1066	CCDS54058.1	16	246	0.11263736263736264	10	0.02032520325203252	51	0.1408839779005525	94	0.16433566433566432	91	0.12005277044854881	G	10.73	1.432739	0.25813	.	.	ENSG00000103335	ENST00000451779;ENST00000327397	T	0.69926	-0.44	4.74	-2.49	0.06403	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.37292	P	0.091696	B	0.06786	0.001	B	0.04013	0.001	T	0.08700	-1.0709	7	0.87932	D	0	-15.9375	10.3786	0.44096	0.5308:0.0:0.4692:0.0	rs1061228;rs17845148;rs17857952	356	E7EUT2	.	C	2446;356	ENSP00000333704:R356C	ENSP00000333704:R356C	R	-	1	0	FAM38A	87309580	0.994000	0.37717	0.102000	0.21198	0.973000	0.67179	0.261000	0.18442	-0.670000	0.05282	-0.258000	0.10820	CGC	PIEZO1	-	NULL	ENSG00000103335		0.617	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	21	0.00	0	G	NM_014745		88782079	88782079	-1	no_errors	ENST00000327397	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.999	A
PIEZO1	9780	genome.wustl.edu	37	16	88783014	88783014	+	Silent	SNP	G	G	A	rs558982192		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:88783014G>A	ENST00000301015.9	-	47	7125	c.6879C>T	c.(6877-6879)taC>taT	p.Y2293Y	PIEZO1_ENST00000327397.7_Silent_p.Y161Y|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	2293					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						CCGTGCCGTTGTAGAGCTCCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		19047	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													39.0	40.0	40.0					16																	88783014		692	1590	2282	-	-	-	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.6879C>T	16.37:g.88783014G>A			A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.T1135I	ENST00000301015.9	37	c.3404	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.334215	0.01287	.	.	ENSG00000103335	ENST00000451779	.	.	.	4.67	1.57	0.23409	.	.	.	.	.	.	.	.	.	.	.	0.48395	D	0.999642	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.5524	1.6029	0.02678	0.258:0.1387:0.4612:0.142	.	.	.	.	X	2239	.	.	Q	-	1	0	FAM38A	87310515	0.703000	0.27826	0.329000	0.25429	0.004000	0.04260	0.567000	0.23608	0.412000	0.25729	-0.251000	0.11542	CAA	PIEZO1	-	pfam_DUF3595	ENSG00000103335		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	15	0.00	0	G	NM_014745		88783014	88783014	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000451779	ensembl	human	putative	69_37n	missense	1	83.33	5	SNP	0.709	A
PIGG	54872	genome.wustl.edu	37	4	532976	532976	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:532976G>A	ENST00000453061.2	+	13	2876	c.2770G>A	c.(2770-2772)Gca>Aca	p.A924T	PIGG_ENST00000504346.1_Missense_Mutation_p.A835T|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.A791T|PIGG_ENST00000310340.5_Missense_Mutation_p.A916T	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	924					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						CTTCTGCTACGCACTGATTTG	0.363																																						dbGAP											0													176.0	154.0	162.0					4																	532976		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.2770G>A	4.37:g.532976G>A	ENSP00000415203:p.Ala924Thr		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A924T	ENST00000453061.2	37	c.2770	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255902	0.80135	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.91	5.91	0.95273	.	0.052785	0.85682	D	0.000000	T	0.51227	0.1662	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.65874	0.939;0.836;0.921	T	0.39800	-0.9596	10	0.19590	T	0.45	-14.1865	17.7902	0.88550	0.0:0.0:1.0:0.0	.	791;924;916	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	T	916;924;835;791;80	ENSP00000311750:A916T;ENSP00000415203:A924T;ENSP00000424800:A835T;ENSP00000372494:A791T	ENSP00000311750:A916T	A	+	1	0	PIGG	522976	1.000000	0.71417	0.940000	0.37924	0.480000	0.33159	6.716000	0.74702	2.813000	0.96785	0.655000	0.94253	GCA	PIGG	-	NULL	ENSG00000174227		0.363	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	75	0.00	0	G	NM_017733		532976	532976	+1	no_errors	ENST00000453061	ensembl	human	known	69_37n	missense	99	47.92	92	SNP	1.000	A
PIK3R1	5295	genome.wustl.edu	37	5	67589188	67589188	+	Silent	SNP	C	C	T	rs3730090	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:67589188C>T	ENST00000521381.1	+	10	1792	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	PIK3R1_ENST00000523872.1_Silent_p.F29F|PIK3R1_ENST00000336483.5_Silent_p.F122F|PIK3R1_ENST00000320694.8_Silent_p.F92F|PIK3R1_ENST00000274335.5_Silent_p.F392F|PIK3R1_ENST00000521657.1_Silent_p.F392F|PIK3R1_ENST00000396611.1_Silent_p.F392F	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	392	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATATGGCTTCTCTGACCCAT	0.313			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											52.0	58.0	56.0					5																	67589188		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1176C>T	5.37:g.67589188C>T			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.F392	ENST00000521381.1	37	c.1176	CCDS3993.1	5																																																																																			PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85	ENSG00000145675		0.313	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	83	0.00	0	C	NM_181504		67589188	67589188	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	silent	103	56.17	132	SNP	1.000	T
PKD1L3	342372	genome.wustl.edu	37	16	72020218	72020218	+	RNA	SNP	G	G	A	rs117071849	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:72020218G>A	ENST00000534738.1	-	0	735							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						GCCAGAGATTGCCCAGCATGC	0.507													G|||	33	0.00658946	0.0	0.0	5008	,	,		20089	0.0317		0.0	False		,,,				2504	0.001					dbGAP											0													230.0	176.0	192.0					16																	72020218		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.72020218G>A				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.507	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	73	0.00	0	G	NM_181536		72020218	72020218	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	60	34.41	32	SNP	0.000	A
PKD1L2	114780	genome.wustl.edu	37	16	81208198	81208198	+	RNA	SNP	G	G	A	rs574089583		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:81208198G>A	ENST00000527937.1	-	0	786				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_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						GGTGTCAGCCGCTTGGGAGAC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19672	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			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.81208198G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like	p.R225W	ENST00000527937.1	37	c.673		16	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580945	0.46006	.	.	ENSG00000166473	ENST00000527937	T	0.23754	1.89	3.39	-5.43	0.02632	.	.	.	.	.	T	0.13329	0.0323	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	8	0.87932	D	0	.	1.4408	0.02353	0.2193:0.3018:0.33:0.1489	.	225	Q7Z442-6	.	W	225	ENSP00000432818:R225W	ENSP00000432818:R225W	R	-	1	2	PKD1L2	79765699	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.291000	0.02775	-1.179000	0.02737	-1.267000	0.01435	CGG	PKD1L2	-	pfscan_REJ-like	ENSG00000166473		0.552	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	12	0.00	0	G			81208198	81208198	-1	no_errors	ENST00000527937	ensembl	human	known	69_37n	missense	0	100.00	12	SNP	0.000	A
PLEC	5339	genome.wustl.edu	37	8	145024476	145024476	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:145024476C>T	ENST00000322810.4	-	1	568	c.399G>A	c.(397-399)ccG>ccA	p.P133P	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	133	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						GCTCCTCCGTCGGCAGCGGCC	0.726																																						dbGAP											0													9.0	13.0	12.0					8																	145024476		1838	4012	5850	-	-	-	SO:0001819	synonymous_variant	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.399G>A	8.37:g.145024476C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	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.P133	ENST00000322810.4	37	c.399	CCDS43772.1	8																																																																																			PLEC	-	NULL	ENSG00000178209		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	23	0.00	0	C	NM_000445		145024476	145024476	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	silent	9	35.71	5	SNP	0.000	T
PLGLA	285189	genome.wustl.edu	37	2	107007576	107007576	+	RNA	SNP	A	A	T	rs60043380	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:107007576A>T	ENST00000484422.1	+	0	425							Q15195	PLGA_HUMAN	plasminogen-like A (pseudogene)							extracellular region (GO:0005576)											accaaaatccatgcttctcaa	0.408													.|||	2285	0.45627	0.444	0.4726	5008	,	,		20066	0.2103		0.6193	False		,,,				2504	0.547					dbGAP											0																																										-	-	-			0			U67178, M86872, M86873		2q12.2	2013-03-28	2013-03-28	2008-02-07	ENSG00000240935	ENSG00000240935			9074	pseudogene	pseudogene		612212	"""plasminogen pseudogene 2"", ""plasminogen-like A1"", ""plasminogen-like A"""	PLGP2, PLGLA1		1986355	Standard	NR_003506		Approved		uc002tdp.4	Q15195	OTTHUMG00000153188		2.37:g.107007576A>T				RNA	SNP	-	NULL	ENST00000484422.1	37	NULL		2																																																																																			PLGLA	-	-	ENSG00000240935		0.408	PLGLA-002	KNOWN	basic	processed_transcript	PLGLA	HGNC	pseudogene	OTTHUMT00000331219.1	61	0.00	0	A	NR_003506.2		107007576	107007576	+1	no_errors	ENST00000484422	ensembl	human	known	69_37n	rna	0	100.00	63	SNP	0.307	T
PLRG1	5356	genome.wustl.edu	37	4	155466998	155466998	+	Missense_Mutation	SNP	G	G	A	rs547768914		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:155466998G>A	ENST00000499023.2	-	6	608	c.482C>T	c.(481-483)gCg>gTg	p.A161V	RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000393905.2_Missense_Mutation_p.A161V|PLRG1_ENST00000302078.5_Missense_Mutation_p.A152V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	161					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGAATTCATCGCTGTAGGCTG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		15555	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													66.0	60.0	62.0					4																	155466998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.482C>T	4.37:g.155466998G>A	ENSP00000424417:p.Ala161Val		B3KMK4|Q3KQY5|Q8WUD8	Nonsense_Mutation	SNP	NULL	p.R131*	ENST00000499023.2	37	c.391	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331753	0.41297	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.61392	0.11;0.11;0.12	5.35	-3.73	0.04398	.	0.616647	0.18101	N	0.151683	T	0.33990	0.0882	N	0.19112	0.55	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.04013	0.001;0.001	T	0.13361	-1.0512	10	0.34782	T	0.22	-0.954	8.8431	0.35153	0.3609:0.4764:0.1627:0.0	.	152;161	O43660-2;O43660	.;PLRG1_HUMAN	V	161;161;152;159	ENSP00000424417:A161V;ENSP00000377483:A161V;ENSP00000303191:A152V	ENSP00000303191:A152V	A	-	2	0	PLRG1	155686448	0.028000	0.19301	0.001000	0.08648	0.121000	0.20230	0.103000	0.15292	-0.505000	0.06568	-0.142000	0.14014	GCG	PLRG1	-	NULL	ENSG00000171566		0.413	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	27	0.00	0	G	NM_002669		155466998	155466998	-1	no_errors	ENST00000506192	ensembl	human	known	69_37n	nonsense	54	50.00	54	SNP	0.003	A
PLSCR2	57047	genome.wustl.edu	37	3	146177815	146177815	+	Silent	SNP	C	C	T	rs6806535	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:146177815C>T	ENST00000497985.1	-	4	535	c.96G>A	c.(94-96)caG>caA	p.Q32Q	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	32	Proline-rich domain (PRD). {ECO:0000250}.				phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GGTGGTCAGCCTGTTTCCCAG	0.527													C|||	2642	0.527556	0.2625	0.5865	5008	,	,		16382	0.6062		0.5636	False		,,,				2504	0.726					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.96G>A	3.37:g.146177815C>T			B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.Q32	ENST00000497985.1	37	c.96	CCDS56284.1	3																																																																																			PLSCR2	-	NULL	ENSG00000163746		0.527	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	PLSCR2	HGNC	protein_coding	OTTHUMT00000355264.1	66	0.00	0	C	NM_020359		146177815	146177815	-1	no_errors	ENST00000497985	ensembl	human	putative	69_37n	silent	0	100.00	58	SNP	0.000	T
PMS2CL	441194	genome.wustl.edu	37	7	6776956	6776956	+	RNA	SNP	A	A	G	rs7804542	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:6776956A>G	ENST00000486256.1	+	0	1083					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		ATCTCTGACAAAGGCGTCCTG	0.557													G|||	1418	0.283147	0.3321	0.2219	5008	,	,		16629	0.3413		0.2078	False		,,,				2504	0.2781					dbGAP											0																																										-	-	-			0			BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776956A>G			B4DK88|Q764P1	RNA	SNP	-	NULL	ENST00000486256.1	37	NULL		7																																																																																			PMS2CL	-	-	ENSG00000187953		0.557	PMS2CL-002	KNOWN	basic	processed_transcript	PMS2CL	HGNC	pseudogene	OTTHUMT00000324193.1	42	0.00	0	A	NR_002217		6776956	6776956	+1	no_errors	ENST00000486256	ensembl	human	known	69_37n	rna	65	41.96	47	SNP	0.000	G
PMS2CL	441194	genome.wustl.edu	37	7	6777369	6777369	+	RNA	SNP	T	T	C	rs35291651	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:6777369T>C	ENST00000486256.1	+	0	1496					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		ACGTGTCAGCTTCTCAGGTTG	0.348													C|||	1218	0.243211	0.2534	0.1758	5008	,	,		16064	0.3413		0.165	False		,,,				2504	0.2566					dbGAP											0																																										-	-	-			0			BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6777369T>C			B4DK88|Q764P1	RNA	SNP	-	NULL	ENST00000486256.1	37	NULL		7																																																																																			PMS2CL	-	-	ENSG00000187953		0.348	PMS2CL-002	KNOWN	basic	processed_transcript	PMS2CL	HGNC	pseudogene	OTTHUMT00000324193.1	64	0.00	0	T	NR_002217		6777369	6777369	+1	no_errors	ENST00000431453	ensembl	human	known	69_37n	rna	125	37.19	74	SNP	0.000	C
PMS2P4	5382	genome.wustl.edu	37	7	66762277	66762277	+	RNA	SNP	C	C	T	rs1136533	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:66762277C>T	ENST00000414507.1	-	0	197				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		CTCCATAGTCCTTAAGCTTTA	0.383																																						dbGAP											0																																										-	-	-			0			D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762277C>T				RNA	SNP	-	NULL	ENST00000414507.1	37	NULL		7																																																																																			PMS2P4	-	-	ENSG00000067601		0.383	PMS2P4-002	KNOWN	basic	processed_transcript	PMS2P4	HGNC	pseudogene	OTTHUMT00000346632.1	37	0.00	0	C	NR_022007		66762277	66762277	-1	no_errors	ENST00000414507	ensembl	human	known	69_37n	rna	66	23.26	20	SNP	1.000	T
POFUT2	23275	genome.wustl.edu	37	21	46685175	46685175	+	3'UTR	SNP	A	A	G	rs11558445	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr21:46685175A>G	ENST00000349485.5	-	0	1538				POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'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)		AACAACCGCCACCCCCGAGAG	0.657													G|||	2205	0.440296	0.5431	0.2594	5008	,	,		15327	0.4643		0.3429	False		,,,				2504	0.5051					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_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.*222T>C	21.37:g.46685175A>G			Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	RNA	SNP	-	NULL	ENST00000349485.5	37	NULL	CCDS13719.1	21																																																																																			POFUT2	-	-	ENSG00000186866		0.657	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	HGNC	protein_coding	OTTHUMT00000192573.2	16	0.00	0	A	NM_015227		46685175	46685175	-1	no_errors	ENST00000471540	ensembl	human	known	69_37n	rna	0	100.00	9	SNP	0.000	G
POLE	5426	genome.wustl.edu	37	12	133219516	133219516	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:133219516T>C	ENST00000320574.5	-	36	4661	c.4618A>G	c.(4618-4620)Aag>Gag	p.K1540E	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.K1513E	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1540					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGGCCCACCTTCTCCAGGAGG	0.627								DNA polymerases (catalytic subunits)																														dbGAP											0													64.0	62.0	63.0					12																	133219516		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4618A>G	12.37:g.133219516T>C	ENSP00000322570:p.Lys1540Glu		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.K1551E	ENST00000320574.5	37	c.4651	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	T	13.97	2.396594	0.42512	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22134	1.97;1.97;1.97	5.82	4.66	0.58398	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.268827	0.47455	D	0.000223	T	0.16599	0.0399	L	0.42245	1.32	0.37048	D	0.89745	B	0.10296	0.003	B	0.13407	0.009	T	0.09707	-1.0662	10	0.05721	T	0.95	.	13.3183	0.60419	0.0:0.0:0.1317:0.8683	.	1540	Q07864	DPOE1_HUMAN	E	1540;1551;1513	ENSP00000322570:K1540E;ENSP00000406383:K1551E;ENSP00000445753:K1513E	ENSP00000322570:K1540E	K	-	1	0	POLE	131729589	1.000000	0.71417	0.849000	0.33467	0.755000	0.42902	6.306000	0.72810	1.008000	0.39264	0.533000	0.62120	AAG	POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.627	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	31	0.00	0	T	NM_006231		133219516	133219516	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	16	64.44	29	SNP	1.000	C
POLR2J3	548644	genome.wustl.edu	37	7	102180473	102180473	+	Missense_Mutation	SNP	C	C	T	rs75359550	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:102180473C>T	ENST00000379357.5	-	4	550	c.551G>A	c.(550-552)cGc>cAc	p.R184H	RP11-514P8.8_ENST00000481893.1_RNA			Q9H1A7	RPB1C_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J3	0					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)										TTGCTGCAGGCGAGTGTCGCT	0.622													-|||	1577	0.314896	0.0946	0.2896	5008	,	,		10714	0.6002		0.2107	False		,,,				2504	0.4438					dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS47673.1	7q22.1	2013-01-21			ENSG00000168255	ENSG00000168255		"""RNA polymerase subunits"""	33853	protein-coding gene	gene with protein product						15586814	Standard	NM_001097615		Approved		uc010lid.1	Q9H1A7	OTTHUMG00000150384	ENST00000379357.5:c.551G>A	7.37:g.102180473C>T	ENSP00000368662:p.Arg184His		A6NKA1	Missense_Mutation	SNP	NULL	p.R184H	ENST00000379357.5	37	c.551		7	525	0.2403846153846154	50	0.1016260162601626	66	0.18232044198895028	304	0.5314685314685315	105	0.13852242744063326	c	15.86	2.958227	0.53400	.	.	ENSG00000168255	ENST00000379357;ENST00000513506	T;T	0.66460	-0.21;-0.21	4.4	-8.8	0.00817	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	2.9999999999752447E-6	B;B	0.27971	0.027;0.196	B;B	0.23852	0.009;0.049	T	0.20806	-1.0264	7	0.15499	T	0.54	-5.8438	4.8607	0.13583	0.1001:0.1481:0.1284:0.6234	.	184;184	B0FP48;E5RIL1	UPK3L_HUMAN;.	H	184;274	ENSP00000368662:R184H;ENSP00000421085:R274H	ENSP00000368662:R184H	R	-	2	0	POLR2J3	101967478	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.433000	0.00472	-2.064000	0.00888	-1.067000	0.02272	CGC	POLR2J3	-	NULL	ENSG00000168255		0.622	POLR2J3-201	KNOWN	basic|appris_principal	protein_coding	POLR2J3	HGNC	protein_coding		24	0.00	0	C	NM_001097615		102180473	102180473	-1	no_errors	ENST00000379357	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	0.000	T
POTEE	445582	genome.wustl.edu	37	2	132021023	132021023	+	Missense_Mutation	SNP	G	G	A	rs201534564	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:132021023G>A	ENST00000356920.5	+	15	2089	c.1995G>A	c.(1993-1995)atG>atA	p.M665I	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	665					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TAGACACAATGAAACATCAGA	0.353													.|||	255	0.0509185	0.1165	0.0346	5008	,	,		20177	0.003		0.0547	False		,,,				2504	0.0194					dbGAP											0													9.0	10.0	10.0					2																	132021023		1201	2994	4195	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1995G>A	2.37:g.132021023G>A	ENSP00000439189:p.Met665Ile		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.M665I	ENST00000356920.5	37	c.1995	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	2.705	-0.270083	0.05716	.	.	ENSG00000188219	ENST00000356920	T	0.09817	2.94	0.993	-1.99	0.07457	.	.	.	.	.	T	0.02380	0.0073	N	0.00707	-1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42137	-0.9469	9	0.25751	T	0.34	.	3.075	0.06243	0.324:0.2653:0.4107:0.0	.	665	Q6S8J3	POTEE_HUMAN	I	665	ENSP00000439189:M665I	ENSP00000439189:M665I	M	+	3	0	AC131180.1	131737493	0.000000	0.05858	0.017000	0.16124	0.007000	0.05969	-0.103000	0.10940	-0.813000	0.04357	-1.109000	0.02080	ATG	AC131180.1	-	NULL	ENSG00000188219		0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		35	0.00	0	G	NM_001083538		132021023	132021023	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	77	17.20	16	SNP	0.000	A
POTEH	23784	genome.wustl.edu	37	22	16275279	16275279	+	Splice_Site	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:16275279T>C	ENST00000343518.6	-	6	1218		c.e6-2		POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGGCAAATTCTATGTATAAAA	0.254																																						dbGAP											0													1.0	1.0	1.0					22																	16275279		42	167	209	-	-	-	SO:0001630	splice_region_variant	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.1167-2A>G	22.37:g.16275279T>C			A2CEK4|A6NCI1|A9Z1W0	Splice_Site	SNP	-	e6-2	ENST00000343518.6	37	c.1167-2	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	t	2.206	-0.381891	0.04966	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	.	.	.	1.38	0.291	0.15732	.	.	.	.	.	.	.	.	.	.	.	0.21064	N	0.999796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1124	0.06363	0.0:0.2656:0.0:0.7344	.	.	.	.	.	-1	.	.	.	-	.	.	POTEH	14655279	0.007000	0.16637	0.006000	0.13384	0.165000	0.22458	0.906000	0.28517	0.045000	0.15804	0.147000	0.16070	.	POTEH	-	-	ENSG00000198062		0.254	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	12	0.00	0	T	NM_001136213	Intron	16275279	16275279	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	splice_site	7	81.08	30	SNP	0.007	C
POTEI	653269	genome.wustl.edu	37	2	131266746	131266746	+	Silent	SNP	C	C	T	rs62163654	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:131266746C>T	ENST00000451531.2	-	1	493	c.63G>A	c.(61-63)agG>agA	p.R21R		NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I	21					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						CCATCTTGCTCCTGAGAACAA	0.577													c|||	338	0.067492	0.0083	0.0764	5008	,	,		15129	0.0099		0.1431	False		,,,				2504	0.1227					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.63G>A	2.37:g.131266746C>T				Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R21	ENST00000451531.2	37	c.63	CCDS59431.1	2																																																																																			POTEI	-	NULL	ENSG00000196834		0.577	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEI	HGNC	protein_coding	OTTHUMT00000333222.2	70	0.00	0	C	XM_928585		131266746	131266746	-1	no_errors	ENST00000451531	ensembl	human	novel	69_37n	silent	7	58.82	10	SNP	0.006	T
POTEJ	653781	genome.wustl.edu	37	2	131414337	131414337	+	Silent	SNP	C	C	T	rs372122037		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:131414337C>T	ENST00000409602.1	+	15	2056	c.2004C>T	c.(2002-2004)acC>acT	p.T668T		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	668	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						ATGATGATACCGCTGTGCTCG	0.483																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2004C>T	2.37:g.131414337C>T				Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.T668	ENST00000409602.1	37	c.2004	CCDS59432.1	2																																																																																			POTEJ	-	pfam_Actin-like,smart_Actin-like	ENSG00000222038		0.483	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	43	0.00	0	C	XM_929706		131414337	131414337	+1	no_errors	ENST00000409602	ensembl	human	novel	69_37n	silent	99	23.26	30	SNP	1.000	T
POTEM	641455	genome.wustl.edu	37	14	20012850	20012850	+	Intron	SNP	A	A	T	rs201036322		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:20012850A>T	ENST00000551509.1	-	4	862				RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M											endometrium(4)|kidney(1)|lung(4)	9						actgaggttgaggttggagga	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.811-1193T>A	14.37:g.20012850A>T				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P302	ENST00000551509.1	37	c.906	CCDS45076.1	14																																																																																			POTEM	-	NULL	ENSG00000187537		0.398	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	228	0.00	0	A	NM_001145442		20012850	20012850	-1	no_errors	ENST00000547722	ensembl	human	known	69_37n	silent	386	29.25	160	SNP	0.030	T
POU5F1B	5462	genome.wustl.edu	37	8	128428656	128428656	+	Missense_Mutation	SNP	A	A	C	rs13273814	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:128428656A>C	ENST00000465342.2	+	2	1702	c.545A>C	c.(544-546)aAg>aCg	p.K182T	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.K182T|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	182	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.		K -> T (in dbSNP:rs13273814). {ECO:0000269|PubMed:21341266, ECO:0000269|Ref.3}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TTCAGCCAAAAGACCATCTGC	0.527													c|||	1116	0.222843	0.5083	0.1268	5008	,	,		17607	0.0585		0.1958	False		,,,				2504	0.1022					dbGAP											0													64.0	81.0	76.0					8																	128428656		692	1591	2283	-	-	-	SO:0001583	missense	0			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.545A>C	8.37:g.128428656A>C	ENSP00000419298:p.Lys182Thr		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.K182T	ENST00000465342.2	37	c.545	CCDS55274.1	8	369	0.16895604395604397	183	0.3719512195121951	48	0.13259668508287292	28	0.04895104895104895	110	0.14511873350923482	C	0.816	-0.750342	0.03041	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.79454	-1.27;-1.27	1.14	-1.47	0.08772	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.53938	N	0.000055	T	0.00012	0.0000	N	0.00025	-2.685	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.04013	0.001	T	0.18967	-1.0320	9	0.02654	T	1	.	1.4592	0.02392	0.2047:0.438:0.202:0.1552	rs13273814	182	Q06416	P5F1B_HUMAN	T	182	ENSP00000419298:K182T;ENSP00000375557:K182T	ENSP00000375557:K182T	K	+	2	0	POU5F1B	128497838	0.999000	0.42202	0.249000	0.24280	0.378000	0.30076	2.689000	0.46993	-1.120000	0.02953	-1.396000	0.01147	AAG	POU5F1B	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,prints_POU,pfscan_POU_specific	ENSG00000212993		0.527	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	33	0.00	0	A	NM_001159542		128428656	128428656	+1	no_errors	ENST00000391675	ensembl	human	known	69_37n	missense	103	29.93	44	SNP	0.999	C
PPP5D1	100506012	genome.wustl.edu	37	19	47030234	47030234	+	Silent	SNP	T	T	C	rs62136886	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:47030234T>C	ENST00000414155.1	-	2	413	c.183A>G	c.(181-183)gcA>gcG	p.A61A				E7EU14	PP5D1_HUMAN	PPP5 tetratricopeptide repeat domain containing 1	61																	GCTCGTCGCCTGCGATGGCCC	0.582													C|||	504	0.100639	0.1089	0.0735	5008	,	,		17983	0.0268		0.1372	False		,,,				2504	0.1472					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					19q13.32	2013-01-11	2012-07-20		ENSG00000230510	ENSG00000230510		"""Tetratricopeptide (TTC) repeat domain containing"""	44209	protein-coding gene	gene with protein product							Standard	NM_001205281		Approved		uc021uwg.1	E7EU14		ENST00000414155.1:c.183A>G	19.37:g.47030234T>C			B3KSW5	Silent	SNP	pfam_PPP_dom	p.A61	ENST00000414155.1	37	c.183		19																																																																																			PPP5D1	-	pfam_PPP_dom	ENSG00000230510		0.582	PPP5D1-001	PUTATIVE	basic|appris_principal	protein_coding	PPP5D1	HGNC	protein_coding	OTTHUMT00000466560.1	29	0.00	0	T	NM_001205281		47030234	47030234	-1	no_errors	ENST00000414155	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.996	C
PRAMEF2	65122	genome.wustl.edu	37	1	12921333	12921333	+	Missense_Mutation	SNP	G	G	A	rs56145411	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:12921333G>A	ENST00000240189.2	+	4	1211	c.1124G>A	c.(1123-1125)tGc>tAc	p.C375Y		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	375			C -> R (in dbSNP:rs17039307).		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(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGAGCTGCTGCTCCCAG	0.562													.|||	1359	0.271366	0.3858	0.1844	5008	,	,		27344	0.2857		0.2157	False		,,,				2504	0.2209					dbGAP											0													111.0	118.0	116.0					1																	12921333		2201	4294	6495	-	-	-	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1124G>A	1.37:g.12921333G>A	ENSP00000240189:p.Cys375Tyr			Missense_Mutation	SNP	NULL	p.C375Y	ENST00000240189.2	37	c.1124	CCDS149.1	1	357	0.16346153846153846	115	0.23373983739837398	63	0.17403314917127072	80	0.13986013986013987	99	0.13060686015831136	g	3.142	-0.176022	0.06380	.	.	ENSG00000120952	ENST00000240189	T	0.09163	3.01	0.824	-0.682	0.11339	.	1.330770	0.04798	N	0.433017	T	0.00012	0.0000	L	0.34521	1.04	0.58432	P	1.999999999946489E-6	B	0.09022	0.002	B	0.29440	0.102	T	0.47114	-0.9142	9	0.72032	D	0.01	.	5.1225	0.14867	0.5904:0.0:0.4096:0.0	rs56145411	375	O60811	PRAM2_HUMAN	Y	375	ENSP00000240189:C375Y	ENSP00000240189:C375Y	C	+	2	0	PRAMEF2	12843920	0.000000	0.05858	0.596000	0.28811	0.002000	0.02628	-0.801000	0.04550	-2.179000	0.00767	-2.900000	0.00093	TGC	PRAMEF2	-	NULL	ENSG00000120952		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	98	0.00	0	G	NM_023014		12921333	12921333	+1	no_errors	ENST00000240189	ensembl	human	known	69_37n	missense	102	37.04	60	SNP	0.676	A
PRAMEF4	400735	genome.wustl.edu	37	1	12943038	12943038	+	Missense_Mutation	SNP	A	A	C	rs3121081	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:12943038A>C	ENST00000235349.5	-	2	248	c.178T>G	c.(178-180)Tcc>Gcc	p.S60A		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	60					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)		AAGGGCCAGGACTGCACCATC	0.597													N|||	1312	0.261981	0.4304	0.2118	5008	,	,		15162	0.1627		0.2336	False		,,,				2504	0.2014					dbGAP											0													49.0	57.0	55.0					1																	12943038		2188	4269	6457	-	-	-	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.178T>G	1.37:g.12943038A>C	ENSP00000235349:p.Ser60Ala		Q5LJB5	Missense_Mutation	SNP	NULL	p.S60A	ENST00000235349.5	37	c.178	CCDS30592.1	1	323	0.1478937728937729	91	0.18495934959349594	51	0.1408839779005525	63	0.11013986013986014	118	0.15567282321899736	N	0.017	-1.493857	0.01009	.	.	ENSG00000243073	ENST00000235349	T	0.12569	2.67	1.48	1.48	0.22813	.	0.898344	0.09686	N	0.769021	T	0.00012	0.0000	N	0.00047	-2.43	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	9	0.02654	T	1	.	5.0346	0.14428	0.3518:0.6482:0.0:0.0	rs3121081	60	O60810	PRAM4_HUMAN	A	60	ENSP00000235349:S60A	ENSP00000235349:S60A	S	-	1	0	PRAMEF4	12865625	0.752000	0.28338	0.624000	0.29186	0.029000	0.11900	0.312000	0.19397	0.205000	0.20568	-0.503000	0.04515	TCC	PRAMEF4	-	NULL	ENSG00000243073		0.597	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	57	0.00	0	A	NM_001009611		12943038	12943038	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	missense	28	49.09	27	SNP	0.726	C
PREP	5550	genome.wustl.edu	37	6	105726244	105726244	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:105726244G>A	ENST00000369110.3	-	15	2100	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	636					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCAGCAGTGAGGAgcagca	0.537																																						dbGAP											0													116.0	110.0	112.0					6																	105726244		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1908C>T	6.37:g.105726244G>A			Q8N6D4	Silent	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.L636	ENST00000369110.3	37	c.1908	CCDS5053.1	6																																																																																			PREP	-	pfam_Peptidase_S9,prints_Peptidase_S9A	ENSG00000085377		0.537	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	33	0.00	0	G			105726244	105726244	-1	no_errors	ENST00000369110	ensembl	human	known	69_37n	silent	31	52.31	34	SNP	0.995	A
PRRG3	79057	genome.wustl.edu	37	X	150868724	150868724	+	Intron	SNP	A	A	G	rs7052313	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:150868724A>G	ENST00000370353.3	+	3	558				PRRG3_ENST00000538575.1_Intron|PRRG3_ENST00000370354.1_Silent_p.K96K			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAAGGAAAGACACCCAGC	0.537													A|||	795	0.210596	0.2405	0.3487	3775	,	,		15409	0.0813		0.0577	False		,,,				2504	0.0971					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.168+96A>G	X.37:g.150868724A>G			A1A523|A1A575|Q8N2N6	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	p.K96	ENST00000370353.3	37	c.288	CCDS14699.1	X																																																																																			PRRG3	-	NULL	ENSG00000130032		0.537	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	35	0.00	0	A	NM_024082		150868724	150868724	+1	no_errors	ENST00000370354	ensembl	human	known	69_37n	silent	6	53.85	7	SNP	0.001	G
PRSS3	5646	genome.wustl.edu	37	9	33796691	33796693	+	In_Frame_Del	DEL	GAG	GAG	-	rs143332708|rs3831310	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:33796691_33796693delGAG	ENST00000361005.5	+	2	262_264	c.262_264delGAG	c.(262-264)gagdel	p.E89del	PRSS3_ENST00000429677.3_In_Frame_Del_p.E25del|PRSS3_ENST00000379405.3_In_Frame_Del_p.E32del|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_In_Frame_Del_p.E46del	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			Missing (in Ref. 1; CAA50484). {ECO:0000305}.	cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACACCTGTGAGGAGAATTCTC	0.537														696	0.138978	0.0484	0.183	5008	,	,		23005	0.0685		0.165	False		,,,				2504	0.2761					dbGAP											0									,,,	293,3971		1,291,1840					,,,	-4.2	0.0		dbSNP_107	166	1418,6836		21,1376,2730	no	coding,coding,coding,coding	PRSS3	NM_007343.3,NM_002771.3,NM_001197098.1,NM_001197097.2	,,,	22,1667,4570	A1A1,A1R,RR		17.1795,6.8715,13.6683	,,,	,,,		1711,10807				-	-	-	SO:0001651	inframe_deletion	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.262_264delGAG	9.37:g.33796694_33796696delGAG	ENSP00000354280:p.Glu89del		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	In_Frame_Del	DEL	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E89in_frame_del	ENST00000361005.5	37	c.262_264	CCDS47958.1	9																																																																																			PRSS3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000010438		0.537	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	167	0.00	0	GAG	NM_002771		33796691	33796693	+1	no_errors	ENST00000361005	ensembl	human	known	69_37n	in_frame_del	92	43.56	71	DEL	0.023:0.017:0.021	-
PSG4	5672	genome.wustl.edu	37	19	43699292	43699292	+	Silent	SNP	A	A	C	rs28758934	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:43699292A>C	ENST00000405312.3	-	4	1080	c.843T>G	c.(841-843)ccT>ccG	p.P281P	PSG4_ENST00000433626.2_Silent_p.P188P|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	281	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGGACTGACAGGGAGGCTCT	0.448													C|||	138	0.0275559	0.0121	0.0173	5008	,	,		21807	0.001		0.0626	False		,,,				2504	0.047					dbGAP											0													236.0	231.0	233.0					19																	43699292		2202	4290	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.843T>G	19.37:g.43699292A>C			E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P281	ENST00000405312.3	37	c.843	CCDS46093.1	19																																																																																			PSG4	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000243137		0.448	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	132	0.00	0	A	NM_213633		43699292	43699292	-1	no_errors	ENST00000405312	ensembl	human	known	69_37n	silent	157	18.65	36	SNP	0.000	C
PSKH1	5681	genome.wustl.edu	37	16	67943554	67943554	+	Missense_Mutation	SNP	A	A	G	rs35552721		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:67943554A>G	ENST00000291041.5	+	2	1072	c.902A>G	c.(901-903)aAc>aGc	p.N301S		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> S (in dbSNP:rs35552721). {ECO:0000269|PubMed:17344846}.			cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GAGGATGACAACCGTACCCGG	0.597																																						dbGAP											0													77.0	64.0	68.0					16																	67943554		2198	4300	6498	-	-	-	SO:0001583	missense	0			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.902A>G	16.37:g.67943554A>G	ENSP00000291041:p.Asn301Ser		Q9NY19	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.N301S	ENST00000291041.5	37	c.902	CCDS10851.1	16	.	.	.	.	.	.	.	.	.	.	A	9.746	1.166089	0.21621	.	.	ENSG00000159792	ENST00000291041	T	0.38560	1.13	5.88	3.65	0.41850	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	0.20861	0.0502	N	0.02708	-0.52	0.53688	D	0.999979	B	0.32653	0.379	B	0.37091	0.241	T	0.07271	-1.0781	10	0.27082	T	0.32	-29.4318	10.1636	0.42866	0.8637:0.0:0.1363:0.0	rs35552721	301	P11801	KPSH1_HUMAN	S	301	ENSP00000291041:N301S	ENSP00000291041:N301S	N	+	2	0	PSKH1	66501055	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	7.452000	0.80683	0.480000	0.27534	-0.256000	0.11100	AAC	PSKH1	-	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	ENSG00000159792		0.597	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH1	HGNC	protein_coding	OTTHUMT00000268882.3	25	0.00	0	A	NM_006742		67943554	67943554	+1	no_errors	ENST00000291041	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	G
PSMD3	5709	genome.wustl.edu	37	17	38145029	38145029	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:38145029G>T	ENST00000264639.4	+	4	817	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	PSMD3_ENST00000541736.1_Missense_Mutation_p.A77S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	215					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTATTATCACGCCCGGGTCTA	0.547																																					Ovarian(186;531 2051 6385 19668 48409)	dbGAP											0													112.0	114.0	113.0					17																	38145029		2203	4300	6503	-	-	-	SO:0001583	missense	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.643G>T	17.37:g.38145029G>T	ENSP00000264639:p.Ala215Ser		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.A215S	ENST00000264639.4	37	c.643	CCDS11356.1	17	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280154	0.10458	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	D;D	0.82803	-1.65;-1.65	5.25	5.25	0.73442	Tetratricopeptide-like helical (1);	0.282471	0.40554	N	0.001070	T	0.49966	0.1588	N	0.00313	-1.665	0.46678	D	0.999155	B	0.10296	0.003	B	0.10450	0.005	T	0.61048	-0.7141	10	0.02654	T	1	-19.2547	13.1783	0.59639	0.0:0.0:0.7446:0.2554	.	215	O43242	PSMD3_HUMAN	S	215;202;77	ENSP00000264639:A215S;ENSP00000442508:A77S	ENSP00000264639:A215S	A	+	1	0	PSMD3	35398555	1.000000	0.71417	0.993000	0.49108	0.874000	0.50279	4.671000	0.61590	2.721000	0.93114	0.655000	0.94253	GCC	PSMD3	-	NULL	ENSG00000108344		0.547	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1	53	0.00	0	G	NM_002809		38145029	38145029	+1	no_errors	ENST00000264639	ensembl	human	known	69_37n	missense	88	17.59	19	SNP	0.978	T
PTPN12	5782	genome.wustl.edu	37	7	77256043	77256043	+	Silent	SNP	T	T	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:77256043T>G	ENST00000248594.6	+	13	1319	c.1047T>G	c.(1045-1047)gcT>gcG	p.A349A	PTPN12_ENST00000435495.2_Silent_p.A219A|PTPN12_ENST00000415482.2_Silent_p.A230A	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	349	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAGGGGATGCTAAAGAAGAAA	0.433																																						dbGAP											0													77.0	73.0	74.0					7																	77256043		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1047T>G	7.37:g.77256043T>G			A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A349	ENST00000248594.6	37	c.1047	CCDS5592.1	7																																																																																			PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12	ENSG00000127947		0.433	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	85	0.00	0	T			77256043	77256043	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	silent	49	54.21	58	SNP	0.985	G
PXDC1	221749	genome.wustl.edu	37	6	3723764	3723764	+	3'UTR	SNP	G	G	T	rs1045778	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:3723764G>T	ENST00000380283.4	-	0	1279				PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1								phosphatidylinositol binding (GO:0035091)										CAGAGCTGGGGCAGCAGCTGT	0.642													G|||	1618	0.323083	0.143	0.281	5008	,	,		18455	0.2778		0.5527	False		,,,				2504	0.407					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.*89C>A	6.37:g.3723764G>T			A8K0N3|Q6PGP0|Q86XB7	RNA	SNP	-	NULL	ENST00000380283.4	37	NULL	CCDS4486.1	6																																																																																			PXDC1	-	-	ENSG00000168994		0.642	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDC1	HGNC	protein_coding	OTTHUMT00000039688.1	19	0.00	0	G	NM_183373		3723764	3723764	-1	no_errors	ENST00000477592	ensembl	human	known	69_37n	rna	0	92.50	37	SNP	0.000	T
PYY	5697	genome.wustl.edu	37	17	42030476	42030476	+	Splice_Site	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:42030476C>T	ENST00000360085.2	-	6	810		c.e6+1		PYY_ENST00000592796.1_Silent_p.R90R	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGCGCTTTTACCGCGACCTGA	0.632																																						dbGAP											0													51.0	57.0	55.0					17																	42030476		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"""Endogenous ligands"""	9748	protein-coding gene	gene with protein product	"""prepro-PYY"""	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.269+1G>A	17.37:g.42030476C>T			Q5U5Q6|Q6FGH8	Splice_Site	SNP	-	e2+1	ENST00000360085.2	37	c.269+1	CCDS32662.1	17	.	.	.	.	.	.	.	.	.	.	c	13.10	2.137485	0.37728	.	.	ENSG00000131096	ENST00000360085	.	.	.	3.84	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.32504	N	0.538417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0377	0.19716	0.0:0.7591:0.0:0.2409	.	.	.	.	.	-1	.	.	.	-	.	.	PYY	39386002	0.891000	0.30450	0.260000	0.24451	0.167000	0.22549	0.542000	0.23222	0.300000	0.22699	-0.265000	0.10407	.	PYY	-	-	ENSG00000131096		0.632	PYY-001	KNOWN	basic|CCDS	protein_coding	PYY	HGNC	protein_coding	OTTHUMT00000457658.1	24	0.00	0	C	NM_004160	Intron	42030476	42030476	-1	no_errors	ENST00000360085	ensembl	human	known	69_37n	splice_site	9	70.97	22	SNP	0.312	T
QSER1	79832	genome.wustl.edu	37	11	32956011	32956011	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:32956011G>A	ENST00000399302.2	+	4	3155	c.2820G>A	c.(2818-2820)atG>atA	p.M940I	QSER1_ENST00000527788.1_Missense_Mutation_p.M701I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	940										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)					AGTCAAAAATGACTCTTGATC	0.403																																						dbGAP											0													77.0	70.0	72.0					11																	32956011		1861	4106	5967	-	-	-	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.2820G>A	11.37:g.32956011G>A	ENSP00000382241:p.Met940Ile		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.M940I	ENST00000399302.2	37	c.2820	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608197	0.14002	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.21932	2.31;1.98	5.69	-0.66	0.11421	.	0.460941	0.23777	N	0.044680	T	0.15955	0.0384	L	0.54323	1.7	0.09310	N	1	B;B;B	0.13594	0.008;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.16897	-1.0387	10	0.35671	T	0.21	.	6.1291	0.20195	0.49:0.0:0.3873:0.1227	.	701;701;940	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	I	940;701;701	ENSP00000382241:M940I;ENSP00000432766:M701I	ENSP00000078652:M701I	M	+	3	0	QSER1	32912587	0.391000	0.25221	0.078000	0.20375	0.990000	0.78478	0.920000	0.28705	-0.389000	0.07786	0.561000	0.74099	ATG	QSER1	-	NULL	ENSG00000060749		0.403	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	47	0.00	0	G	NM_024774		32956011	32956011	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	40	42.86	30	SNP	0.014	A
QTRT1	81890	genome.wustl.edu	37	19	10822936	10822936	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:10822936G>A	ENST00000250237.5	+	6	756	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	249					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AGCACCTCTCGGCTGCCGAAG	0.632																																						dbGAP											0													45.0	48.0	47.0					19																	10822936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.746G>A	19.37:g.10822936G>A	ENSP00000250237:p.Arg249Gln		B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans	p.R249Q	ENST00000250237.5	37	c.746	CCDS12248.1	19	.	.	.	.	.	.	.	.	.	.	G	6.105	0.387655	0.11581	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.01	-1.33	0.09172	.	0.240771	0.33610	U	0.004724	T	0.14056	0.0340	N	0.05467	-0.045	0.23473	N	0.997601	B	0.13594	0.008	B	0.12156	0.007	T	0.09335	-1.0679	9	0.45353	T	0.12	.	3.8168	0.08818	0.4729:0.0:0.3084:0.2187	.	249	Q9BXR0	TGT_HUMAN	Q	249	.	ENSP00000250237:R249Q	R	+	2	0	QTRT1	10683936	0.061000	0.20836	0.223000	0.23860	0.437000	0.31866	0.577000	0.23758	-0.059000	0.13154	-0.379000	0.06801	CGG	QTRT1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans	ENSG00000213339		0.632	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QTRT1	HGNC	protein_coding	OTTHUMT00000452086.1	34	0.00	0	G	NM_031209		10822936	10822936	+1	no_errors	ENST00000250237	ensembl	human	known	69_37n	missense	8	68.00	17	SNP	0.992	A
RAB6C	84084	genome.wustl.edu	37	2	130738163	130738163	+	Missense_Mutation	SNP	G	G	A	rs144773989	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:130738163G>A	ENST00000410061.2	+	1	929	c.475G>A	c.(475-477)Gct>Act	p.A159T	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	159	Required for centrosome localization.		A -> T. {ECO:0000269|PubMed:11054569, ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:12007787, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TAGGGCAAAAGCTGGATACAA	0.458													.|||	2890	0.577077	0.3366	0.6859	5008	,	,		23155	0.6101		0.6928	False		,,,				2504	0.6718					dbGAP											0													108.0	95.0	99.0					2																	130738163		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.475G>A	2.37:g.130738163G>A	ENSP00000387307:p.Ala159Thr		Q53RU3|Q6FIF7|Q9P128	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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A159T	ENST00000410061.2	37	c.475	CCDS46408.1	2	.	.	.	.	.	.	.	.	.	.	.	9.294	1.051337	0.19827	.	.	ENSG00000222014	ENST00000410061	T	0.76578	-1.03	0.652	-0.869	0.10649	Small GTP-binding protein domain (1);	.	.	.	.	T	0.33789	0.0875	N	0.00149	-1.99	0.24763	P	0.99291617	B	0.10296	0.003	B	0.11329	0.006	T	0.42430	-0.9452	8	0.11485	T	0.65	-6.1379	5.2636	0.15588	0.2646:0.0:0.7354:0.0	.	159	Q9H0N0	RAB6C_HUMAN	T	159	ENSP00000387307:A159T	ENSP00000387307:A159T	A	+	1	0	RAB6C	130454633	0.960000	0.32886	0.004000	0.12327	0.305000	0.27757	0.594000	0.24014	-0.306000	0.08818	0.121000	0.15741	GCT	RAB6C	-	pfam_Small_GTPase,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	ENSG00000222014		0.458	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	291	0.00	0	G	NM_032144		130738163	130738163	+1	no_errors	ENST00000410061	ensembl	human	known	69_37n	missense	155	42.59	115	SNP	0.996	A
RAD21L1	642636	genome.wustl.edu	37	20	1210647	1210647	+	Missense_Mutation	SNP	T	T	C	rs450739	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:1210647T>C	ENST00000409241.1	+	3	361	c.268T>C	c.(268-270)Tgc>Cgc	p.C90R	RAD21L1_ENST00000381882.2_Missense_Mutation_p.C90R|RAD21L1_ENST00000402452.1_Missense_Mutation_p.C90R	NM_001136566.2	NP_001130038.2	Q9H4I0	RD21L_HUMAN	RAD21-like 1 (S. pombe)	90			C -> R (in dbSNP:rs450739). {ECO:0000269|PubMed:15489334}.		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						GATGACATTTTGCCCAGGTAT	0.373													C|||	2474	0.49401	0.7542	0.428	5008	,	,		17544	0.2202		0.5378	False		,,,				2504	0.4264					dbGAP											0													158.0	132.0	140.0					20																	1210647		692	1591	2283	-	-	-	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.268T>C	20.37:g.1210647T>C	ENSP00000386414:p.Cys90Arg		B2RXL0|B7ZBB1|B7ZW76|Q5W0X5	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.C90R	ENST00000409241.1	37	c.268	CCDS46568.1	20	1057	0.483974358974359	373	0.758130081300813	175	0.48342541436464087	113	0.19755244755244755	396	0.5224274406332454	C	3.037	-0.198432	0.06219	.	.	ENSG00000244588	ENST00000402452;ENST00000409241;ENST00000381882	T;T;T	0.25912	1.77;1.77;1.77	5.16	5.16	0.70880	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.64402	N	0.000007	T	0.00012	0.0000	N	0.00009	-3.09	0.22330	P	0.999196335	B	0.02656	0.0	B	0.01281	0.0	T	0.43130	-0.9410	9	0.02654	T	1	.	14.0293	0.64606	0.0:0.9264:0.0:0.0736	rs450739;rs52795523;rs59077672;rs450739	90	Q9H4I0	RD21L_HUMAN	R	90	ENSP00000385925:C90R;ENSP00000386414:C90R;ENSP00000371306:C90R	ENSP00000371306:C90R	C	+	1	0	RAD21L1	1158647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.090000	0.50191	1.555000	0.49500	-0.186000	0.12905	TGC	RAD21L1	-	pfam_Rad21_Rec8_N	ENSG00000244588		0.373	RAD21L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21L1	HGNC	protein_coding	OTTHUMT00000334022.1	252	0.00	0	T			1210647	1210647	+1	no_errors	ENST00000409241	ensembl	human	known	69_37n	missense	0	100.00	253	SNP	1.000	C
RBM20	282996	genome.wustl.edu	37	10	112557355	112557355	+	Silent	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:112557355G>T	ENST00000369519.3	+	6	1675	c.1617G>T	c.(1615-1617)ggG>ggT	p.G539G		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	539	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						TTAACCTGGGGCTGCCCTTTG	0.498																																						dbGAP											0													147.0	131.0	136.0					10																	112557355		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.1617G>T	10.37:g.112557355G>T			A6NIP5|B5A868|Q5JVI1	Silent	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.G539	ENST00000369519.3	37	c.1617	CCDS44477.1	10																																																																																			RBM20	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000203867		0.498	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	27	0.00	0	G	NM_001134363		112557355	112557355	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	silent	47	52.53	52	SNP	0.993	T
RBM20	282996	genome.wustl.edu	37	10	112581510	112581510	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:112581510C>G	ENST00000369519.3	+	11	3191	c.3133C>G	c.(3133-3135)Caa>Gaa	p.Q1045E		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1045					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						TACAGTCCAGCAAATGTCTTC	0.567																																						dbGAP											0													50.0	55.0	53.0					10																	112581510		692	1591	2283	-	-	-	SO:0001583	missense	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3133C>G	10.37:g.112581510C>G	ENSP00000358532:p.Gln1045Glu		A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Q1045E	ENST00000369519.3	37	c.3133	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955429	0.34471	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	D	0.89552	-2.53	5.93	3.9	0.45041	.	0.214859	0.33732	N	0.004602	T	0.79701	0.4491	L	0.38175	1.15	0.30891	N	0.73033	B	0.02656	0.0	B	0.01281	0.0	T	0.68300	-0.5445	10	0.15952	T	0.53	-10.526	5.8076	0.18448	0.1715:0.6327:0.118:0.0778	.	1045	Q5T481	RBM20_HUMAN	E	1045	ENSP00000358532:Q1045E	ENSP00000358532:Q1045E	Q	+	1	0	RBM20	112571500	0.988000	0.35896	0.998000	0.56505	0.885000	0.51271	1.077000	0.30741	1.479000	0.48272	0.561000	0.74099	CAA	RBM20	-	NULL	ENSG00000203867		0.567	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	39	0.00	0	C	NM_001134363		112581510	112581510	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	missense	30	50.00	30	SNP	0.998	G
REG1P	5969	genome.wustl.edu	37	2	79363251	79363251	+	RNA	SNP	C	C	T	rs6721752	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:79363251C>T	ENST00000444841.1	-	0	1087									regenerating islet-derived 1 pseudogene																		CAGAAAGAGACAGAAACACCT	0.458													T|||	1529	0.305312	0.4766	0.4121	5008	,	,		19815	0.3175		0.1799	False		,,,				2504	0.1145					dbGAP											0																																										-	-	-			0					2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79363251C>T				RNA	SNP	-	NULL	ENST00000444841.1	37	NULL		2																																																																																			REG1P	-	-	ENSG00000204787		0.458	REG1P-002	KNOWN	basic	processed_transcript	REG1P	HGNC	pseudogene	OTTHUMT00000328851.1	21	0.00	0	C	NR_002714		79363251	79363251	-1	no_errors	ENST00000377435	ensembl	human	known	69_37n	rna	4	69.23	9	SNP	0.000	T
REXO1	57455	genome.wustl.edu	37	19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-	rs149465929|rs75443592|rs199696044	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del	CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCTCACTCTTCTCTTCCTTGGGG	0.606														1503	0.30012	0.2844	0.4135	5008	,	,		15520	0.3829		0.2087	False		,,,				2504	0.2495					dbGAP											0										1300,2964		203,894,1035						3.2	0.0		dbSNP_106	100	1727,6527		175,1377,2575	no	coding	REXO1	NM_020695.3		378,2271,3610	A1A1,A1R,RR		20.9232,30.4878,24.1812				3027,9491				-	-	-	SO:0001651	inframe_deletion	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1924_1926delGAG	19.37:g.1825928_1825930delCTC	ENSP00000170168:p.Glu642del		Q9ULT2	In_Frame_Del	DEL	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.E642in_frame_del	ENST00000170168.4	37	c.1926_1924	CCDS32866.1	19																																																																																			REXO1	-	NULL	ENSG00000079313		0.606	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	83	0.00	0	CTC	NM_020695		1825928	1825930	-1	no_errors	ENST00000170168	ensembl	human	known	69_37n	in_frame_del	0	93.10	54	DEL	0.219:0.273:0.268	-
RFNG	5986	genome.wustl.edu	37	17	80007805	80007805	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:80007805G>C	ENST00000310496.4	-	5	658	c.651C>G	c.(649-651)agC>agG	p.S217R	GPS1_ENST00000320548.4_5'Flank|RFNG_ENST00000429557.3_Missense_Mutation_p.S91R|GPS1_ENST00000355130.2_5'Flank|GPS1_ENST00000306823.6_5'Flank|GPS1_ENST00000578552.1_5'Flank|GPS1_ENST00000392358.2_5'Flank|RFNG_ENST00000584838.1_5'UTR	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	217					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGGCCCATGGGCTCATCTTGA	0.652																																						dbGAP											0													32.0	33.0	33.0					17																	80007805		2197	4299	6496	-	-	-	SO:0001583	missense	0			BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"""Beta 3-glycosyltransferases"""	9974	protein-coding gene	gene with protein product		602578	"""radical fringe (Drosophila) homolog"", ""radical fringe homolog (Drosophila)"""			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.651C>G	17.37:g.80007805G>C	ENSP00000307971:p.Ser217Arg		O00588	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.S217R	ENST00000310496.4	37	c.651	CCDS32773.1	17	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730793	0.30684	.	.	ENSG00000169733	ENST00000310496;ENST00000429557	T	0.64085	-0.08	3.69	-1.05	0.10036	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.79475	2.455	0.42544	D	0.99308	D	0.89917	1.0	D	0.91635	0.999	T	0.68804	-0.5312	10	0.14656	T	0.56	-28.0774	7.7919	0.29125	0.5746:0.0:0.4254:0.0	.	217	Q9Y644	RFNG_HUMAN	R	217;176	ENSP00000307971:S217R	ENSP00000307971:S217R	S	-	3	2	RFNG	77601094	1.000000	0.71417	0.938000	0.37757	0.239000	0.25481	0.507000	0.22675	-0.032000	0.13758	-1.036000	0.02392	AGC	RFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000169733		0.652	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFNG	HGNC	protein_coding	OTTHUMT00000442263.1	53	0.00	0	G	NM_002917		80007805	80007805	-1	no_errors	ENST00000310496	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	0.999	C
RFPL1	5988	genome.wustl.edu	37	22	29833469	29833469	+	5'Flank	SNP	A	A	G	rs71329487	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:29833469A>G	ENST00000354373.2	+	0	0				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						TTATCTTCATATGAAAGAAAA	0.274													-|||	541	0.108027	0.1619	0.0793	5008	,	,		18533	0.0288		0.172	False		,,,				2504	0.0716					dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_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		22.37:g.29833469A>G	Exception_encountered		Q6IC06|Q9UJ97	RNA	SNP	-	NULL	ENST00000354373.2	37	NULL	CCDS13857.2	22																																																																																			RFPL1-AS1	-	-	ENSG00000225465		0.274	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1-AS1	HGNC	protein_coding	OTTHUMT00000318719.1	26	0.00	0	A	NM_021026		29833469	29833469	-1	no_errors	ENST00000461286	ensembl	human	known	69_37n	rna	4	60.00	6	SNP	0.888	G
RGPD3	653489	genome.wustl.edu	37	2	107049714	107049714	+	Missense_Mutation	SNP	C	C	G	rs62152468		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:107049714C>G	ENST00000409886.3	-	16	2320	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E745Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	745					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTAAGCATCTCTTTTACAGAC	0.343																																						dbGAP											0													15.0	28.0	24.0					2																	107049714		673	1545	2218	-	-	-	SO:0001583	missense	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.2233G>C	2.37:g.107049714C>G	ENSP00000386588:p.Glu745Gln		B8ZZM4	Missense_Mutation	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.E745Q	ENST00000409886.3	37	c.2233	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	4.999	0.185488	0.09495	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.24908	1.83;1.83	2.34	2.34	0.29019	.	.	.	.	.	T	0.21841	0.0526	M	0.62723	1.935	0.26104	N	0.980775	P	0.35700	0.516	B	0.20955	0.032	T	0.10405	-1.0631	9	0.42905	T	0.14	-11.6791	10.3857	0.44138	0.0:1.0:0.0:0.0	.	745	A6NKT7	RGPD3_HUMAN	Q	745;503;745	ENSP00000386588:E745Q;ENSP00000303659:E745Q	ENSP00000303659:E745Q	E	-	1	0	RGPD3	106416146	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.692000	0.68256	1.308000	0.44962	0.173000	0.16961	GAG	RGPD3	-	NULL	ENSG00000153165		0.343	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	179	0.00	0	C	XM_929931		107049714	107049714	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	missense	320	50.54	327	SNP	1.000	G
RGPD3	653489	genome.wustl.edu	37	2	107068731	107068731	+	Missense_Mutation	SNP	C	C	T	rs200225138	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:107068731C>T	ENST00000409886.3	-	6	799	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	RGPD3_ENST00000304514.7_Missense_Mutation_p.A238T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	238					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTAGCATAGGCCAGCAGTAAG	0.403																																						dbGAP											0																																										-	-	-	SO:0001583	missense	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.712G>A	2.37:g.107068731C>T	ENSP00000386588:p.Ala238Thr		B8ZZM4	Missense_Mutation	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.A238T	ENST00000409886.3	37	c.712	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.07	1.530467	0.27387	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.30448	1.53;1.53	2.69	2.69	0.31865	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.47210	0.1433	M	0.64997	1.995	0.28094	N	0.931705	D	0.57571	0.98	P	0.61658	0.892	T	0.31696	-0.9934	9	0.59425	D	0.04	-8.6369	11.1609	0.48516	0.0:1.0:0.0:0.0	.	238	A6NKT7	RGPD3_HUMAN	T	238	ENSP00000386588:A238T;ENSP00000303659:A238T	ENSP00000303659:A238T	A	-	1	0	RGPD3	106435163	1.000000	0.71417	0.987000	0.45799	0.583000	0.36354	5.266000	0.65525	1.501000	0.48654	0.186000	0.17326	GCC	RGPD3	-	NULL	ENSG00000153165		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	21	0.00	0	C	XM_929931		107068731	107068731	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	0.999	T
RGPD4	285190	genome.wustl.edu	37	2	108488742	108488742	+	Missense_Mutation	SNP	G	G	T	rs147825872	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:108488742G>T	ENST00000408999.3	+	20	4359	c.4282G>T	c.(4282-4284)Gtg>Ttg	p.V1428L	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1428L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1428	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						AAGAGTATGGGTGTGGACTGC	0.368													N|||	1189	0.23742	0.1256	0.304	5008	,	,		20884	0.0377		0.4165	False		,,,				2504	0.363					dbGAP											0													2.0	2.0	2.0					2																	108488742		183	638	821	-	-	-	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.4282G>T	2.37:g.108488742G>T	ENSP00000386810:p.Val1428Leu		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.V1428L	ENST00000408999.3	37	c.4282	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	7.281	0.609062	0.14066	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.46063	0.88;0.88	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.51991	0.1707	M	0.66297	2.02	0.37827	P	0.07143	P	0.48764	0.915	P	0.53224	0.721	T	0.66850	-0.5819	8	0.54805	T	0.06	-10.4135	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1428	Q7Z3J3	RGPD4_HUMAN	L	1428	ENSP00000347081:V1428L;ENSP00000386810:V1428L	ENSP00000347081:V1428L	V	+	1	0	RGPD4	107855174	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.038000	0.64177	1.303000	0.44873	0.162000	0.16502	GTG	RGPD4	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000196862		0.368	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	59	0.00	0	G	XM_496581		108488742	108488742	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	0	100.00	69	SNP	1.000	T
RGS22	26166	genome.wustl.edu	37	8	101020624	101020624	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:101020624C>T	ENST00000360863.6	-	15	2534	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S	RGS22_ENST00000523437.1_Silent_p.S768S|RGS22_ENST00000523287.1_Silent_p.S599S|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	780					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)			CAATTTGGTCCGATTTTACCA	0.403																																						dbGAP											0													151.0	142.0	145.0					8																	101020624		1868	4103	5971	-	-	-	SO:0001819	synonymous_variant	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.2340G>A	8.37:g.101020624C>T			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.S780	ENST00000360863.6	37	c.2340	CCDS43758.1	8																																																																																			RGS22	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000132554		0.403	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	175	0.00	0	C	NM_015668		101020624	101020624	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	silent	223	18.01	49	SNP	0.992	T
RHOBTB1	9886	genome.wustl.edu	37	10	62631801	62631801	+	Intron	SNP	A	A	G	rs113484424	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:62631801A>G	ENST00000337910.5	-	10	2259				RHOBTB1_ENST00000357917.4_Intron|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTCATCTCACATTAATATGTG	0.488													A|||	24	0.00479233	0.0015	0.0058	5008	,	,		17729	0.0		0.0169	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1921+141T>C	10.37:g.62631801A>G				RNA	SNP	-	NULL	ENST00000337910.5	37	NULL	CCDS7261.1	10																																																																																			RHOBTB1	-	-	ENSG00000072422		0.488	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	53	0.00	0	A			62631801	62631801	-1	no_errors	ENST00000490827	ensembl	human	known	69_37n	rna	14	56.25	18	SNP	0.001	G
RILPL1	353116	genome.wustl.edu	37	12	124008109	124008109	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:124008109C>T	ENST00000376874.4	-	2	628	c.393G>A	c.(391-393)aaG>aaA	p.K131K		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	131					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCATGAGCTGCTTGTTCTCCT	0.607																																						dbGAP											0													84.0	89.0	87.0					12																	124008109		2118	4234	6352	-	-	-	SO:0001819	synonymous_variant	0			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.393G>A	12.37:g.124008109C>T			Q66K36|Q8N1M0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,pfam_RILP	p.K131	ENST00000376874.4	37	c.393	CCDS45006.1	12																																																																																			RILPL1	-	pfam_JNK/Rab-associated_protein-1_N	ENSG00000188026		0.607	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL1	HGNC	protein_coding	OTTHUMT00000400595.1	45	0.00	0	C	NM_178314		124008109	124008109	-1	no_errors	ENST00000376874	ensembl	human	known	69_37n	silent	53	14.52	9	SNP	0.999	T
RLTPR	146206	genome.wustl.edu	37	16	67683980	67683980	+	Missense_Mutation	SNP	G	G	A	rs557350135		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:67683980G>A	ENST00000334583.6	+	22	2439	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R668H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	704					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)		AGGAACAACCGCGCAGACCCT	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18388	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													70.0	78.0	75.0					16																	67683980		2078	4197	6275	-	-	-	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.2111G>A	16.37:g.67683980G>A	ENSP00000334958:p.Arg704His		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R704H	ENST00000334583.6	37	c.2111	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	7.164	0.586235	0.13749	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.41758	0.99;0.99	5.3	0.466	0.16716	.	0.467249	0.20780	N	0.085804	T	0.18841	0.0452	N	0.12182	0.205	0.20307	N	0.999918	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.19943	-1.0290	10	0.15952	T	0.53	-21.4957	6.4625	0.21964	0.5427:0.0:0.4573:0.0	.	668;704	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	704;668	ENSP00000334958:R704H;ENSP00000441481:R668H	ENSP00000334958:R704H	R	+	2	0	RLTPR	66241481	0.002000	0.14202	0.123000	0.21794	0.914000	0.54420	-0.130000	0.10498	0.223000	0.20920	0.561000	0.74099	CGC	RLTPR	-	NULL	ENSG00000159753		0.597	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	158	0.00	0	G	NM_001013838		67683980	67683980	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.025	A
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037868	10037868	+	RNA	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrY:10037868G>A	ENST00000515896.1	+	0	105									RNA, 5.8S ribosomal pseudogene 6																		CACTTCGAACGCACTTGCGGC	0.562																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037868G>A				RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.562	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		25	0.00	0	G			10037868	10037868	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181740743	181740743	+	Intron	SNP	A	A	G	rs199929	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:181740743A>G	ENST00000367573.2	+	36	4973				CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000360108.3_Intron|CACNA1E_ENST00000357570.5_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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						atcttgtctgatcttggaagc	0.418													A|||	1265	0.252596	0.2995	0.2882	5008	,	,		22445	0.0744		0.2604	False		,,,				2504	0.3395					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.4973+223A>G	1.37:g.181740743A>G			B1AM12|B1AM13|B1AM14|Q14580|Q14581	RNA	SNP	-	NULL	ENST00000367573.2	37	NULL	CCDS55664.1	1																																																																																			RNA5SP70	-	-	ENSG00000252977		0.418	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RNA5SP70	HGNC	protein_coding	OTTHUMT00000090793.2	16	0.00	0	A	NM_000721		181740743	181740743	+1	no_errors	ENST00000517168	ensembl	human	known	69_37n	rna	6	53.85	7	SNP	0.001	G
RNF126P1	376412	genome.wustl.edu	37	17	55123297	55123297	+	RNA	SNP	G	G	A	rs7214370	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:55123297G>A	ENST00000567452.1	+	0	459					NR_002818.2				ring finger protein 126 pseudogene 1																		CGGCCGGCACGAAGGCCTCCC	0.706													g|||	1075	0.214657	0.3109	0.1844	5008	,	,		12680	0.1687		0.1909	False		,,,				2504	0.1779					dbGAP											0																																										-	-	-			0			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123297G>A				RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-	ENSG00000261192		0.706	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	29	0.00	0	G			55123297	55123297	+1	no_errors	ENST00000567452	ensembl	human	known	69_37n	rna	13	35.00	7	SNP	0.916	A
RBAK-RBAKDN	100533952	genome.wustl.edu	37	7	5036428	5036428	+	Intron	SNP	C	C	A	rs62444280	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:5036428C>A	ENST00000407184.1	+	2	222				RNF216P1_ENST00000471244.1_RNA					RBAK-RBAKDN readthrough																		CCCTCTTCCCCAGTATGTAGC	0.602													C|||	925	0.184704	0.0144	0.147	5008	,	,		20498	0.3879		0.1382	False		,,,				2504	0.2802					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	ENST00000407184.1:c.-45+11722C>A	7.37:g.5036428C>A				RNA	SNP	-	NULL	ENST00000407184.1	37	NULL		7																																																																																			RNF216P1	-	-	ENSG00000196204		0.602	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	RNF216P1	HGNC	protein_coding	OTTHUMT00000472007.1	29	0.00	0	C			5036428	5036428	+1	no_errors	ENST00000403969	ensembl	human	known	69_37n	rna	18	45.45	15	SNP	0.074	A
RNU6-41P	106478912	genome.wustl.edu	37	1	182951356	182951356	+	RNA	SNP	G	G	T	rs10911174	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:182951356G>T	ENST00000384741.1	-	0	97									RNA, U6 small nuclear 41, pseudogene																		gaaaaatatggaatgcttcac	0.413													G|||	611	0.122005	0.0408	0.2176	5008	,	,		21682	0.1052		0.1054	False		,,,				2504	0.1984					dbGAP											0																																										-	-	-			0					1q25.3	2013-05-01	2013-05-01	2013-05-01	ENSG00000207472	ENSG00000207472			34247	pseudogene	RNA, pseudogene			"""RNA, U6 small nuclear 41"""	RNU6-41			Standard			Approved						1.37:g.182951356G>T				RNA	SNP	-	NULL	ENST00000384741.1	37	NULL		1																																																																																			RNU6-3	-	-	ENSG00000207472		0.413	RNU6-41P-201	KNOWN	basic	snRNA	RNU6-3	HGNC	snRNA		91	0.00	0	G			182951356	182951356	-1	no_errors	ENST00000384741	ensembl	human	known	69_37n	rna	28	59.42	41	SNP	0.155	T
RPN1	6184	genome.wustl.edu	37	3	128356811	128356811	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:128356811A>T	ENST00000296255.3	-	3	512	c.464T>A	c.(463-465)gTg>gAg	p.V155E	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	155					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CCCCTCAAACACCACAAACTG	0.483			T	EVI1	AML																																	dbGAP		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													195.0	151.0	166.0					3																	128356811		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.464T>A	3.37:g.128356811A>T	ENSP00000296255:p.Val155Glu		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.V155E	ENST00000296255.3	37	c.464	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097626	0.56075	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.68	4.52	0.55395	.	0.118089	0.56097	D	0.000021	T	0.56645	0.1999	M	0.73598	2.24	0.80722	D	1	B	0.17038	0.02	B	0.21360	0.034	T	0.48647	-0.9017	9	0.09590	T	0.72	-12.4972	8.7929	0.34861	0.8547:0.0:0.1453:0.0	.	155	P04843	RPN1_HUMAN	E	155;129	.	ENSP00000296255:V155E	V	-	2	0	RPN1	129839501	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.094000	0.76944	0.985000	0.38656	0.482000	0.46254	GTG	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.483	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	152	0.00	0	A	NM_002950		128356811	128356811	-1	no_errors	ENST00000296255	ensembl	human	known	69_37n	missense	86	46.91	76	SNP	1.000	T
RPSAP58	388524	genome.wustl.edu	37	19	24010329	24010329	+	Silent	SNP	T	T	C	rs200043817		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:24010329T>C	ENST00000496398.1	+	4	789	c.366T>C	c.(364-366)ctT>ctC	p.L122L	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Silent_p.L122L					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CACGGCTTCTTGTGGTTACTG	0.557																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.366T>C	19.37:g.24010329T>C				Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	p.L122	ENST00000496398.1	37	c.366		19																																																																																			RPSAP58	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	ENSG00000205246		0.557	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	RPSAP58	HGNC	protein_coding	OTTHUMT00000350238.1	43	0.00	0	T	NR_003662		24010329	24010329	+1	no_errors	ENST00000354585	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	0.998	C
RQCD1	9125	genome.wustl.edu	37	2	219457092	219457092	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:219457092G>A	ENST00000273064.6	+	6	981	c.606G>A	c.(604-606)acG>acA	p.T202T	RQCD1_ENST00000509807.2_Silent_p.T234T|RQCD1_ENST00000295701.5_Silent_p.T202T|RQCD1_ENST00000542068.1_Silent_p.T202T	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	202					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)		TATGTCAGACGTATGAGCGTT	0.383																																						dbGAP											0													293.0	268.0	276.0					2																	219457092		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.606G>A	2.37:g.219457092G>A			B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Silent	SNP	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	p.T234	ENST00000273064.6	37	c.702	CCDS33379.1	2																																																																																			RQCD1	-	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	ENSG00000144580		0.383	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RQCD1	HGNC	protein_coding	OTTHUMT00000336920.1	232	0.00	0	G	NM_005444		219457092	219457092	+1	no_errors	ENST00000509807	ensembl	human	known	69_37n	silent	225	41.25	158	SNP	0.903	A
RRBP1	6238	genome.wustl.edu	37	20	17596586	17596586	+	Silent	SNP	C	C	G	rs11551704	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:17596586C>G	ENST00000377813.1	-	22	4239	c.3936G>C	c.(3934-3936)acG>acC	p.T1312T	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.T879T|RRBP1_ENST00000455029.2_Silent_p.T653T|RRBP1_ENST00000246043.4_Silent_p.T1312T|RRBP1_ENST00000377807.2_Silent_p.T879T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1312				T -> M (in Ref. 1; AAC25977). {ECO:0000305}.	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						CAAACTCGGCCGTGAGCTTCT	0.637													C|||	13	0.00259585	0.0098	0.0	5008	,	,		17870	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													73.0	57.0	63.0					20																	17596586		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.3936G>C	20.37:g.17596586C>G			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.T1312	ENST00000377813.1	37	c.3936		20																																																																																			RRBP1	-	NULL	ENSG00000125844		0.637	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	9	0.00	0	C	NM_001042576		17596586	17596586	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	silent	1	92.86	13	SNP	0.000	G
RRBP1	6238	genome.wustl.edu	37	20	17602410	17602410	+	Silent	SNP	G	G	A	rs148899277	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:17602410G>A	ENST00000377813.1	-	15	3552	c.3249C>T	c.(3247-3249)acC>acT	p.T1083T	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.T650T|RRBP1_ENST00000455029.2_Silent_p.T424T|RRBP1_ENST00000246043.4_Silent_p.T1083T|RRBP1_ENST00000377807.2_Silent_p.T650T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1083					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						GCAGCCACTCGGTGTAATTCT	0.607													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17029	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													39.0	44.0	42.0					20																	17602410		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.3249C>T	20.37:g.17602410G>A			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.T1083	ENST00000377813.1	37	c.3249		20																																																																																			RRBP1	-	NULL	ENSG00000125844		0.607	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	20	0.00	0	G	NM_001042576		17602410	17602410	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	silent	22	57.69	30	SNP	0.000	A
RRH	10692	genome.wustl.edu	37	4	110756591	110756591	+	Nonsense_Mutation	SNP	C	C	T	rs568068949	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:110756591C>T	ENST00000317735.4	+	3	401	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	123					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGCTGTGGACCGATACCTGAC	0.393													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15407	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													155.0	150.0	151.0					4																	110756591		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.367C>T	4.37:g.110756591C>T	ENSP00000314992:p.Arg123*		A1A4V2|Q7RTS4	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Peropsin,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R123*	ENST00000317735.4	37	c.367	CCDS3687.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.341306	0.95783	.	.	ENSG00000180245	ENST00000317735	.	.	.	5.88	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1711	0.81817	0.1343:0.8657:0.0:0.0	.	.	.	.	X	123	.	ENSP00000314992:R123X	R	+	1	2	RRH	110976040	0.947000	0.32204	0.992000	0.48379	0.597000	0.36814	1.539000	0.36104	1.419000	0.47118	0.655000	0.94253	CGA	RRH	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180245		0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1	148	0.00	0	C	NM_006583		110756591	110756591	+1	no_errors	ENST00000317735	ensembl	human	known	69_37n	nonsense	121	45.74	102	SNP	1.000	T
RRP15	51018	genome.wustl.edu	37	1	218504400	218504400	+	Frame_Shift_Del	DEL	C	C	-	rs541335404	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:218504400delC	ENST00000366932.3	+	5	846	c.816delC	c.(814-816)agcfs	p.S272fs		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	272						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CAGATGACAGCAGACCAGAAT	0.408													C|C|-|deletion	13	0.00259585	0.0	0.0014	5008	,	,		14545	0.0		0.007	False		,,,				2504	0.0051					dbGAP											0										3,4263		0,3,2130	76.0	70.0	72.0			1.5	0.0	1		73	29,8225		0,29,4098	no	frameshift	RRP15	NM_016052.3		0,32,6228	A1A1,A1R,RR		0.3513,0.0703,0.2556			218504400	32,12488	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.816delC	1.37:g.218504400delC	ENSP00000355899:p.Ser272fs			Frame_Shift_Del	DEL	pfam_DUF1665	p.S272fs	ENST00000366932.3	37	c.816	CCDS1520.2	1																																																																																			RRP15	-	NULL	ENSG00000067533		0.408	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	24	0.00	0	C	NM_016052		218504400	218504400	+1	no_errors	ENST00000366932	ensembl	human	known	69_37n	frame_shift_del	34	58.51	55	DEL	0.000	-
RRP7A	27341	genome.wustl.edu	37	22	42910760	42910760	+	Silent	SNP	A	A	G	rs28430278	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:42910760A>G	ENST00000323013.6	-	5	501	c.486T>C	c.(484-486)tcT>tcC	p.S162S	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	162							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCGGGCACAGAGTCTGCGT	0.647													A|||	129	0.0257588	0.0817	0.013	5008	,	,		21046	0.005		0.005	False		,,,				2504	0.002					dbGAP											0													40.0	43.0	42.0					22																	42910760		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.486T>C	22.37:g.42910760A>G			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	NULL	p.S162	ENST00000323013.6	37	c.486	CCDS14036.1	22																																																																																			RRP7A	-	NULL	ENSG00000189306		0.647	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	HGNC	protein_coding	OTTHUMT00000320451.1	39	0.00	0	A	NM_015703		42910760	42910760	-1	no_errors	ENST00000323013	ensembl	human	known	69_37n	silent	14	63.16	24	SNP	0.000	G
RYR2	6262	genome.wustl.edu	37	1	237604721	237604721	+	Silent	SNP	C	C	T	rs534621173		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:237604721C>T	ENST00000366574.2	+	13	1425	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L	RYR2_ENST00000360064.6_Silent_p.L368L|RYR2_ENST00000542537.1_Silent_p.L354L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	370	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)			AGACACAGGCCTATGGCTTAC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		16881	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													140.0	137.0	138.0					1																	237604721		1883	4120	6003	-	-	-	SO:0001819	synonymous_variant	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.1108C>T	1.37:g.237604721C>T			Q15411|Q546N8|Q5T3P2	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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L368	ENST00000366574.2	37	c.1102	CCDS55691.1	1																																																																																			RYR2	-	pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000198626		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	74	0.00	0	C	NM_001035		237604721	237604721	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	113	54.07	133	SNP	1.000	T
SAA1	6288	genome.wustl.edu	37	11	18290866	18290866	+	Silent	SNP	T	T	C	rs1136745	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:18290866T>C	ENST00000405158.2	+	3	400	c.216T>C	c.(214-216)gcT>gcC	p.A72A	RNA5SP334_ENST00000364825.1_RNA|SAA1_ENST00000532858.1_Silent_p.A72A|SAA1_ENST00000356524.4_Silent_p.A72A	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	72					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)	p.A72A(1)		endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GTGCCTGGGCTGCAGAAGTGA	0.562																																						dbGAP											1	Substitution - coding silent(1)	stomach(1)											20.0	21.0	20.0					11																	18290866		2190	4260	6450	-	-	-	SO:0001819	synonymous_variant	0			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.216T>C	11.37:g.18290866T>C			P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Silent	SNP	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.A72	ENST00000405158.2	37	c.216	CCDS7835.1	11																																																																																			SAA1	-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	ENSG00000173432		0.562	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA1	HGNC	protein_coding	OTTHUMT00000395864.1	114	0.00	0	T	NM_199161		18290866	18290866	+1	no_errors	ENST00000356524	ensembl	human	known	69_37n	silent	56	30.00	24	SNP	0.368	C
SAPCD1	401251	genome.wustl.edu	37	6	31731847	31731847	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:31731847C>A	ENST00000425424.1	+	3	321	c.262C>A	c.(262-264)Cta>Ata	p.L88I	MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000415669.2_Missense_Mutation_p.L88I|VWA7_ENST00000467576.1_5'Flank|MSH5_ENST00000534153.4_3'UTR			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	88																	CTAGAATTTTCTAACAGATTT	0.473																																						dbGAP											0													56.0	62.0	60.0					6																	31731847		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.262C>A	6.37:g.31731847C>A	ENSP00000413372:p.Leu88Ile		A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	NULL	p.L88I	ENST00000425424.1	37	c.262		6	.	.	.	.	.	.	.	.	.	.	C	33	5.258964	0.95368	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	D;D	0.81579	-1.51;-1.51	4.59	4.59	0.56863	.	.	.	.	.	T	0.66906	0.2837	.	.	.	0.20764	N	0.999859	P	0.48162	0.906	P	0.48704	0.587	T	0.57289	-0.7837	8	0.19590	T	0.45	-5.3257	13.2122	0.59832	0.0:1.0:0.0:0.0	.	88	Q5SSQ6-2	.	I	88	ENSP00000411948:L88I;ENSP00000413372:L88I	ENSP00000411948:L88I	L	+	1	2	C6orf26	31839826	0.803000	0.28956	0.281000	0.24762	0.978000	0.69477	1.907000	0.39897	2.838000	0.97847	0.655000	0.94253	CTA	SAPCD1	-	NULL	ENSG00000228727		0.473	SAPCD1-203	KNOWN	basic	protein_coding	SAPCD1	HGNC	protein_coding		66	0.00	0	C	NM_001039651		31731847	31731847	+1	no_errors	ENST00000415669	ensembl	human	known	69_37n	missense	67	48.06	62	SNP	0.523	A
SCMH1	22955	genome.wustl.edu	37	1	41541040	41541040	+	Missense_Mutation	SNP	C	C	T	rs527924712	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:41541040C>T	ENST00000326197.7	-	8	1098	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	SCMH1_ENST00000397174.2_Missense_Mutation_p.E247K|SCMH1_ENST00000402904.2_Missense_Mutation_p.E267K|SCMH1_ENST00000372597.1_Missense_Mutation_p.E220K|SCMH1_ENST00000372596.1_Missense_Mutation_p.E206K|SCMH1_ENST00000456518.2_Missense_Mutation_p.E109K|SCMH1_ENST00000361191.5_Missense_Mutation_p.E206K|SCMH1_ENST00000397171.2_Missense_Mutation_p.E206K|SCMH1_ENST00000337495.5_Missense_Mutation_p.E277K|SCMH1_ENST00000372595.1_Missense_Mutation_p.E206K|SCMH1_ENST00000361705.3_Missense_Mutation_p.E220K					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GGTTGATGTTCCAAGACAGTT	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		15475	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													126.0	117.0	120.0					1																	41541040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.799G>A	1.37:g.41541040C>T	ENSP00000318094:p.Glu267Lys			Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.E267K	ENST00000326197.7	37	c.799	CCDS30688.1	1	.	.	.	.	.	.	.	.	.	.	C	9.352	1.065652	0.20067	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.21543	2.32;2.0;2.31;2.32;2.32;2.32;2.32;2.32;2.32;2.31;2.31	5.78	5.78	0.91487	.	0.496682	0.22540	N	0.058734	T	0.13543	0.0328	N	0.19112	0.55	0.33098	D	0.538817	B;B;B;B	0.22146	0.001;0.002;0.065;0.006	B;B;B;B	0.23574	0.001;0.002;0.047;0.006	T	0.07558	-1.0766	10	0.07175	T	0.84	.	14.5339	0.67947	0.0:0.8536:0.1464:0.0	.	109;277;220;267	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	K	220;109;267;247;206;206;220;206;277;206;267	ENSP00000354996:E220K;ENSP00000403974:E109K;ENSP00000386079:E267K;ENSP00000380359:E247K;ENSP00000380356:E206K;ENSP00000354656:E206K;ENSP00000361678:E220K;ENSP00000361677:E206K;ENSP00000337352:E277K;ENSP00000361676:E206K;ENSP00000318094:E267K	ENSP00000318094:E267K	E	-	1	0	SCMH1	41313627	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.463000	0.53050	2.894000	0.99253	0.655000	0.94253	GAA	SCMH1	-	NULL	ENSG00000010803		0.527	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	65	0.00	0	C			41541040	41541040	-1	no_errors	ENST00000326197	ensembl	human	known	69_37n	missense	45	59.09	65	SNP	1.000	T
LINC00969	440993	genome.wustl.edu	37	3	195389523	195389523	+	lincRNA	SNP	A	A	G	rs62287049		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195389523A>G	ENST00000445430.1	+	0	257									long intergenic non-protein coding RNA 969																		TGCGAGCTGCATTTGGCCTTT	0.498																																						dbGAP											0																																										-	-	-			0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195389523A>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			SDHAP2	-	-	ENSG00000215837		0.498	LINC00969-038	KNOWN	basic	lincRNA	SDHAP2	HGNC	lincRNA	OTTHUMT00000341951.1	12	0.00	0	A			195389523	195389523	+1	no_errors	ENST00000429897	ensembl	human	known	69_37n	rna	0	100.00	3	SNP	0.993	G
SDHAP1	255812	genome.wustl.edu	37	3	195702704	195702704	+	RNA	SNP	T	T	C	rs199557292	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:195702704T>C	ENST00000427841.1	-	0	1258					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GGCAAGGGCATGGCCAGCTGC	0.562																																					Ovarian(67;1158 1227 12109 20189 43170)	dbGAP											0																																										-	-	-			0			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195702704T>C				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-	ENSG00000185485		0.562	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	19	0.00	0	T			195702704	195702704	-1	no_errors	ENST00000427841	ensembl	human	known	69_37n	rna	9	40.00	6	SNP	0.221	C
SEMA4G	57715	genome.wustl.edu	37	10	102739721	102739721	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:102739721G>A	ENST00000370250.4	+	9	1473	c.1100G>A	c.(1099-1101)gGt>gAt	p.G367D	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.G367D|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G367D	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	367	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)		CGCTATGAGGGTGGGGTGCCT	0.632																																						dbGAP											0													83.0	93.0	89.0					10																	102739721		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.1100G>A	10.37:g.102739721G>A	ENSP00000359270:p.Gly367Asp		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.G367D	ENST00000370250.4	37	c.1100		10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519256	0.85495	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.62723	1.935	0.80722	D	1	D;P;P	0.89917	1.0;0.924;0.849	D;P;B	0.91635	0.999;0.889;0.395	T	0.01048	-1.1469	10	0.39692	T	0.17	.	18.5665	0.91119	0.0:0.0:1.0:0.0	.	367;367;367	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	D	367	ENSP00000428896:G367D;ENSP00000359270:G367D;ENSP00000430175:G367D;ENSP00000210633:G367D	ENSP00000210633:G367D	G	+	2	0	SEMA4G	102729711	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.637000	0.83313	2.636000	0.89361	0.484000	0.47621	GGT	SEMA4G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000095539		0.632	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	39	0.00	0	G			102739721	102739721	+1	no_errors	ENST00000210633	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	1.000	A
SERP1	27230	genome.wustl.edu	37	3	150264707	150264707	+	5'UTR	SNP	A	A	C	rs16862731	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:150264707A>C	ENST00000479209.1	-	0	488				SERP1_ENST00000487153.1_5'Flank|EIF2A_ENST00000273435.5_Intron|EIF2A_ENST00000460851.1_Intron|SERP1_ENST00000491660.1_5'Flank|SERP1_ENST00000239944.2_5'Flank|EIF2A_ENST00000406576.3_Intron|EIF2A_ENST00000487799.1_Intron			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGCCGGGGAGTCTGATCTG	0.498													A|||	418	0.0834665	0.0953	0.0303	5008	,	,		18541	0.0863		0.0686	False		,,,				2504	0.1176					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769	ENST00000479209.1:c.-785T>G	3.37:g.150264707A>C			D3DNI6	RNA	SNP	-	NULL	ENST00000479209.1	37	NULL	CCDS3150.1	3																																																																																			SERP1	-	-	ENSG00000120742		0.498	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP1	HGNC	protein_coding	OTTHUMT00000357239.1	14	0.00	0	A	NM_014445		150264707	150264707	-1	no_errors	ENST00000491195	ensembl	human	putative	69_37n	rna	0	100.00	33	SNP	0.000	C
SETD1B	23067	genome.wustl.edu	37	12	122243077	122243077	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:122243077C>T	ENST00000604567.1	+	3	296	c.228C>T	c.(226-228)atC>atT	p.I76I	SETD1B_ENST00000267197.5_Silent_p.I76I|SETD1B_ENST00000542440.1_Silent_p.I76I|RHOF_ENST00000545544.1_5'Flank			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	76					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						TCGTCGGGATCTGGACCAAAA	0.622																																						dbGAP											0													58.0	65.0	63.0					12																	122243077		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.228C>T	12.37:g.122243077C>T			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.I76	ENST00000604567.1	37	c.228		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.622	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	81	0.00	0	C	XM_037523		122243077	122243077	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	silent	10	71.43	25	SNP	0.999	T
SGCA	6442	genome.wustl.edu	37	17	48246600	48246600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:48246600G>A	ENST00000262018.3	+	6	768	c.732G>A	c.(730-732)tgG>tgA	p.W244*	SGCA_ENST00000543315.1_Intron|SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Nonsense_Mutation_p.W142*	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	244					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCGTTGACTGGTGCAATGTGA	0.657											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													71.0	60.0	64.0					17																	48246600		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.732G>A	17.37:g.48246600G>A	ENSP00000262018:p.Trp244*	953	A6NEB8|A8K3K7|Q13710|Q13712	Nonsense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.W244*	ENST00000262018.3	37	c.732	CCDS32679.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.309805	0.97462	.	.	ENSG00000108823	ENST00000262018;ENST00000451235	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3709	17.3614	0.87351	0.0:0.0:1.0:0.0	.	.	.	.	X	244;142	.	ENSP00000262018:W244X	W	+	3	0	SGCA	45601599	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.859000	0.92264	2.389000	0.81357	0.462000	0.41574	TGG	SGCA	-	pfam_Sarcoglycan_2	ENSG00000108823		0.657	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1	41	0.00	0	G	NM_000023		48246600	48246600	+1	no_errors	ENST00000262018	ensembl	human	known	69_37n	nonsense	32	38.46	20	SNP	1.000	A
SIGLEC1	6614	genome.wustl.edu	37	20	3684515	3684515	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:3684515G>A	ENST00000344754.4	-	4	929	c.930C>T	c.(928-930)ggC>ggT	p.G310G	SIGLEC1_ENST00000202578.4_Silent_p.G310G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	310	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AAGAGCCCACGCCGTTCTCAG	0.592																																						dbGAP											0													65.0	52.0	56.0					20																	3684515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.930C>T	20.37:g.3684515G>A			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G310	ENST00000344754.4	37	c.930	CCDS13060.1	20																																																																																			SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000088827		0.592	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	38	0.00	0	G	NM_023068		3684515	3684515	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	silent	10	50.00	10	SNP	0.000	A
SIRT3	23410	genome.wustl.edu	37	11	223796	223796	+	Intron	SNP	A	A	G	rs72479380	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:223796A>G	ENST00000382743.4	-	5	1072				SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000524564.1_Intron|SIRT3_ENST00000528702.1_5'Flank	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3						aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGCCCATGAGATGACTCCTGT	0.632													A|||	663	0.132388	0.0106	0.1599	5008	,	,		14579	0.4137		0.0348	False		,,,				2504	0.0879					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.969+281T>C	11.37:g.223796A>G			B7Z5U6|Q9Y6E8	Silent	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.H121	ENST00000382743.4	37	c.363	CCDS7691.1	11																																																																																			SIRT3	-	pfscan_NAD-dep_deAcase_sirtuin	ENSG00000142082		0.632	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	18	0.00	0	A			223796	223796	-1	no_errors	ENST00000529937	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.093	G
SIRT3	23410	genome.wustl.edu	37	11	223823	223823	+	Intron	SNP	G	G	A	rs149395025	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:223823G>A	ENST00000382743.4	-	5	1072				SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000524564.1_Intron|SIRT3_ENST00000528702.1_5'Flank	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3						aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCCTTCCCCTGCCCTCCAGCC	0.642													G|||	637	0.127196	0.0098	0.1585	5008	,	,		11932	0.4107		0.0308	False		,,,				2504	0.0706					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.969+254C>T	11.37:g.223823G>A			B7Z5U6|Q9Y6E8	Silent	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.G112	ENST00000382743.4	37	c.336	CCDS7691.1	11																																																																																			SIRT3	-	pfscan_NAD-dep_deAcase_sirtuin	ENSG00000142082		0.642	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	17	0.00	0	G			223823	223823	-1	no_errors	ENST00000529937	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.000	A
SKIDA1	387640	genome.wustl.edu	37	10	21805462	21805463	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:21805462_21805463delGC	ENST00000449193.2	-	4	3541_3542	c.1289_1290delGC	c.(1288-1290)ggcfs	p.G430fs	SKIDA1_ENST00000444772.3_Frame_Shift_Del_p.G351fs|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	349						nucleus (GO:0005634)											AGGCCCCGCTGCccccctcctc	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1289_1290delGC	10.37:g.21805462_21805463delGC	ENSP00000410041:p.Gly430fs		B1ANA5|Q6ZMX4|Q8N3C3	Frame_Shift_Del	DEL	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G430fs	ENST00000449193.2	37	c.1290_1289	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.614	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	29	0.00	0	GC	NM_207371		21805462	21805463	-1	no_errors	ENST00000449193	ensembl	human	known	69_37n	frame_shift_del	3	57.14	4	DEL	1.000:1.000	-
SLC16A6	9120	genome.wustl.edu	37	17	66265367	66265367	+	Missense_Mutation	SNP	T	T	C	rs199555462	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:66265367T>C	ENST00000327268.4	-	7	1606	c.1442A>G	c.(1441-1443)cAt>cGt	p.H481R	SLC16A6_ENST00000580666.1_Missense_Mutation_p.H481R|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	481				H -> R (in Ref. 1; AAC52014). {ECO:0000305}.	monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGAGTGATGATGCTGGCACAG	0.522													C|||	1513	0.302117	0.4425	0.3242	5008	,	,		20252	0.2292		0.1879	False		,,,				2504	0.2894					dbGAP											0													11.0	13.0	12.0					17																	66265367		1836	3957	5793	-	-	-	SO:0001583	missense	0			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1442A>G	17.37:g.66265367T>C	ENSP00000319991:p.His481Arg		Q6P1X3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H481R	ENST00000327268.4	37	c.1442	CCDS11675.1	17	556	0.25457875457875456	187	0.3800813008130081	116	0.32044198895027626	133	0.23251748251748253	120	0.158311345646438	C	0.003	-2.439339	0.00180	.	.	ENSG00000108932	ENST00000327268	T	0.03635	3.86	4.86	-4.56	0.03431	Major facilitator superfamily domain, general substrate transporter (1);	1.399710	0.04594	N	0.397359	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48896	-0.8994	9	0.13108	T	0.6	.	9.0135	0.36155	0.0:0.1612:0.2141:0.6247	.	481	O15403	MOT7_HUMAN	R	481	ENSP00000319991:H481R	ENSP00000319991:H481R	H	-	2	0	SLC16A6	63776962	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.010000	0.01454	-1.356000	0.02183	-0.338000	0.08134	CAT	SLC16A6	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000108932		0.522	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	HGNC	protein_coding	OTTHUMT00000448323.1	19	0.00	0	T	NM_004694		66265367	66265367	-1	no_errors	ENST00000327268	ensembl	human	known	69_37n	missense	0	100.00	33	SNP	0.000	C
SLC22A17	51310	genome.wustl.edu	37	14	23821005	23821005	+	Missense_Mutation	SNP	C	C	G	rs546469474		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:23821005C>G	ENST00000206544.8	-	2	663	c.327G>C	c.(325-327)ttG>ttC	p.L109F	SLC22A17_ENST00000354772.3_Missense_Mutation_p.L109F|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000397267.1_Missense_Mutation_p.L109F|SLC22A17_ENST00000397260.3_Intron	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	109					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGCAAAGCCCAAGATGAAGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16576	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													75.0	63.0	67.0					14																	23821005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.327G>C	14.37:g.23821005C>G	ENSP00000206544:p.Leu109Phe		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L109F	ENST00000206544.8	37	c.327	CCDS9593.1	14	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381521	0.61845	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.76448	-1.02;-1.02;-1.02	3.67	2.74	0.32292	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.49305	U	0.000155	T	0.78155	0.4239	L	0.41906	1.305	0.44995	D	0.998016	D;D;D	0.76494	0.999;0.999;0.996	D;D;P	0.76575	0.988;0.952;0.893	T	0.73799	-0.3869	10	0.27785	T	0.31	-4.0826	5.8956	0.18937	0.1877:0.7053:0.0:0.107	.	109;109;109	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	F	109	ENSP00000346824:L109F;ENSP00000206544:L109F;ENSP00000380437:L109F	ENSP00000206544:L109F	L	-	3	2	SLC22A17	22890845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.065000	0.30592	1.867000	0.54127	0.462000	0.41574	TTG	SLC22A17	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000092096		0.637	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	HGNC	protein_coding	OTTHUMT00000157223.3	38	0.00	0	C	NM_020372		23821005	23821005	-1	no_errors	ENST00000206544	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	G
SLC23A3	151295	genome.wustl.edu	37	2	220030022	220030022	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:220030022G>A	ENST00000409878.3	-	8	1068	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000455516.2_Missense_Mutation_p.P354S|SLC23A3_ENST00000295738.7_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	346					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGTGGGGGAGGCAAATGC	0.672																																						dbGAP											0													23.0	33.0	30.0					2																	220030022		692	1591	2283	-	-	-	SO:0001583	missense	0			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1036C>T	2.37:g.220030022G>A	ENSP00000386473:p.Pro346Ser		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.P354S	ENST00000409878.3	37	c.1060	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578691	0.13686	.	.	ENSG00000213901	ENST00000409878;ENST00000455516	T;T	0.16324	2.35;2.35	5.23	-0.971	0.10303	.	.	.	.	.	T	0.08582	0.0213	N	0.20807	0.61	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.38929	-0.9638	8	.	.	.	.	4.9736	0.14129	0.1036:0.3368:0.4437:0.1159	.	346;354	Q6PIS1;B7Z512	S23A3_HUMAN;.	S	346;354	ENSP00000386473:P346S;ENSP00000406546:P354S	.	P	-	1	0	SLC23A3	219738266	0.000000	0.05858	0.350000	0.25708	0.669000	0.39330	0.085000	0.14912	0.086000	0.17137	0.650000	0.86243	CCC	SLC23A3	-	pfam_Xant/urac/vitC	ENSG00000213901		0.672	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	15	0.00	0	G	NM_144712		220030022	220030022	-1	no_errors	ENST00000455516	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	0.001	A
SLC25A23	79085	genome.wustl.edu	37	19	6454366	6454366	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:6454366C>T	ENST00000301454.4	-	6	869	c.763G>A	c.(763-765)Gag>Aag	p.E255K	SLC25A23_ENST00000334510.5_Missense_Mutation_p.E255K|SLC25A23_ENST00000414491.2_Missense_Mutation_p.E72K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	255					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ATAGCTGACTCGGGGGCAATC	0.542																																						dbGAP											0													122.0	121.0	122.0					19																	6454366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.763G>A	19.37:g.6454366C>T	ENSP00000301454:p.Glu255Lys		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E302K	ENST00000301454.4	37	c.904	CCDS32882.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514050	0.85389	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.79	5.79	0.91817	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.977;0.996	D	0.90204	0.4259	10	0.87932	D	0	-38.6187	18.8014	0.92018	0.0:1.0:0.0:0.0	.	72;255	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	K	302;255;72;255	ENSP00000264088:E302K;ENSP00000301454:E255K;ENSP00000408814:E72K;ENSP00000334537:E255K	ENSP00000264088:E302K	E	-	1	0	SLC25A23	6405366	1.000000	0.71417	0.963000	0.40424	0.217000	0.24651	7.459000	0.80802	2.748000	0.94277	0.655000	0.94253	GAG	SLC25A23	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000125648		0.542	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A23	HGNC	protein_coding	OTTHUMT00000453325.1	66	0.00	0	C	NM_024103		6454366	6454366	-1	no_errors	ENST00000264088	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	T
SLC26A9	115019	genome.wustl.edu	37	1	205896725	205896725	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:205896725G>A	ENST00000367135.3	-	10	1223	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SLC26A9_ENST00000367134.2_Silent_p.I370I|SLC26A9_ENST00000340781.4_Silent_p.I370I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	370					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCCGAGAGCGATCATCTCCT	0.552																																						dbGAP											0													51.0	52.0	52.0					1																	205896725		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1110C>T	1.37:g.205896725G>A			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I370	ENST00000367135.3	37	c.1110	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000174502		0.552	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	57	0.00	0	G	NM_052934		205896725	205896725	-1	no_errors	ENST00000340781	ensembl	human	known	69_37n	silent	51	37.04	30	SNP	0.466	A
SLC28A3	64078	genome.wustl.edu	37	9	86912178	86912178	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:86912178A>T	ENST00000376238.4	-	8	868	c.819T>A	c.(817-819)ttT>ttA	p.F273L	SLC28A3_ENST00000537648.1_Missense_Mutation_p.F204L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	273					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CACCAAAGACAAATGAAGCAC	0.383																																					Ovarian(106;425 1539 34835 42413 43572)	dbGAP											0													70.0	73.0	72.0					9																	86912178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.819T>A	9.37:g.86912178A>T	ENSP00000365413:p.Phe273Leu		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.F273L	ENST00000376238.4	37	c.819	CCDS6670.1	9	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269912	0.80469	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.45668	0.89;0.89	5.57	0.631	0.17699	Na dependent nucleoside transporter (1);	0.057044	0.64402	D	0.000001	T	0.59115	0.2170	M	0.81802	2.56	0.51012	D	0.999902	D;D	0.67145	0.996;0.996	D;D	0.67900	0.954;0.954	T	0.58504	-0.7625	10	0.87932	D	0	-22.0332	8.7373	0.34537	0.7246:0.0:0.2754:0.0	.	204;273	B4E2S8;Q9HAS3	.;S28A3_HUMAN	L	273;204	ENSP00000365413:F273L;ENSP00000446438:F204L	ENSP00000365413:F273L	F	-	3	2	SLC28A3	86101998	1.000000	0.71417	0.928000	0.36995	0.963000	0.63663	1.113000	0.31184	-0.121000	0.11787	-0.400000	0.06385	TTT	SLC28A3	-	pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000197506		0.383	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	34	0.00	0	A	NM_022127		86912178	86912178	-1	no_errors	ENST00000376238	ensembl	human	known	69_37n	missense	57	54.40	68	SNP	1.000	T
SMG1P3	100271836	genome.wustl.edu	37	16	21475169	21475169	+	RNA	SNP	C	C	T	rs202041804	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:21475169C>T	ENST00000520823.2	-	0	316																											TATTTCAGAACAGGACTCAGG	0.358																																						dbGAP											0																																										-	-	-			0																															16.37:g.21475169C>T				RNA	SNP	-	NULL	ENST00000520823.2	37	NULL		16																																																																																			SLC7A5P1	-	-	ENSG00000180747		0.358	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	SLC7A5P1	HGNC	pseudogene	OTTHUMT00000378302.2	13	0.00	0	C			21475169	21475169	-1	no_errors	ENST00000520823	ensembl	human	known	69_37n	rna	42	32.26	20	SNP	0.998	T
SLFN12	55106	genome.wustl.edu	37	17	33738553	33738553	+	Missense_Mutation	SNP	G	G	A	rs572958618	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:33738553G>A	ENST00000394562.1	-	6	2064	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L	RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000452764.3_Missense_Mutation_p.S514L|SLFN12_ENST00000304905.5_Missense_Mutation_p.S514L|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATTACTTGCGACCTTAAATC	0.398													G|||	18	0.00359425	0.0	0.0	5008	,	,		19424	0.0		0.0	False		,,,				2504	0.0184					dbGAP											0													79.0	78.0	78.0					17																	33738553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1541C>T	17.37:g.33738553G>A	ENSP00000378063:p.Ser514Leu		A8K711|Q9NP47	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.S514L	ENST00000394562.1	37	c.1541	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.379548	0.00205	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03831	3.79;3.79;3.79	2.49	-4.98	0.03019	.	.	.	.	.	T	0.01835	0.0058	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45659	-0.9246	9	0.08381	T	0.77	.	1.7414	0.02953	0.2057:0.2911:0.3556:0.1477	.	514	Q8IYM2	SLN12_HUMAN	L	514	ENSP00000378063:S514L;ENSP00000302077:S514L;ENSP00000394903:S514L	ENSP00000302077:S514L	S	-	2	0	SLFN12	30762666	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.620000	0.00207	-2.152000	0.00794	-1.753000	0.00675	TCG	SLFN12	-	NULL	ENSG00000172123		0.398	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	78	0.00	0	G	NM_018042		33738553	33738553	-1	no_errors	ENST00000304905	ensembl	human	known	69_37n	missense	166	34.25	87	SNP	0.000	A
SLFN13	146857	genome.wustl.edu	37	17	33769034	33769034	+	Silent	SNP	G	G	A	rs62078110	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:33769034G>A	ENST00000285013.6	-	5	1745	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	SLFN13_ENST00000526861.1_Silent_p.T490T|SLFN13_ENST00000533791.1_Silent_p.T490T|SLFN13_ENST00000542635.1_Silent_p.T490T|SLFN13_ENST00000534689.1_Silent_p.T172T|SLFN13_ENST00000360502.2_Silent_p.T172T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	490						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.T490T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTAAAGGCGGTGCGAGTGC	0.567													G|||	2284	0.45607	0.4569	0.4337	5008	,	,		25283	0.4921		0.4165	False		,,,				2504	0.4744					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											101.0	87.0	92.0					17																	33769034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1470C>T	17.37:g.33769034G>A			E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.T490	ENST00000285013.6	37	c.1470	CCDS32620.1	17																																																																																			SLFN13	-	NULL	ENSG00000154760		0.567	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	19	0.00	0	G	NM_144682		33769034	33769034	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	silent	47	58.77	67	SNP	0.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2666869	2666869	+	Splice_Site	SNP	A	A	G	rs200521548	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr18:2666869A>G	ENST00000320876.6	+	3	601	c.263A>G	c.(262-264)gAt>gGt	p.D88G	SMCHD1_ENST00000261598.8_Splice_Site_p.D88G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	88					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTGATTACAGATGAAACTGTT	0.338													A|||	2	0.000399361	0.0	0.0	5008	,	,		20647	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													82.0	72.0	75.0					18																	2666869		1890	4115	6005	-	-	-	SO:0001630	splice_region_variant	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.263-1A>G	18.37:g.2666869A>G			O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.D88G	ENST00000320876.6	37	c.263	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	A	8.640	0.895765	0.17686	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22945	1.93;1.93	5.66	4.5	0.54988	.	0.355285	0.30043	N	0.010550	T	0.15478	0.0373	N	0.24115	0.695	0.37685	D	0.923628	B	0.02656	0.0	B	0.04013	0.001	T	0.12192	-1.0557	9	.	.	.	.	9.5151	0.39100	0.864:0.0:0.136:0.0	.	88	A6NHR9	SMHD1_HUMAN	G	88	ENSP00000326603:D88G;ENSP00000261598:D88G	.	D	+	2	0	SMCHD1	2656869	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.588000	0.46137	2.283000	0.76528	0.477000	0.44152	GAT	SMCHD1	-	NULL	ENSG00000101596		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	90	0.00	0	A		Missense_Mutation	2666869	2666869	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	34	64.21	61	SNP	1.000	G
SMG1	23049	genome.wustl.edu	37	16	18872050	18872050	+	Silent	SNP	C	C	T	rs62046312	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:18872050C>T	ENST00000446231.2	-	26	4156	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	SMG1_ENST00000389467.3_Silent_p.Q1248Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1248	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACAATTCTAACTGCTCGGTAC	0.328													c|||	917	0.183107	0.2738	0.2378	5008	,	,		17259	0.1151		0.1282	False		,,,				2504	0.1483					dbGAP											0													21.0	20.0	20.0					16																	18872050		1612	3627	5239	-	-	-	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.3744G>A	16.37:g.18872050C>T			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	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.Q1248	ENST00000446231.2	37	c.3744	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000157106		0.328	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	49	0.00	0	C	NM_015092		18872050	18872050	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	silent	87	49.12	84	SNP	0.981	T
MTCL1	23255	genome.wustl.edu	37	18	8783933	8783933	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr18:8783933C>T	ENST00000306329.11	+	5	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	SOGA2_ENST00000400050.3_Missense_Mutation_p.R275C|SOGA2_ENST00000359865.3_Missense_Mutation_p.R275C|SOGA2_ENST00000517570.1_Missense_Mutation_p.R275C|SOGA2_ENST00000306285.7_5'UTR																							CACTGAGCTCCGCCGCCACCT	0.642																																						dbGAP											0													72.0	78.0	76.0					18																	8783933		2203	4299	6502	-	-	-	SO:0001583	missense	0																														ENST00000306329.11:c.1903C>T	18.37:g.8783933C>T	ENSP00000305027:p.Arg635Cys			Missense_Mutation	SNP	pfam_DUF3166	p.R275C	ENST00000306329.11	37	c.823		18	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853240	0.32699	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.25250	1.81;1.89;1.81	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000037	T	0.59183	0.2175	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.63400	-0.6646	10	0.87932	D	0	-31.2796	20.0697	0.97716	0.0:1.0:0.0:0.0	.	296;275	A8MQ54;Q9Y4B5-3	.;.	C	296;275;275;275	ENSP00000429556:R275C;ENSP00000352927:R275C;ENSP00000382924:R275C	ENSP00000305027:R296C	R	+	1	0	CCDC165	8773933	1.000000	0.71417	0.993000	0.49108	0.787000	0.44495	5.890000	0.69774	2.756000	0.94617	0.650000	0.86243	CGC	SOGA2	-	pfam_DUF3166	ENSG00000168502		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	10	0.00	0	C			8783933	8783933	+1	no_errors	ENST00000359865	ensembl	human	known	69_37n	missense	2	80.00	8	SNP	1.000	T
SORCS2	57537	genome.wustl.edu	37	4	7738913	7738913	+	Intron	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:7738913A>G	ENST00000507866.2	+	26	3524				SORCS2_ENST00000329016.9_Missense_Mutation_p.I972M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAGTTTATAGATGATGATC	0.622																																						dbGAP											0													49.0	63.0	58.0					4																	7738913		1717	3264	4981	-	-	-	SO:0001627	intron_variant	0			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3415+14A>G	4.37:g.7738913A>G			Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.I972M	ENST00000507866.2	37	c.2916	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	A	8.227	0.803797	0.16467	.	.	ENSG00000184985	ENST00000329016;ENST00000505529	T	0.15372	2.43	2.98	1.58	0.23477	.	.	.	.	.	T	0.09113	0.0225	.	.	.	0.20638	N	0.99988	P	0.48911	0.917	P	0.46659	0.523	T	0.07462	-1.0771	8	0.07030	T	0.85	.	2.7344	0.05236	0.3735:0.0:0.1957:0.4309	.	972	B5MED8	.	M	972;71	ENSP00000329124:I972M	ENSP00000329124:I972M	I	+	3	3	SORCS2	7789813	1.000000	0.71417	0.012000	0.15200	0.821000	0.46438	2.095000	0.41729	0.154000	0.19237	0.533000	0.62120	ATA	SORCS2	-	NULL	ENSG00000184985		0.622	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	12	0.00	0	A	NM_020777		7738913	7738913	+1	no_errors	ENST00000329016	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.999	G
SP1	6667	genome.wustl.edu	37	12	53800381	53800381	+	Missense_Mutation	SNP	C	C	G	rs201139894		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:53800381C>G	ENST00000327443.4	+	4	1786	c.1688C>G	c.(1687-1689)gCt>gGt	p.A563G	SP1_ENST00000426431.2_Missense_Mutation_p.A556G	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	563	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|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)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|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)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|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 involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GATCATGGAGCTCAGCTTGGT	0.498																																						dbGAP											0													105.0	98.0	101.0					12																	53800381		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1688C>G	12.37:g.53800381C>G	ENSP00000329357:p.Ala563Gly		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A563G	ENST00000327443.4	37	c.1688	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	C	4.023	0.001787	0.07819	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.06933	3.24;3.25	4.61	3.71	0.42584	.	0.505672	0.17729	N	0.163967	T	0.02888	0.0086	N	0.01048	-1.04	0.25161	N	0.990357	B	0.02656	0.0	B	0.01281	0.0	T	0.41645	-0.9497	10	0.16420	T	0.52	.	12.8729	0.57975	0.0:0.6878:0.3122:0.0	.	563	P08047	SP1_HUMAN	G	563;556	ENSP00000329357:A563G;ENSP00000404263:A556G	ENSP00000329357:A563G	A	+	2	0	SP1	52086648	0.995000	0.38212	1.000000	0.80357	0.943000	0.58893	1.660000	0.37397	1.299000	0.44798	0.462000	0.41574	GCT	SP1	-	NULL	ENSG00000185591		0.498	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	39	0.00	0	C			53800381	53800381	+1	no_errors	ENST00000327443	ensembl	human	known	69_37n	missense	36	64.36	65	SNP	1.000	G
SPAG11B	10407	genome.wustl.edu	37	8	7320265	7320265	+	Missense_Mutation	SNP	G	G	A	rs138861652	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr8:7320265G>A	ENST00000297498.2	-	2	344	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	SPAG11B_ENST00000361111.2_Missense_Mutation_p.R60W|SPAG11B_ENST00000398462.2_Missense_Mutation_p.R60W|SPAG11B_ENST00000317900.5_Missense_Mutation_p.R60W|SPAG11B_ENST00000359758.5_Missense_Mutation_p.R60W	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	60					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AAGAGGTCCCGTTTCACTGCG	0.572																																						dbGAP											0													11.0	16.0	14.0					8																	7320265		2119	4198	6317	-	-	-	SO:0001583	missense	0			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.178C>T	8.37:g.7320265G>A	ENSP00000297498:p.Arg60Trp		E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.R60W	ENST00000297498.2	37	c.178	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396207	0.42512	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.62788	0.92;0.0;0.75	2.58	0.61	0.17580	.	.	.	.	.	T	0.69242	0.3089	L	0.52573	1.65	0.09310	N	1	D;D;D;D;D	0.89917	0.986;1.0;1.0;0.998;0.999	P;D;D;P;P	0.69307	0.537;0.963;0.949;0.738;0.88	T	0.57711	-0.7764	9	0.66056	D	0.02	.	8.3001	0.32008	0.0:0.4868:0.5132:0.0	.	60;60;60;60;60	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	W	43;60;60;60;60;60	ENSP00000437154:R43W;ENSP00000354411:R60W;ENSP00000297498:R60W	ENSP00000297498:R60W	R	-	1	2	SPAG11B	7307675	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.041000	0.12084	0.141000	0.18875	0.454000	0.30748	CGG	SPAG11B	-	pfam_Sperm_Ag_HE2	ENSG00000164871		0.572	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	17	0.00	0	G	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7320265	7320265	-1	no_errors	ENST00000398462	ensembl	human	known	69_37n	missense	49	30.99	22	SNP	0.000	A
SPAG16	79582	genome.wustl.edu	37	2	214181974	214181974	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:214181974C>T	ENST00000331683.5	+	5	525	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	SPAG16_ENST00000447990.1_Missense_Mutation_p.L144F|SPAG16_ENST00000432529.2_Missense_Mutation_p.L144F|SPAG16_ENST00000374309.3_Missense_Mutation_p.L50F|SPAG16_ENST00000413312.1_Missense_Mutation_p.L113F|SPAG16_ENST00000272898.7_Missense_Mutation_p.L144F|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	144					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGTGACTGAACTTAGAACTGT	0.323																																						dbGAP											0													98.0	101.0	100.0					2																	214181974		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.430C>T	2.37:g.214181974C>T	ENSP00000332592:p.Leu144Phe		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L144F	ENST00000331683.5	37	c.430	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009788	0.35415	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.57273	0.44;0.41	5.78	3.91	0.45181	.	0.598323	0.15763	N	0.245825	T	0.38719	0.1051	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B	0.15473	0.006;0.013;0.003;0.012;0.01	B;B;B;B;B	0.16722	0.005;0.016;0.006;0.009;0.01	T	0.23368	-1.0190	10	0.23302	T	0.38	.	8.3131	0.32084	0.0:0.7605:0.1555:0.084	.	50;113;84;144;144	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	F	144;144;113;144;144;50	ENSP00000332592:L144F;ENSP00000363428:L50F	ENSP00000272898:L144F	L	+	1	0	SPAG16	213890219	0.003000	0.15002	0.012000	0.15200	0.243000	0.25628	0.851000	0.27751	0.716000	0.32124	0.655000	0.94253	CTT	SPAG16	-	NULL	ENSG00000144451		0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	101	0.00	0	C	NM_024532		214181974	214181974	+1	no_errors	ENST00000331683	ensembl	human	known	69_37n	missense	220	20.43	57	SNP	0.007	T
SPANXN4	441525	genome.wustl.edu	37	X	142121867	142121867	+	Silent	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:142121867A>G	ENST00000446864.1	+	2	232	c.135A>G	c.(133-135)gaA>gaG	p.E45E	SPANXN4_ENST00000370504.3_Silent_p.E44E	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	45										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGACAGAAAAAGCAAAAT	0.398																																						dbGAP											0													43.0	38.0	39.0					X																	142121867		1866	4082	5948	-	-	-	SO:0001819	synonymous_variant	0			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.135A>G	X.37:g.142121867A>G			Q0ZNK6|Q5W0S6	Silent	SNP	pfam_SPANX_prot	p.E45	ENST00000446864.1	37	c.135	CCDS48178.1	X																																																																																			SPANXN4	-	pfam_SPANX_prot	ENSG00000189326		0.398	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN4	HGNC	protein_coding	OTTHUMT00000377539.1	160	0.00	0	A	NM_001009613		142121867	142121867	+1	no_errors	ENST00000446864	ensembl	human	known	69_37n	silent	65	47.58	59	SNP	0.000	G
SPPL2C	162540	genome.wustl.edu	37	17	43922919	43922919	+	Missense_Mutation	SNP	G	G	A	rs199509707	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:43922919G>A	ENST00000329196.5	+	1	664	c.647G>A	c.(646-648)cGc>cAc	p.R216H	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	216						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CTACAGCGGCGCCGTGCCCGA	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		16784	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													39.0	38.0	39.0					17																	43922919		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.647G>A	17.37:g.43922919G>A	ENSP00000332488:p.Arg216His		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.R216H	ENST00000329196.5	37	c.647	CCDS32673.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.371	-0.128384	0.06753	.	.	ENSG00000185294	ENST00000329196	T	0.05382	3.45	5.24	-4.97	0.03029	.	0.559007	0.14929	N	0.290181	T	0.03011	0.0089	N	0.22421	0.69	0.20196	N	0.99992	B	0.18461	0.028	B	0.13407	0.009	T	0.33317	-0.9873	10	0.40728	T	0.16	-21.039	2.4569	0.04532	0.4474:0.119:0.312:0.1216	.	216	Q8IUH8	IMP5_HUMAN	H	216	ENSP00000332488:R216H	ENSP00000332488:R216H	R	+	2	0	AC217771.1	41278699	0.332000	0.24722	0.006000	0.13384	0.002000	0.02628	-0.633000	0.05483	-1.131000	0.02910	-1.830000	0.00593	CGC	SPPL2C	-	NULL	ENSG00000185294		0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	9	0.00	0	G	NM_175882		43922919	43922919	+1	no_errors	ENST00000329196	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.250	A
SRRM2	23524	genome.wustl.edu	37	16	2813183	2813183	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:2813183C>T	ENST00000301740.8	+	11	3203	c.2654C>T	c.(2653-2655)aCc>aTc	p.T885I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	885	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						AAATCTAGGACCCCTTCTAGA	0.507																																						dbGAP											0													81.0	73.0	76.0					16																	2813183		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.2654C>T	16.37:g.2813183C>T	ENSP00000301740:p.Thr885Ile		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.T885I	ENST00000301740.8	37	c.2654	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	7.970	0.748967	0.15710	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.35236	1.32	5.37	5.37	0.77165	.	0.089423	0.49305	N	0.000153	T	0.54532	0.1864	L	0.58101	1.795	0.36569	D	0.872896	D	0.69078	0.997	D	0.63488	0.915	T	0.60571	-0.7237	10	0.46703	T	0.11	-3.8654	16.6027	0.84820	0.0:1.0:0.0:0.0	.	885	Q9UQ35	SRRM2_HUMAN	I	885;885;137;850	ENSP00000301740:T885I	ENSP00000301740:T885I	T	+	2	0	SRRM2	2753184	0.897000	0.30589	0.976000	0.42696	0.920000	0.55202	3.836000	0.55813	2.540000	0.85666	0.650000	0.86243	ACC	SRRM2	-	NULL	ENSG00000167978		0.507	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	109	0.00	0	C			2813183	2813183	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	33	64.89	61	SNP	0.998	T
SSBP4	170463	genome.wustl.edu	37	19	18541704	18541704	+	Silent	SNP	A	A	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:18541704A>C	ENST00000270061.7	+	5	627	c.333A>C	c.(331-333)acA>acC	p.T111T	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Silent_p.T111T|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	111						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CAGGTGACACAATGGCCGCAG	0.657																																						dbGAP											0													33.0	35.0	34.0					19																	18541704		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.333A>C	19.37:g.18541704A>C			Q9BWW5	Silent	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.T111	ENST00000270061.7	37	c.333	CCDS12378.1	19																																																																																			SSBP4	-	pfam_SSDP_ss-bd	ENSG00000130511		0.657	SSBP4-002	KNOWN	basic|CCDS	protein_coding	SSBP4	HGNC	protein_coding	OTTHUMT00000466348.3	25	0.00	0	A	NM_032627		18541704	18541704	+1	no_errors	ENST00000270061	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	0.989	C
SSC5D	284297	genome.wustl.edu	37	19	56030009	56030009	+	Missense_Mutation	SNP	C	C	T	rs925878	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:56030009C>T	ENST00000389623.6	+	14	4389	c.4366C>T	c.(4366-4368)Ccc>Tcc	p.P1456S		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1456	Pro-rich.			P -> S (in Ref. 1; ACJ02751). {ECO:0000305}.	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						TCCCCTTGACCCCCTCACCCT	0.632													-|||	822	0.164137	0.0825	0.1902	5008	,	,		13016	0.2212		0.173	False		,,,				2504	0.1881					dbGAP											0													48.0	43.0	44.0					19																	56030009		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.4366C>T	19.37:g.56030009C>T	ENSP00000374274:p.Pro1456Ser		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.P1456S	ENST00000389623.6	37	c.4366	CCDS46196.1	19	408	0.18681318681318682	49	0.09959349593495935	82	0.2265193370165746	144	0.2517482517482518	133	0.17546174142480211	-	9.441	1.088029	0.20390	.	.	ENSG00000179954	ENST00000389623	T	0.01145	5.27	3.41	-0.807	0.10872	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.38243	-0.9670	8	0.39692	T	0.17	.	5.8496	0.18685	0.4305:0.395:0.1745:0.0	rs925878;rs52789735;rs60801143;rs925878	1456	A1L4H1	SRCRL_HUMAN	S	1456	ENSP00000374274:P1456S	ENSP00000374274:P1456S	P	+	1	0	SSC5D	60721821	0.002000	0.14202	0.000000	0.03702	0.139000	0.21198	0.636000	0.24644	-0.296000	0.08947	0.282000	0.19409	CCC	SSC5D	-	NULL	ENSG00000179954		0.632	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	84	0.00	0	C	XM_001718392		56030009	56030009	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	16	56.76	21	SNP	0.000	T
STAG3	10734	genome.wustl.edu	37	7	99795215	99795215	+	Intron	SNP	C	C	G	rs62482167	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:99795215C>G	ENST00000426455.1	+	11	1472				STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Intron|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGAGTACTGCTGTGATCCTT	0.453													C|||	710	0.141773	0.1513	0.1369	5008	,	,		22160	0.0883		0.17	False		,,,				2504	0.1585					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1066-186C>G	7.37:g.99795215C>G			A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	RNA	SNP	-	NULL	ENST00000426455.1	37	NULL	CCDS34703.1	7																																																																																			STAG3	-	-	ENSG00000066923		0.453	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	58	0.00	0	C	NM_012447		99795215	99795215	+1	no_errors	ENST00000440830	ensembl	human	known	69_37n	rna	10	44.44	8	SNP	0.096	G
STPG1	90529	genome.wustl.edu	37	1	24684728	24684728	+	3'UTR	SNP	G	G	A	rs11249092	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:24684728G>A	ENST00000374409.1	-	0	1564				GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000003583.8_3'UTR|STPG1_ENST00000337248.4_3'UTR|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_3'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCAGGGAGTCGTGCCGGAAGG	0.647													G|||	317	0.0632987	0.0552	0.098	5008	,	,		16403	0.002		0.1243	False		,,,				2504	0.0501					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.*305C>T	1.37:g.24684728G>A			Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	RNA	SNP	-	NULL	ENST00000374409.1	37	NULL	CCDS55581.1	1																																																																																			STPG1	-	-	ENSG00000001460		0.647	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	9	0.00	0	G	NM_178122		24684728	24684728	-1	no_errors	ENST00000468303	ensembl	human	known	69_37n	rna	2	66.67	4	SNP	0.000	A
SYCP1	6847	genome.wustl.edu	37	1	115398186	115398186	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:115398186T>A	ENST00000369522.3	+	2	341	c.101T>A	c.(100-102)tTc>tAc	p.F34Y	SYCP1_ENST00000369518.1_Missense_Mutation_p.F34Y	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	34	Asp/Glu-rich (acidic).				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)		GATTCCACTTTCTTCAAGGTA	0.418																																						dbGAP											0													59.0	59.0	59.0					1																	115398186		2203	4300	6503	-	-	-	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.101T>A	1.37:g.115398186T>A	ENSP00000358535:p.Phe34Tyr		O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.F34Y	ENST00000369522.3	37	c.101	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	T	7.654	0.683457	0.14907	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.41065	1.01;1.01;1.01	4.64	3.48	0.39840	.	0.463622	0.22620	N	0.057707	T	0.12518	0.0304	L	0.31294	0.92	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.17433	0.018;0.018	T	0.07271	-1.0781	10	0.15066	T	0.55	-0.0039	9.4377	0.38648	0.1646:0.0:0.0:0.8354	.	34;34	B7ZLS9;Q15431	.;SYCP1_HUMAN	Y	34	ENSP00000358535:F34Y;ENSP00000410011:F34Y;ENSP00000358531:F34Y	ENSP00000358531:F34Y	F	+	2	0	SYCP1	115199709	1.000000	0.71417	0.988000	0.46212	0.175000	0.22909	2.851000	0.48302	0.765000	0.33221	0.459000	0.35465	TTC	SYCP1	-	pfam_SCP-1	ENSG00000198765		0.418	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	11	0.00	0	T	NM_003176		115398186	115398186	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	missense	21	51.16	22	SNP	0.998	A
SYCP2L	221711	genome.wustl.edu	37	6	10910433	10910433	+	Splice_Site	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:10910433G>A	ENST00000283141.6	+	11	1168	c.872G>A	c.(871-873)aGg>aAg	p.R291K	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Splice_Site_p.R132K	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	291			R -> W. {ECO:0000269|PubMed:23033978}.			nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GACCAAAGAAGGTAAGTTGTG	0.308																																						dbGAP											0													85.0	81.0	83.0					6																	10910433		1828	4082	5910	-	-	-	SO:0001630	splice_region_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.872+1G>A	6.37:g.10910433G>A			A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.R291K	ENST00000283141.6	37	c.872	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352366	0.61293	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.48836	0.8;2.04	5.67	4.8	0.61643	.	0.152801	0.56097	N	0.000027	T	0.26231	0.0640	L	0.55103	1.725	0.80722	D	1	B;P	0.35793	0.197;0.521	B;B	0.32533	0.147;0.096	T	0.07539	-1.0767	10	0.31617	T	0.26	-17.6527	12.7338	0.57212	0.0765:0.0:0.9235:0.0	.	132;291	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	K	132;291	ENSP00000440676:R132K;ENSP00000283141:R291K	ENSP00000283141:R291K	R	+	2	0	SYCP2L	11018419	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.168000	0.58216	1.402000	0.46780	0.655000	0.94253	AGG	SYCP2L	-	NULL	ENSG00000153157		0.308	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	47	0.00	0	G	NM_194299	Missense_Mutation	10910433	10910433	+1	no_errors	ENST00000283141	ensembl	human	known	69_37n	missense	107	50.00	107	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152551687	152551687	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:152551687A>T	ENST00000367255.5	-	115	21791	c.21190T>A	c.(21190-21192)Tgt>Agt	p.C7064S	SYNE1_ENST00000356820.4_Missense_Mutation_p.C1588S|SYNE1_ENST00000448038.1_Missense_Mutation_p.C6993S|SYNE1_ENST00000341594.5_Missense_Mutation_p.C6676S|SYNE1_ENST00000265368.4_Missense_Mutation_p.C7064S|SYNE1_ENST00000423061.1_Missense_Mutation_p.C6993S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7064					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)		GTTACCTGACAGTCTTTCAGT	0.383										HNSCC(10;0.0054)																												dbGAP											0													251.0	211.0	225.0					6																	152551687		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.21190T>A	6.37:g.152551687A>T	ENSP00000356224:p.Cys7064Ser		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.C7064S	ENST00000367255.5	37	c.21190	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581381	0.86748	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.65544	0.2701	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.992	T	0.71922	-0.4446	10	0.66056	D	0.02	.	15.7901	0.78350	1.0:0.0:0.0:0.0	.	7064;7064;6993	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	S	7064;6993;7064;6993;6676;1588	ENSP00000356224:C7064S;ENSP00000396024:C6993S;ENSP00000265368:C7064S;ENSP00000390975:C6993S;ENSP00000341887:C6676S;ENSP00000349276:C1588S	ENSP00000265368:C7064S	C	-	1	0	SYNE1	152593380	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.941000	0.92964	2.125000	0.65367	0.460000	0.39030	TGT	SYNE1	-	pfam_Spectrin_repeat,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	42	0.00	0	A	NM_182961		152551687	152551687	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	137	31.84	64	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152779917	152779917	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:152779917C>G	ENST00000367255.5	-	22	3144	c.2543G>C	c.(2542-2544)aGt>aCt	p.S848T	SYNE1_ENST00000367248.3_Missense_Mutation_p.S838T|SYNE1_ENST00000448038.1_Missense_Mutation_p.S855T|SYNE1_ENST00000413186.2_Missense_Mutation_p.S848T|SYNE1_ENST00000367253.4_Missense_Mutation_p.S848T|SYNE1_ENST00000341594.5_Missense_Mutation_p.S855T|SYNE1_ENST00000495090.2_Missense_Mutation_p.S415T|SYNE1_ENST00000265368.4_Missense_Mutation_p.S848T|SYNE1_ENST00000423061.1_Missense_Mutation_p.S855T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	848					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)		AAAAAGGGCACTCGATTGTGC	0.388										HNSCC(10;0.0054)																												dbGAP											0													119.0	112.0	114.0					6																	152779917		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.2543G>C	6.37:g.152779917C>G	ENSP00000356224:p.Ser848Thr		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.S848T	ENST00000367255.5	37	c.2543	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526672	0.27299	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.48201	1.4;1.4;1.4;1.4;0.82;1.4;1.4;1.4;1.4	5.34	4.41	0.53225	.	0.103648	0.42294	D	0.000736	T	0.12475	0.0303	N	0.04203	-0.255	0.80722	D	1	B;B;B;B;B;B;B	0.15141	0.0;0.001;0.012;0.001;0.007;0.001;0.001	B;B;B;B;B;B;B	0.16289	0.002;0.001;0.004;0.002;0.015;0.001;0.003	T	0.06716	-1.0811	10	0.22109	T	0.4	.	12.7734	0.57434	0.0:0.6081:0.3919:0.0	.	831;848;415;838;848;848;855	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	T	848;855;848;855;855;848;838;848;415	ENSP00000356224:S848T;ENSP00000396024:S855T;ENSP00000265368:S848T;ENSP00000390975:S855T;ENSP00000341887:S855T;ENSP00000356222:S848T;ENSP00000356217:S838T;ENSP00000414510:S848T;ENSP00000438508:S415T	ENSP00000265368:S848T	S	-	2	0	SYNE1	152821610	0.814000	0.29104	0.995000	0.50966	0.989000	0.77384	2.792000	0.47837	2.643000	0.89663	0.650000	0.86243	AGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	50	0.00	0	C	NM_182961		152779917	152779917	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	79	47.68	72	SNP	0.744	G
SYPL1	6856	genome.wustl.edu	37	7	105733552	105733553	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:105733552_105733553delAA	ENST00000011473.2	-	5	533_534	c.487_488delTT	c.(487-489)ttgfs	p.L163fs	SYPL1_ENST00000470347.1_Frame_Shift_Del_p.L145fs|SYPL1_ENST00000455385.2_Frame_Shift_Del_p.L145fs	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	163	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.			LWL -> CGW (in Ref. 7). {ECO:0000305}.	synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CACCAACCACAAAAAAGTGGCA	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.487_488delTT	7.37:g.105733556_105733557delAA	ENSP00000011473:p.Leu163fs		A4D0R2|Q96AR8	Frame_Shift_Del	DEL	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.L163fs	ENST00000011473.2	37	c.488_487	CCDS5736.1	7																																																																																			SYPL1	-	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	ENSG00000008282		0.337	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYPL1	HGNC	protein_coding	OTTHUMT00000349221.1	46	0.00	0	AA			105733552	105733553	-1	no_errors	ENST00000011473	ensembl	human	known	69_37n	frame_shift_del	79	21.78	22	DEL	1.000:1.000	-
SYT13	57586	genome.wustl.edu	37	11	45265780	45265780	+	Silent	SNP	C	C	G	rs143747628		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:45265780C>G	ENST00000020926.3	-	6	1215	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	368	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGCCTGCAGCAGGTCGTCAG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20721	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													107.0	93.0	97.0					11																	45265780		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1104G>C	11.37:g.45265780C>G			A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L368	ENST00000020926.3	37	c.1104	CCDS31470.1	11																																																																																			SYT13	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000019505		0.592	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT13	HGNC	protein_coding	OTTHUMT00000390110.1	35	0.00	0	C	NM_020826		45265780	45265780	-1	no_errors	ENST00000020926	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	1.000	G
TAF8	129685	genome.wustl.edu	37	6	42044897	42044897	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:42044897G>A	ENST00000372977.3	+	8	858	c.840G>A	c.(838-840)tcG>tcA	p.S280S	TAF8_ENST00000456846.2_Silent_p.S280S|TAF8_ENST00000494547.1_Missense_Mutation_p.R321Q|TAF8_ENST00000465926.1_Silent_p.S204S|TAF8_ENST00000372982.4_Missense_Mutation_p.R321Q	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	280					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTCCTTGTCGGGTAGCCGGA	0.532																																						dbGAP											0													92.0	94.0	93.0					6																	42044897		1923	4134	6057	-	-	-	SO:0001819	synonymous_variant	0			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.840G>A	6.37:g.42044897G>A			Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP	p.R321Q	ENST00000372977.3	37	c.962	CCDS43462.1	6	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079509	0.55753	.	.	ENSG00000137413	ENST00000494547;ENST00000372982	.	.	.	5.73	-5.86	0.02304	.	.	.	.	.	T	0.10208	0.0250	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.37056	-0.9722	7	0.87932	D	0	.	5.1564	0.15036	0.5617:0.0879:0.2389:0.1115	.	321	Q7Z7C8-4	.	Q	321	.	ENSP00000362073:R321Q	R	+	2	0	TAF8	42152875	0.000000	0.05858	0.002000	0.10522	0.970000	0.65996	-4.615000	0.00208	-1.450000	0.01936	-1.202000	0.01658	CGG	TAF8	-	NULL	ENSG00000137413		0.532	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF8	HGNC	protein_coding	OTTHUMT00000357901.1	53	0.00	0	G	NM_138572		42044897	42044897	+1	no_errors	ENST00000372982	ensembl	human	known	69_37n	missense	41	49.40	41	SNP	0.001	A
TAS1R3	83756	genome.wustl.edu	37	1	1269622	1269622	+	Silent	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:1269622G>C	ENST00000339381.5	+	6	2369	c.2337G>C	c.(2335-2337)gtG>gtC	p.V779V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	779					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)		TCTCCTTTGTGCCCCTCCTGG	0.657																																						dbGAP											0													34.0	24.0	27.0					1																	1269622		2194	4294	6488	-	-	-	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.2337G>C	1.37:g.1269622G>C			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.V779	ENST00000339381.5	37	c.2337	CCDS30556.1	1																																																																																			TAS1R3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000169962		0.657	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	14	0.00	0	G			1269622	1269622	+1	no_errors	ENST00000339381	ensembl	human	known	69_37n	silent	4	50.00	4	SNP	0.943	C
TAS1R2	80834	genome.wustl.edu	37	1	19166642	19166642	+	Silent	SNP	G	G	A	rs201343907		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:19166642G>A	ENST00000375371.3	-	6	1992	c.1971C>T	c.(1969-1971)tgC>tgT	p.C657C		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	657					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)	TCTTGAAGGCGCAGACGATCT	0.592																																						dbGAP											0													126.0	130.0	129.0					1																	19166642		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1971C>T	1.37:g.19166642G>A			Q5TZ19	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.C657	ENST00000375371.3	37	c.1971	CCDS187.1	1																																																																																			TAS1R2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000179002		0.592	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	105	0.00	0	G			19166642	19166642	-1	no_errors	ENST00000375371	ensembl	human	novel	69_37n	silent	24	51.92	27	SNP	0.260	A
TAS2R43	259289	genome.wustl.edu	37	12	11244194	11244194	+	Missense_Mutation	SNP	T	T	C	rs71443637	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:11244194T>C	ENST00000531678.1	-	1	718	c.635A>G	c.(634-636)cAt>cGt	p.H212R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	212				H -> R (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCCTTTACCATGGAGCTGCAT	0.408													.|||	3114	0.621805	0.0998	0.7104	5008	,	,		13446	0.9425		0.7525	False		,,,				2504	0.7996					dbGAP											0													123.0	99.0	107.0					12																	11244194		2155	4165	6320	-	-	-	SO:0001583	missense	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.635A>G	12.37:g.11244194T>C	ENSP00000431719:p.His212Arg		P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.H212R	ENST00000531678.1	37	c.635	CCDS53749.1	12	949	0.43452380952380953	28	0.056910569105691054	163	0.45027624309392267	439	0.7674825174825175	319	0.420844327176781	-	2.129	-0.399500	0.04865	.	.	ENSG00000255374	ENST00000531678	T	0.00737	5.76	1.45	-1.32	0.09201	.	.	.	.	.	T	0.00012	0.0000	M	0.86178	2.8	0.80722	P	0.0	.	.	.	.	.	.	T	0.07028	-1.0794	6	0.52906	T	0.07	.	4.3248	0.11034	0.0:0.4339:0.0:0.5661	.	.	.	.	R	212	ENSP00000431719:H212R	ENSP00000431719:H212R	H	-	2	0	TAS2R43	11135461	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.381000	0.07417	-0.374000	0.07967	-1.273000	0.01405	CAT	TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	124	0.00	0	T	NM_176884		11244194	11244194	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	missense	32	81.29	139	SNP	0.000	C
TAS2R43	259289	genome.wustl.edu	37	12	11244725	11244725	+	Missense_Mutation	SNP	C	C	G	rs68157013	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:11244725C>G	ENST00000531678.1	-	1	187	c.104G>C	c.(103-105)tGg>tCg	p.W35S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	35				W -> S (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTCTTGAACCACTCAATGGA	0.383													.|||	3113	0.621605	0.0976	0.7118	5008	,	,		11851	0.9425		0.7525	False		,,,				2504	0.8006					dbGAP											0													45.0	39.0	41.0					12																	11244725		1858	3572	5430	-	-	-	SO:0001583	missense	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.104G>C	12.37:g.11244725C>G	ENSP00000431719:p.Trp35Ser		P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.W35S	ENST00000531678.1	37	c.104	CCDS53749.1	12	926	0.423992673992674	31	0.06300813008130081	161	0.4447513812154696	418	0.7307692307692307	316	0.41688654353562005	-	1.291	-0.607724	0.03717	.	.	ENSG00000255374	ENST00000531678	T	0.01113	5.32	1.97	0.939	0.19506	.	.	.	.	.	T	0.00012	0.0000	H	0.97051	3.93	0.30802	P	0.739796	.	.	.	.	.	.	T	0.26573	-1.0099	6	0.72032	D	0.01	.	5.2922	0.15733	0.3385:0.6615:0.0:0.0	.	.	.	.	S	35	ENSP00000431719:W35S	ENSP00000431719:W35S	W	-	2	0	TAS2R43	11135992	0.155000	0.22806	0.246000	0.24233	0.092000	0.18411	1.065000	0.30592	0.107000	0.17824	0.184000	0.17185	TGG	TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.383	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	9	0.00	0	C	NM_176884		11244725	11244725	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	missense	7	87.27	48	SNP	0.929	G
TBC1D3P5	440419	genome.wustl.edu	37	17	25746619	25746619	+	RNA	SNP	A	A	T	rs1531490	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:25746619A>T	ENST00000586223.1	+	0	299					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGACATCATTATGAAGTATGA	0.517													A|||	2783	0.555711	0.5946	0.4568	5008	,	,		20354	0.6677		0.5328	False		,,,				2504	0.4816					dbGAP											0																																										-	-	-			0					17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25746619A>T				RNA	SNP	-	NULL	ENST00000586223.1	37	NULL		17																																																																																			TBC1D3P5	-	-	ENSG00000266433		0.517	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	HGNC	pseudogene	OTTHUMT00000451073.1	20	0.00	0	A	NR_033892		25746619	25746619	+1	no_errors	ENST00000581469	ensembl	human	known	69_37n	rna	8	72.41	21	SNP	0.021	T
TBC1D3P5	440419	genome.wustl.edu	37	17	25749688	25749688	+	RNA	SNP	G	G	A	rs4795651	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:25749688G>A	ENST00000586223.1	+	0	1281					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		TCGATATGGAGTCAAGTAAGC	0.557													G|||	2770	0.553115	0.5734	0.4539	5008	,	,		20375	0.6776		0.5348	False		,,,				2504	0.4867					dbGAP											0																																										-	-	-			0					17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25749688G>A				RNA	SNP	-	NULL	ENST00000586223.1	37	NULL		17																																																																																			TBC1D3P5	-	-	ENSG00000266433		0.557	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	HGNC	pseudogene	OTTHUMT00000451073.1	21	0.00	0	G	NR_033892		25749688	25749688	+1	no_errors	ENST00000581469	ensembl	human	known	69_37n	rna	8	68.00	17	SNP	0.960	A
TBC1D3P5	440419	genome.wustl.edu	37	17	25750970	25750970	+	RNA	SNP	G	G	A	rs9892881	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:25750970G>A	ENST00000586223.1	+	0	1289					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		TTTTTAGGCAGCGGGAACTAT	0.418													G|||	2871	0.573283	0.6467	0.4597	5008	,	,		18033	0.6776		0.5348	False		,,,				2504	0.4867					dbGAP											0																																										-	-	-			0					17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25750970G>A				RNA	SNP	-	NULL	ENST00000586223.1	37	NULL		17																																																																																			TBC1D3P5	-	-	ENSG00000266433		0.418	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	HGNC	pseudogene	OTTHUMT00000451073.1	15	0.00	0	G	NR_033892		25750970	25750970	+1	no_errors	ENST00000586223	ensembl	human	known	69_37n	rna	6	50.00	6	SNP	1.000	A
TBC1D3P5	440419	genome.wustl.edu	37	17	25753587	25753587	+	RNA	SNP	C	C	T	rs1993829	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:25753587C>T	ENST00000586223.1	+	0	1595					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		TTCAGAGGAGCAAGTCCACGT	0.552													T|||	2893	0.577676	0.6498	0.4582	5008	,	,		22802	0.6845		0.5368	False		,,,				2504	0.4969					dbGAP											0																																										-	-	-			0					17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25753587C>T				Splice_Site	SNP	-	NULL	ENST00000586223.1	37	c.NULL		17																																																																																			TBC1D3P5	-	-	ENSG00000266433		0.552	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	HGNC	pseudogene	OTTHUMT00000451073.1	69	0.00	0	C	NR_033892		25753587	25753587	+1	no_errors	ENST00000586223	ensembl	human	known	69_37n	splice_site	34	67.62	71	SNP	1.000	T
TBCEL	219899	genome.wustl.edu	37	11	120925823	120925823	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:120925823G>A	ENST00000529397.1	+	5	618	c.518G>A	c.(517-519)tGt>tAt	p.C173Y	TBCEL_ENST00000422003.2_Missense_Mutation_p.C173Y	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	173						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCTATTTGCTGTCATTCTCTT	0.383																																						dbGAP											0													145.0	131.0	136.0					11																	120925823		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.518G>A	11.37:g.120925823G>A	ENSP00000437184:p.Cys173Tyr		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.C173Y	ENST00000529397.1	37	c.518	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	4.667	0.124066	0.08931	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726	T;T;T	0.47869	0.83;0.83;0.83	5.82	5.82	0.92795	.	0.041420	0.85682	D	0.000000	T	0.34832	0.0911	L	0.35644	1.08	0.53688	D	0.999976	B	0.09022	0.002	B	0.04013	0.001	T	0.16719	-1.0393	10	0.02654	T	1	-34.9081	14.877	0.70501	0.0:0.0:0.8565:0.1435	.	173	Q5QJ74	TBCEL_HUMAN	Y	173	ENSP00000437184:C173Y;ENSP00000403925:C173Y;ENSP00000432783:C173Y	ENSP00000403925:C173Y	C	+	2	0	TBCEL	120431033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.692000	0.74578	2.765000	0.95021	0.591000	0.81541	TGT	TBCEL	-	NULL	ENSG00000154114		0.383	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	103	0.95	1	G	NM_152715		120925823	120925823	+1	no_errors	ENST00000422003	ensembl	human	known	69_37n	missense	208	13.33	32	SNP	1.000	A
TCF20	6942	genome.wustl.edu	37	22	42607206	42607206	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:42607206G>A	ENST00000359486.3	-	1	4242	c.4106C>T	c.(4105-4107)tCt>tTt	p.S1369F	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.S1369F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACTGTTCGAAGATGCGCTCCT	0.493																																						dbGAP											0													92.0	91.0	91.0					22																	42607206		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4106C>T	22.37:g.42607206G>A	ENSP00000352463:p.Ser1369Phe		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.S1369F	ENST00000359486.3	37	c.4106	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002569	0.54254	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60171	0.22;0.21	5.8	5.8	0.92144	.	0.276029	0.31589	N	0.007383	T	0.55705	0.1937	N	0.19112	0.55	0.80722	D	1	P;P	0.52692	0.955;0.924	P;P	0.51135	0.66;0.459	T	0.52185	-0.8609	10	0.32370	T	0.25	-10.2842	20.0609	0.97674	0.0:0.0:1.0:0.0	.	1369;1369	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	1369	ENSP00000352463:S1369F;ENSP00000335561:S1369F	ENSP00000335561:S1369F	S	-	2	0	TCF20	40937150	0.997000	0.39634	0.894000	0.35097	0.677000	0.39632	4.103000	0.57783	2.755000	0.94549	0.655000	0.94253	TCT	TCF20	-	NULL	ENSG00000100207		0.493	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	72	0.00	0	G	NM_181492		42607206	42607206	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	missense	28	63.64	49	SNP	0.574	A
TCF7	6932	genome.wustl.edu	37	5	133451688	133451688	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:133451688G>A	ENST00000321584.4	+	3	601	c.405G>A	c.(403-405)tcG>tcA	p.S135S	TCF7_ENST00000342854.5_Silent_p.S135S|TCF7_ENST00000378564.1_Silent_p.S135S|TCF7_ENST00000518915.1_Silent_p.S20S|TCF7_ENST00000432532.2_Silent_p.S20S|TCF7_ENST00000520958.1_Silent_p.S20S|TCF7_ENST00000378560.4_Silent_p.S20S|TCF7_ENST00000395023.1_Silent_p.S20S|TCF7_ENST00000321603.6_Silent_p.S135S|TCF7_ENST00000395029.1_Silent_p.S135S			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	135					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)			CACCCCCCTCGGGAGCAGGGC	0.647																																						dbGAP											0													43.0	42.0	43.0					5																	133451688		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	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.405G>A	5.37:g.133451688G>A			B3KSH3|Q86WR9|Q9UKI4	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S135	ENST00000321584.4	37	c.405		5																																																																																			TCF7	-	pfam_CTNNB1-bd_N	ENSG00000081059		0.647	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		84	0.00	0	G	NM_201634		133451688	133451688	+1	no_errors	ENST00000321584	ensembl	human	known	69_37n	silent	11	68.57	24	SNP	0.297	A
TCP10	6953	genome.wustl.edu	37	6	167789493	167789493	+	Missense_Mutation	SNP	T	T	C	rs3010590	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:167789493T>C	ENST00000397829.4	-	6	816	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	TCP10_ENST00000366827.2_Missense_Mutation_p.T217A	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	244						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGCAGCGTGGTGGCCTGGGAA	0.587													N|||	1278	0.255192	0.3434	0.2118	5008	,	,		15348	0.1657		0.2634	False		,,,				2504	0.2505					dbGAP											0													23.0	28.0	27.0					6																	167789493		1975	4166	6141	-	-	-	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.649A>G	6.37:g.167789493T>C	ENSP00000380929:p.Thr217Ala		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.T217A	ENST00000397829.4	37	c.649	CCDS43527.1	6	439	0.20100732600732601	110	0.22357723577235772	72	0.19889502762430938	90	0.15734265734265734	167	0.22031662269129287	C	1.066	-0.671381	0.03403	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.25579	1.79;1.79	1.65	0.695	0.18070	.	.	.	.	.	T	0.02571	0.0078	N	0.02802	-0.49	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43925	-0.9361	8	0.31617	T	0.26	.	3.9987	0.09570	0.0:0.5352:0.0:0.4648	rs3010590;rs10455986;rs57900456	244;244	Q12799;Q12799-2	TCP10_HUMAN;.	A	217	ENSP00000355792:T217A;ENSP00000380929:T217A	ENSP00000355792:T217A	T	-	1	0	TCP10	167709483	0.001000	0.12720	0.000000	0.03702	0.188000	0.23474	-0.366000	0.07563	-0.117000	0.11872	-0.665000	0.03846	ACC	TCP10	-	NULL	ENSG00000203690		0.587	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	30	0.00	0	T	NM_004610		167789493	167789493	-1	no_errors	ENST00000397829	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.000	C
TCP10L2	401285	genome.wustl.edu	37	6	167591954	167591954	+	Missense_Mutation	SNP	G	G	A	rs2297463	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:167591954G>A	ENST00000366832.2	+	5	712	c.581G>A	c.(580-582)cGt>cAt	p.R194H		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	194										endometrium(1)|kidney(2)|lung(3)	6						CCCGGGAGACGTCAAGACAGA	0.502																																						dbGAP											0													37.0	52.0	47.0					6																	167591954		686	1568	2254	-	-	-	SO:0001583	missense	0				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.581G>A	6.37:g.167591954G>A	ENSP00000355797:p.Arg194His			Missense_Mutation	SNP	NULL	p.R194H	ENST00000366832.2	37	c.581	CCDS47514.1	6	.	.	.	.	.	.	.	.	.	.	g	6.561	0.471887	0.12461	.	.	ENSG00000166984	ENST00000366832	T	0.16897	2.31	2.27	-2.44	0.06502	.	.	.	.	.	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45160	-0.9280	9	0.35671	T	0.21	.	0.1741	0.00116	0.2315:0.1681:0.2379:0.3625	.	194	B9ZVM9	TCP2L_HUMAN	H	194	ENSP00000355797:R194H	ENSP00000283507:R194H	R	+	2	0	TCP10L2	167511944	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	-0.054000	0.11826	-0.704000	0.05042	-1.252000	0.01501	CGT	TCP10L2	-	NULL	ENSG00000166984		0.502	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TCP10L2	HGNC	protein_coding	OTTHUMT00000043112.5	119	0.00	0	G	XR_040749		167591954	167591954	+1	no_errors	ENST00000283507	ensembl	human	known	69_37n	missense	294	23.04	88	SNP	0.007	A
TCP10L2	401285	genome.wustl.edu	37	6	167591956	167591956	+	Nonsense_Mutation	SNP	C	C	T	rs2297462	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:167591956C>T	ENST00000366832.2	+	5	714	c.583C>T	c.(583-585)Caa>Taa	p.Q195*		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	195										endometrium(1)|kidney(2)|lung(3)	6						CGGGAGACGTCAAGACAGAAG	0.507																																						dbGAP											0													36.0	52.0	47.0					6																	167591956		686	1565	2251	-	-	-	SO:0001587	stop_gained	0				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.583C>T	6.37:g.167591956C>T	ENSP00000355797:p.Gln195*			Nonsense_Mutation	SNP	NULL	p.Q195*	ENST00000366832.2	37	c.583	CCDS47514.1	6	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646554	0.47258	.	.	ENSG00000166984	ENST00000366832	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.99999891782	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	8.058	0.30617	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000283507:Q195X	Q	+	1	0	TCP10L2	167511946	0.001000	0.12720	0.008000	0.14137	0.023000	0.10783	1.093000	0.30939	1.277000	0.44412	0.162000	0.16502	CAA	TCP10L2	-	NULL	ENSG00000166984		0.507	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TCP10L2	HGNC	protein_coding	OTTHUMT00000043112.5	121	0.00	0	C	XR_040749		167591956	167591956	+1	no_errors	ENST00000283507	ensembl	human	known	69_37n	nonsense	297	22.45	86	SNP	0.005	T
TCP10L2	401285	genome.wustl.edu	37	6	167594216	167594216	+	Missense_Mutation	SNP	C	C	T	rs2297459	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:167594216C>T	ENST00000366832.2	+	7	996	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	289										endometrium(1)|kidney(2)|lung(3)	6						CAGTGCAGAGCGGCAGGTAGG	0.567													C|||	702	0.140176	0.1059	0.1297	5008	,	,		11834	0.1399		0.1958	False		,,,				2504	0.137					dbGAP											0													23.0	17.0	19.0					6																	167594216		664	1499	2163	-	-	-	SO:0001583	missense	0				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.865C>T	6.37:g.167594216C>T	ENSP00000355797:p.Arg289Trp			Missense_Mutation	SNP	NULL	p.R289W	ENST00000366832.2	37	c.865	CCDS47514.1	6	289	0.13232600732600733	57	0.11585365853658537	44	0.12154696132596685	66	0.11538461538461539	122	0.16094986807387862	c	6.019	0.371961	0.11409	.	.	ENSG00000166984	ENST00000366832	T	0.24350	1.86	1.73	0.563	0.17296	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.80722	P	0.0	B	0.31077	0.307	B	0.21546	0.035	T	0.36841	-0.9731	8	0.37606	T	0.19	.	4.5356	0.12026	0.3779:0.6221:0.0:0.0	rs2297459	289	B9ZVM9	TCP2L_HUMAN	W	289	ENSP00000355797:R289W	ENSP00000283507:R289W	R	+	1	2	TCP10L2	167514206	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-0.070000	0.11523	0.950000	0.37743	0.162000	0.16502	CGG	TCP10L2	-	NULL	ENSG00000166984		0.567	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TCP10L2	HGNC	protein_coding	OTTHUMT00000043112.5	17	0.00	0	C	XR_040749		167594216	167594216	+1	no_errors	ENST00000283507	ensembl	human	known	69_37n	missense	39	23.08	12	SNP	0.000	T
TCP10	6953	genome.wustl.edu	37	6	167790110	167790110	+	Missense_Mutation	SNP	C	C	T	rs201005141		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:167790110C>T	ENST00000397829.4	-	5	667	c.500G>A	c.(499-501)cGt>cAt	p.R167H	TCP10_ENST00000366827.2_Missense_Mutation_p.R167H	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	194						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTGTCTTGACGTCTCCCGGG	0.507																																						dbGAP											0													34.0	33.0	33.0					6																	167790110		1384	2863	4247	-	-	-	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.500G>A	6.37:g.167790110C>T	ENSP00000380929:p.Arg167His		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.R167H	ENST00000397829.4	37	c.500	CCDS43527.1	6	259	0.11858974358974358	19	0.03861788617886179	43	0.11878453038674033	77	0.1346153846153846	120	0.158311345646438	C	4.738	0.137311	0.09032	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.46063	2.31;2.31;0.88	2.01	-3.81	0.04294	.	.	.	.	.	T	0.05823	0.0152	N	0.22421	0.69	0.80722	P	0.0	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.33445	-0.9868	8	0.14656	T	0.56	.	0.1293	0.00072	0.3461:0.2399:0.1818:0.2322	.	167;194;194	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	H	167;167;163	ENSP00000355792:R167H;ENSP00000380929:R167H;ENSP00000426065:R163H	ENSP00000355792:R167H	R	-	2	0	TCP10	167710100	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.003000	0.13083	-1.001000	0.03434	-1.021000	0.02439	CGT	TCP10	-	NULL	ENSG00000203690		0.507	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	42	0.00	0	C	NM_004610		167790110	167790110	-1	no_errors	ENST00000397829	ensembl	human	known	69_37n	missense	2	50.00	2	SNP	0.001	T
TGM1	7051	genome.wustl.edu	37	14	24723363	24723363	+	Silent	SNP	G	G	A	rs554951371	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:24723363G>A	ENST00000206765.6	-	14	2343	c.2220C>T	c.(2218-2220)aaC>aaT	p.N740N	TGM1_ENST00000544573.1_Silent_p.N298N	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	740					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)	CTCACCCAACGTTGAGGATCT	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		16574	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													71.0	49.0	56.0					14																	24723363		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.2220C>T	14.37:g.24723363G>A			B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.N740	ENST00000206765.6	37	c.2220	CCDS9622.1	14																																																																																			TGM1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000092295		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	23	0.00	0	G	NM_000359		24723363	24723363	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	silent	8	60.00	12	SNP	0.025	A
THAP7	80764	genome.wustl.edu	37	22	21357119	21357119	+	5'Flank	SNP	G	G	A	rs71314757	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:21357119G>A	ENST00000215742.4	-	0	0				THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_5'Flank|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATTTTAATAGGTAATTAGCTC	0.557													G|||	267	0.0533147	0.0076	0.0274	5008	,	,		15130	0.0159		0.0696	False		,,,				2504	0.1554					dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879		22.37:g.21357119G>A	Exception_encountered		B2RD97|D3DX40	Splice_Site	SNP	-	NULL	ENST00000215742.4	37	c.NULL	CCDS13787.1	22																																																																																			THAP7-AS1	-	-	ENSG00000230513		0.557	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7-AS1	HGNC	protein_coding	OTTHUMT00000320405.1	50	0.00	0	G	NM_030573		21357119	21357119	+1	no_errors	ENST00000429962	ensembl	human	known	69_37n	splice_site	9	62.50	15	SNP	0.003	A
THAP9	79725	genome.wustl.edu	37	4	83839634	83839636	+	In_Frame_Del	DEL	AAG	AAG	-	rs546627933	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:83839634_83839636delAAG	ENST00000302236.5	+	5	2320_2322	c.2269_2271delAAG	c.(2269-2271)aagdel	p.K758del	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	758					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)				ATTTGTTAAAAAGAAGAATGGTT	0.369														3	0.000599042	0.0	0.0	5008	,	,		20808	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0										1,4265		0,1,2132						2.7	1.0			61	0,8248		0,0,4124	no	coding	THAP9	NM_024672.4		0,1,6256	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12513				-	-	-	SO:0001651	inframe_deletion	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.2269_2271delAAG	4.37:g.83839637_83839639delAAG	ENSP00000305533:p.Lys758del		B3KRE2|Q59AC9	In_Frame_Del	DEL	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.K758in_frame_del	ENST00000302236.5	37	c.2269_2271	CCDS3598.1	4																																																																																			THAP9	-	NULL	ENSG00000168152		0.369	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	58	0.00	0	AAG	NM_024672		83839634	83839636	+1	no_errors	ENST00000302236	ensembl	human	known	69_37n	in_frame_del	51	43.33	39	DEL	1.000:0.994:0.947	-
THBS1	7057	genome.wustl.edu	37	15	39880382	39880382	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:39880382G>A	ENST00000260356.5	+	9	1599	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	478	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		AAGGCGAAGCGCGGGAGACCA	0.592																																						dbGAP											0													69.0	64.0	65.0					15																	39880382		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1434G>A	15.37:g.39880382G>A			A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,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.A478	ENST00000260356.5	37	c.1434	CCDS32194.1	15																																																																																			THBS1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000137801		0.592	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	37	0.00	0	G	NM_003246		39880382	39880382	+1	no_errors	ENST00000260356	ensembl	human	known	69_37n	silent	28	58.82	40	SNP	0.032	A
THSD1	55901	genome.wustl.edu	37	13	52952664	52952664	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:52952664C>T	ENST00000258613.4	-	5	1619	c.1441G>A	c.(1441-1443)Ggg>Agg	p.G481R	THSD1_ENST00000349258.4_Missense_Mutation_p.G428R|THSD1_ENST00000544466.1_Missense_Mutation_p.G102R	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	481					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCGTCTCCCCCATCCGAGAAG	0.652																																						dbGAP											0													46.0	52.0	50.0					13																	52952664		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1441G>A	13.37:g.52952664C>T	ENSP00000258613:p.Gly481Arg		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G481R	ENST00000258613.4	37	c.1441	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	c	11.33	1.606944	0.28623	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.34859	2.05;1.34;2.24	6.06	4.35	0.52113	.	0.618079	0.16697	N	0.203309	T	0.42040	0.1185	L	0.48642	1.525	0.09310	N	1	P;P	0.46512	0.879;0.843	P;P	0.51385	0.668;0.572	T	0.24621	-1.0155	10	0.72032	D	0.01	-5.6595	9.2304	0.37432	0.0:0.7837:0.0:0.2163	.	428;481	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	R	428;102;481	ENSP00000340650:G428R;ENSP00000438512:G102R;ENSP00000258613:G481R	ENSP00000258613:G481R	G	-	1	0	THSD1	51850665	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.626000	0.37039	0.907000	0.36646	-0.145000	0.13849	GGG	THSD1	-	NULL	ENSG00000136114		0.652	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	25	0.00	0	C			52952664	52952664	-1	no_errors	ENST00000258613	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.001	T
TIMM23	100287932	genome.wustl.edu	37	10	51620361	51620361	+	Missense_Mutation	SNP	G	G	C	rs148307270	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:51620361G>C	ENST00000260867.4	-	2	251	c.128C>G	c.(127-129)tCt>tGt	p.S43C	TIMM23_ENST00000374065.3_Missense_Mutation_p.S43C|TIMM23_ENST00000374064.3_Missense_Mutation_p.S43C	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	43					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.S43C(1)		endometrium(1)|large_intestine(1)|pancreas(1)	3						TAAATAAGGAGACAGAGGGTT	0.348																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											10.0	12.0	12.0					10																	51620361		2136	4217	6353	-	-	-	SO:0001583	missense	0			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.128C>G	10.37:g.51620361G>C	ENSP00000260867:p.Ser43Cys		Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim23	p.S43C	ENST00000260867.4	37	c.128	CCDS7238.1	10	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841243	0.71488	.	.	ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065	.	.	.	4.12	4.12	0.48240	.	0.117031	0.64402	D	0.000011	T	0.67382	0.2887	M	0.76727	2.345	0.58432	D	0.999995	B;B	0.15473	0.011;0.013	B;B	0.17433	0.018;0.007	T	0.69914	-0.5016	9	0.62326	D	0.03	-0.1752	15.0602	0.71947	0.0:0.0:1.0:0.0	.	43;43	B1APJ0;O14925	.;TIM23_HUMAN	C	43	.	ENSP00000260867:S43C	S	-	2	0	TIMM23	51290367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.507000	0.90522	2.301000	0.77427	0.536000	0.68110	TCT	TIMM23	-	tigrfam_Tim23	ENSG00000138297		0.348	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM23	HGNC	protein_coding	OTTHUMT00000048040.1	21	0.00	0	G	NM_006327.2		51620361	51620361	-1	no_errors	ENST00000260867	ensembl	human	known	69_37n	missense	30	57.14	40	SNP	1.000	C
TJP1	7082	genome.wustl.edu	37	15	30011017	30011017	+	Missense_Mutation	SNP	T	T	C	rs45567033		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr15:30011017T>C	ENST00000346128.6	-	21	3803	c.3329A>G	c.(3328-3330)cAc>cGc	p.H1110R	TJP1_ENST00000545208.2_Missense_Mutation_p.H1030R|TJP1_ENST00000356107.6_Missense_Mutation_p.H1110R|TJP1_ENST00000400011.2_Missense_Mutation_p.H1034R	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1110			H -> R (in dbSNP:rs45567033). {ECO:0000269|Ref.3}.		apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTCTTGAGAGTGCTGATTATC	0.502																																					Melanoma(77;681 1843 6309 6570)	dbGAP											0													213.0	213.0	213.0					15																	30011017		2089	4212	6301	-	-	-	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3329A>G	15.37:g.30011017T>C	ENSP00000281537:p.His1110Arg		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.H1110R	ENST00000346128.6	37	c.3329	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750224	0.30955	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.06608	3.28;3.32	6.06	3.69	0.42338	.	0.146691	0.64402	D	0.000006	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.08055	0.002;0.001;0.001;0.003	T	0.39418	-0.9615	10	0.13108	T	0.6	.	4.286	0.10855	0.1178:0.0685:0.4031:0.4106	rs45567033	1103;1030;1110;1034	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	R	1110;1034;1110;1030;1030	ENSP00000281537:H1110R;ENSP00000382890:H1034R	ENSP00000281537:H1110R	H	-	2	0	TJP1	27798309	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	1.841000	0.39240	0.487000	0.27698	0.533000	0.62120	CAC	TJP1	-	NULL	ENSG00000104067		0.502	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	160	0.00	0	T	NM_003257		30011017	30011017	-1	no_errors	ENST00000346128	ensembl	human	known	69_37n	missense	77	52.69	88	SNP	0.990	C
TLR1	7096	genome.wustl.edu	37	4	38798935	38798935	+	Silent	SNP	C	C	T	rs5743614	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:38798935C>T	ENST00000502213.2	-	3	1747	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	TLR1_ENST00000308979.2_Silent_p.S506S|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	506					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAAATCAGCCGATGGGTGGG	0.418													c|||	2802	0.559505	0.8404	0.4654	5008	,	,		18263	0.5992		0.2744	False		,,,				2504	0.499				GBM(5;216 373 40795 46382)	dbGAP											0													75.0	79.0	78.0					4																	38798935		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1518G>A	4.37:g.38798935C>T			D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	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,prints_IL1_rcpt_1,pfscan_TIR_dom	p.S506	ENST00000502213.2	37	c.1518	CCDS33973.1	4																																																																																			TLR1	-	pirsf_Toll-like_receptor	ENSG00000174125		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	122	0.00	0	C			38798935	38798935	-1	no_errors	ENST00000308979	ensembl	human	known	69_37n	silent	124	50.79	128	SNP	0.002	T
TM7SF3	51768	genome.wustl.edu	37	12	27135726	27135726	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:27135726C>A	ENST00000343028.4	-	7	1160	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	312	Phe-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAATCTGTGTCCAAAGAAACA	0.368																																						dbGAP											0													77.0	79.0	78.0					12																	27135726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.935G>T	12.37:g.27135726C>A	ENSP00000342322:p.Gly312Val		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.G312V	ENST00000343028.4	37	c.935	CCDS8710.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.561087|4.561087	0.86335|0.86335	.|.	.|.	ENSG00000064115|ENSG00000064115	ENST00000545303|ENST00000343028;ENST00000543655;ENST00000535819	.|T;T;T	.|0.63913	.|0.08;-0.07;-0.07	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79557|0.79557	0.4466|0.4466	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	0.81491|0.81491	-0.0909|-0.0909	5|10	.|0.87932	.|D	.|0	-16.6687|-16.6687	19.1563|19.1563	0.93511|0.93511	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|312	.|Q9NS93	.|TM7S3_HUMAN	Y|V	93|312;103;103	.|ENSP00000342322:G312V;ENSP00000441924:G103V;ENSP00000445156:G103V	.|ENSP00000342322:G312V	D|G	-|-	1|2	0|0	TM7SF3|TM7SF3	27026993|27026993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.525000|6.525000	0.73795|0.73795	2.601000|2.601000	0.87937|0.87937	0.591000|0.591000	0.81541|0.81541	GAC|GGA	TM7SF3	-	NULL	ENSG00000064115		0.368	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	151	0.00	0	C	NM_016551		27135726	27135726	-1	no_errors	ENST00000343028	ensembl	human	known	69_37n	missense	111	54.88	135	SNP	1.000	A
TMC4	147798	genome.wustl.edu	37	19	54675769	54675771	+	In_Frame_Del	DEL	CCC	CCC	-	rs140898828	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	CCC	CCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:54675769_54675771delCCC	ENST00000376591.4	-	2	310_312	c.179_181delGGG	c.(178-183)ggggcg>gcg	p.G60del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.G54del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	60					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A55T(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTCCAGCGCCCCCCAAGGCAG	0.655														114	0.0227636	0.0038	0.0187	5008	,	,		15353	0.0873		0.006	False		,,,				2504	0.002					dbGAP											1	Substitution - Missense(1)	breast(1)							,	75,4189		31,13,2088					,	-0.8	0.0		dbSNP_131	72	153,8101		72,9,4046	no	coding,coding	TMC4	NM_144686.2,NM_001145303.1	,	103,22,6134	A1A1,A1R,RR		1.8536,1.7589,1.8214	,	,		228,12290				-	-	-	SO:0001651	inframe_deletion	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.179_181delGGG	19.37:g.54675772_54675774delCCC	ENSP00000365776:p.Gly60del		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	pfam_TMC	p.G54in_frame_del	ENST00000376591.4	37	c.163_161	CCDS46174.1	19																																																																																			TMC4	-	NULL	ENSG00000167608		0.655	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	35	0.00	0	CCC			54675769	54675771	-1	no_errors	ENST00000301187	ensembl	human	known	69_37n	in_frame_del	8	52.38	11	DEL	0.013:0.118:0.960	-
TMEM132E	124842	genome.wustl.edu	37	17	32963145	32963145	+	Silent	SNP	G	G	T	rs558619000		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:32963145G>T	ENST00000321639.5	+	9	2155	c.1827G>T	c.(1825-1827)cgG>cgT	p.R609R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	609						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTCCCTGCGGCCCAGCCCTG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17365	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													50.0	37.0	42.0					17																	32963145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1827G>T	17.37:g.32963145G>T			Q8WUF4|Q8WVA5	Silent	SNP	NULL	p.R609	ENST00000321639.5	37	c.1827	CCDS11283.1	17																																																																																			TMEM132E	-	NULL	ENSG00000181291		0.647	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	15	0.00	0	G	NM_207313		32963145	32963145	+1	no_errors	ENST00000321639	ensembl	human	known	69_37n	silent	5	64.29	9	SNP	1.000	T
TMEM235	283999	genome.wustl.edu	37	17	76230729	76230729	+	Silent	SNP	T	T	C	rs11077350	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:76230729T>C	ENST00000551068.3	+	3	448	c.327T>C	c.(325-327)tgT>tgC	p.C109C	TMEM235_ENST00000550981.3_Silent_p.C82C|TMEM235_ENST00000421688.1_Intron|TMEM235_ENST00000374946.3_Silent_p.C82C|TMEM235_ENST00000586400.1_Intron			A6NFC5	TM235_HUMAN	transmembrane protein 235	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			lung(1)	1						TTCTCGTGTGTGGCTGGATCT	0.637													C|||	1807	0.360823	0.3865	0.3112	5008	,	,		16977	0.2639		0.4742	False		,,,				2504	0.3446					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	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.327T>C	17.37:g.76230729T>C			C9JRE6	Missense_Mutation	SNP	prints_Claudin	p.W141R	ENST00000551068.3	37	c.421	CCDS56046.1	17	826	0.3782051282051282	192	0.3902439024390244	116	0.32044198895027626	152	0.26573426573426573	366	0.48284960422163586	C	0.366	-0.936474	0.02340	.	.	ENSG00000204278	ENST00000547406	.	.	.	2.41	-4.82	0.03171	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999844897	.	.	.	.	.	.	T	0.33701	-0.9858	3	.	.	.	.	7.9454	0.29982	0.1323:0.1686:0.0:0.6991	rs11077350;rs56428038;rs57976662;rs11077350	.	.	.	R	141	.	.	W	+	1	0	TMEM235	73742324	0.020000	0.18652	0.065000	0.19835	0.080000	0.17528	-2.056000	0.01396	-2.080000	0.00870	-1.642000	0.00770	TGG	TMEM235	-	prints_Claudin	ENSG00000204278		0.637	TMEM235-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM235	HGNC	protein_coding	OTTHUMT00000408606.1	13	0.00	0	T	NM_001204211		76230729	76230729	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591033	ensembl	human	novel	69_37n	missense	4	73.33	11	SNP	0.382	C
TNFSF15	9966	genome.wustl.edu	37	9	117553249	117553249	+	Intron	SNP	T	T	C	rs4246905	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:117553249T>C	ENST00000374045.4	-	4	415				AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.H3R	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GCTTAAAAAGTGTCTCATATC	0.348													G|||	3940	0.786741	0.9576	0.7882	5008	,	,		21285	0.6528		0.7028	False		,,,				2504	0.7791					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.302-63A>G	9.37:g.117553249T>C			Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c	p.H3R	ENST00000374045.4	37	c.8	CCDS6809.1	9	1664	0.7619047619047619	467	0.9491869918699187	282	0.7790055248618785	373	0.6520979020979021	542	0.7150395778364116	G	15.83	2.950338	0.53186	.	.	ENSG00000181634	ENST00000374044	T	0.35421	1.31	3.99	-4.15	0.03881	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.18681	-1.0329	4	.	.	.	.	2.2027	0.03928	0.1576:0.122:0.1781:0.5423	rs4246905;rs17816729;rs60721587;rs4246905	.	.	.	R	3	ENSP00000363156:H3R	.	H	-	2	0	TNFSF15	116593070	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.803000	0.04540	-1.251000	0.02494	-1.078000	0.02229	CAC	TNFSF15	-	NULL	ENSG00000181634		0.348	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2	16	0.00	0	T	NM_005118		117553249	117553249	-1	no_errors	ENST00000374044	ensembl	human	known	69_37n	missense	1	97.87	46	SNP	0.000	C
TOPBP1	11073	genome.wustl.edu	37	3	133342223	133342223	+	Missense_Mutation	SNP	C	C	T	rs79533362	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:133342223C>T	ENST00000260810.5	-	18	3138	c.3007G>A	c.(3007-3009)Gca>Aca	p.A1003T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1003					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						TCTTGCACTGCGCTGATATCC	0.433								Other conserved DNA damage response genes					C|||	32	0.00638978	0.0	0.0	5008	,	,		16899	0.0288		0.0	False		,,,				2504	0.0031				Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													76.0	72.0	73.0					3																	133342223		1955	4156	6111	-	-	-	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.3007G>A	3.37:g.133342223C>T	ENSP00000260810:p.Ala1003Thr		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.A1003T	ENST00000260810.5	37	c.3007	CCDS46919.1	3	21	0.009615384615384616	0	0.0	0	0.0	21	0.03671328671328671	0	0.0	C	11.85	1.761214	0.31137	.	.	ENSG00000163781	ENST00000260810	T	0.38722	1.12	5.55	1.61	0.23674	BRCT (1);	0.362137	0.33057	N	0.005328	T	0.05777	0.0151	L	0.27053	0.805	0.21878	N	0.999498	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.18429	-1.0337	10	0.07813	T	0.8	.	9.2862	0.37758	0.0:0.6988:0.0:0.3012	.	916;1003	A0AV47;Q92547	.;TOPB1_HUMAN	T	1003	ENSP00000260810:A1003T	ENSP00000260810:A1003T	A	-	1	0	TOPBP1	134824913	1.000000	0.71417	0.871000	0.34182	0.822000	0.46500	1.624000	0.37018	0.007000	0.14760	0.563000	0.77884	GCA	TOPBP1	-	superfamily_BRCT_dom	ENSG00000163781		0.433	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	40	0.00	0	C	NM_007027		133342223	133342223	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	74	54.04	87	SNP	0.997	T
TNIK	23043	genome.wustl.edu	37	3	170802953	170802953	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:170802953C>T	ENST00000436636.2	-	25	3296	c.2952G>A	c.(2950-2952)acG>acA	p.T984T	TNIK_ENST00000538048.1_Silent_p.T936T|TNIK_ENST00000284483.8_Silent_p.T976T|TNIK_ENST00000470834.1_Silent_p.T947T|TNIK_ENST00000357327.5_Silent_p.T955T|TNIK_ENST00000488470.1_Silent_p.T929T|TNIK_ENST00000369326.5_Silent_p.T962T|TNIK_ENST00000475336.1_Silent_p.T892T|TNIK_ENST00000341852.6_Silent_p.T900T|TNIK_ENST00000460047.1_Silent_p.T921T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	984	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CAGTGGGAGACGTCTGGTATA	0.473																																						dbGAP											0													57.0	59.0	58.0					3																	170802953		1910	4122	6032	-	-	-	SO:0001819	synonymous_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2952G>A	3.37:g.170802953C>T			A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	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.T984	ENST00000436636.2	37	c.2952	CCDS46956.1	3																																																																																			TNIK	-	NULL	ENSG00000154310		0.473	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	29	0.00	0	C	XM_039796		170802953	170802953	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	silent	54	40.66	37	SNP	0.005	T
TPM2	7169	genome.wustl.edu	37	9	35684813	35684813	+	Intron	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:35684813G>A	ENST00000360958.2	-	6	668				TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378292.3_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TACTGCAGGGGGTGTGTGGCG	0.587																																						dbGAP											0													33.0	33.0	33.0					9																	35684813		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.564-9C>T	9.37:g.35684813G>A			A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	RNA	SNP	-	NULL	ENST00000360958.2	37	NULL	CCDS6587.1	9																																																																																			TPM2	-	-	ENSG00000198467		0.587	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	24	0.00	0	G	NM_003289		35684813	35684813	-1	no_errors	ENST00000471212	ensembl	human	known	69_37n	rna	15	48.28	14	SNP	0.997	A
TRGJP2	6972	genome.wustl.edu	37	7	38292991	38292991	+	RNA	SNP	A	A	C	rs199756530	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:38292991A>C	ENST00000390334.1	-	0	60				TRGJ2_ENST00000390333.1_RNA					T cell receptor gamma joining P2																		CTGTGACAACAAGTGTTGTTC	0.338													A|||	14	0.00279553	0.0106	0.0	5008	,	,		14500	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													33.0	41.0	39.0					7																	38292991		1781	4049	5830	-	-	-			0			M16016		7p14	2012-02-07			ENSG00000211688	ENSG00000211688		"""T cell receptors / TRG locus"""	12281	other	T cell receptor gene	"""T-cell receptor, gamma, joining segment JP2"""			TCRGJP2		2951442	Standard	NG_001336		Approved	JP2			OTTHUMG00000155222		7.37:g.38292991A>C				Missense_Mutation	SNP	NULL	p.C14G	ENST00000390334.1	37	c.40		7																																																																																			TRGJ2	-	NULL	ENSG00000211687		0.338	TRGJP2-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TRGJ2	HGNC	TR_J_gene	OTTHUMT00000338828.2	52	0.00	0	A	NG_001336		38292991	38292991	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390333	ensembl	human	known	69_37n	missense	233	60.61	360	SNP	0.005	C
TRGV5	6978	genome.wustl.edu	37	7	38389410	38389410	+	RNA	SNP	G	G	C	rs140194030	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:38389410G>C	ENST00000390344.2	-	0	213									T cell receptor gamma variable 5																		AGAAGCACCAGTAGGGCCCAC	0.532													C|||	1069	0.213458	0.1868	0.2579	5008	,	,		16402	0.246		0.2316	False		,,,				2504	0.1656					dbGAP											0													54.0	56.0	55.0					7																	38389410		1887	4111	5998	-	-	-			0			M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389410G>C				Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.L6V	ENST00000390344.2	37	c.16		7																																																																																			TRGV5	-	NULL	ENSG00000211697		0.532	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRGV5	HGNC	TR_V_gene	OTTHUMT00000338407.4	63	0.00	0	G	NG_001336		38389410	38389410	-1	no_stop_codon	ENST00000390344	ensembl	human	known	69_37n	missense	93	24.39	30	SNP	0.000	C
TRIM49B	283116	genome.wustl.edu	37	11	49053349	49053349	+	Silent	SNP	C	C	T	rs143516229	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:49053349C>T	ENST00000332682.7	+	2	226	c.198C>T	c.(196-198)acC>acT	p.T66T		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	66						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						ACCTCAAAACCAACATTCATT	0.458													.|||	5	0.000998403	0.003	0.0	5008	,	,		20440	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.198C>T	11.37:g.49053349C>T				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,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.T66	ENST00000332682.7	37	c.198	CCDS55762.1	11																																																																																			TRIM49B	-	NULL	ENSG00000182053		0.458	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		77	0.00	0	C			49053349	49053349	+1	no_errors	ENST00000332682	ensembl	human	known	69_37n	silent	74	40.48	51	SNP	0.438	T
TRIM49B	283116	genome.wustl.edu	37	11	49059174	49059174	+	Missense_Mutation	SNP	C	C	T	rs186348742	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:49059174C>T	ENST00000332682.7	+	7	1032	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	335	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						GGTGCTCAGACTTTCACCTCG	0.423													.|||	5	0.000998403	0.003	0.0	5008	,	,		18386	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.1004C>T	11.37:g.49059174C>T	ENSP00000330216:p.Thr335Ile			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,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.T335I	ENST00000332682.7	37	c.1004	CCDS55762.1	11	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	C	4.897	0.166655	0.09339	.	.	ENSG00000182053	ENST00000332682	T	0.04917	3.53	0.689	-0.444	0.12245	.	.	.	.	.	T	0.05044	0.0135	L	0.55990	1.75	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	6	0.21014	T	0.42	.	.	.	.	.	.	.	.	I	335	ENSP00000330216:T335I	ENSP00000330216:T335I	T	+	2	0	AC084851.1	49015750	0.031000	0.19500	0.003000	0.11579	0.056000	0.15407	-0.029000	0.12329	-0.190000	0.10465	0.184000	0.17185	ACT	TRIM49B	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000182053		0.423	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		74	0.00	0	C			49059174	49059174	+1	no_errors	ENST00000332682	ensembl	human	known	69_37n	missense	35	36.36	20	SNP	0.178	T
TRIM51HP	440041	genome.wustl.edu	37	11	55065479	55065479	+	RNA	SNP	T	T	C	rs1821465	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:55065479T>C	ENST00000526016.1	-	0	229					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ATATTTGCTCTTCAGAGCTAA	0.473													t|||	50	0.00998403	0.0371	0.0014	5008	,	,		21411	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065479T>C				RNA	SNP	-	NULL	ENST00000526016.1	37	NULL		11																																																																																			TRIM51HP	-	-	ENSG00000166007		0.473	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	TRIM51HP	HGNC	pseudogene	OTTHUMT00000391438.1	24	0.00	0	T			55065479	55065479	-1	no_errors	ENST00000526016	ensembl	human	putative	69_37n	rna	10	44.44	8	SNP	0.461	C
TRIM56	81844	genome.wustl.edu	37	7	100732537	100732537	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:100732537C>T	ENST00000306085.6	+	3	2241	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	648					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F648F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGGGCATTTCGTGGGGTCGG	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											100.0	108.0	106.0					7																	100732537		1894	4099	5993	-	-	-	SO:0001819	synonymous_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1944C>T	7.37:g.100732537C>T			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.F648	ENST00000306085.6	37	c.1944	CCDS43625.1	7																																																																																			TRIM56	-	NULL	ENSG00000169871		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	175	0.00	0	C	NM_030961		100732537	100732537	+1	no_errors	ENST00000306085	ensembl	human	known	69_37n	silent	31	55.71	39	SNP	0.018	T
Unknown	0	genome.wustl.edu	37	11	89515632	89515632	+	IGR	SNP	G	G	A	rs371961672	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:89515632G>A								RP11-313I2.11 (27511 upstream) : TRIM49 (15190 downstream)																							GCCTGTGAGCGCACTGTAACT	0.313													g|||	270	0.0539137	0.0371	0.0231	5008	,	,		23544	0.0843		0.0328	False		,,,				2504	0.089					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															11.37:g.89515632G>A				RNA	SNP	-	NULL		37	NULL		11																																																																																			TRIM64DP	-	-	ENSG00000254751	0	0.313					TRIM64DP	HGNC			32	0.00	0	G			89515632	89515632	+1	no_errors	ENST00000532821	ensembl	human	known	69_37n	rna	21	36.36	12	SNP	0.019	A
TRIM64B	642446	genome.wustl.edu	37	11	89604264	89604264	+	Missense_Mutation	SNP	G	G	A	rs200143665	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:89604264G>A	ENST00000329862.6	-	6	874	c.875C>T	c.(874-876)aCg>aTg	p.T292M		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	292	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						AATCATTTCCGTGCTCAGAGC	0.433																																						dbGAP											0													3.0	2.0	2.0					11																	89604264		589	1282	1871	-	-	-	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.875C>T	11.37:g.89604264G>A	ENSP00000332969:p.Thr292Met			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,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.T292M	ENST00000329862.6	37	c.875	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	1.191	-0.635379	0.03584	.	.	ENSG00000189253	ENST00000329862	T	0.61158	0.13	2.04	-2.63	0.06133	.	.	.	.	.	T	0.47746	0.1462	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.46582	-0.9181	6	.	.	.	.	0.1266	0.00069	0.2384:0.1771:0.2525:0.332	.	.	.	.	M	292	ENSP00000332969:T292M	.	T	-	2	0	TRIM64B	89243912	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.096000	0.15147	-0.409000	0.07553	-0.853000	0.03031	ACG	TRIM64B	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000189253		0.433	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	58	0.00	0	G			89604264	89604264	-1	no_errors	ENST00000329862	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.000	A
TRIP10	9322	genome.wustl.edu	37	19	6750386	6750386	+	Silent	SNP	C	C	A	rs75725110	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:6750386C>A	ENST00000313244.9	+	13	1514	c.1479C>A	c.(1477-1479)ccC>ccA	p.P493P	TRIP10_ENST00000600428.1_Silent_p.P329P|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.P437P|TRIP10_ENST00000313285.8_Silent_p.P437P			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	493	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCGACCCCCCCGCTAGCGCCC	0.672																																						dbGAP											0													40.0	50.0	46.0					19																	6750386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1479C>A	19.37:g.6750386C>A			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.P493	ENST00000313244.9	37	c.1479		19																																																																																			TRIP10	-	NULL	ENSG00000125733		0.672	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	82	0.00	0	C			6750386	6750386	+1	no_errors	ENST00000313244	ensembl	human	known	69_37n	silent	8	61.90	13	SNP	0.001	A
TSC1	7248	genome.wustl.edu	37	9	135781265	135781265	+	Missense_Mutation	SNP	G	G	A	rs118203557|rs397514880|rs397514818		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:135781265G>A	ENST00000298552.3	-	15	1921	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	TSC1_ENST00000440111.2_Missense_Mutation_p.A567V|TSC1_ENST00000545250.1_Missense_Mutation_p.A516V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	567			A -> V (in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:22161988}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTGTCTCCCGCAGGGCTTTC	0.557			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19269	0.001		0.0	False		,,,				2504	0.0					dbGAP	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											65.0	71.0	69.0					9																	135781265		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1700C>T	9.37:g.135781265G>A	ENSP00000298552:p.Ala567Val		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.A567V	ENST00000298552.3	37	c.1700	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816991	0.32145	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.87887	-2.31;-2.31;-2.31	5.94	3.95	0.45737	.	0.398380	0.29631	N	0.011617	D	0.83492	0.5266	M	0.63428	1.95	0.80722	D	1	B;B	0.17667	0.011;0.023	B;B	0.13407	0.006;0.009	T	0.76509	-0.2933	10	0.30854	T	0.27	-6.0583	10.1922	0.43032	0.1637:0.0:0.8363:0.0	.	516;567	B7Z897;Q92574	.;TSC1_HUMAN	V	567;567;516	ENSP00000298552:A567V;ENSP00000394524:A567V;ENSP00000444017:A516V	ENSP00000298552:A567V	A	-	2	0	TSC1	134771086	0.996000	0.38824	0.653000	0.29593	0.619000	0.37552	2.454000	0.44979	0.735000	0.32537	0.650000	0.86243	GCG	TSC1	-	pfam_Hamartin	ENSG00000165699		0.557	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	42	0.00	0	G			135781265	135781265	-1	no_errors	ENST00000298552	ensembl	human	known	69_37n	missense	26	59.38	38	SNP	0.719	A
TSPAN14	81619	genome.wustl.edu	37	10	82271903	82271903	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:82271903C>G	ENST00000429989.3	+	6	677	c.454C>G	c.(454-456)Cag>Gag	p.Q152E	TSPAN14_ENST00000481124.1_Missense_Mutation_p.Q29E|TSPAN14_ENST00000372158.1_Missense_Mutation_p.Q152E|TSPAN14_ENST00000341863.6_Missense_Mutation_p.Q95E|TSPAN14_ENST00000372164.3_Missense_Mutation_p.Q135E|TSPAN14_ENST00000372156.1_Missense_Mutation_p.Q152E	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	152					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)			GTTGCAGAACCAGTGCTGTGG	0.567																																						dbGAP											0													102.0	93.0	96.0					10																	82271903		2203	4300	6503	-	-	-	SO:0001583	missense	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.454C>G	10.37:g.82271903C>G	ENSP00000396270:p.Gln152Glu		A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q152E	ENST00000429989.3	37	c.454	CCDS7369.1	10	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138045	0.56936	.	.	ENSG00000108219	ENST00000429989;ENST00000481124;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.13	5.13	0.70059	Tetraspanin, EC2 domain (1);	0.272369	0.42821	D	0.000659	T	0.65585	0.2705	L	0.29908	0.895	0.53688	D	0.999979	B;B;B	0.14012	0.009;0.001;0.0	B;B;B	0.23419	0.046;0.008;0.001	T	0.59984	-0.7351	10	0.02654	T	1	-14.1849	16.0865	0.81056	0.0:1.0:0.0:0.0	.	29;152;135	B4DHY6;Q8NG11;Q8NG11-2	.;TSN14_HUMAN;.	E	152;29;122;135;152;95;152	ENSP00000396270:Q152E;ENSP00000418195:Q29E;ENSP00000361230:Q122E;ENSP00000361237:Q135E;ENSP00000361231:Q152E;ENSP00000344076:Q95E;ENSP00000361229:Q152E	ENSP00000344076:Q95E	Q	+	1	0	TSPAN14	82261883	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.106000	0.50322	2.388000	0.81334	0.563000	0.77884	CAG	TSPAN14	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000108219		0.567	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	17	0.00	0	C	NM_030927		82271903	82271903	+1	no_errors	ENST00000372156	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	1.000	G
TTLL9	164395	genome.wustl.edu	37	20	30513735	30513735	+	Intron	SNP	C	C	T	rs4911195	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:30513735C>T	ENST00000375938.4	+	10	958				TTLL9_ENST00000375922.4_Silent_p.R182R|TTLL9_ENST00000375934.4_Intron|TTLL9_ENST00000375921.2_Silent_p.R182R|TTLL9_ENST00000310998.4_Silent_p.R205R|TTLL9_ENST00000535842.1_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9						cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.R200R(1)		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)			CCAACACCCGCTTCACACTGA	0.577													C|||	878	0.175319	0.0061	0.2291	5008	,	,		19555	0.2996		0.1501	False		,,,				2504	0.2638					dbGAP											1	Substitution - coding silent(1)	stomach(1)																																								-	-	-	SO:0001627	intron_variant	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.706-117C>T	20.37:g.30513735C>T			A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	pfam_Tub_tyr_ligase	p.R182	ENST00000375938.4	37	c.546	CCDS42863.1	20																																																																																			TTLL9	-	pfam_Tub_tyr_ligase	ENSG00000131044		0.577	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		34	0.00	0	C	NM_001008409		30513735	30513735	+1	no_errors	ENST00000375922	ensembl	human	known	69_37n	silent	21	52.27	23	SNP	0.957	T
TUBA3E	112714	genome.wustl.edu	37	2	130951837	130951837	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:130951837G>A	ENST00000312988.7	-	4	678	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	193					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTCCAGGGTCGTGTGGGTGGT	0.532																																						dbGAP											0													108.0	109.0	109.0					2																	130951837		2195	4272	6467	-	-	-	SO:0001583	missense	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.578C>T	2.37:g.130951837G>A	ENSP00000318197:p.Thr193Met			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	p.T193M	ENST00000312988.7	37	c.578	CCDS2158.1	2	.	.	.	.	.	.	.	.	.	.	g	10.77	1.443028	0.25987	.	.	ENSG00000152086	ENST00000312988	T	0.70282	-0.47	2.71	0.826	0.18829	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000094	T	0.78929	0.4361	M	0.76938	2.355	0.40754	D	0.982946	D	0.63880	0.993	D	0.66084	0.941	T	0.76575	-0.2909	10	0.72032	D	0.01	.	6.6872	0.23152	0.2604:0.0:0.7396:0.0	.	193	Q6PEY2	TBA3E_HUMAN	M	193	ENSP00000318197:T193M	ENSP00000318197:T193M	T	-	2	0	TUBA3E	130668307	1.000000	0.71417	0.876000	0.34364	0.896000	0.52359	3.682000	0.54656	0.070000	0.16634	-0.384000	0.06662	ACG	TUBA3E	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	ENSG00000152086		0.532	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	167	0.60	1	G	NM_207312		130951837	130951837	-1	no_errors	ENST00000312988	ensembl	human	known	69_37n	missense	18	83.18	89	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179664220	179664220	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:179664220G>A	ENST00000591111.1	-	6	1132	c.908C>T	c.(907-909)cCg>cTg	p.P303L	TTN_ENST00000342992.6_Missense_Mutation_p.P303L|TTN_ENST00000360870.5_Missense_Mutation_p.P303L|TTN_ENST00000342175.6_Missense_Mutation_p.P303L|TTN_ENST00000589042.1_Missense_Mutation_p.P303L|TTN_ENST00000359218.5_Missense_Mutation_p.P303L|TTN_ENST00000460472.2_Missense_Mutation_p.P303L			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				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)			TTACCTGACCGGAGATGGGGT	0.557																																						dbGAP											0													52.0	55.0	54.0					2																	179664220		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.908C>T	2.37:g.179664220G>A	ENSP00000465570:p.Pro303Leu		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.P303L	ENST00000591111.1	37	c.908		2	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641373	0.67244	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68181	-0.31;-0.02;-0.06;-0.07;0.06	5.64	5.64	0.86602	.	.	.	.	.	T	0.80778	0.4688	L	0.56769	1.78	0.58432	D	0.999998	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;0.998;0.998;1.0	T	0.81618	-0.0851	9	0.87932	D	0	.	19.7063	0.96072	0.0:0.0:1.0:0.0	.	303;303;303;303;303	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	303	ENSP00000343764:P303L;ENSP00000434586:P303L;ENSP00000340554:P303L;ENSP00000352154:P303L;ENSP00000354117:P303L	ENSP00000340554:P303L	P	-	2	0	TTN	179372465	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	9.718000	0.98758	2.662000	0.90505	0.561000	0.74099	CCG	TTN	-	NULL	ENSG00000155657		0.557	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	46	0.00	0	G	NM_133378		179664220	179664220	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	15	63.41	26	SNP	1.000	A
TUBA4B	80086	genome.wustl.edu	37	2	220134923	220134923	+	RNA	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:220134923G>A	ENST00000490341.1	+	0	223					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										ACTTTGAACAGGCACATACCG	0.567																																						dbGAP											0																																										-	-	-			0			AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220134923G>A				Splice_Site	SNP	-	NULL	ENST00000490341.1	37	c.NULL		2																																																																																			TUBA4B	-	-	ENSG00000243910		0.567	TUBA4B-001	KNOWN	basic	processed_transcript	TUBA4B	HGNC	pseudogene	OTTHUMT00000335637.1	28	0.00	0	G	NR_003063		220134923	220134923	+1	no_errors	ENST00000490341	ensembl	human	known	69_37n	splice_site	5	53.85	7	SNP	1.000	A
TUBA4B	80086	genome.wustl.edu	37	2	220136059	220136059	+	RNA	SNP	C	C	A	rs7580926	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:220136059C>A	ENST00000490341.1	+	0	529					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										AGCCATGGTCCAGCCCTACAA	0.522													A|||	425	0.0848642	0.2262	0.0245	5008	,	,		19191	0.0833		0.0179	False		,,,				2504	0.0072					dbGAP											0																																										-	-	-			0			AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136059C>A				RNA	SNP	-	NULL	ENST00000490341.1	37	NULL		2																																																																																			TUBA4B	-	-	ENSG00000243910		0.522	TUBA4B-001	KNOWN	basic	processed_transcript	TUBA4B	HGNC	pseudogene	OTTHUMT00000335637.1	181	0.00	0	C	NR_003063		220136059	220136059	+1	no_errors	ENST00000490341	ensembl	human	known	69_37n	rna	27	44.90	22	SNP	1.000	A
TUBA4B	80086	genome.wustl.edu	37	2	220136239	220136239	+	RNA	SNP	C	C	T	rs77762019	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:220136239C>T	ENST00000490341.1	+	0	709					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										AGCTTCTCTGCGCTTTGACGG	0.547													C|||	243	0.0485224	0.0968	0.0115	5008	,	,		21960	0.0833		0.0159	False		,,,				2504	0.0072					dbGAP											0																																										-	-	-			0			AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136239C>T				RNA	SNP	-	NULL	ENST00000490341.1	37	NULL		2																																																																																			TUBA4B	-	-	ENSG00000243910		0.547	TUBA4B-001	KNOWN	basic	processed_transcript	TUBA4B	HGNC	pseudogene	OTTHUMT00000335637.1	187	0.00	0	C	NR_003063		220136239	220136239	+1	no_errors	ENST00000473885	ensembl	human	known	69_37n	rna	47	36.49	27	SNP	1.000	T
TUBA4B	80086	genome.wustl.edu	37	2	220136360	220136360	+	RNA	SNP	C	C	T	rs56105486	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:220136360C>T	ENST00000490341.1	+	0	830					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										AGGTATACCACGAGCAGCTGT	0.562													C|||	245	0.0489217	0.0968	0.0115	5008	,	,		21014	0.0833		0.0159	False		,,,				2504	0.0092					dbGAP											0																																										-	-	-			0			AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136360C>T				RNA	SNP	-	NULL	ENST00000490341.1	37	NULL		2																																																																																			TUBA4B	-	-	ENSG00000243910		0.562	TUBA4B-001	KNOWN	basic	processed_transcript	TUBA4B	HGNC	pseudogene	OTTHUMT00000335637.1	166	0.00	0	C	NR_003063		220136360	220136360	+1	no_errors	ENST00000473885	ensembl	human	known	69_37n	rna	22	55.10	27	SNP	0.984	T
TUBB8	347688	genome.wustl.edu	37	10	93930	93930	+	Missense_Mutation	SNP	C	C	G	rs9329306		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:93930C>G	ENST00000309812.4	-	4	464	c.402G>C	c.(400-402)caG>caC	p.Q134H	TUBB8_ENST00000447903.2_Missense_Mutation_p.Q62H|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	134					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGTGGGTCAGCTGGAAACCCT	0.582																																					Pancreas(192;2041 3010 9013 18103)	dbGAP											0													35.0	35.0	35.0					10																	93930		2172	4250	6422	-	-	-	SO:0001583	missense	0			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.402G>C	10.37:g.93930C>G	ENSP00000311042:p.Gln134His		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.Q134H	ENST00000309812.4	37	c.402	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707819	0.30322	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71103	-0.54	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000014	D	0.86033	0.5836	H	0.96691	3.865	0.32699	N	0.513108	D;D	0.89917	0.991;1.0	D;D	0.85130	0.986;0.997	D	0.84536	0.0636	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	rs9329306	97;134	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	H	62;100;97;134	ENSP00000403895:Q62H	ENSP00000272035:Q100H	Q	-	3	2	RP11-631M21.2	83930	1.000000	0.71417	0.537000	0.28052	0.542000	0.35054	3.663000	0.54518	0.119000	0.18210	0.121000	0.15741	CAG	TUBB8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000173876		0.582	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	HGNC	protein_coding	OTTHUMT00000467795.1	58	0.00	0	C	NM_177987		93930	93930	-1	no_errors	ENST00000328974	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	G
TUBB8	347688	genome.wustl.edu	37	10	94066	94066	+	Intron	SNP	C	C	T	rs199721823	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:94066C>T	ENST00000309812.4	-	4	340				TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000332708.5_Intron|TUBB8_ENST00000413237.3_Intron	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII						microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGTAAGACAGCACAGCCGGTC	0.577																																					Pancreas(192;2041 3010 9013 18103)	dbGAP											0													27.0	24.0	25.0					10																	94066		2203	4297	6500	-	-	-	SO:0001627	intron_variant	0			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.278-12G>A	10.37:g.94066C>T			Q5SQX9|Q8WZ78	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Beta_tubulin	p.A97T	ENST00000309812.4	37	c.289	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	T	8.623	0.891753	0.17613	.	.	ENSG00000173876	ENST00000309812	T	0.73897	-0.79	.	.	.	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.56165	-0.8024	4	0.87932	D	0	.	.	.	.	.	.	.	.	T	97	ENSP00000311042:A97T	ENSP00000311042:A97T	A	-	1	0	RP11-631M21.2	84066	0.002000	0.14202	0.100000	0.21137	0.100000	0.18952	-0.042000	0.12063	-1.942000	0.01040	-1.950000	0.00486	GCT	TUBB8	-	superfamily_Tubulin_FtsZ_GTPase,prints_Beta_tubulin	ENSG00000173876		0.577	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	HGNC	protein_coding	OTTHUMT00000467795.1	46	0.00	0	C	NM_177987		94066	94066	-1	no_errors	ENST00000309812	ensembl	human	putative	69_37n	missense	17	51.43	18	SNP	0.001	T
TUBBP5	643224	genome.wustl.edu	37	9	141070220	141070220	+	RNA	SNP	A	A	G	rs11137402	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:141070220A>G	ENST00000503395.1	+	0	1300									tubulin, beta pseudogene 5																		CTCAAAATCCAGGAACGCTCC	0.622													.|||	159	0.0317492	0.1097	0.0101	5008	,	,		15734	0.0		0.001	False		,,,				2504	0.0061					dbGAP											0																																										-	-	-			0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070220A>G				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-	ENSG00000159247		0.622	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	10	0.00	0	A	NR_027156		141070220	141070220	+1	no_errors	ENST00000503395	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.515	G
TULP4	56995	genome.wustl.edu	37	6	158924696	158924696	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:158924696G>C	ENST00000367097.3	+	13	5358	c.4001G>C	c.(4000-4002)gGa>gCa	p.G1334A	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1334					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAAAAATTTGGAAAGAAGAAC	0.552																																						dbGAP											0													43.0	47.0	45.0					6																	158924696		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4001G>C	6.37:g.158924696G>C	ENSP00000356064:p.Gly1334Ala		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1334A	ENST00000367097.3	37	c.4001	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168296	0.38315	.	.	ENSG00000130338	ENST00000367097	T	0.61742	0.08	5.7	5.7	0.88788	.	0.109407	0.64402	D	0.000004	T	0.32376	0.0827	L	0.31926	0.97	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.09907	-1.0653	10	0.25106	T	0.35	-18.1924	15.3314	0.74215	0.0:0.1392:0.8608:0.0	.	1334	Q9NRJ4	TULP4_HUMAN	A	1334	ENSP00000356064:G1334A	ENSP00000356064:G1334A	G	+	2	0	TULP4	158844684	1.000000	0.71417	0.158000	0.22627	0.998000	0.95712	7.310000	0.78947	2.696000	0.92011	0.561000	0.74099	GGA	TULP4	-	NULL	ENSG00000130338		0.552	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	32	0.00	0	G	NM_020245		158924696	158924696	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.236	C
TXNDC16	57544	genome.wustl.edu	37	14	52955155	52955155	+	Missense_Mutation	SNP	G	G	A	rs199524742		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr14:52955155G>A	ENST00000281741.4	-	12	1405	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	345					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)					TTCCACATGAGATATTATTAA	0.299																																						dbGAP											0													122.0	106.0	112.0					14																	52955155		2203	4300	6503	-	-	-	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.1034C>T	14.37:g.52955155G>A	ENSP00000281741:p.Ser345Phe		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.S345F	ENST00000281741.4	37	c.1034	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658319	0.29425	.	.	ENSG00000087301	ENST00000281741	T	0.19669	2.13	5.49	4.61	0.57282	Thioredoxin-like fold (1);	0.459834	0.24623	N	0.036950	T	0.16257	0.0391	L	0.33485	1.01	0.31943	N	0.610722	B;B	0.12630	0.006;0.004	B;B	0.08055	0.003;0.003	T	0.07309	-1.0779	10	0.42905	T	0.14	-12.5172	10.3033	0.43665	0.0913:0.0:0.9087:0.0	.	340;345	B7ZME4;Q9P2K2	.;TXD16_HUMAN	F	345	ENSP00000281741:S345F	ENSP00000281741:S345F	S	-	2	0	TXNDC16	52024905	0.998000	0.40836	0.947000	0.38551	0.511000	0.34104	2.868000	0.48436	1.325000	0.45301	0.557000	0.71058	TCT	TXNDC16	-	superfamily_Thioredoxin-like_fold	ENSG00000087301		0.299	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	71	0.00	0	G	XM_051699		52955155	52955155	-1	no_errors	ENST00000281741	ensembl	human	known	69_37n	missense	108	43.46	83	SNP	0.996	A
TXNRD1	7296	genome.wustl.edu	37	12	104703836	104703836	+	Missense_Mutation	SNP	A	A	G	rs7134193	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:104703836A>G	ENST00000526950.1	+	1	208	c.130A>G	c.(130-132)Aca>Gca	p.T44A	TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000427956.1_Missense_Mutation_p.T90A|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	0					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TTCACCCCCTACATCTGATAG	0.463													A|||	993	0.198283	0.2723	0.1671	5008	,	,		18394	0.0228		0.2475	False		,,,				2504	0.2505				Ovarian(139;555 1836 9186 9946 10884)	dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000526950.1:c.130A>G	12.37:g.104703836A>G	ENSP00000432812:p.Thr44Ala		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.T90A	ENST00000526950.1	37	c.268		12	415	0.190018315018315	147	0.29878048780487804	62	0.1712707182320442	8	0.013986013986013986	198	0.2612137203166227	A	2.304	-0.359540	0.05138	.	.	ENSG00000198431	ENST00000528079;ENST00000427956;ENST00000526950	T;T	0.68331	-0.24;-0.32	5.68	-11.1	0.00147	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.05767	-1.0865	7	0.34782	T	0.22	.	13.9743	0.64262	0.149:0.2166:0.6344:0.0	rs7134193	90	E7EW10	.	A	44;90;44	ENSP00000393328:T90A;ENSP00000432812:T44A	ENSP00000393328:T90A	T	+	1	0	TXNRD1	103227966	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	-1.760000	0.01806	-1.702000	0.01411	-1.729000	0.00701	ACA	TXNRD1	-	NULL	ENSG00000198431		0.463	TXNRD1-009	PUTATIVE	basic|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389976.1	14	0.00	0	A	NM_003330		104703836	104703836	+1	no_errors	ENST00000427956	ensembl	human	known	69_37n	missense	0	100.00	9	SNP	0.000	G
UBAP2	55833	genome.wustl.edu	37	9	33935736	33935736	+	Silent	SNP	A	A	G	rs307652	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:33935736A>G	ENST00000379225.1	-	5	1392	c.969T>C	c.(967-969)ctT>ctC	p.L323L	UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000418786.2_Intron|SNORD121B_ENST00000458838.1_RNA|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_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)		TTTAACGAATAAGCCATTGAC	0.448													G|||	3256	0.65016	0.6067	0.5951	5008	,	,		19601	0.7321		0.6233	False		,,,				2504	0.6912					dbGAP											0																																										-	-	-	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	ENST00000379225.1:c.969T>C	9.37:g.33935736A>G				Silent	SNP	pfam_DUF3697_Uba2	p.L323	ENST00000379225.1	37	c.969		9																																																																																			UBAP2	-	NULL	ENSG00000137073		0.448	UBAP2-008	KNOWN	basic	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000207580.1	19	0.00	0	A	NM_018449		33935736	33935736	-1	no_errors	ENST00000379225	ensembl	human	known	69_37n	silent	16	56.76	21	SNP	0.000	G
UBC	7316	genome.wustl.edu	37	12	125397061	125397061	+	Silent	SNP	G	G	A	rs17840844	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:125397061G>A	ENST00000536769.1	-	1	2833	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.D419D|UBC_ENST00000546120.1_Silent_p.D343D|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	419	Ubiquitin-like 6. {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)		ACCTCTGCTGGTCAGGAGGGA	0.537													G|||	1838	0.367013	0.1657	0.4308	5008	,	,		31861	0.2103		0.5686	False		,,,				2504	0.5481					dbGAP											0													54.0	52.0	53.0					12																	125397061		2150	4211	6361	-	-	-	SO:0001819	synonymous_variant	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.1257C>T	12.37:g.125397061G>A			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.D419	ENST00000536769.1	37	c.1257	CCDS9260.1	12																																																																																			UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.537	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	154	0.00	0	G	NM_021009		125397061	125397061	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	silent	97	35.76	54	SNP	1.000	A
UBC	7316	genome.wustl.edu	37	12	125397364	125397364	+	Silent	SNP	A	A	G	rs8963	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:125397364A>G	ENST00000536769.1	-	1	2530	c.954T>C	c.(952-954)acT>acC	p.T318T	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.T318T|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.T242T|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	318	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)		CCACTTCGAGAGTGATGGTCT	0.522													G|||	2306	0.460463	0.1778	0.5476	5008	,	,		27904	0.2083		0.7714	False		,,,				2504	0.7209					dbGAP											0													92.0	78.0	82.0					12																	125397364		2202	4286	6488	-	-	-	SO:0001819	synonymous_variant	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.954T>C	12.37:g.125397364A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.T318	ENST00000536769.1	37	c.954	CCDS9260.1	12																																																																																			UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	230	0.86	2	A	NM_021009		125397364	125397364	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	silent	137	36.87	80	SNP	1.000	G
UBL4A	8266	genome.wustl.edu	37	X	153713787	153713787	+	3'UTR	SNP	C	C	T	rs7057286	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chrX:153713787C>T	ENST00000369660.4	-	0	650				UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.R142H	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A						cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CCAGCTATGACGATGATGAGC	0.572													T|||	1481	0.392318	0.6755	0.1081	3775	,	,		14229	0.123		0.0944	False		,,,				2504	0.3006				Esophageal Squamous(74;88 1215 11149 34177 46777)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.*91G>A	X.37:g.153713787C>T			Q5HY80	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup	p.R142H	ENST00000369660.4	37	c.425	CCDS14754.1	X	479	0.28872814948764314	219	0.7551724137931034	27	0.07714285714285714	36	0.06642066420664207	48	0.06818181818181818	T	10.91	1.483928	0.26598	.	.	ENSG00000102178	ENST00000369653	T	0.50548	0.74	3.84	-4.71	0.03279	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.27226	-1.0080	5	0.11182	T	0.66	-15.6668	7.2775	0.26292	0.0:0.3861:0.423:0.1909	rs7057286;rs7057286	.	.	.	H	142	ENSP00000358667:R142H	ENSP00000358667:R142H	R	-	2	0	UBL4A	153366981	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-1.762000	0.01803	-1.743000	0.01340	-0.407000	0.06327	CGT	UBL4A	-	NULL	ENSG00000102178		0.572	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4A	HGNC	protein_coding	OTTHUMT00000037238.2	51	0.00	0	C	NM_014235		153713787	153713787	-1	no_errors	ENST00000369653	ensembl	human	putative	69_37n	missense	4	77.78	14	SNP	0.000	T
UBR4	23352	genome.wustl.edu	37	1	19408135	19408135	+	Intron	SNP	G	G	C	rs12164496	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:19408135G>C	ENST00000375254.3	-	103	15036				UBR4_ENST00000375225.3_Missense_Mutation_p.L56V|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Intron|AL137127.1_ENST00000582644.1_RNA	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						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)		AGAGCAGGAAGAATTTGCTCA	0.488													G|||	244	0.048722	0.059	0.0461	5008	,	,		20689	0.0694		0.001	False		,,,				2504	0.0644					dbGAP											0																																										-	-	-	SO:0001627	intron_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.15009-68C>G	1.37:g.19408135G>C			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	NULL	p.L56V	ENST00000375254.3	37	c.166	CCDS189.1	1	78	0.03571428571428571	27	0.054878048780487805	13	0.03591160220994475	37	0.06468531468531469	1	0.0013192612137203166	G	6.476	0.456026	0.12283	.	.	ENSG00000127481	ENST00000375225	T	0.53857	0.6	3.83	-4.95	0.03048	.	.	.	.	.	T	0.04770	0.0129	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.17107	-1.0380	5	.	.	.	.	6.736	0.23409	0.2692:0.0:0.6006:0.1302	rs12164496;rs12164496	.	.	.	V	56	ENSP00000364373:L56V	.	L	-	1	0	UBR4	19280722	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.048000	0.11944	-1.074000	0.03132	-0.311000	0.09066	CTT	UBR4	-	NULL	ENSG00000127481		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	27	0.00	0	G	NM_020765		19408135	19408135	-1	no_errors	ENST00000375225	ensembl	human	known	69_37n	missense	29	46.30	25	SNP	0.000	C
UGT2B17	7367	genome.wustl.edu	37	4	69416556	69416556	+	Silent	SNP	T	T	C	rs13102139		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:69416556T>C	ENST00000317746.2	-	5	1194	c.1152A>G	c.(1150-1152)gcA>gcG	p.A384A		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	384					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	CATGGTAGATTGCCTCATAGA	0.428																																					Melanoma(18;649 833 28984 37818 38500)	dbGAP											0													143.0	105.0	118.0					4																	69416556		2108	3990	6098	-	-	-	SO:0001819	synonymous_variant	0			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1152A>G	4.37:g.69416556T>C				Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A384	ENST00000317746.2	37	c.1152	CCDS3523.1	4																																																																																			UGT2B17	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000197888		0.428	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	45	0.00	0	T	NM_001077		69416556	69416556	-1	no_errors	ENST00000317746	ensembl	human	known	69_37n	silent	116	34.64	62	SNP	0.720	C
UGT2A3	79799	genome.wustl.edu	37	4	69798466	69798466	+	Silent	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:69798466A>G	ENST00000251566.4	-	3	906	c.876T>C	c.(874-876)aaT>aaC	p.N292N	UGT2A3_ENST00000420231.2_Silent_p.N3N	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	292					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTGGACAAAATTTTCCATTT	0.323																																						dbGAP											0													99.0	102.0	101.0					4																	69798466		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.876T>C	4.37:g.69798466A>G			Q9H6S4	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N292	ENST00000251566.4	37	c.876	CCDS3525.1	4																																																																																			UGT2A3	-	pfam_UDP_glucos_trans	ENSG00000135220		0.323	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	130	0.00	0	A	NM_024743		69798466	69798466	-1	no_errors	ENST00000251566	ensembl	human	known	69_37n	silent	81	48.41	76	SNP	0.714	G
UGT3A2	167127	genome.wustl.edu	37	5	36039649	36039649	+	Silent	SNP	A	A	G			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:36039649A>G	ENST00000282507.3	-	5	1106	c.1005T>C	c.(1003-1005)caT>caC	p.H335H	UGT3A2_ENST00000545528.1_Silent_p.H33H|UGT3A2_ENST00000513300.1_Silent_p.H301H|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	335					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTGGGCCAATGAGAACACT	0.517																																						dbGAP											0													151.0	136.0	141.0					5																	36039649		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1005T>C	5.37:g.36039649A>G			B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H335	ENST00000282507.3	37	c.1005	CCDS3914.1	5																																																																																			UGT3A2	-	pfam_UDP_glucos_trans	ENSG00000168671		0.517	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	38	0.00	0	A	NM_174914		36039649	36039649	-1	no_errors	ENST00000282507	ensembl	human	known	69_37n	silent	78	36.59	45	SNP	0.000	G
UPF3AP2	147150	genome.wustl.edu	37	17	20279654	20279655	+	RNA	INS	-	-	TT	rs200407551|rs201092359|rs530996042	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:20279654_20279655insTT	ENST00000578315.1	-	0	51_52									UPF3A pseudogene 2																		atctgtctctcttttttttttt	0.381																																						dbGAP											0																																										-	-	-			0					17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279663_20279664dupTT				Splice_Site	INS	-	NULL	ENST00000578315.1	37	c.NULL		17																																																																																			UPF3AP2	-	-	ENSG00000214832		0.381	UPF3AP2-002	KNOWN	basic	processed_transcript	UPF3AP2	HGNC	pseudogene	OTTHUMT00000443627.1	122	0.81	1	-	NG_001546		20279654	20279655	-1	no_coding_region:pseudogene	ENST00000375294	ensembl	human	known	69_37n	splice_site_ins	151	17.93	33	INS	0.998:0.997	TT
URB2	9816	genome.wustl.edu	37	1	229772434	229772434	+	Missense_Mutation	SNP	C	C	T	rs540856421		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:229772434C>T	ENST00000258243.2	+	4	2210	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	692						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACTAGTTTCCGGTCTGAAGG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		22366	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													135.0	146.0	142.0					1																	229772434		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2074C>T	1.37:g.229772434C>T	ENSP00000258243:p.Arg692Trp		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.R692W	ENST00000258243.2	37	c.2074	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	C	5.851	0.341211	0.11069	.	.	ENSG00000135763	ENST00000258243	T	0.30981	1.51	5.12	0.753	0.18404	.	1.445370	0.04002	N	0.296620	T	0.22475	0.0542	N	0.22421	0.69	0.09310	N	1	P	0.50617	0.937	B	0.40534	0.332	T	0.31558	-0.9939	9	.	.	.	0.5456	9.411	0.38491	0.4064:0.4619:0.1317:0.0	.	692	Q14146	URB2_HUMAN	W	692	ENSP00000258243:R692W	.	R	+	1	2	URB2	227839057	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.047000	0.14056	-0.034000	0.13713	0.585000	0.79938	CGG	URB2	-	NULL	ENSG00000135763		0.443	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	58	0.00	0	C	NM_014777		229772434	229772434	+1	no_errors	ENST00000258243	ensembl	human	known	69_37n	missense	27	44.90	22	SNP	0.000	T
USP30	84749	genome.wustl.edu	37	12	109494574	109494574	+	Silent	SNP	A	A	G	rs200167889		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:109494574A>G	ENST00000257548.5	+	2	264	c.171A>G	c.(169-171)acA>acG	p.T57T	USP30_ENST00000392784.2_Silent_p.T26T|USP30-AS1_ENST00000478808.2_RNA	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	57					mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GTCCCATTACAGAAAGAAAGA	0.393																																						dbGAP											0													130.0	139.0	136.0					12																	109494574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.171A>G	12.37:g.109494574A>G			Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.T57	ENST00000257548.5	37	c.171	CCDS9123.2	12																																																																																			USP30	-	NULL	ENSG00000135093		0.393	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	HGNC	protein_coding	OTTHUMT00000257733.2	144	0.00	0	A	NM_032663		109494574	109494574	+1	no_errors	ENST00000257548	ensembl	human	known	69_37n	silent	161	34.02	83	SNP	0.914	G
CCDC144A	9720	genome.wustl.edu	37	17	16701629	16701629	+	3'UTR	SNP	G	G	A	rs11654031	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:16701629G>A	ENST00000443444.2	+	0	5988				RP11-219A15.1_ENST00000448331.3_3'UTR|USP32P1_ENST00000393005.2_RNA|RP11-219A15.4_ENST00000602730.1_RNA			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		AAATTTCCTCGGGAAAGTTTT	0.443													g|||	1234	0.246406	0.3911	0.1628	5008	,	,		22241	0.2093		0.0765	False		,,,				2504	0.3231					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*1564G>A	17.37:g.16701629G>A			O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-	ENSG00000188933		0.443	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		40	0.00	0	G			16701629	16701629	+1	no_errors	ENST00000341745	ensembl	human	known	69_37n	rna	170	34.62	90	SNP	1.000	A
CCDC144A	9720	genome.wustl.edu	37	17	16703420	16703420	+	3'UTR	SNP	T	T	C	rs11652122	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:16703420T>C	ENST00000443444.2	+	0	6359				RP11-219A15.1_ENST00000448331.3_3'UTR|USP32P1_ENST00000393005.2_RNA|RP11-219A15.4_ENST00000602730.1_RNA			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TAAGAAGAACTTGGATGCCAG	0.572																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*1935T>C	17.37:g.16703420T>C			O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-	ENSG00000188933		0.572	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		32	0.00	0	T			16703420	16703420	+1	no_errors	ENST00000341745	ensembl	human	known	69_37n	rna	64	30.85	29	SNP	1.000	C
CCDC144A	9720	genome.wustl.edu	37	17	16703493	16703493	+	3'UTR	SNP	G	G	A	rs28538200	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:16703493G>A	ENST00000443444.2	+	0	6432				RP11-219A15.1_ENST00000448331.3_3'UTR|USP32P1_ENST00000393005.2_RNA|RP11-219A15.4_ENST00000602730.1_RNA			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		GGGCATATGCGGGGGGTGGGC	0.522													N|||	1236	0.246805	0.3918	0.1628	5008	,	,		23787	0.2103		0.0765	False		,,,				2504	0.3231					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*2008G>A	17.37:g.16703493G>A			O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-	ENSG00000188933		0.522	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		56	0.00	0	G			16703493	16703493	+1	no_errors	ENST00000341745	ensembl	human	known	69_37n	rna	92	31.85	43	SNP	0.283	A
UVSSA	57654	genome.wustl.edu	37	4	1345606	1345606	+	Missense_Mutation	SNP	C	C	T	rs373828028		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr4:1345606C>T	ENST00000389851.4	+	4	980	c.533C>T	c.(532-534)gCg>gTg	p.A178V	UVSSA_ENST00000507531.1_Missense_Mutation_p.A178V|UVSSA_ENST00000511216.1_Missense_Mutation_p.A178V	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	178					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCCAGCCAGGCGGAGAGGGAG	0.562											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													59.0	68.0	65.0					4																	1345606		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.533C>T	4.37:g.1345606C>T	ENSP00000374501:p.Ala178Val	595	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.A178V	ENST00000389851.4	37	c.533	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153895	0.57259	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.31769	1.48;1.48;1.48	5.11	5.11	0.69529	.	0.102838	0.64402	D	0.000003	T	0.32376	0.0827	L	0.45744	1.44	0.80722	D	1	D	0.54772	0.968	B	0.42959	0.403	T	0.08432	-1.0722	10	0.40728	T	0.16	.	18.5271	0.90976	0.0:1.0:0.0:0.0	.	178	Q2YD98	K1530_HUMAN	V	178	ENSP00000425130:A178V;ENSP00000374501:A178V;ENSP00000421741:A178V	ENSP00000374501:A178V	A	+	2	0	KIAA1530	1335606	0.999000	0.42202	0.682000	0.30024	0.066000	0.16364	4.523000	0.60545	2.389000	0.81357	0.561000	0.74099	GCG	UVSSA	-	NULL	ENSG00000163945		0.562	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	170	0.58	1	C	NM_020894		1345606	1345606	+1	no_errors	ENST00000389851	ensembl	human	known	69_37n	missense	34	53.25	41	SNP	0.982	T
VCP	7415	genome.wustl.edu	37	9	35061169	35061169	+	Missense_Mutation	SNP	T	T	C	rs148329626	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr9:35061169T>C	ENST00000358901.6	-	11	2097	c.1202A>G	c.(1201-1203)aAt>aGt	p.N401S		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	401					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGAGTCTCATTGGCTACCTG	0.527													T|||	4	0.000798722	0.0	0.0014	5008	,	,		20338	0.0		0.001	False		,,,				2504	0.002					dbGAP											0													86.0	84.0	85.0					9																	35061169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1202A>G	9.37:g.35061169T>C	ENSP00000351777:p.Asn401Ser		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48	p.N401S	ENST00000358901.6	37	c.1202	CCDS6573.1	9	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	12.98	2.100232	0.37048	.	.	ENSG00000165280	ENST00000358901	D	0.94613	-3.47	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	N	0.05330	-0.07	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.82916	-0.0220	10	0.27082	T	0.32	-13.1243	15.2702	0.73696	0.0:0.0:0.0:1.0	.	401	P55072	TERA_HUMAN	S	401	ENSP00000351777:N401S	ENSP00000351777:N401S	N	-	2	0	VCP	35051169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.997000	0.88414	2.079000	0.62486	0.379000	0.24179	AAT	VCP	-	tigrfam_ATPase_AAA_CDC48	ENSG00000165280		0.527	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	30	0.00	0	T	NM_007126		35061169	35061169	-1	no_errors	ENST00000358901	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	1.000	C
VPS11	55823	genome.wustl.edu	37	11	118952249	118952249	+	Silent	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:118952249C>T	ENST00000300793.6	+	17	2781	c.2739C>T	c.(2737-2739)acC>acT	p.T913T	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	914					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)		CTCTGCTGACCGACCCTCCCA	0.552																																						dbGAP											0													69.0	75.0	73.0					11																	118952249		2019	4168	6187	-	-	-	SO:0001819	synonymous_variant	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.2739C>T	11.37:g.118952249C>T			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-	ENSG00000160695		0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		36	0.00	0	C	NM_021729		118952249	118952249	+1	no_errors	ENST00000300793	ensembl	human	known	69_37n	rna	6	68.42	13	SNP	0.002	T
VWDE	221806	genome.wustl.edu	37	7	12409924	12409924	+	Missense_Mutation	SNP	C	C	T	rs143911862	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:12409924C>T	ENST00000275358.3	-	12	2196	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	670						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TTAATATATTCGGAGGTGACA	0.348													C|||	19	0.00379393	0.0008	0.0029	5008	,	,		18770	0.001		0.003	False		,,,				2504	0.0123					dbGAP											0													36.0	28.0	30.0					7																	12409924		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.2008G>A	7.37:g.12409924C>T	ENSP00000275358:p.Glu670Lys		B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E670K	ENST00000275358.3	37	c.2008	CCDS47544.1	7	8	0.003663003663003663	1	0.0020325203252032522	2	0.0055248618784530384	1	0.0017482517482517483	4	0.005277044854881266	C	9.590	1.125768	0.20959	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	D	0.82984	-1.67	4.93	3.0	0.34707	.	.	.	.	.	T	0.62085	0.2399	N	0.12182	0.205	0.30464	N	0.77401	B	0.19817	0.039	B	0.17098	0.017	T	0.63211	-0.6688	9	0.59425	D	0.04	.	10.4622	0.44585	0.0:0.8301:0.0:0.1699	.	670	Q8N2E2	VWDE_HUMAN	K	670;124	ENSP00000275358:E670K	ENSP00000275358:E670K	E	-	1	0	VWDE	12376449	0.996000	0.38824	0.942000	0.38095	0.088000	0.18126	2.759000	0.47573	0.582000	0.29556	-0.137000	0.14449	GAA	VWDE	-	NULL	ENSG00000146530		0.348	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	34	0.00	0	C	XM_371878		12409924	12409924	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	missense	49	58.47	69	SNP	0.980	T
WASH4P	374677	genome.wustl.edu	37	16	64458	64458	+	Missense_Mutation	SNP	G	G	A	rs12444477	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr16:64458G>A	ENST00000326592.9	-	10	2015	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	453					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TCTGACACGCGGGCAAAGGCT	0.647													G|||	1540	0.307508	0.2057	0.438	5008	,	,		8528	0.0298		0.5865	False		,,,				2504	0.3517					dbGAP											0																																										-	-	-	SO:0001583	missense	0					16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.1357C>T	16.37:g.64458G>A	ENSP00000317542:p.Arg453Cys			Missense_Mutation	SNP	pfam_WASH_WASD	p.R453C	ENST00000326592.9	37	c.1357		16	.	.	.	.	.	.	.	.	.	.	g	14.62	2.590989	0.46214	.	.	ENSG00000234769	ENST00000326592	.	.	.	0.379	0.379	0.16213	.	0.059594	0.64402	N	0.000005	T	0.56217	0.1970	.	.	.	0.09310	P	0.99999140115	.	.	.	.	.	.	T	0.67848	-0.5564	4	0.87932	D	0	-0.2976	.	.	.	.	.	.	.	C	453	.	ENSP00000317542:R453C	R	-	1	0	WASH4P	4458	1.000000	0.71417	0.794000	0.32065	0.583000	0.36354	2.115000	0.41921	0.437000	0.26423	0.184000	0.17185	CGC	WASH4P	-	NULL	ENSG00000234769		0.647	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	WASH4P	HGNC	protein_coding	OTTHUMT00000133175.2	12	0.00	0	G	NG_003159		64458	64458	-1	no_errors	ENST00000326592	ensembl	human	novel	69_37n	missense	0	100.00	6	SNP	1.000	A
WDR33	55339	genome.wustl.edu	37	2	128477151	128477151	+	Silent	SNP	T	T	C	rs541391708		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:128477151T>C	ENST00000322313.4	-	16	2606	c.2448A>G	c.(2446-2448)ccA>ccG	p.P816P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	816					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)		GTAGTCCACCTGGAGGGTGAG	0.637													T|||	1	0.000199681	0.0	0.0	5008	,	,		17346	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													31.0	34.0	33.0					2																	128477151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2448A>G	2.37:g.128477151T>C			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P816	ENST00000322313.4	37	c.2448	CCDS2150.1	2																																																																																			WDR33	-	NULL	ENSG00000136709		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	15	0.00	0	T	NM_018383		128477151	128477151	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	silent	13	38.10	8	SNP	0.340	C
WDR55	54853	genome.wustl.edu	37	5	140049218	140049218	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr5:140049218G>T	ENST00000358337.5	+	7	1368	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	377					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGGAGGAGACTGGGGATG	0.532																																						dbGAP											0													41.0	41.0	41.0					5																	140049218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1131G>T	5.37:g.140049218G>T	ENSP00000351100:p.Glu377Asp		Q9NXK4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E377D	ENST00000358337.5	37	c.1131	CCDS4235.1	5	.	.	.	.	.	.	.	.	.	.	G	5.059	0.196500	0.09599	.	.	ENSG00000120314	ENST00000358337	T	0.30448	1.53	5.36	-0.38	0.12490	.	2.218870	0.02091	N	0.053174	T	0.18718	0.0449	N	0.12746	0.255	0.18873	N	0.999984	B	0.06786	0.001	B	0.08055	0.003	T	0.18777	-1.0326	10	0.31617	T	0.26	-11.4957	7.3018	0.26424	0.2676:0.4437:0.2886:0.0	.	377	Q9H6Y2	WDR55_HUMAN	D	377	ENSP00000351100:E377D	ENSP00000351100:E377D	E	+	3	2	WDR55	140029402	0.000000	0.05858	0.932000	0.37286	0.301000	0.27625	-1.593000	0.02096	-0.009000	0.14296	0.467000	0.42956	GAG	WDR55	-	pirsf_WD_repeat_p55	ENSG00000120314		0.532	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR55	HGNC	protein_coding	OTTHUMT00000251680.3	79	0.00	0	G	NM_017706		140049218	140049218	+1	no_errors	ENST00000358337	ensembl	human	known	69_37n	missense	13	50.00	13	SNP	0.170	T
DAW1	164781	genome.wustl.edu	37	2	228769717	228769717	+	Missense_Mutation	SNP	C	C	T	rs200640275		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr2:228769717C>T	ENST00000309931.2	+	8	804	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	DAW1_ENST00000373666.2_Missense_Mutation_p.H241Y|DAW1_ENST00000545118.1_Missense_Mutation_p.H226Y	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	241						cilium (GO:0005929)											GTCTTTTGATCATACCGTTGT	0.413																																						dbGAP											0													167.0	171.0	169.0					2																	228769717		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.721C>T	2.37:g.228769717C>T	ENSP00000311899:p.His241Tyr		Q6ZRY1|Q8N776	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H241Y	ENST00000309931.2	37	c.721	CCDS2470.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188762	0.78789	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.60548	0.18;0.18;0.18	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.392143	0.29342	N	0.012431	T	0.67869	0.2939	L	0.42008	1.315	0.54753	D	0.999987	D	0.69078	0.997	D	0.64595	0.927	T	0.68439	-0.5408	10	0.51188	T	0.08	.	16.2822	0.82697	0.0:1.0:0.0:0.0	.	241	Q8N136	WDR69_HUMAN	Y	241;241;226	ENSP00000362770:H241Y;ENSP00000311899:H241Y;ENSP00000437887:H226Y	ENSP00000311899:H241Y	H	+	1	0	WDR69	228477961	0.999000	0.42202	1.000000	0.80357	0.894000	0.52154	2.957000	0.49137	2.449000	0.82847	0.491000	0.48974	CAT	WDR69	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000123977		0.413	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR69	HGNC	protein_coding	OTTHUMT00000331745.1	137	0.00	0	C	NM_178821		228769717	228769717	+1	no_errors	ENST00000309931	ensembl	human	known	69_37n	missense	132	46.12	113	SNP	1.000	T
WDR78	79819	genome.wustl.edu	37	1	67306238	67306238	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:67306238C>T	ENST00000371026.3	-	9	1463	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	WDR78_ENST00000371023.3_Missense_Mutation_p.A470T|WDR78_ENST00000431318.1_Missense_Mutation_p.A216T	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	470					hematopoietic progenitor cell differentiation (GO:0002244)			p.A470T(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCCAAGTTGGCGGGTATTGTT	0.408																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											210.0	208.0	209.0					1																	67306238		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1408G>A	1.37:g.67306238C>T	ENSP00000360065:p.Ala470Thr		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A470T	ENST00000371026.3	37	c.1408	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	5.614	0.298065	0.10622	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	T;T;T;T;T	0.67698	0.41;-0.28;-0.28;2.17;1.58	5.92	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);	0.051419	0.85682	D	0.000000	T	0.35364	0.0929	N	0.14661	0.345	0.27712	N	0.945433	B;B;B	0.31413	0.184;0.322;0.322	B;B;B	0.34385	0.181;0.139;0.139	T	0.41592	-0.9500	10	0.72032	D	0.01	-17.7865	14.0481	0.64716	0.0:0.4937:0.5063:0.0	.	216;470;470	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	T	470;216;236;470;92	ENSP00000360065:A470T;ENSP00000393182:A216T;ENSP00000433682:A236T;ENSP00000360062:A470T;ENSP00000433037:A92T	ENSP00000360062:A470T	A	-	1	0	WDR78	67078826	0.997000	0.39634	1.000000	0.80357	0.008000	0.06430	1.861000	0.39438	1.497000	0.48584	-0.156000	0.13503	GCC	WDR78	-	NULL	ENSG00000152763		0.408	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	168	0.00	0	C	NM_024763		67306238	67306238	-1	no_errors	ENST00000371026	ensembl	human	known	69_37n	missense	257	28.01	100	SNP	0.997	T
WRNIP1	56897	genome.wustl.edu	37	6	2770366	2770366	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr6:2770366C>T	ENST00000380773.4	+	3	1236	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	WRNIP1_ENST00000380771.4_Intron|WRNIP1_ENST00000380769.4_Missense_Mutation_p.P123S|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CACTTTCCTTCCTCACGTGGA	0.488																																						dbGAP											0													134.0	113.0	120.0					6																	2770366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1027C>T	6.37:g.2770366C>T	ENSP00000370150:p.Pro343Ser			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.P343S	ENST00000380773.4	37	c.1027	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.310329	0.95629	.	.	ENSG00000124535	ENST00000380773;ENST00000380769	T;T	0.42513	0.97;0.97	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.64567	1.98	0.80722	D	1	P	0.50272	0.933	P	0.62014	0.897	T	0.55341	-0.8156	10	0.87932	D	0	-5.1143	19.6125	0.95613	0.0:1.0:0.0:0.0	.	343	Q96S55	WRIP1_HUMAN	S	343;123	ENSP00000370150:P343S;ENSP00000370146:P123S	ENSP00000370146:P123S	P	+	1	0	WRNIP1	2715365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.642000	0.83385	2.879000	0.98667	0.650000	0.86243	CCT	WRNIP1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000124535		0.488	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	90	0.00	0	C	NM_130395		2770366	2770366	+1	no_errors	ENST00000380773	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	1.000	T
XIRP1	165904	genome.wustl.edu	37	3	39227620	39227620	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:39227620C>T	ENST00000340369.3	-	2	3545	c.3317G>A	c.(3316-3318)gGg>gAg	p.G1106E	XIRP1_ENST00000396251.1_Missense_Mutation_p.G1106E|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1106					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTTCCACCCCCAGGCCTTAT	0.607																																						dbGAP											0													63.0	65.0	65.0					3																	39227620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3317G>A	3.37:g.39227620C>T	ENSP00000343140:p.Gly1106Glu		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.G1106E	ENST00000340369.3	37	c.3317	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	8.502	0.864420	0.17250	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04551	3.6;4.01	4.69	-0.341	0.12639	.	1.042200	0.07606	U	0.924492	T	0.02494	0.0076	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.13145	0.007;0.007	B;B	0.11329	0.004;0.006	T	0.45498	-0.9257	10	0.02654	T	1	.	1.0634	0.01605	0.3378:0.3323:0.1822:0.1476	.	1106;1106	Q702N8;Q702N8-2	XIRP1_HUMAN;.	E	1106	ENSP00000379550:G1106E;ENSP00000343140:G1106E	ENSP00000343140:G1106E	G	-	2	0	XIRP1	39202624	0.000000	0.05858	0.323000	0.25347	0.574000	0.36063	0.179000	0.16840	0.069000	0.16605	-0.262000	0.10625	GGG	XIRP1	-	NULL	ENSG00000168334		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	22	0.00	0	C	XM_093522		39227620	39227620	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.158	T
XPO4	64328	genome.wustl.edu	37	13	21357913	21357914	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr13:21357913_21357914delTT	ENST00000255305.6	-	23	3474_3475	c.3403_3404delAA	c.(3403-3405)aagfs	p.K1135fs	XPO4_ENST00000400602.2_Frame_Shift_Del_p.K1135fs			Q9C0E2	XPO4_HUMAN	exportin 4	1135					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTCTAAACTCTTTAAGAAGGCC	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3403_3404delAA	13.37:g.21357913_21357914delTT	ENSP00000255305:p.Lys1135fs		Q5VUZ5|Q8N3V6|Q9H934	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.K1135fs	ENST00000255305.6	37	c.3404_3403	CCDS41872.1	13																																																																																			XPO4	-	NULL	ENSG00000132953		0.411	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	67	0.00	0	TT	NM_022459		21357913	21357914	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	frame_shift_del	70	36.04	40	DEL	1.000:1.000	-
YPEL4	219539	genome.wustl.edu	37	11	57413798	57413798	+	Missense_Mutation	SNP	C	C	T	rs112381337		TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr11:57413798C>T	ENST00000524669.1	-	4	2988	c.266G>A	c.(265-267)aGc>aAc	p.S89N	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000534711.1_Missense_Mutation_p.S89N|YPEL4_ENST00000544993.1_Missense_Mutation_p.S89N|YPEL4_ENST00000300022.3_Missense_Mutation_p.S89N|YPEL4_ENST00000531442.1_5'Flank			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	89						nucleus (GO:0005634)				lung(2)|skin(1)	3						GGTTTTGCAGCTCTCACAGAA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18911	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													90.0	82.0	85.0					11																	57413798		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.266G>A	11.37:g.57413798C>T	ENSP00000432648:p.Ser89Asn		B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	pfam_Yippee	p.S89N	ENST00000524669.1	37	c.266	CCDS7963.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.572	1.121261	0.20877	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.33	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.02315	-0.6	0.44439	D	0.997369	B	0.02656	0.0	B	0.09377	0.004	T	0.06698	-1.0812	9	0.15499	T	0.54	-3.6686	9.9981	0.41911	0.0:0.8449:0.0:0.1551	.	89	Q96NS1	YPEL4_HUMAN	N	89	.	ENSP00000300022:S89N	S	-	2	0	YPEL4	57170374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.560000	0.45896	1.263000	0.44181	0.555000	0.69702	AGC	YPEL4	-	pfam_Yippee	ENSG00000166793		0.557	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YPEL4	HGNC	protein_coding	OTTHUMT00000393370.1	65	0.00	0	C	NM_145008		57413798	57413798	-1	no_errors	ENST00000300022	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	1.000	T
ZACN	353174	genome.wustl.edu	37	17	74076642	74076642	+	Intron	SNP	G	G	A	rs2257028	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:74076642G>A	ENST00000334586.5	+	5	627				EXOC7_ENST00000591724.1_5'Flank|ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GAACTCCCAGGTCTGTGTTCA	0.657													G|||	2167	0.432708	0.0439	0.4135	5008	,	,		17546	0.5188		0.6044	False		,,,				2504	0.7065					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.544+137G>A	17.37:g.74076642G>A			Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	p.R227	ENST00000334586.5	37	c.681	CCDS11740.2	17																																																																																			ZACN	-	NULL	ENSG00000186919		0.657	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	9	0.00	0	G	NM_180990		74076642	74076642	+1	no_errors	ENST00000425015	ensembl	human	known	69_37n	silent	0	100.00	11	SNP	0.039	A
ZBED4	9889	genome.wustl.edu	37	22	50277363	50277363	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr22:50277363A>T	ENST00000216268.5	+	2	530	c.53A>T	c.(52-54)gAt>gTt	p.D18V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	18						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)		TTCGTTTCTGATAAAATAAAG	0.383																																						dbGAP											0													45.0	50.0	48.0					22																	50277363		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.53A>T	22.37:g.50277363A>T	ENSP00000216268:p.Asp18Val		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.D18V	ENST00000216268.5	37	c.53	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564302	0.27915	.	.	ENSG00000100426	ENST00000216268	T	0.51325	0.71	5.0	2.83	0.33086	.	0.890957	0.09637	N	0.775499	T	0.29850	0.0746	N	0.24115	0.695	0.20403	N	0.999904	P	0.36616	0.561	B	0.28305	0.088	T	0.13575	-1.0504	10	0.66056	D	0.02	-4.1464	7.0162	0.24889	0.6399:0.2811:0.079:0.0	.	18	O75132	ZBED4_HUMAN	V	18	ENSP00000216268:D18V	ENSP00000216268:D18V	D	+	2	0	ZBED4	48663367	0.419000	0.25449	0.072000	0.20136	0.673000	0.39480	1.459000	0.35234	0.358000	0.24211	0.528000	0.53228	GAT	ZBED4	-	NULL	ENSG00000100426		0.383	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	41	0.00	0	A	NM_014838		50277363	50277363	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.070	T
ZFC3H1	196441	genome.wustl.edu	37	12	72009055	72009055	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:72009055C>T	ENST00000378743.3	-	28	5544	c.5186G>A	c.(5185-5187)cGt>cAt	p.R1729H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1729					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTACATAAACGAGATGGAAT	0.343																																						dbGAP											0													113.0	101.0	105.0					12																	72009055		1840	4083	5923	-	-	-	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5186G>A	12.37:g.72009055C>T	ENSP00000368017:p.Arg1729His		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.R1729H	ENST00000378743.3	37	c.5186	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	5.948	0.358951	0.11239	.	.	ENSG00000133858	ENST00000378743	T	0.30182	1.54	4.96	-2.65	0.06095	Tetratricopeptide-like helical (1);	0.998723	0.08105	N	0.997160	T	0.12732	0.0309	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.35624	-0.9781	10	0.13853	T	0.58	.	7.3536	0.26706	0.0:0.2143:0.4332:0.3524	.	1729	O60293	ZC3H1_HUMAN	H	1729	ENSP00000368017:R1729H	ENSP00000368017:R1729H	R	-	2	0	ZFC3H1	70295322	0.972000	0.33761	0.039000	0.18376	0.954000	0.61252	0.265000	0.18515	-0.253000	0.09514	0.557000	0.71058	CGT	ZFC3H1	-	NULL	ENSG00000133858		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	77	0.00	0	C	NM_144982		72009055	72009055	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	missense	141	45.98	120	SNP	0.144	T
ZNF295-AS1	150142	genome.wustl.edu	37	21	43444504	43444504	+	lincRNA	SNP	G	G	A	rs75746226|rs376508290	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr21:43444504G>A	ENST00000596595.1	+	0	2313							Q8N0V1	ZNAS1_HUMAN	ZNF295 antisense RNA 1																		CCCCACCGTCGTCTTCCAGTC	0.587													g|||	1071	0.213858	0.0189	0.379	5008	,	,		14970	0.3611		0.1849	False		,,,				2504	0.2382					dbGAP											0													103.0	121.0	115.0					21																	43444504		692	1591	2283	-	-	-			0					21q22.3	2012-10-12	2012-08-15	2011-08-11	ENSG00000237232	ENSG00000237232		"""Long non-coding RNAs"""	23130	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 121"", ""non-protein coding RNA 318"", ""ZNF295 antisense RNA 1 (non-protein coding)"""	C21orf121, NCRNA00318			Standard	NR_119384		Approved	PRED87	uc011aeu.1	Q8N0V1	OTTHUMG00000086787		21.37:g.43444504G>A				RNA	SNP	-	NULL	ENST00000596595.1	37	NULL		21																																																																																			ZNF295-AS1	-	-	ENSG00000237232		0.587	ZNF295-AS1-201	KNOWN	basic	lincRNA	ZNF295-AS1	HGNC	lincRNA		221	0.45	1	G	NR_027273		43444504	43444504	+1	no_errors	ENST00000412906	ensembl	human	known	69_37n	rna	72	51.68	77	SNP	0.061	A
ZNF397	84307	genome.wustl.edu	37	18	32826159	32826159	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr18:32826159T>A	ENST00000330501.7	+	4	1643	c.1490T>A	c.(1489-1491)gTt>gAt	p.V497D	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	497					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						TCAGCCCTTGTTCAGCATCAG	0.428																																						dbGAP											0													97.0	97.0	97.0					18																	32826159		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.1490T>A	18.37:g.32826159T>A	ENSP00000331577:p.Val497Asp		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.V497D	ENST00000330501.7	37	c.1490	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264456	0.23136	.	.	ENSG00000186812	ENST00000330501	T	0.37915	1.17	4.31	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.693500	0.04158	N	0.322555	T	0.29458	0.0734	N	0.17838	0.53	0.09310	N	1	P	0.37158	0.585	B	0.44044	0.439	T	0.22556	-1.0213	9	.	.	.	.	3.4654	0.07548	0.0:0.1885:0.2263:0.5852	.	497	Q8NF99	ZN397_HUMAN	D	497	ENSP00000331577:V497D	.	V	+	2	0	ZNF397	31080157	0.000000	0.05858	0.990000	0.47175	0.668000	0.39293	0.001000	0.13038	0.267000	0.21916	0.254000	0.18369	GTT	ZNF397	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186812		0.428	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	103	0.96	1	T	NM_032347		32826159	32826159	+1	no_errors	ENST00000330501	ensembl	human	known	69_37n	missense	98	28.99	40	SNP	0.026	A
ZNF438	220929	genome.wustl.edu	37	10	31139222	31139222	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr10:31139222delC	ENST00000361310.3	-	6	441	c.112delG	c.(112-114)gcafs	p.A38fs	ZNF438_ENST00000538351.2_5'UTR|ZNF438_ENST00000413025.1_Frame_Shift_Del_p.A38fs|ZNF438_ENST00000442986.1_Frame_Shift_Del_p.A38fs|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Frame_Shift_Del_p.A38fs|ZNF438_ENST00000452305.1_Frame_Shift_Del_p.A28fs|ZNF438_ENST00000331737.6_Frame_Shift_Del_p.A28fs|ZNF438_ENST00000444692.2_Frame_Shift_Del_p.A28fs			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	38					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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTGGTGCAATGGTCCTA	0.428																																						dbGAP											0													169.0	154.0	159.0					10																	31139222		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.112delG	10.37:g.31139222delC	ENSP00000354663:p.Ala38fs		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A38fs	ENST00000361310.3	37	c.112	CCDS7168.1	10																																																																																			ZNF438	-	NULL	ENSG00000183621		0.428	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	46	0.00	0	C	NM_182755		31139222	31139222	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	frame_shift_del	137	18.02	31	DEL	1.000	-
ZNF492	57615	genome.wustl.edu	37	19	22848028	22848028	+	Missense_Mutation	SNP	G	G	C	rs3745115	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:22848028G>C	ENST00000456783.2	+	4	1801	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	519					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.K519N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATTGCAAAGATTTCCAAAT	0.323													N|||	980	0.195687	0.354	0.1268	5008	,	,		20410	0.1667		0.1302	False		,,,				2504	0.1278					dbGAP											1	Substitution - Missense(1)	stomach(1)											18.0	18.0	18.0					19																	22848028		1781	4025	5806	-	-	-	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1557G>C	19.37:g.22848028G>C	ENSP00000413660:p.Lys519Asn		Q08EI7|Q08EI8	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.K519N	ENST00000456783.2	37	c.1557	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.565994	0.00134	.	.	ENSG00000229676	ENST00000456783	T	0.07688	3.17	1.03	-2.06	0.07298	.	.	.	.	.	T	0.02156	0.0067	N	0.03000	-0.44	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	8	0.07482	T	0.82	.	0.2809	0.00244	0.2469:0.289:0.2459:0.2181	rs3745115;rs7259827;rs59664756	519	Q9P255	ZN492_HUMAN	N	519	ENSP00000413660:K519N	ENSP00000413660:K519N	K	+	3	2	ZNF492	22639868	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-0.195000	0.09546	-1.287000	0.02381	-1.858000	0.00562	AAG	ZNF492	-	NULL	ENSG00000229676		0.323	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	39	0.00	0	G	NM_020855		22848028	22848028	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	missense	109	45.23	90	SNP	0.007	C
ZNF568	374900	genome.wustl.edu	37	19	37487632	37487632	+	Missense_Mutation	SNP	G	G	A	rs935706	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:37487632G>A	ENST00000455427.2	+	9	1176	c.847G>A	c.(847-849)Gcc>Acc	p.A283T		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	314					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACAAATGTGCCTTTAATCA	0.363													G|||	2487	0.496605	0.6006	0.5346	5008	,	,		22453	0.25		0.5109	False		,,,				2504	0.5685					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.847G>A	19.37:g.37487632G>A	ENSP00000413396:p.Ala283Thr		B4DS92|E7ER33|Q6N060|Q8NA64	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.A283T	ENST00000455427.2	37	c.847	CCDS56093.1	19	1029	0.47115384615384615	300	0.6097560975609756	189	0.5220994475138122	148	0.25874125874125875	392	0.5171503957783641	G	13.99	2.401191	0.42613	.	.	ENSG00000198453	ENST00000444991;ENST00000455427;ENST00000433993	T;T;T	0.15256	3.29;2.44;2.44	3.98	0.529	0.17095	.	.	.	.	.	T	0.00012	0.0000	L	0.48642	1.525	0.36684	P	0.12077700000000002	B;B	0.17465	0.022;0.022	B;B	0.17098	0.011;0.017	T	0.33574	-0.9863	8	0.54805	T	0.06	.	3.7518	0.08569	0.233:0.2072:0.5598:0.0	rs935706;rs17206449;rs52827143;rs59423654;rs935706	283;283	E7ER33;B4DS92	.;.	T	347;283;215	ENSP00000389794:A347T;ENSP00000413396:A283T;ENSP00000399643:A215T	ENSP00000399643:A215T	A	+	1	0	ZNF568	42179472	0.001000	0.12720	0.002000	0.10522	0.522000	0.34438	0.235000	0.17948	0.096000	0.17463	0.597000	0.82753	GCC	ZNF568	-	NULL	ENSG00000198453		0.363	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	22	0.00	0	G	NM_198539		37487632	37487632	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	0.019	A
ZNF568	374900	genome.wustl.edu	37	19	37487723	37487723	+	Missense_Mutation	SNP	G	G	A	rs935707	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:37487723G>A	ENST00000455427.2	+	9	1267	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	344					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTCGTTCCAGCTCA	0.423													A|||	2488	0.496805	0.6006	0.5346	5008	,	,		21469	0.251		0.5109	False		,,,				2504	0.5685					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.938G>A	19.37:g.37487723G>A	ENSP00000413396:p.Arg313His		B4DS92|E7ER33|Q6N060|Q8NA64	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.R313H	ENST00000455427.2	37	c.938	CCDS56093.1	19	1029	0.47115384615384615	300	0.6097560975609756	189	0.5220994475138122	148	0.25874125874125875	392	0.5171503957783641	A	13.79	2.340877	0.41498	.	.	ENSG00000198453	ENST00000444991;ENST00000455427;ENST00000433993	T;T;T	0.36520	1.25;3.13;2.24	3.77	-3.09	0.05331	.	.	.	.	.	T	0.00012	0.0000	L	0.39397	1.21	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43893	-0.9363	8	0.49607	T	0.09	.	2.1577	0.03816	0.2269:0.135:0.4165:0.2216	rs935707;rs17272408;rs52828606;rs61607318;rs935707	313;313	E7ER33;B4DS92	.;.	H	377;313;245	ENSP00000389794:R377H;ENSP00000413396:R313H;ENSP00000399643:R245H	ENSP00000399643:R245H	R	+	2	0	ZNF568	42179563	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	-4.503000	0.00224	-1.433000	0.01977	-0.334000	0.08254	CGT	ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.423	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	19	0.00	0	G	NM_198539		37487723	37487723	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.000	A
ZNF568	374900	genome.wustl.edu	37	19	37487975	37487975	+	Missense_Mutation	SNP	G	G	A	rs16971886	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:37487975G>A	ENST00000455427.2	+	9	1519	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	428					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTTTCGTTATGACACA	0.468													G|||	1381	0.275759	0.2905	0.379	5008	,	,		23245	0.0942		0.3608	False		,,,				2504	0.2822					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1190G>A	19.37:g.37487975G>A	ENSP00000413396:p.Arg397His		B4DS92|E7ER33|Q6N060|Q8NA64	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.R397H	ENST00000455427.2	37	c.1190	CCDS56093.1	19	601	0.2751831501831502	143	0.29065040650406504	123	0.3397790055248619	47	0.08216783216783216	288	0.37994722955145116	G	15.42	2.827593	0.50845	.	.	ENSG00000198453	ENST00000444991;ENST00000455427;ENST00000433993	T;T;T	0.08102	3.13;3.13;3.13	3.74	0.101	0.14517	.	.	.	.	.	T	0.00012	0.0000	L	0.28694	0.88	0.80722	P	0.0	D;D	0.54207	0.965;0.965	P;P	0.49561	0.615;0.615	T	0.47799	-0.9089	8	0.33940	T	0.23	.	2.1824	0.03878	0.1023:0.1688:0.3836:0.3453	rs16971886;rs52819337;rs16971886	397;397	E7ER33;B4DS92	.;.	H	461;397;329	ENSP00000389794:R461H;ENSP00000413396:R397H;ENSP00000399643:R329H	ENSP00000399643:R329H	R	+	2	0	ZNF568	42179815	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-4.985000	0.00163	0.027000	0.15297	0.597000	0.82753	CGT	ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.468	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	33	0.00	0	G	NM_198539		37487975	37487975	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	0.000	A
ZNF568	374900	genome.wustl.edu	37	19	37488197	37488197	+	Missense_Mutation	SNP	G	G	A	rs1345748	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:37488197G>A	ENST00000455427.2	+	9	1741	c.1412G>A	c.(1411-1413)tGt>tAt	p.C471Y		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	502					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTGTAAGTGTAAG	0.448													g|||	2487	0.496605	0.6006	0.5346	5008	,	,		22777	0.25		0.5109	False		,,,				2504	0.5685					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1412G>A	19.37:g.37488197G>A	ENSP00000413396:p.Cys471Tyr		B4DS92|E7ER33|Q6N060|Q8NA64	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.C471Y	ENST00000455427.2	37	c.1412	CCDS56093.1	19	1029	0.47115384615384615	300	0.6097560975609756	189	0.5220994475138122	148	0.25874125874125875	392	0.5171503957783641	a	0.106	-1.145078	0.01714	.	.	ENSG00000198453	ENST00000444991;ENST00000455427	T;T	0.12039	2.72;2.72	3.79	3.79	0.43588	.	.	.	.	.	T	0.00012	0.0000	N	0.00066	-2.3	0.09310	P	0.99999999733738	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42481	-0.9449	8	0.02654	T	1	.	3.4574	0.07521	0.6931:0.0:0.1104:0.1964	rs1345748;rs1644696;rs17272422;rs52803036;rs57207438;rs1345748	471;471	E7ER33;B4DS92	.;.	Y	535;471	ENSP00000389794:C535Y;ENSP00000413396:C471Y	ENSP00000389794:C535Y	C	+	2	0	ZNF568	42180037	.	.	0.949000	0.38748	0.985000	0.73830	.	.	0.628000	0.30357	-0.334000	0.08254	TGT	ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.448	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	27	0.00	0	G	NM_198539		37488197	37488197	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	missense	15	60.53	23	SNP	0.959	A
ZNF587B	100293516	genome.wustl.edu	37	19	58352522	58352522	+	Silent	SNP	G	G	A	rs12981244	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:58352522G>A	ENST00000442832.4	+	3	714	c.480G>A	c.(478-480)agG>agA	p.R160R	ZNF587B_ENST00000594901.1_Silent_p.R160R|ZNF587B_ENST00000316462.4_Splice_Site_p.R159R|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	160					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TTGTGAAGAGGTGTAAGTTGC	0.483													.|||	2869	0.572883	0.7405	0.5634	5008	,	,		21204	0.6796		0.4622	False		,,,				2504	0.3569					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.480G>A	19.37:g.58352522G>A			B4DR41	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.R160	ENST00000442832.4	37	c.480	CCDS56109.1	19																																																																																			ZNF587	-	NULL	ENSG00000198466		0.483	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000466834.2	253	0.00	0	G	NM_001204818		58352522	58352522	+1	no_errors	ENST00000442832	ensembl	human	known	69_37n	silent	104	51.40	110	SNP	0.000	A
ZNF594	84622	genome.wustl.edu	37	17	5086244	5086244	+	Silent	SNP	T	T	C			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:5086244T>C	ENST00000399604.4	-	1	1448	c.1308A>G	c.(1306-1308)aaA>aaG	p.K436K	ZNF594_ENST00000575779.1_Silent_p.K436K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	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)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTTCCCACATTTGCTACATA	0.393																																						dbGAP											0													135.0	139.0	138.0					17																	5086244		2116	4266	6382	-	-	-	SO:0001819	synonymous_variant	0			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1308A>G	17.37:g.5086244T>C			Q6RFS0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K436	ENST00000399604.4	37	c.1308	CCDS42241.1	17																																																																																			ZNF594	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180626		0.393	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	149	0.00	0	T	XM_290737		5086244	5086244	-1	no_errors	ENST00000399604	ensembl	human	known	69_37n	silent	186	36.73	108	SNP	0.038	C
ZNF620	253639	genome.wustl.edu	37	3	40554007	40554007	+	Splice_Site	SNP	G	G	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:40554007G>T	ENST00000314529.6	+	4	414		c.e4+1		ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATCTGTCCAGGTGAGCATGAG	0.522																																						dbGAP											0													84.0	80.0	82.0					3																	40554007		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.265+1G>T	3.37:g.40554007G>T			Q8N223	Splice_Site	SNP	-	e3+1	ENST00000314529.6	37	c.265+1	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274352	0.59649	.	.	ENSG00000177842	ENST00000420891;ENST00000314529	.	.	.	2.19	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2545	0.26168	0.1474:0.0:0.8525:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF620	40529011	1.000000	0.71417	0.084000	0.20598	0.955000	0.61496	1.880000	0.39628	0.453000	0.26858	0.557000	0.71058	.	ZNF620	-	-	ENSG00000177842		0.522	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	75	0.00	0	G	XM_171060	Intron	40554007	40554007	+1	no_errors	ENST00000314529	ensembl	human	known	69_37n	splice_site	92	23.97	29	SNP	0.919	T
ZNF682	91120	genome.wustl.edu	37	19	20117675	20117675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:20117675C>T	ENST00000397165.2	-	4	796	c.636G>A	c.(634-636)tgG>tgA	p.W212*	ZNF682_ENST00000397162.1_Nonsense_Mutation_p.W180*|ZNF682_ENST00000595736.1_Nonsense_Mutation_p.W136*|ZNF682_ENST00000597972.1_Nonsense_Mutation_p.W218*|ZNF682_ENST00000358523.5_Nonsense_Mutation_p.W180*|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	212					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(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GGTATGAGAACCACTTAAAGG	0.373																																						dbGAP											0													50.0	52.0	51.0					19																	20117675		2072	4236	6308	-	-	-	SO:0001587	stop_gained	0			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.636G>A	19.37:g.20117675C>T	ENSP00000380351:p.Trp212*		B3KU64|E9PFJ5|Q96JV9	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.W212*	ENST00000397165.2	37	c.636	CCDS42533.1	19	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436053	0.62955	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	.	.	.	1.08	-0.574	0.11738	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	4.1114	0.10060	0.0:0.4947:0.0:0.5053	.	.	.	.	X	212;180;180	.	ENSP00000351324:W180X	W	-	3	0	ZNF682	19978675	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.934000	0.01552	-0.354000	0.08212	-0.350000	0.07774	TGG	ZNF682	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197124		0.373	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF682	HGNC	protein_coding	OTTHUMT00000462888.1	69	0.00	0	C	NM_033196		20117675	20117675	-1	no_errors	ENST00000397165	ensembl	human	known	69_37n	nonsense	81	48.08	75	SNP	0.000	T
ZNF705A	440077	genome.wustl.edu	37	12	8327888	8327888	+	Silent	SNP	A	A	G	rs184908955	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr12:8327888A>G	ENST00000359286.4	+	3	293	c.204A>G	c.(202-204)gaA>gaG	p.E68E		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	68	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)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGCGGGAAGGAAGAGAAT	0.408																																						dbGAP											0													5.0	5.0	5.0					12																	8327888		1252	2166	3418	-	-	-	SO:0001819	synonymous_variant	0			AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.204A>G	12.37:g.8327888A>G				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.E68	ENST00000359286.4	37	c.204	CCDS31737.1	12																																																																																			ZNF705A	-	pfscan_Krueppel-associated_box	ENSG00000196946		0.408	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705A	HGNC	protein_coding	OTTHUMT00000400449.1	160	0.00	0	A	NM_001004328		8327888	8327888	+1	no_errors	ENST00000359286	ensembl	human	known	69_37n	silent	153	26.44	55	SNP	0.003	G
ZNF717	100131827	genome.wustl.edu	37	3	75786293	75786293	+	Silent	SNP	T	T	G	rs371011335	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr3:75786293T>G	ENST00000478296.1	-	4	2607	c.2331A>C	c.(2329-2331)tcA>tcC	p.S777S	ZNF717_ENST00000400845.3_Silent_p.S820S|ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_Silent_p.S827S|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	817					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(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CAAAGAGTTTTGACTTCTGGG	0.398													t|||	276	0.0551118	0.0915	0.036	5008	,	,		10688	0.0		0.0288	False		,,,				2504	0.1033					dbGAP											0													3.0	2.0	3.0					3																	75786293		346	672	1018	-	-	-	SO:0001819	synonymous_variant	0			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2331A>C	3.37:g.75786293T>G				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.S827	ENST00000478296.1	37	c.2481		3																																																																																			ZNF717	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000227124		0.398	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352764.2	22	0.00	0	T	NM_001128223		75786293	75786293	-1	no_errors	ENST00000422325	ensembl	human	known	69_37n	silent	34	48.48	32	SNP	0.002	G
ZNF730	100129543	genome.wustl.edu	37	19	23328432	23328432	+	Missense_Mutation	SNP	A	A	G	rs61744908	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:23328432A>G	ENST00000597761.2	+	4	785	c.586A>G	c.(586-588)Act>Gct	p.T196A		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	196					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						AAAAATTCATACTGGAGAGAA	0.303													.|||	132	0.0263578	0.0174	0.0375	5008	,	,		18305	0.001		0.0537	False		,,,				2504	0.0286					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.586A>G	19.37:g.23328432A>G	ENSP00000472959:p.Thr196Ala			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.T196A	ENST00000597761.2	37	c.586	CCDS59371.1	19	69	0.03159340659340659	14	0.028455284552845527	18	0.049723756906077346	0	0.0	37	0.048812664907651716	a	8.917	0.960055	0.18507	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.917	0.917	0.19380	.	.	.	.	.	T	0.10508	0.0257	M	0.64676	1.99	0.27840	N	0.941157	.	.	.	.	.	.	T	0.17653	-1.0362	6	0.56958	D	0.05	.	5.5988	0.17341	1.0:0.0:0.0:0.0	rs61744908	.	.	.	A	196	.	ENSP00000329365:T196A	T	+	1	0	ZNF730	23120272	0.984000	0.35163	0.017000	0.16124	0.017000	0.09413	4.213000	0.58520	0.258000	0.21686	0.255000	0.18592	ACT	ZNF730	-	pfscan_Znf_C2H2	ENSG00000183850		0.303	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	101	0.00	0	A	XM_001719792		23328432	23328432	+1	no_errors	ENST00000327867	ensembl	human	known	69_37n	missense	25	47.92	23	SNP	1.000	G
ZNF750	79755	genome.wustl.edu	37	17	80788620	80788620	+	Silent	SNP	G	G	A			TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr17:80788620G>A	ENST00000269394.3	-	3	2403	c.1570C>T	c.(1570-1572)Ctg>Ttg	p.L524L	ZNF750_ENST00000572562.1_Silent_p.L125L|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	524					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGCTGCCAGGTTTATCTCT	0.627																																						dbGAP											0													38.0	44.0	42.0					17																	80788620		2188	4242	6430	-	-	-	SO:0001819	synonymous_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1570C>T	17.37:g.80788620G>A			Q9H899	Silent	SNP	NULL	p.L524	ENST00000269394.3	37	c.1570	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	25	0.00	0	G	NM_024702		80788620	80788620	-1	no_errors	ENST00000269394	ensembl	human	known	69_37n	silent	9	65.38	17	SNP	0.000	A
ZNF812	729648	genome.wustl.edu	37	19	9801726	9801726	+	Missense_Mutation	SNP	A	A	C	rs186082248	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:9801726A>C	ENST00000457674.2	-	5	971	c.453T>G	c.(451-453)gaT>gaG	p.D151E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						GTGCAGCAAGATCTGGAGTTA	0.388													.|||	8	0.00159744	0.0	0.0043	5008	,	,		21640	0.0		0.004	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.453T>G	19.37:g.9801726A>C	ENSP00000395629:p.Asp151Glu			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.D151E	ENST00000457674.2	37	c.453	CCDS54215.1	19	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	a	0.009	-1.847095	0.00568	.	.	ENSG00000224689	ENST00000457674	T	0.27890	1.64	1.18	0.0147	0.14101	.	.	.	.	.	T	0.11879	0.0289	L	0.35288	1.05	0.09310	N	1	B	0.27264	0.173	B	0.20767	0.031	T	0.25257	-1.0137	9	0.21540	T	0.41	.	2.6399	0.04968	0.5884:0.0:0.1827:0.2288	.	151	P0C7V5	ZN812_HUMAN	E	151	ENSP00000395629:D151E	ENSP00000395629:D151E	D	-	3	2	ZNF812	9662726	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-3.044000	0.00631	-0.553000	0.06158	-1.120000	0.02017	GAT	ZNF812	-	NULL	ENSG00000224689		0.388	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	88	0.00	0	A			9801726	9801726	-1	no_errors	ENST00000457674	ensembl	human	known	69_37n	missense	70	54.25	83	SNP	0.000	C
ZNF812	729648	genome.wustl.edu	37	19	9801832	9801832	+	Missense_Mutation	SNP	C	C	T	rs62105698	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:9801832C>T	ENST00000457674.2	-	5	865	c.347G>A	c.(346-348)gGt>gAt	p.G116D	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	116	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						ATAACAATTACCCTCAAAGAT	0.413													.|||	63	0.0125799	0.0023	0.0043	5008	,	,		17903	0.0		0.0229	False		,,,				2504	0.0348					dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.347G>A	19.37:g.9801832C>T	ENSP00000395629:p.Gly116Asp			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.G116D	ENST00000457674.2	37	c.347	CCDS54215.1	19	23	0.010531135531135532	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	19	0.025065963060686015	c	3.801	-0.041770	0.07452	.	.	ENSG00000224689	ENST00000457674	T	0.29142	1.58	1.42	-2.83	0.05769	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16217	-1.0410	9	0.87932	D	0	.	8.3422	0.32249	0.0:0.6191:0.0:0.3809	rs62105698	116	P0C7V5	ZN812_HUMAN	D	116	ENSP00000395629:G116D	ENSP00000395629:G116D	G	-	2	0	ZNF812	9662832	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.181000	0.09740	-1.434000	0.01975	-1.076000	0.02234	GGT	ZNF812	-	pfscan_Krueppel-associated_box	ENSG00000224689		0.413	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	96	0.00	0	C			9801832	9801832	-1	no_errors	ENST00000457674	ensembl	human	known	69_37n	missense	75	43.61	58	SNP	0.000	T
ZNF813	126017	genome.wustl.edu	37	19	53989945	53989945	+	Silent	SNP	G	G	A	rs34008652	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:53989945G>A	ENST00000396403.4	+	3	203	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF813_ENST00000396421.4_Silent_p.L25L	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	25	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)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGAAATGCCTGGACCCTGCTC	0.473																																						dbGAP											0													59.0	65.0	63.0					19																	53989945		2192	4259	6451	-	-	-	SO:0001819	synonymous_variant	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.75G>A	19.37:g.53989945G>A				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.L25	ENST00000396403.4	37	c.75	CCDS46172.1	19																																																																																			ZNF813	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198346		0.473	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	57	0.00	0	G	NM_001004301		53989945	53989945	+1	no_errors	ENST00000396403	ensembl	human	known	69_37n	silent	185	43.60	143	SNP	0.521	A
ZNF853	54753	genome.wustl.edu	37	7	6656897	6656897	+	Missense_Mutation	SNP	A	A	G	rs1806552	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr7:6656897A>G	ENST00000457543.3	+	2	647	c.89A>G	c.(88-90)cAa>cGa	p.Q30R		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	30			Q -> R (in dbSNP:rs1806552). {ECO:0000269|Ref.2}.				metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						CTGGAACTTCAATGTCTTGAG	0.622													G|||	3865	0.771765	0.9274	0.6931	5008	,	,		18650	0.7609		0.5437	False		,,,				2504	0.863					dbGAP											0													39.0	46.0	44.0					7																	6656897		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.89A>G	7.37:g.6656897A>G	ENSP00000455585:p.Gln30Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q30R	ENST00000457543.3	37	c.89	CCDS59048.1	7																																																																																			ZNF853	-	NULL	ENSG00000236609		0.622	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF853	HGNC	protein_coding	OTTHUMT00000324169.2	53	0.00	0	A	NM_017560		6656897	6656897	+1	no_errors	ENST00000457543	ensembl	human	known	69_37n	missense	0	100.00	11	SNP	0.142	G
ZNF98	148198	genome.wustl.edu	37	19	22575777	22575777	+	Missense_Mutation	SNP	T	T	C	rs200167484	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:22575777T>C	ENST00000357774.5	-	4	381	c.260A>G	c.(259-261)tAt>tGt	p.Y87C		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	87					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(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AAAATAAGAATATACAACTGA	0.274																																						dbGAP											0													22.0	18.0	20.0					19																	22575777		1824	4100	5924	-	-	-	SO:0001583	missense	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.260A>G	19.37:g.22575777T>C	ENSP00000350418:p.Tyr87Cys			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.Y87C	ENST00000357774.5	37	c.260	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.067335	0.00036	.	.	ENSG00000197360	ENST00000357774	T	0.06371	3.31	1.63	-1.74	0.08056	.	.	.	.	.	T	0.01800	0.0057	N	0.01464	-0.85	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43065	-0.9414	9	0.14252	T	0.57	.	3.4345	0.07441	0.0:0.4227:0.2165:0.3608	.	87	A6NK75	ZNF98_HUMAN	C	87	ENSP00000350418:Y87C	ENSP00000350418:Y87C	Y	-	2	0	ZNF98	22367617	0.007000	0.16637	0.011000	0.14972	0.027000	0.11550	-0.524000	0.06222	-1.771000	0.01293	-2.179000	0.00317	TAT	ZNF98	-	NULL	ENSG00000197360		0.274	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	49	0.00	0	T	NM_001098626		22575777	22575777	-1	no_errors	ENST00000357774	ensembl	human	known	69_37n	missense	113	15.67	21	SNP	0.004	C
ZNF880	400713	genome.wustl.edu	37	19	52888048	52888048	+	Silent	SNP	G	G	A	rs324124	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:52888048G>A	ENST00000422689.2	+	4	1230	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	405					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ACACGGGAGAGCAACCTTACA	0.403													G|||	772	0.154153	0.2526	0.1124	5008	,	,		20761	0.1468		0.1421	False		,,,				2504	0.0706					dbGAP											0													69.0	63.0	65.0					19																	52888048		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1215G>A	19.37:g.52888048G>A			B4DNA6	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.E405	ENST00000422689.2	37	c.1215	CCDS46164.1	19																																																																																			ZNF880	-	pfscan_Znf_C2H2	ENSG00000221923		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	92	0.00	0	G	NM_001145434		52888048	52888048	+1	no_errors	ENST00000422689	ensembl	human	known	69_37n	silent	70	47.76	64	SNP	1.000	A
DDX27	55661	genome.wustl.edu	37	20	47855655	47855655	+	Intron	SNP	G	G	T	rs79925479	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr20:47855655G>T	ENST00000371764.4	+	15	1896				DDX27_ENST00000484427.1_Intron|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S1203R|ZNFX1_ENST00000469991.1_5'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGCATCCCTGCTGGTGCTGC	0.567													G|||	106	0.0211661	0.0023	0.0274	5008	,	,		16644	0.0		0.0656	False		,,,				2504	0.0184					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1887+63G>T	20.37:g.47855655G>T			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1203R	ENST00000371764.4	37	c.3609	CCDS13416.1	20	57	0.0260989010989011	1	0.0020325203252032522	11	0.03038674033149171	0	0.0	45	0.059366754617414245	G	8.612	0.889388	0.17540	.	.	ENSG00000124201	ENST00000371754	D	0.84660	-1.88	3.71	0.568	0.17333	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.56068	-0.8040	6	0.46703	T	0.11	.	4.8446	0.13507	0.1064:0.0:0.5625:0.3311	.	.	.	.	R	1203	ENSP00000360819:S1203R	ENSP00000360819:S1203R	S	-	3	2	ZNFX1	47289062	.	.	0.000000	0.03702	0.041000	0.13682	.	.	0.155000	0.19261	0.655000	0.94253	AGC	ZNFX1	-	NULL	ENSG00000124201		0.567	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000080485.1	29	0.00	0	G			47855655	47855655	-1	no_errors	ENST00000371754	ensembl	human	known	69_37n	missense	28	40.43	19	SNP	0.000	T
ZSCAN5C	649137	genome.wustl.edu	37	19	56719903	56719903	+	Missense_Mutation	SNP	C	C	G	rs112388036	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:56719903C>G	ENST00000534327.1	+	5	974	c.825C>G	c.(823-825)tgC>tgG	p.C275W	ZSCAN5C_ENST00000376267.1_Missense_Mutation_p.C275W			A6NGD5	ZSA5C_HUMAN	zinc finger and SCAN domain containing 5C	275					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)			central_nervous_system(1)|lung(6)|stomach(1)	8						CTTCTGCCTGCGTTGTGGAGA	0.542													C|||	38	0.00758786	0.028	0.0014	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0					19q13.43	2013-01-08			ENSG00000204532	ENSG00000204532		"""-"", ""Zinc fingers, C2H2-type"""	34294	protein-coding gene	gene with protein product							Standard	NG_012782		Approved	ZNF495C		A6NGD5	OTTHUMG00000167475	ENST00000534327.1:c.825C>G	19.37:g.56719903C>G	ENSP00000435234:p.Cys275Trp			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.C275W	ENST00000534327.1	37	c.825		19	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	C	12.11	1.838304	0.32513	.	.	ENSG00000204532	ENST00000534327;ENST00000376267	T;T	0.06218	3.33;3.33	1.29	-1.15	0.09709	.	.	.	.	.	T	0.02012	0.0063	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38457	-0.9660	6	0.51188	T	0.08	.	5.3253	0.15903	0.0:0.615:0.0:0.385	.	.	.	.	W	275	ENSP00000435234:C275W;ENSP00000365443:C275W	ENSP00000365443:C275W	C	+	3	2	ZSCAN5C	61411715	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	-0.173000	0.09854	-0.270000	0.09285	0.195000	0.17529	TGC	ZSCAN5C	-	NULL	ENSG00000204532		0.542	ZSCAN5C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ZSCAN5C	HGNC	protein_coding	OTTHUMT00000394739.1	89	0.00	0	C	XM_001131980		56719903	56719903	+1	no_errors	ENST00000376267	ensembl	human	known	69_37n	missense	51	39.29	33	SNP	0.004	G
ZSCAN5C	649137	genome.wustl.edu	37	19	56720302	56720302	+	Silent	SNP	C	C	T	rs146341006	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr19:56720302C>T	ENST00000534327.1	+	5	1373	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G	ZSCAN5C_ENST00000376267.1_Silent_p.G408G			A6NGD5	ZSA5C_HUMAN	zinc finger and SCAN domain containing 5C	408					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)			central_nervous_system(1)|lung(6)|stomach(1)	8						CCCACACTGGCGAGAGGCCCT	0.542													C|||	59	0.0117812	0.0431	0.0029	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					19q13.43	2013-01-08			ENSG00000204532	ENSG00000204532		"""-"", ""Zinc fingers, C2H2-type"""	34294	protein-coding gene	gene with protein product							Standard	NG_012782		Approved	ZNF495C		A6NGD5	OTTHUMG00000167475	ENST00000534327.1:c.1224C>T	19.37:g.56720302C>T				Silent	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.G408	ENST00000534327.1	37	c.1224		19																																																																																			ZSCAN5C	-	pfscan_Znf_C2H2	ENSG00000204532		0.542	ZSCAN5C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ZSCAN5C	HGNC	protein_coding	OTTHUMT00000394739.1	58	0.00	0	C	XM_001131980		56720302	56720302	+1	no_errors	ENST00000376267	ensembl	human	known	69_37n	silent	27	44.90	22	SNP	0.571	T
ZYG11A	440590	genome.wustl.edu	37	1	53320274	53320274	+	Missense_Mutation	SNP	G	G	T	rs480299	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	g.chr1:53320274G>T	ENST00000371528.1	+	2	376	c.228G>T	c.(226-228)gaG>gaT	p.E76D	ZYG11A_ENST00000371532.1_5'UTR	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	76										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						AAGTAGCCGAGCGATTTCTCA	0.438													T|||	2951	0.589257	0.8979	0.4424	5008	,	,		19841	0.2292		0.6461	False		,,,				2504	0.589					dbGAP											0													127.0	119.0	121.0					1																	53320274		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.228G>T	1.37:g.53320274G>T	ENSP00000360583:p.Glu76Asp		A6NCK5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E76D	ENST00000371528.1	37	c.228	CCDS44148.1	1	1262	0.5778388278388278	431	0.8760162601626016	183	0.505524861878453	160	0.27972027972027974	488	0.6437994722955145	T	0.093	-1.163433	0.01673	.	.	ENSG00000203995	ENST00000371528	T	0.38887	1.11	5.4	0.36	0.16097	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.02539	-0.55	0.54753	P	1.3000000000040757E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	9	0.02654	T	1	-2.953	5.3962	0.16271	0.0:0.2649:0.2522:0.4829	rs480299;rs17192606;rs56637852;rs57065373;rs480299	76	Q6WRX3	ZY11A_HUMAN	D	76	ENSP00000360583:E76D	ENSP00000360583:E76D	E	+	3	2	ZYG11A	53092862	0.992000	0.36948	0.773000	0.31616	0.153000	0.21895	0.233000	0.17911	-0.382000	0.07870	-0.335000	0.08231	GAG	ZYG11A	-	NULL	ENSG00000203995		0.438	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3	89	0.00	0	G	NM_001004339		53320274	53320274	+1	no_errors	ENST00000371528	ensembl	human	known	69_37n	missense	78	50.32	79	SNP	0.997	T
ZZEF1	23140	genome.wustl.edu	37	17	4017735	4017735	+	Missense_Mutation	SNP	C	C	G	rs546462540	byFrequency	TCGA-AO-A12E-01A-11D-A10M-09	TCGA-AO-A12E-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b3990b59-e2f4-4759-8eb0-11ad3c34ac50	6158f7a6-f20f-48ec-ae6d-657f09f9a6f0	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		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	52	0.00	0	C	NM_015113		4017735	4017735	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	91	60.09	137	SNP	1.000	G
