#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
ABCA7	10347	genome.wustl.edu	37	19	1041509	1041509	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:1041509G>A	ENST00000263094.6	+	3	298	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Splice_Site_p.V23I|AC011558.5_ENST00000585757.1_RNA	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	23					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCCCCAGGTCCAGCTCCT	0.647																																						dbGAP											0													104.0	106.0	106.0					19																	1041509		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.67-1G>A	19.37:g.1041509G>A			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V23I	ENST00000263094.6	37	c.67	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	2.761	-0.257891	0.05791	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000433129	D;D;D	0.89196	-2.48;-2.48;-2.48	4.78	-7.17	0.01511	.	.	.	.	.	T	0.72153	0.3425	N	0.05351	-0.065	0.24615	N	0.993705	B;B	0.12630	0.006;0.0	B;B	0.12156	0.007;0.001	T	0.59359	-0.7469	8	.	.	.	.	10.4189	0.44338	0.1967:0.2236:0.5798:0.0	.	23;23	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	I	23	ENSP00000263094:V23I;ENSP00000431473:V23I;ENSP00000414062:V23I	.	V	+	1	0	ABCA7	992509	0.002000	0.14202	0.923000	0.36655	0.407000	0.30961	-1.368000	0.02580	-1.433000	0.01977	-0.300000	0.09419	GTC	ABCA7	-	NULL	ENSG00000064687		0.647	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	100	0.00	0	G	NM_019112	Missense_Mutation	1041509	1041509	+1	no_errors	ENST00000263094	ensembl	human	known	69_37n	missense	79	39.23	51	SNP	0.679	A
ACRBP	84519	genome.wustl.edu	37	12	6753326	6753326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr12:6753326G>T	ENST00000229243.2	-	5	1014	c.921C>A	c.(919-921)taC>taA	p.Y307*	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Y274*|ACRBP_ENST00000536350.1_Nonsense_Mutation_p.Y307*	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGTTTCTCCAGTAGGAGTTCT	0.443																																						dbGAP											0													77.0	79.0	78.0					12																	6753326		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.921C>A	12.37:g.6753326G>T	ENSP00000229243:p.Tyr307*			Nonsense_Mutation	SNP	pfam_Proacrosin-bd	p.Y307*	ENST00000229243.2	37	c.921	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905269	0.72868	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	.	.	.	3.75	3.75	0.43078	.	1.362050	0.04885	N	0.448515	.	.	.	.	.	.	0.50313	D	0.99986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.423	11.2507	0.49024	0.0:0.0:1.0:0.0	.	.	.	.	X	307;274;307	.	ENSP00000229243:Y307X	Y	-	3	2	ACRBP	6623587	0.542000	0.26426	0.697000	0.30258	0.230000	0.25150	0.844000	0.27654	2.091000	0.63221	0.561000	0.74099	TAC	ACRBP	-	NULL	ENSG00000111644		0.443	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	62	0.00	0	G	NM_032489		6753326	6753326	-1	no_errors	ENST00000229243	ensembl	human	known	69_37n	nonsense	30	45.45	25	SNP	0.893	T
ACRBP	84519	genome.wustl.edu	37	12	6753326	6753326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr12:6753326G>T	ENST00000229243.2	-	5	1014	c.921C>A	c.(919-921)taC>taA	p.Y307*	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.Y274*|ACRBP_ENST00000536350.1_Nonsense_Mutation_p.Y307*	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGTTTCTCCAGTAGGAGTTCT	0.443																																						dbGAP											0													77.0	79.0	78.0					12																	6753326		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.921C>A	12.37:g.6753326G>T	ENSP00000229243:p.Tyr307*			Nonsense_Mutation	SNP	pfam_Proacrosin-bd	p.Y307*	ENST00000229243.2	37	c.921	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905269	0.72868	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	.	.	.	3.75	3.75	0.43078	.	1.362050	0.04885	N	0.448515	.	.	.	.	.	.	0.50313	D	0.99986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.423	11.2507	0.49024	0.0:0.0:1.0:0.0	.	.	.	.	X	307;274;307	.	ENSP00000229243:Y307X	Y	-	3	2	ACRBP	6623587	0.542000	0.26426	0.697000	0.30258	0.230000	0.25150	0.844000	0.27654	2.091000	0.63221	0.561000	0.74099	TAC	ACRBP	-	NULL	ENSG00000111644		0.443	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	57	0.00	0	G	NM_032489		6753326	6753326	-1	no_errors	ENST00000229243	ensembl	human	known	69_37n	nonsense	30	45.45	25	SNP	0.893	T
AGBL3	340351	genome.wustl.edu	37	7	134800290	134800290	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr7:134800290A>G	ENST00000436302.2	+	16	2522	c.2269A>G	c.(2269-2271)Agc>Ggc	p.S757G	C7orf49_ENST00000459937.1_Intron|AGBL3_ENST00000435976.2_Intron|AGBL3_ENST00000458078.1_Missense_Mutation_p.S812G	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	838						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						CATCGTGCATAGCACTAAAAA	0.353																																						dbGAP											0													146.0	118.0	127.0					7																	134800290		692	1591	2283	-	-	-	SO:0001583	missense	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.2269A>G	7.37:g.134800290A>G	ENSP00000388275:p.Ser757Gly		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.S812G	ENST00000436302.2	37	c.2434	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767810	0.49574	.	.	ENSG00000146856	ENST00000436302;ENST00000458078	T;T	0.19669	2.55;2.13	5.12	3.94	0.45596	.	.	.	.	.	T	0.17577	0.0422	L	0.39898	1.24	0.09310	N	0.999995	B	0.25809	0.135	B	0.25291	0.059	T	0.17198	-1.0377	9	0.45353	T	0.12	-2.3618	7.9929	0.30250	0.8112:0.0:0.0:0.1888	.	757	Q8NEM8-4	.	G	757;812	ENSP00000388275:S757G;ENSP00000395969:S812G	ENSP00000388275:S757G	S	+	1	0	AGBL3	134450830	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	1.550000	0.36223	1.034000	0.39945	0.460000	0.39030	AGC	AGBL3	-	NULL	ENSG00000146856		0.353	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	221	0.00	0	A	NM_178563		134800290	134800290	+1	no_errors	ENST00000458078	ensembl	human	known	69_37n	missense	54	42.55	40	SNP	0.002	G
AGBL3	340351	genome.wustl.edu	37	7	134800290	134800290	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr7:134800290A>G	ENST00000436302.2	+	16	2522	c.2269A>G	c.(2269-2271)Agc>Ggc	p.S757G	C7orf49_ENST00000459937.1_Intron|AGBL3_ENST00000435976.2_Intron|AGBL3_ENST00000458078.1_Missense_Mutation_p.S812G	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	838						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						CATCGTGCATAGCACTAAAAA	0.353																																						dbGAP											0													146.0	118.0	127.0					7																	134800290		692	1591	2283	-	-	-	SO:0001583	missense	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.2269A>G	7.37:g.134800290A>G	ENSP00000388275:p.Ser757Gly		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.S812G	ENST00000436302.2	37	c.2434	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767810	0.49574	.	.	ENSG00000146856	ENST00000436302;ENST00000458078	T;T	0.19669	2.55;2.13	5.12	3.94	0.45596	.	.	.	.	.	T	0.17577	0.0422	L	0.39898	1.24	0.09310	N	0.999995	B	0.25809	0.135	B	0.25291	0.059	T	0.17198	-1.0377	9	0.45353	T	0.12	-2.3618	7.9929	0.30250	0.8112:0.0:0.0:0.1888	.	757	Q8NEM8-4	.	G	757;812	ENSP00000388275:S757G;ENSP00000395969:S812G	ENSP00000388275:S757G	S	+	1	0	AGBL3	134450830	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	1.550000	0.36223	1.034000	0.39945	0.460000	0.39030	AGC	AGBL3	-	NULL	ENSG00000146856		0.353	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	101	0.98	1	A	NM_178563		134800290	134800290	+1	no_errors	ENST00000458078	ensembl	human	known	69_37n	missense	54	42.55	40	SNP	0.002	G
AGPAT5	55326	genome.wustl.edu	37	8	6590094	6590097	+	Frame_Shift_Del	DEL	TATG	TATG	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	TATG	TATG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr8:6590094_6590097delTATG	ENST00000285518.6	+	4	730_733	c.418_421delTATG	c.(418-423)tatgtafs	p.YV140fs		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	140					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TGGAGGAATCTATGTAAAGCGCAG	0.407																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.418_421delTATG	8.37:g.6590094_6590097delTATG	ENSP00000285518:p.Tyr140fs		Q8IZ47|Q9BQG4	Frame_Shift_Del	DEL	pfam_Acyltransferase,smart_Acyltransferase	p.Y140fs	ENST00000285518.6	37	c.418_421	CCDS34796.1	8																																																																																			AGPAT5	-	pfam_Acyltransferase,smart_Acyltransferase	ENSG00000155189		0.407	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT5	HGNC	protein_coding	OTTHUMT00000374684.1	114	0.00	0	TATG	NM_018361		6590094	6590097	+1	no_errors	ENST00000285518	ensembl	human	known	69_37n	frame_shift_del	52	41.11	37	DEL	1.000:1.000:0.996:1.000	-
AHDC1	27245	genome.wustl.edu	37	1	27876098	27876098	+	Silent	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr1:27876098C>A	ENST00000247087.5	-	5	3125	c.2529G>T	c.(2527-2529)ctG>ctT	p.L843L	AHDC1_ENST00000374011.2_Silent_p.L843L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	843							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGAATCGAGCAGCGAGCGAA	0.632																																						dbGAP											0													45.0	50.0	48.0					1																	27876098		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2529G>T	1.37:g.27876098C>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.L843	ENST00000247087.5	37	c.2529	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.632	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	9	0.00	0	C			27876098	27876098	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	1.000	A
ANKAR	150709	genome.wustl.edu	37	2	190611205	190611206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:190611205_190611206insA	ENST00000520309.1	+	23	4245_4246	c.4157_4158insA	c.(4156-4161)acaaaafs	p.TK1386fs	ANKAR_ENST00000431575.2_Frame_Shift_Ins_p.TK1315fs|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Frame_Shift_Ins_p.TK1386fs|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1386						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTCAAAGCAACAAAAAAGACCA	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4163dupA	2.37:g.190611211_190611211dupA	ENSP00000427882:p.Thr1386fs		Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Ins	INS	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.T1389fs	ENST00000520309.1	37	c.4157_4158	CCDS33351.2	2																																																																																			ANKAR	-	NULL	ENSG00000151687		0.332	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	196	0.00	0	-	NM_144708		190611205	190611206	+1	no_errors	ENST00000313581	ensembl	human	known	69_37n	frame_shift_ins	64	29.67	27	INS	0.056:0.047	A
APOBEC2	10930	genome.wustl.edu	37	6	41029073	41029073	+	Silent	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr6:41029073G>T	ENST00000244669.2	+	2	182	c.138G>T	c.(136-138)cgG>cgT	p.R46R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	46					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACAGAGAACGGCTGCCTGCCA	0.478																																					Ovarian(118;1320 2185 8096 29684)	dbGAP											0													76.0	74.0	75.0					6																	41029073		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.138G>T	6.37:g.41029073G>T			B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R46	ENST00000244669.2	37	c.138	CCDS4848.1	6																																																																																			APOBEC2	-	pfam_APOBEC_N	ENSG00000124701		0.478	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC2	HGNC	protein_coding	OTTHUMT00000040498.1	103	0.00	0	G	NM_006789		41029073	41029073	+1	no_errors	ENST00000244669	ensembl	human	known	69_37n	silent	64	41.28	45	SNP	0.998	T
APOBEC2	10930	genome.wustl.edu	37	6	41029073	41029073	+	Silent	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr6:41029073G>T	ENST00000244669.2	+	2	182	c.138G>T	c.(136-138)cgG>cgT	p.R46R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	46					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACAGAGAACGGCTGCCTGCCA	0.478																																					Ovarian(118;1320 2185 8096 29684)	dbGAP											0													76.0	74.0	75.0					6																	41029073		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.138G>T	6.37:g.41029073G>T			B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R46	ENST00000244669.2	37	c.138	CCDS4848.1	6																																																																																			APOBEC2	-	pfam_APOBEC_N	ENSG00000124701		0.478	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC2	HGNC	protein_coding	OTTHUMT00000040498.1	88	0.00	0	G	NM_006789		41029073	41029073	+1	no_errors	ENST00000244669	ensembl	human	known	69_37n	silent	64	41.28	45	SNP	0.998	T
ARHGAP23	57636	genome.wustl.edu	37	17	36623524	36623524	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:36623524G>T	ENST00000431231.2	+	7	1668	c.1600G>T	c.(1600-1602)Gcc>Tcc	p.A534S	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.A440S|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.A534S	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	534					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CAGGAAGGTGGCCCCTTTGGC	0.597																																						dbGAP											0													54.0	53.0	53.0					17																	36623524		692	1591	2283	-	-	-	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1600G>T	17.37:g.36623524G>T	ENSP00000393539:p.Ala534Ser			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.A534S	ENST00000431231.2	37	c.1600	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342987	0.01277	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.28895	1.59;1.59;1.59	4.97	2.98	0.34508	.	0.293073	0.32015	N	0.006719	T	0.17662	0.0424	L	0.42245	1.32	0.25071	N	0.990996	B;P	0.43938	0.296;0.822	B;B	0.38264	0.068;0.269	T	0.18713	-1.0328	10	0.02654	T	1	.	6.2877	0.21043	0.1686:0.1515:0.6799:0.0	.	534;534	Q9P227;Q9P227-2	RHG23_HUMAN;.	S	534;534;440	ENSP00000394153:A534S;ENSP00000393539:A534S;ENSP00000407333:A440S	ENSP00000393539:A534S	A	+	1	0	ARHGAP23	33877050	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	1.787000	0.38704	0.522000	0.28464	-0.369000	0.07265	GCC	ARHGAP23	-	NULL	ENSG00000225485		0.597	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	26	0.00	0	G	XM_290799		36623524	36623524	+1	no_errors	ENST00000431231	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	T
ARHGAP23	57636	genome.wustl.edu	37	17	36623524	36623524	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr17:36623524G>T	ENST00000431231.2	+	7	1668	c.1600G>T	c.(1600-1602)Gcc>Tcc	p.A534S	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.A440S|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.A534S	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	534					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CAGGAAGGTGGCCCCTTTGGC	0.597																																						dbGAP											0													54.0	53.0	53.0					17																	36623524		692	1591	2283	-	-	-	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1600G>T	17.37:g.36623524G>T	ENSP00000393539:p.Ala534Ser			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.A534S	ENST00000431231.2	37	c.1600	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342987	0.01277	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.28895	1.59;1.59;1.59	4.97	2.98	0.34508	.	0.293073	0.32015	N	0.006719	T	0.17662	0.0424	L	0.42245	1.32	0.25071	N	0.990996	B;P	0.43938	0.296;0.822	B;B	0.38264	0.068;0.269	T	0.18713	-1.0328	10	0.02654	T	1	.	6.2877	0.21043	0.1686:0.1515:0.6799:0.0	.	534;534	Q9P227;Q9P227-2	RHG23_HUMAN;.	S	534;534;440	ENSP00000394153:A534S;ENSP00000393539:A534S;ENSP00000407333:A440S	ENSP00000393539:A534S	A	+	1	0	ARHGAP23	33877050	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	1.787000	0.38704	0.522000	0.28464	-0.369000	0.07265	GCC	ARHGAP23	-	NULL	ENSG00000225485		0.597	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	28	0.00	0	G	XM_290799		36623524	36623524	+1	no_errors	ENST00000431231	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	1.000	T
ATP11A	23250	genome.wustl.edu	37	13	113512489	113512489	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr13:113512489C>A	ENST00000487903.1	+	22	2640	c.2552C>A	c.(2551-2553)gCc>gAc	p.A851D	ATP11A_ENST00000375630.2_Missense_Mutation_p.A851D|ATP11A_ENST00000375645.3_Missense_Mutation_p.A851D|ATP11A_ENST00000283558.8_Missense_Mutation_p.A851D			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	851					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)				CGCCAGGCTGCCAGGAACAGC	0.512																																						dbGAP											0													112.0	107.0	109.0					13																	113512489		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.2552C>A	13.37:g.113512489C>A	ENSP00000420387:p.Ala851Asp		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.A851D	ENST00000487903.1	37	c.2552	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.080228|5.080228	0.94050|0.94050	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166|ENST00000418678	D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72|.	5.62|5.62	5.62|5.62	0.85841|0.85841	HAD-like domain (2);|.	0.101170|.	0.64402|.	D|.	0.000003|.	D|D	0.87680|0.87680	0.6238|0.6238	H|H	0.94771|0.94771	3.58|3.58	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52061|.	0.923;0.95;0.83|.	P;P;P|.	0.61070|.	0.548;0.873;0.883|.	D|D	0.90617|0.90617	0.4556|0.4556	10|5	0.87932|.	D|.	0|.	.|.	19.6614|19.6614	0.95875|0.95875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	851;851;851|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	D|T	851;851;851;851;292|826	ENSP00000420387:A851D;ENSP00000364781:A851D;ENSP00000364796:A851D;ENSP00000283558:A851D|.	ENSP00000283558:A851D|.	A|P	+|+	2|1	0|0	ATP11A|ATP11A	112560490|112560490	0.999000|0.999000	0.42202|0.42202	0.846000|0.846000	0.33378|0.33378	0.917000|0.917000	0.54804|0.54804	3.784000|3.784000	0.55416|0.55416	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GCC|CCA	ATP11A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000068650		0.512	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	220	0.00	0	C	NM_015205		113512489	113512489	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	missense	108	48.57	102	SNP	1.000	A
ATP11A	23250	genome.wustl.edu	37	13	113512489	113512489	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr13:113512489C>A	ENST00000487903.1	+	22	2640	c.2552C>A	c.(2551-2553)gCc>gAc	p.A851D	ATP11A_ENST00000375630.2_Missense_Mutation_p.A851D|ATP11A_ENST00000375645.3_Missense_Mutation_p.A851D|ATP11A_ENST00000283558.8_Missense_Mutation_p.A851D			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	851					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)				CGCCAGGCTGCCAGGAACAGC	0.512																																						dbGAP											0													112.0	107.0	109.0					13																	113512489		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.2552C>A	13.37:g.113512489C>A	ENSP00000420387:p.Ala851Asp		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.A851D	ENST00000487903.1	37	c.2552	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.080228|5.080228	0.94050|0.94050	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166|ENST00000418678	D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72|.	5.62|5.62	5.62|5.62	0.85841|0.85841	HAD-like domain (2);|.	0.101170|.	0.64402|.	D|.	0.000003|.	D|D	0.87680|0.87680	0.6238|0.6238	H|H	0.94771|0.94771	3.58|3.58	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52061|.	0.923;0.95;0.83|.	P;P;P|.	0.61070|.	0.548;0.873;0.883|.	D|D	0.90617|0.90617	0.4556|0.4556	10|5	0.87932|.	D|.	0|.	.|.	19.6614|19.6614	0.95875|0.95875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	851;851;851|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	D|T	851;851;851;851;292|826	ENSP00000420387:A851D;ENSP00000364781:A851D;ENSP00000364796:A851D;ENSP00000283558:A851D|.	ENSP00000283558:A851D|.	A|P	+|+	2|1	0|0	ATP11A|ATP11A	112560490|112560490	0.999000|0.999000	0.42202|0.42202	0.846000|0.846000	0.33378|0.33378	0.917000|0.917000	0.54804|0.54804	3.784000|3.784000	0.55416|0.55416	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GCC|CCA	ATP11A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000068650		0.512	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	170	0.00	0	C	NM_015205		113512489	113512489	+1	no_errors	ENST00000375630	ensembl	human	known	69_37n	missense	108	48.57	102	SNP	1.000	A
BAIAP3	8938	genome.wustl.edu	37	16	1394620	1394620	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr16:1394620C>T	ENST00000324385.5	+	19	1941	c.1783C>T	c.(1783-1785)Cct>Tct	p.P595S	BAIAP3_ENST00000421665.2_Missense_Mutation_p.P524S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P577S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.P537S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P560S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P577S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.P532S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	595					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ACAGCGCCTGCCTGGGCTGGT	0.637																																						dbGAP											0													172.0	188.0	183.0					16																	1394620		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1783C>T	16.37:g.1394620C>T	ENSP00000324510:p.Pro595Ser		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P595S	ENST00000324385.5	37	c.1783	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.393148	0.01185	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69685	-0.41;-0.41;-0.42;-0.41;-0.4	4.3	-2.12	0.07165	.	1.230500	0.05628	N	0.581110	T	0.49098	0.1537	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.16396	0.014;0.007;0.017;0.007	B;B;B;B	0.15484	0.013;0.009;0.009;0.009	T	0.18777	-1.0326	10	0.10636	T	0.68	-0.389	4.5411	0.12058	0.1289:0.2652:0.5038:0.102	.	524;537;595;577	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	S	560;577;595;577;524	ENSP00000407242:P560S;ENSP00000380625:P577S;ENSP00000324510:P595S;ENSP00000380626:P577S;ENSP00000409533:P524S	ENSP00000324510:P595S	P	+	1	0	BAIAP3	1334621	0.001000	0.12720	0.000000	0.03702	0.594000	0.36715	0.527000	0.22987	-0.871000	0.04042	0.491000	0.48974	CCT	BAIAP3	-	NULL	ENSG00000007516		0.637	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	35	0.00	0	C			1394620	1394620	+1	no_errors	ENST00000324385	ensembl	human	known	69_37n	missense	93	29.55	39	SNP	0.000	T
BAZ1A	11177	genome.wustl.edu	37	14	35245193	35245193	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr14:35245193A>T	ENST00000382422.2	-	17	3092	c.2765T>A	c.(2764-2766)tTg>tAg	p.L922*	BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.L890*|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.L922*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	922	Interaction with SMARCA5.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTCTTGTAACAAAGTTTCTTT	0.343																																						dbGAP											0													70.0	68.0	68.0					14																	35245193		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2765T>A	14.37:g.35245193A>T	ENSP00000371859:p.Leu922*		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L922*	ENST00000382422.2	37	c.2765	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	A	45	11.924532	0.99618	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	.	.	.	X	890;922;922;574	.	ENSP00000351555:L890X	L	-	2	0	BAZ1A	34314944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.368000	0.90115	2.195000	0.70347	0.533000	0.62120	TTG	BAZ1A	-	NULL	ENSG00000198604		0.343	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	190	0.00	0	A			35245193	35245193	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	nonsense	39	38.10	24	SNP	1.000	T
BAZ1A	11177	genome.wustl.edu	37	14	35245193	35245193	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr14:35245193A>T	ENST00000382422.2	-	17	3092	c.2765T>A	c.(2764-2766)tTg>tAg	p.L922*	BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.L890*|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.L922*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	922	Interaction with SMARCA5.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTCTTGTAACAAAGTTTCTTT	0.343																																						dbGAP											0													70.0	68.0	68.0					14																	35245193		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2765T>A	14.37:g.35245193A>T	ENSP00000371859:p.Leu922*		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L922*	ENST00000382422.2	37	c.2765	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	A	45	11.924532	0.99618	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	.	.	.	X	890;922;922;574	.	ENSP00000351555:L890X	L	-	2	0	BAZ1A	34314944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.368000	0.90115	2.195000	0.70347	0.533000	0.62120	TTG	BAZ1A	-	NULL	ENSG00000198604		0.343	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	102	0.00	0	A			35245193	35245193	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	nonsense	39	38.10	24	SNP	1.000	T
BCL9	607	genome.wustl.edu	37	1	147092549	147092550	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:147092549_147092550delTG	ENST00000234739.3	+	8	3328_3329	c.2588_2589delTG	c.(2587-2589)ctgfs	p.L863fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	863	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATTAACCCTCTGAAGTCTCCCA	0.619			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2588_2589delTG	1.37:g.147092549_147092550delTG	ENSP00000234739:p.Leu863fs		Q5T489	Frame_Shift_Del	DEL	pfam_BCL9_beta-catenin-bd_dom	p.L863fs	ENST00000234739.3	37	c.2588_2589	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.619	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	49	0.00	0	TG	NM_004326		147092549	147092550	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	frame_shift_del	92	12.38	13	DEL	1.000:1.000	-
BTBD17	388419	genome.wustl.edu	37	17	72357932	72357932	+	Silent	SNP	A	A	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:72357932A>C	ENST00000375366.3	-	1	153	c.27T>G	c.(25-27)ccT>ccG	p.P9P		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	9					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CCCAGGACCCAGGCTTGGAGT	0.642																																						dbGAP											0													75.0	55.0	62.0					17																	72357932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.27T>G	17.37:g.72357932A>C				Silent	SNP	pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P9	ENST00000375366.3	37	c.27	CCDS32719.1	17																																																																																			BTBD17	-	NULL	ENSG00000204347		0.642	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	HGNC	protein_coding	OTTHUMT00000442542.1	14	0.00	0	A	NM_001080466		72357932	72357932	-1	no_errors	ENST00000375366	ensembl	human	known	69_37n	silent	47	18.64	11	SNP	0.012	C
BTBD17	388419	genome.wustl.edu	37	17	72357932	72357932	+	Silent	SNP	A	A	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr17:72357932A>C	ENST00000375366.3	-	1	153	c.27T>G	c.(25-27)ccT>ccG	p.P9P		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	9					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CCCAGGACCCAGGCTTGGAGT	0.642																																						dbGAP											0													75.0	55.0	62.0					17																	72357932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.27T>G	17.37:g.72357932A>C				Silent	SNP	pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P9	ENST00000375366.3	37	c.27	CCDS32719.1	17																																																																																			BTBD17	-	NULL	ENSG00000204347		0.642	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	HGNC	protein_coding	OTTHUMT00000442542.1	41	0.00	0	A	NM_001080466		72357932	72357932	-1	no_errors	ENST00000375366	ensembl	human	known	69_37n	silent	47	18.64	11	SNP	0.012	C
CACNA1B	774	genome.wustl.edu	37	9	141012420	141012420	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr9:141012420A>G	ENST00000371372.1	+	43	5945	c.5800A>G	c.(5800-5802)Aaa>Gaa	p.K1934E	CACNA1B_ENST00000371357.1_Missense_Mutation_p.K1933E|CACNA1B_ENST00000277549.5_Missense_Mutation_p.K1128E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K1934E|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K1932E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K1935E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1934					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGTGGCATCAAAGAGTCTGT	0.572																																						dbGAP											0													25.0	28.0	27.0					9																	141012420		1910	4130	6040	-	-	-	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5800A>G	9.37:g.141012420A>G	ENSP00000360423:p.Lys1934Glu		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.K1935E	ENST00000371372.1	37	c.5803	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340317	0.60963	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97114	-4.01;-4.0;-4.25;-4.0;-3.99;-3.99	3.94	3.94	0.45596	.	4.420600	0.00424	N	0.000069	D	0.95686	0.8597	L	0.54323	1.7	0.50039	D	0.999842	B;B	0.21520	0.057;0.057	B;B	0.24006	0.05;0.032	T	0.77608	-0.2524	10	0.13470	T	0.59	.	11.2172	0.48833	1.0:0.0:0.0:0.0	.	1933;1932	B1AQK7;B1AQK6	.;.	E	1934;1934;1128;1932;1933;1935	ENSP00000360423:K1934E;ENSP00000277551:K1934E;ENSP00000277549:K1128E;ENSP00000360414:K1932E;ENSP00000360408:K1933E;ENSP00000360406:K1935E	ENSP00000277549:K1128E	K	+	1	0	CACNA1B	140132241	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.127000	0.64727	1.658000	0.50742	0.459000	0.35465	AAA	CACNA1B	-	NULL	ENSG00000148408		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	24	0.00	0	A	NM_000718		141012420	141012420	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	G
CACNA1B	774	genome.wustl.edu	37	9	141012420	141012420	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr9:141012420A>G	ENST00000371372.1	+	43	5945	c.5800A>G	c.(5800-5802)Aaa>Gaa	p.K1934E	CACNA1B_ENST00000371357.1_Missense_Mutation_p.K1933E|CACNA1B_ENST00000277549.5_Missense_Mutation_p.K1128E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K1934E|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K1932E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K1935E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1934					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGTGGCATCAAAGAGTCTGT	0.572																																						dbGAP											0													25.0	28.0	27.0					9																	141012420		1910	4130	6040	-	-	-	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5800A>G	9.37:g.141012420A>G	ENSP00000360423:p.Lys1934Glu		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.K1935E	ENST00000371372.1	37	c.5803	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340317	0.60963	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97114	-4.01;-4.0;-4.25;-4.0;-3.99;-3.99	3.94	3.94	0.45596	.	4.420600	0.00424	N	0.000069	D	0.95686	0.8597	L	0.54323	1.7	0.50039	D	0.999842	B;B	0.21520	0.057;0.057	B;B	0.24006	0.05;0.032	T	0.77608	-0.2524	10	0.13470	T	0.59	.	11.2172	0.48833	1.0:0.0:0.0:0.0	.	1933;1932	B1AQK7;B1AQK6	.;.	E	1934;1934;1128;1932;1933;1935	ENSP00000360423:K1934E;ENSP00000277551:K1934E;ENSP00000277549:K1128E;ENSP00000360414:K1932E;ENSP00000360408:K1933E;ENSP00000360406:K1935E	ENSP00000277549:K1128E	K	+	1	0	CACNA1B	140132241	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.127000	0.64727	1.658000	0.50742	0.459000	0.35465	AAA	CACNA1B	-	NULL	ENSG00000148408		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	25	0.00	0	A	NM_000718		141012420	141012420	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	G
CACNA1I	8911	genome.wustl.edu	37	22	40066845	40066845	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr22:40066845C>G	ENST00000402142.3	+	26	4425	c.4425C>G	c.(4423-4425)caC>caG	p.H1475Q	CACNA1I_ENST00000336649.4_Missense_Mutation_p.H1481Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H1475Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H1440Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H1440Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H1440Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1475					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTATTGTCACACCCGGCTGC	0.587																																						dbGAP											0													131.0	144.0	140.0					22																	40066845		2175	4261	6436	-	-	-	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4425C>G	22.37:g.40066845C>G	ENSP00000385019:p.His1475Gln		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.H1481Q	ENST00000402142.3	37	c.4443	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006319	0.19199	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96651	-4.06;-4.02;-4.06;-4.03;-4.08;-3.99	3.88	1.63	0.23807	.	0.362705	0.26282	N	0.025263	D	0.92835	0.7721	L	0.59436	1.845	0.21822	N	0.999528	B;B;B;B	0.21225	0.0;0.053;0.0;0.028	B;B;B;B	0.22386	0.001;0.039;0.002;0.036	D	0.84785	0.0775	10	0.36615	T	0.2	.	5.4996	0.16821	0.0:0.597:0.1621:0.2409	.	1440;1475;1440;1475	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1475;1440;1475;1440;1481;1440	ENSP00000385019:H1475Q;ENSP00000384093:H1440Q;ENSP00000383887:H1475Q;ENSP00000385680:H1440Q;ENSP00000337829:H1481Q;ENSP00000383028:H1440Q	ENSP00000337829:H1481Q	H	+	3	2	CACNA1I	38396791	0.004000	0.15560	1.000000	0.80357	0.994000	0.84299	-0.164000	0.09983	0.733000	0.32492	0.650000	0.86243	CAC	CACNA1I	-	NULL	ENSG00000100346		0.587	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	51	0.00	0	C	NM_001003406		40066845	40066845	+1	no_errors	ENST00000336649	ensembl	human	known	69_37n	missense	109	23.24	33	SNP	0.759	G
CAPN6	827	genome.wustl.edu	37	X	110496378	110496378	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:110496378G>A	ENST00000324068.1	-	4	531	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	122	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAACGAAAGTGAAATATCCCA	0.398																																						dbGAP											0													129.0	117.0	121.0					X																	110496378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.364C>T	X.37:g.110496378G>A	ENSP00000317214:p.His122Tyr		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.H122Y	ENST00000324068.1	37	c.364	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833950	0.71373	.	.	ENSG00000077274	ENST00000324068	D	0.88664	-2.41	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.219434	0.45867	D	0.000339	D	0.96049	0.8713	M	0.93808	3.46	0.80722	D	1	P	0.41784	0.762	P	0.59643	0.861	D	0.96289	0.9212	10	0.87932	D	0	.	19.371	0.94484	0.0:0.0:1.0:0.0	.	122	Q9Y6Q1	CAN6_HUMAN	Y	122	ENSP00000317214:H122Y	ENSP00000317214:H122Y	H	-	1	0	CAPN6	110383034	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.062000	0.89475	2.527000	0.85204	0.600000	0.82982	CAC	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.398	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	297	0.00	0	G			110496378	110496378	-1	no_errors	ENST00000324068	ensembl	human	known	69_37n	missense	152	20.42	39	SNP	1.000	A
CLDN15	24146	genome.wustl.edu	37	7	100876136	100876136	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr7:100876136C>G	ENST00000401528.1	-	4	1567	c.442G>C	c.(442-444)Gac>Cac	p.D148H	CLDN15_ENST00000308344.5_Missense_Mutation_p.D148H|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	148					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TACAAGGGGTCGAAGAAGTCC	0.682																																						dbGAP											0													50.0	46.0	48.0					7																	100876136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.442G>C	7.37:g.100876136C>G	ENSP00000385300:p.Asp148His		B3KPB5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15	p.D148H	ENST00000401528.1	37	c.442	CCDS5717.1	7	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549915	0.65311	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.54	-1.7	0.08159	.	0.331298	0.32488	N	0.006035	D	0.87752	0.6256	M	0.71920	2.185	0.33146	D	0.545066	B	0.30634	0.288	B	0.40134	0.32	D	0.83569	0.0111	10	0.87932	D	0	.	8.8831	0.35387	0.0:0.4465:0.0:0.5535	.	148	P56746	CLD15_HUMAN	H	148;148;93;125	ENSP00000308870:D148H;ENSP00000385300:D148H;ENSP00000398418:D93H;ENSP00000390230:D125H	ENSP00000308870:D148H	D	-	1	0	CLDN15	100662856	0.997000	0.39634	0.507000	0.27676	0.928000	0.56348	1.046000	0.30354	-0.797000	0.04450	0.485000	0.47835	GAC	CLDN15	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000106404		0.682	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN15	HGNC	protein_coding	OTTHUMT00000318698.1	28	0.00	0	C	NM_014343		100876136	100876136	-1	no_errors	ENST00000308344	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.994	G
CLDN15	24146	genome.wustl.edu	37	7	100876136	100876136	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr7:100876136C>G	ENST00000401528.1	-	4	1567	c.442G>C	c.(442-444)Gac>Cac	p.D148H	CLDN15_ENST00000308344.5_Missense_Mutation_p.D148H|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	148					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TACAAGGGGTCGAAGAAGTCC	0.682																																						dbGAP											0													50.0	46.0	48.0					7																	100876136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.442G>C	7.37:g.100876136C>G	ENSP00000385300:p.Asp148His		B3KPB5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15	p.D148H	ENST00000401528.1	37	c.442	CCDS5717.1	7	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549915	0.65311	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.54	-1.7	0.08159	.	0.331298	0.32488	N	0.006035	D	0.87752	0.6256	M	0.71920	2.185	0.33146	D	0.545066	B	0.30634	0.288	B	0.40134	0.32	D	0.83569	0.0111	10	0.87932	D	0	.	8.8831	0.35387	0.0:0.4465:0.0:0.5535	.	148	P56746	CLD15_HUMAN	H	148;148;93;125	ENSP00000308870:D148H;ENSP00000385300:D148H;ENSP00000398418:D93H;ENSP00000390230:D125H	ENSP00000308870:D148H	D	-	1	0	CLDN15	100662856	0.997000	0.39634	0.507000	0.27676	0.928000	0.56348	1.046000	0.30354	-0.797000	0.04450	0.485000	0.47835	GAC	CLDN15	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000106404		0.682	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN15	HGNC	protein_coding	OTTHUMT00000318698.1	13	0.00	0	C	NM_014343		100876136	100876136	-1	no_errors	ENST00000308344	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.994	G
CSMD2	114784	genome.wustl.edu	37	1	34276437	34276437	+	Silent	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:34276437G>T	ENST00000338325.1	-	3	436	c.24C>A	c.(22-24)ggC>ggA	p.G8G	CSMD2_ENST00000373381.4_Silent_p.G451G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	411						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCGAGGGGCCTCGAAGGT	0.542																																						dbGAP											0													107.0	106.0	107.0					1																	34276437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.24C>A	1.37:g.34276437G>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G451	ENST00000338325.1	37	c.1353		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.542	CSMD2-004	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000036404.2	55	0.00	0	G	NM_052896		34276437	34276437	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	55	36.05	31	SNP	0.980	T
CSMD2	114784	genome.wustl.edu	37	1	34276437	34276437	+	Silent	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr1:34276437G>T	ENST00000338325.1	-	3	436	c.24C>A	c.(22-24)ggC>ggA	p.G8G	CSMD2_ENST00000373381.4_Silent_p.G451G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	411						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCGAGGGGCCTCGAAGGT	0.542																																						dbGAP											0													107.0	106.0	107.0					1																	34276437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.24C>A	1.37:g.34276437G>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G451	ENST00000338325.1	37	c.1353		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.542	CSMD2-004	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000036404.2	71	0.00	0	G	NM_052896		34276437	34276437	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	55	36.05	31	SNP	0.980	T
CRTC2	200186	genome.wustl.edu	37	1	153923850	153923850	+	Silent	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:153923850C>T	ENST00000368633.1	-	11	1417	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	CRTC2_ENST00000368630.3_Silent_p.V110V|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	430					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCTGAGGGGCACACGGCGGT	0.632																																						dbGAP											0													23.0	22.0	22.0					1																	153923850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1290G>A	1.37:g.153923850C>T			Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.A346T	ENST00000368633.1	37	c.1036	CCDS30875.1	1																																																																																			CRTC2	-	NULL	ENSG00000160741		0.632	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	26	0.00	0	C	NM_181715		153923850	153923850	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000461638	ensembl	human	known	69_37n	missense	50	17.74	11	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43016268	43016268	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr6:43016268T>A	ENST00000265348.3	-	8	1950	c.1865A>T	c.(1864-1866)cAg>cTg	p.Q622L	CUL7_ENST00000535468.1_Missense_Mutation_p.Q706L|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	622					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACCAGACGCTGCAGGGGAGT	0.537																																						dbGAP											0													47.0	50.0	49.0					6																	43016268		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1865A>T	6.37:g.43016268T>A	ENSP00000265348:p.Gln622Leu		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q706L	ENST00000265348.3	37	c.2117	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664475	0.47572	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79940	-1.31;-1.32	5.35	-2.25	0.06888	.	1.589830	0.03200	N	0.174692	T	0.58352	0.2116	L	0.43152	1.355	0.25914	N	0.9832	B;B	0.20988	0.05;0.0	B;B	0.18871	0.023;0.001	T	0.57057	-0.7876	10	0.66056	D	0.02	-2.4027	10.227	0.43231	0.0:0.4572:0.0:0.5428	.	706;622	F5H0L1;Q14999	.;CUL7_HUMAN	L	622;706	ENSP00000265348:Q622L;ENSP00000438788:Q706L	ENSP00000265348:Q622L	Q	-	2	0	CUL7	43124246	0.414000	0.25408	0.439000	0.26833	0.291000	0.27294	-0.163000	0.09997	-0.263000	0.09378	0.533000	0.62120	CAG	CUL7	-	NULL	ENSG00000044090		0.537	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	66	0.00	0	T	NM_014780		43016268	43016268	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	missense	74	30.56	33	SNP	0.276	A
DDX55	57696	genome.wustl.edu	37	12	124103295	124103295	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr12:124103295G>C	ENST00000238146.4	+	12	1294	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Missense_Mutation_p.R384T|DDX55_ENST00000421670.3_Missense_Mutation_p.R22T|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	415						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CTGGCTGACAGAGCTGTGTTT	0.478											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													154.0	138.0	143.0					12																	124103295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1244G>C	12.37:g.124103295G>C	ENSP00000238146:p.Arg415Thr	1531	Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R415T	ENST00000238146.4	37	c.1244	CCDS9251.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.274759	0.95459	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.68331	3.82;3.42;-0.32	6.06	6.06	0.98353	.	0.203233	0.51477	D	0.000100	D	0.87597	0.6217	M	0.93898	3.47	0.80722	D	1	P;D	0.89917	0.95;1.0	P;D	0.91635	0.899;0.999	D	0.89269	0.3603	10	0.72032	D	0.01	-17.3851	20.6208	0.99490	0.0:0.0:1.0:0.0	.	415;384	Q8NHQ9;F5H5U2	DDX55_HUMAN;.	T	415;384;22	ENSP00000238146:R415T;ENSP00000443114:R384T;ENSP00000442332:R22T	ENSP00000238146:R415T	R	+	2	0	DDX55	122669248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.882000	0.98803	0.655000	0.94253	AGA	DDX55	-	NULL	ENSG00000111364		0.478	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX55	HGNC	protein_coding	OTTHUMT00000400616.2	156	0.00	0	G			124103295	124103295	+1	no_errors	ENST00000238146	ensembl	human	known	69_37n	missense	117	30.77	52	SNP	1.000	C
DDX55	57696	genome.wustl.edu	37	12	124103295	124103295	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr12:124103295G>C	ENST00000238146.4	+	12	1294	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Missense_Mutation_p.R384T|DDX55_ENST00000421670.3_Missense_Mutation_p.R22T|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	415						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CTGGCTGACAGAGCTGTGTTT	0.478											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													154.0	138.0	143.0					12																	124103295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1244G>C	12.37:g.124103295G>C	ENSP00000238146:p.Arg415Thr	1531	Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R415T	ENST00000238146.4	37	c.1244	CCDS9251.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.274759	0.95459	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.68331	3.82;3.42;-0.32	6.06	6.06	0.98353	.	0.203233	0.51477	D	0.000100	D	0.87597	0.6217	M	0.93898	3.47	0.80722	D	1	P;D	0.89917	0.95;1.0	P;D	0.91635	0.899;0.999	D	0.89269	0.3603	10	0.72032	D	0.01	-17.3851	20.6208	0.99490	0.0:0.0:1.0:0.0	.	415;384	Q8NHQ9;F5H5U2	DDX55_HUMAN;.	T	415;384;22	ENSP00000238146:R415T;ENSP00000443114:R384T;ENSP00000442332:R22T	ENSP00000238146:R415T	R	+	2	0	DDX55	122669248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.882000	0.98803	0.655000	0.94253	AGA	DDX55	-	NULL	ENSG00000111364		0.478	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX55	HGNC	protein_coding	OTTHUMT00000400616.2	159	0.62	1	G			124103295	124103295	+1	no_errors	ENST00000238146	ensembl	human	known	69_37n	missense	117	30.77	52	SNP	1.000	C
DNAH12	201625	genome.wustl.edu	37	3	57401248	57401248	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr3:57401248A>G	ENST00000351747.2	-	38	5881	c.5701T>C	c.(5701-5703)Tat>Cat	p.Y1901H		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1901	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCTTCACATACACAGATTTT	0.368																																						dbGAP											0													133.0	103.0	112.0					3																	57401248		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.5701T>C	3.37:g.57401248A>G	ENSP00000295937:p.Tyr1901His		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Y1901H	ENST00000351747.2	37	c.5701		3	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779993	0.70222	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.39229	1.09;1.09	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.71187	0.3310	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78391	-0.2222	9	0.87932	D	0	.	15.8017	0.78456	1.0:0.0:0.0:0.0	.	1901	Q6ZR08	DYH12_HUMAN	H	1901;1920	ENSP00000295937:Y1901H;ENSP00000418137:Y1920H	ENSP00000295937:Y1901H	Y	-	1	0	DNAH12	57376288	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.115000	0.94336	2.190000	0.69967	0.460000	0.39030	TAT	DNAH12	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000174844		0.368	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		264	0.00	0	A	NM_178504		57401248	57401248	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	76	39.20	49	SNP	1.000	G
DNAH9	1770	genome.wustl.edu	37	17	11701070	11701070	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:11701070G>C	ENST00000262442.4	+	43	8448	c.8380G>C	c.(8380-8382)Gtg>Ctg	p.V2794L	DNAH9_ENST00000454412.2_Missense_Mutation_p.V2794L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2794	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAACACAGTGATGGACCT	0.493																																						dbGAP											0													229.0	167.0	188.0					17																	11701070		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8380G>C	17.37:g.11701070G>C	ENSP00000262442:p.Val2794Leu		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V2794L	ENST00000262442.4	37	c.8380	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266817	0.59540	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.54479	0.57;0.57	5.68	3.69	0.42338	Dynein heavy chain, P-loop containing D4 domain (1);	0.470274	0.22519	N	0.058992	T	0.60222	0.2252	M	0.75777	2.31	0.80722	D	1	B	0.32893	0.389	B	0.42959	0.403	T	0.60959	-0.7159	10	0.54805	T	0.06	.	11.8697	0.52513	0.1403:0.0:0.8597:0.0	.	2794	Q9NYC9	DYH9_HUMAN	L	2794;2794;1376	ENSP00000262442:V2794L;ENSP00000414874:V2794L	ENSP00000262442:V2794L	V	+	1	0	DNAH9	11641795	1.000000	0.71417	0.735000	0.30896	0.914000	0.54420	6.476000	0.73587	0.751000	0.32900	0.650000	0.86243	GTG	DNAH9	-	NULL	ENSG00000007174		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	192	0.00	0	G	NM_001372		11701070	11701070	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	121	33.52	61	SNP	0.989	C
DNAH9	1770	genome.wustl.edu	37	17	11701070	11701070	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr17:11701070G>C	ENST00000262442.4	+	43	8448	c.8380G>C	c.(8380-8382)Gtg>Ctg	p.V2794L	DNAH9_ENST00000454412.2_Missense_Mutation_p.V2794L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2794	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAACACAGTGATGGACCT	0.493																																						dbGAP											0													229.0	167.0	188.0					17																	11701070		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8380G>C	17.37:g.11701070G>C	ENSP00000262442:p.Val2794Leu		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V2794L	ENST00000262442.4	37	c.8380	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266817	0.59540	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.54479	0.57;0.57	5.68	3.69	0.42338	Dynein heavy chain, P-loop containing D4 domain (1);	0.470274	0.22519	N	0.058992	T	0.60222	0.2252	M	0.75777	2.31	0.80722	D	1	B	0.32893	0.389	B	0.42959	0.403	T	0.60959	-0.7159	10	0.54805	T	0.06	.	11.8697	0.52513	0.1403:0.0:0.8597:0.0	.	2794	Q9NYC9	DYH9_HUMAN	L	2794;2794;1376	ENSP00000262442:V2794L;ENSP00000414874:V2794L	ENSP00000262442:V2794L	V	+	1	0	DNAH9	11641795	1.000000	0.71417	0.735000	0.30896	0.914000	0.54420	6.476000	0.73587	0.751000	0.32900	0.650000	0.86243	GTG	DNAH9	-	NULL	ENSG00000007174		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	182	0.00	0	G	NM_001372		11701070	11701070	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	121	33.52	61	SNP	0.989	C
DNASE1L2	1775	genome.wustl.edu	37	16	2287303	2287303	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr16:2287303G>A	ENST00000564065.1	+	3	1318		c.e3+1		DNASE1L2_ENST00000567494.1_Splice_Site|DNASE1L2_ENST00000382437.4_Splice_Site|DNASE1L2_ENST00000320700.5_Splice_Site|RP11-304L19.12_ENST00000564055.1_lincRNA			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2						corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						TCGTGTACAGGTGAGGGGCGG	0.687																																						dbGAP											0													12.0	15.0	14.0					16																	2287303		1850	4057	5907	-	-	-	SO:0001630	splice_region_variant	0			U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.317+1G>A	16.37:g.2287303G>A			E9PBY4|Q6JVM2|Q6JVM3	Splice_Site	SNP	-	e3+1	ENST00000564065.1	37	c.317+1	CCDS42105.1	16	.	.	.	.	.	.	.	.	.	.	G	7.975	0.750007	0.15778	.	.	ENSG00000167968	ENST00000541838;ENST00000320700;ENST00000382437	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7721	0.51965	0.0:0.1794:0.8205:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNASE1L2	2227304	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	8.428000	0.90278	2.086000	0.62901	0.549000	0.68633	.	DNASE1L2	-	-	ENSG00000167968		0.687	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	DNASE1L2	HGNC	protein_coding	OTTHUMT00000435236.1	10	0.00	0	G	NM_001374	Intron	2287303	2287303	+1	no_errors	ENST00000320700	ensembl	human	known	69_37n	splice_site	30	16.67	6	SNP	1.000	A
DNASE1L2	1775	genome.wustl.edu	37	16	2287303	2287303	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr16:2287303G>A	ENST00000564065.1	+	3	1318		c.e3+1		DNASE1L2_ENST00000567494.1_Splice_Site|DNASE1L2_ENST00000382437.4_Splice_Site|DNASE1L2_ENST00000320700.5_Splice_Site|RP11-304L19.12_ENST00000564055.1_lincRNA			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2						corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						TCGTGTACAGGTGAGGGGCGG	0.687																																						dbGAP											0													12.0	15.0	14.0					16																	2287303		1850	4057	5907	-	-	-	SO:0001630	splice_region_variant	0			U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.317+1G>A	16.37:g.2287303G>A			E9PBY4|Q6JVM2|Q6JVM3	Splice_Site	SNP	-	e3+1	ENST00000564065.1	37	c.317+1	CCDS42105.1	16	.	.	.	.	.	.	.	.	.	.	G	7.975	0.750007	0.15778	.	.	ENSG00000167968	ENST00000541838;ENST00000320700;ENST00000382437	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7721	0.51965	0.0:0.1794:0.8205:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNASE1L2	2227304	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	8.428000	0.90278	2.086000	0.62901	0.549000	0.68633	.	DNASE1L2	-	-	ENSG00000167968		0.687	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	DNASE1L2	HGNC	protein_coding	OTTHUMT00000435236.1	24	0.00	0	G	NM_001374	Intron	2287303	2287303	+1	no_errors	ENST00000320700	ensembl	human	known	69_37n	splice_site	30	16.67	6	SNP	1.000	A
DOCK11	139818	genome.wustl.edu	37	X	117782984	117782984	+	Missense_Mutation	SNP	C	C	T	rs201887062		TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:117782984C>T	ENST00000276202.7	+	41	4538	c.4475C>T	c.(4474-4476)tCg>tTg	p.S1492L	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1492L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1492					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1492*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGCTGCACATCGAAGATTAGC	0.363													C|||	1	0.000264901	0.0	0.0	3775	,	,		12890	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Nonsense(1)	breast(1)											149.0	141.0	144.0					X																	117782984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4475C>T	X.37:g.117782984C>T	ENSP00000276202:p.Ser1492Leu		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1492L	ENST00000276202.7	37	c.4475	CCDS35373.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.8	4.050734	0.75960	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.76968	-1.06;-1.06	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92586	0.6079	10	0.72032	D	0.01	-5.6397	18.9793	0.92749	0.0:1.0:0.0:0.0	.	1492;1492	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	1492	ENSP00000276204:S1492L;ENSP00000276202:S1492L	ENSP00000276202:S1492L	S	+	2	0	DOCK11	117667012	1.000000	0.71417	0.991000	0.47740	0.379000	0.30106	5.770000	0.68873	2.430000	0.82344	0.429000	0.28392	TCG	DOCK11	-	NULL	ENSG00000147251		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	350	0.00	0	C	NM_144658		117782984	117782984	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	missense	175	29.72	74	SNP	1.000	T
DPY19L3	147991	genome.wustl.edu	37	19	32928151	32928151	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:32928151G>A	ENST00000342179.5	+	6	717	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	DPY19L3_ENST00000392250.2_Missense_Mutation_p.A168T|DPY19L3_ENST00000586987.1_Missense_Mutation_p.A168T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	168						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGGGCTCCAGGCGATCTATGT	0.423																																						dbGAP											0													136.0	127.0	130.0					19																	32928151		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.502G>A	19.37:g.32928151G>A	ENSP00000344937:p.Ala168Thr		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.A168T	ENST00000342179.5	37	c.502	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455417	0.43634	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.57273	0.41;0.41	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	N	0.21583	0.68	0.38889	D	0.957081	B	0.24426	0.103	B	0.22152	0.038	T	0.32052	-0.9921	10	0.51188	T	0.08	-15.0466	8.9157	0.35581	0.0738:0.0:0.7767:0.1495	.	168	Q6ZPD9	D19L3_HUMAN	T	168	ENSP00000376081:A168T;ENSP00000344937:A168T	ENSP00000315672:A168T	A	+	1	0	DPY19L3	37619991	1.000000	0.71417	0.531000	0.27976	0.628000	0.37860	3.318000	0.51975	2.696000	0.92011	0.655000	0.94253	GCG	DPY19L3	-	pfam_Dpy-19	ENSG00000178904		0.423	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	507	0.00	0	G	NM_207325		32928151	32928151	+1	no_errors	ENST00000342179	ensembl	human	known	69_37n	missense	310	20.87	82	SNP	0.979	A
DUOX1	53905	genome.wustl.edu	37	15	45428084	45428084	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr15:45428084C>G	ENST00000321429.4	+	8	1209	c.802C>G	c.(802-804)Cca>Gca	p.P268A	DUOX1_ENST00000561166.1_5'Flank|DUOX1_ENST00000389037.3_Missense_Mutation_p.P268A	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	268	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGCCAGCACCCAGACTGGGA	0.697																																						dbGAP											0													1.0	2.0	2.0					15																	45428084		538	1720	2258	-	-	-	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.802C>G	15.37:g.45428084C>G	ENSP00000317997:p.Pro268Ala		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.P268A	ENST00000321429.4	37	c.802	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	.	25.4	4.631694	0.87660	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.78003	-1.14;-1.14	4.37	4.37	0.52481	.	0.111813	0.64402	D	0.000008	D	0.89291	0.6673	M	0.89534	3.04	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.91397	0.5140	10	0.72032	D	0.01	-30.0568	14.7886	0.69821	0.0:1.0:0.0:0.0	.	268	Q9NRD9	DUOX1_HUMAN	A	268	ENSP00000317997:P268A;ENSP00000373689:P268A	ENSP00000317997:P268A	P	+	1	0	DUOX1	43215376	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.593000	0.67550	2.422000	0.82143	0.455000	0.32223	CCA	DUOX1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000137857		0.697	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	41	0.00	0	C	NM_017434		45428084	45428084	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	G
ENPP2	5168	genome.wustl.edu	37	8	120569768	120569768	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr8:120569768T>C	ENST00000075322.6	-	25	2643	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	ENPP2_ENST00000522826.1_Missense_Mutation_p.E887G|ENPP2_ENST00000427067.2_Missense_Mutation_p.E883G|ENPP2_ENST00000522167.1_Missense_Mutation_p.E497G|ENPP2_ENST00000259486.6_Missense_Mutation_p.E914G	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	862					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGTTAAATCTCGCTCTCATA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													174.0	168.0	170.0					8																	120569768		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2585A>G	8.37:g.120569768T>C	ENSP00000075322:p.Glu862Gly		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E914G	ENST00000075322.6	37	c.2741	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301303	0.81136	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.77489	-0.9;-0.89;-1.1;-0.89;-0.88	6.02	6.02	0.97574	.	0.045965	0.85682	D	0.000000	D	0.86485	0.5944	M	0.65975	2.015	0.80722	D	1	P;D;D;D;D	0.62365	0.945;0.969;0.983;0.984;0.991	P;P;P;D;P	0.65987	0.83;0.787;0.787;0.94;0.873	D	0.87413	0.2377	10	0.66056	D	0.02	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	400;887;862;914;497	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	G	914;883;497;887;862	ENSP00000259486:E914G;ENSP00000403315:E883G;ENSP00000429476:E497G;ENSP00000428291:E887G;ENSP00000075322:E862G	ENSP00000075322:E862G	E	-	2	0	ENPP2	120638949	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.948000	0.87774	2.311000	0.77944	0.533000	0.62120	GAG	ENPP2	-	NULL	ENSG00000136960		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	260	0.00	0	T			120569768	120569768	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	197	51.48	209	SNP	1.000	C
ERN1	2081	genome.wustl.edu	37	17	62133220	62133221	+	In_Frame_Ins	INS	-	-	GCT	rs541102253	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:62133220_62133221insGCT	ENST00000433197.3	-	13	1581_1582	c.1486_1487insAGC	c.(1486-1488)ctg>cAGCtg	p.495_496insQ		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GTGGAAGGGCAgctgctgctgc	0.629														30	0.00599042	0.0212	0.0014	5008	,	,		22088	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1484_1486dupAGC	17.37:g.62133227_62133229dupGCT	ENSP00000401445:p.Gln495_Gln495dup			In_Frame_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.496in_frame_insQ	ENST00000433197.3	37	c.1487_1486	CCDS45762.1	17																																																																																			ERN1	-	NULL	ENSG00000178607		0.629	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	17	0.00	0	-	NM_001433		62133220	62133221	-1	no_errors	ENST00000433197	ensembl	human	known	69_37n	in_frame_ins	25	35.90	14	INS	1.000:0.999	GCT
ERVMER34-1	100288413	genome.wustl.edu	37	4	53610742	53610742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:53610742G>A	ENST00000443173.1	-	3	1806	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ERVMER34-1_ENST00000540758.1_Nonsense_Mutation_p.R316*|ERVMER34-1_ENST00000440542.1_Nonsense_Mutation_p.R316*|ERVMER34-1_ENST00000454756.2_Intron	NM_001242690.1	NP_001229619.1	Q9H9K5	MER34_HUMAN	endogenous retrovirus group MER34, member 1	316						integral component of membrane (GO:0016021)|viral envelope (GO:0019031)				endometrium(3)|kidney(1)	4						agtccacatcgcccagaccat	0.458																																						dbGAP											0													126.0	100.0	108.0					4																	53610742		692	1591	2283	-	-	-	SO:0001587	stop_gained	0					4q12	2011-10-20			ENSG00000226887	ENSG00000226887			42970	other	endogenous retrovirus							Standard	NM_024534		Approved		uc003gzs.3	Q9H9K5	OTTHUMG00000150366	ENST00000443173.1:c.946C>T	4.37:g.53610742G>A	ENSP00000460602:p.Arg316*		B3KTB4|Q0P5R3|Q6NWN0	Nonsense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.R316*	ENST00000443173.1	37	c.946		4																																																																																			ERVMER34-1	-	NULL	ENSG00000226887		0.458	ERVMER34-1-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	ERVMER34-1	HGNC	protein_coding	OTTHUMT00000317860.2	197	0.00	0	G	NM_024534		53610742	53610742	-1	no_errors	ENST00000440542	ensembl	human	known	69_37n	nonsense	126	29.83	54	SNP	0.025	A
ERVMER34-1	100288413	genome.wustl.edu	37	4	53610742	53610742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr4:53610742G>A	ENST00000443173.1	-	3	1806	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ERVMER34-1_ENST00000540758.1_Nonsense_Mutation_p.R316*|ERVMER34-1_ENST00000440542.1_Nonsense_Mutation_p.R316*|ERVMER34-1_ENST00000454756.2_Intron	NM_001242690.1	NP_001229619.1	Q9H9K5	MER34_HUMAN	endogenous retrovirus group MER34, member 1	316						integral component of membrane (GO:0016021)|viral envelope (GO:0019031)				endometrium(3)|kidney(1)	4						agtccacatcgcccagaccat	0.458																																						dbGAP											0													126.0	100.0	108.0					4																	53610742		692	1591	2283	-	-	-	SO:0001587	stop_gained	0					4q12	2011-10-20			ENSG00000226887	ENSG00000226887			42970	other	endogenous retrovirus							Standard	NM_024534		Approved		uc003gzs.3	Q9H9K5	OTTHUMG00000150366	ENST00000443173.1:c.946C>T	4.37:g.53610742G>A	ENSP00000460602:p.Arg316*		B3KTB4|Q0P5R3|Q6NWN0	Nonsense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.R316*	ENST00000443173.1	37	c.946		4																																																																																			ERVMER34-1	-	NULL	ENSG00000226887		0.458	ERVMER34-1-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	ERVMER34-1	HGNC	protein_coding	OTTHUMT00000317860.2	148	0.00	0	G	NM_024534		53610742	53610742	-1	no_errors	ENST00000440542	ensembl	human	known	69_37n	nonsense	126	29.83	54	SNP	0.025	A
FAM177B	400823	genome.wustl.edu	37	1	222920385	222920385	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:222920385G>A	ENST00000445590.2	+	4	469	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	FAM177B_ENST00000360827.2_Missense_Mutation_p.R68Q	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	68										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CCCTACCTACGATTTTGGGCA	0.368																																						dbGAP											0													110.0	114.0	112.0					1																	222920385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.203G>A	1.37:g.222920385G>A	ENSP00000414451:p.Arg68Gln		Q6ZUN8	Missense_Mutation	SNP	NULL	p.R68Q	ENST00000445590.2	37	c.203	CCDS1535.2	1	.	.	.	.	.	.	.	.	.	.	g	10.56	1.385331	0.25031	.	.	ENSG00000197520	ENST00000434700;ENST00000445590;ENST00000360827;ENST00000456298	T;T;T;T	0.44881	0.92;1.47;1.47;0.91	4.72	3.78	0.43462	.	0.987965	0.08222	N	0.979035	T	0.43010	0.1228	L	0.40543	1.245	0.19300	N	0.999977	D	0.64830	0.994	P	0.48488	0.579	T	0.22208	-1.0223	10	0.46703	T	0.11	-0.0021	10.093	0.42458	0.0:0.0:0.7993:0.2007	.	68	A6PVY3	F177B_HUMAN	Q	68	ENSP00000391615:R68Q;ENSP00000414451:R68Q;ENSP00000354070:R68Q;ENSP00000400233:R68Q	ENSP00000354070:R68Q	R	+	2	0	FAM177B	220987008	0.866000	0.29940	0.595000	0.28798	0.588000	0.36517	1.484000	0.35508	0.928000	0.37168	0.591000	0.81541	CGA	FAM177B	-	NULL	ENSG00000197520		0.368	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM177B	HGNC	protein_coding	OTTHUMT00000092151.2	496	0.00	0	G	NM_207468		222920385	222920385	+1	no_errors	ENST00000360827	ensembl	human	known	69_37n	missense	115	52.28	126	SNP	0.530	A
SPATA31D1	389763	genome.wustl.edu	37	9	84608347	84608347	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr9:84608347C>T	ENST00000344803.2	+	4	3009	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	988					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCGTCCTCACCCTGTCTCCTC	0.498																																						dbGAP											0													139.0	141.0	140.0					9																	84608347		1958	4151	6109	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2962C>T	9.37:g.84608347C>T	ENSP00000341988:p.Pro988Ser			Missense_Mutation	SNP	NULL	p.P988S	ENST00000344803.2	37	c.2962	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	7.851	0.724037	0.15439	.	.	ENSG00000214929	ENST00000344803	T	0.04758	3.56	2.45	1.52	0.23074	.	.	.	.	.	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	1	D	0.53619	0.961	P	0.56916	0.809	T	0.42949	-0.9421	9	0.20519	T	0.43	.	5.011	0.14312	0.0:0.8236:0.0:0.1764	.	988	Q6ZQQ2	F75D1_HUMAN	S	988	ENSP00000341988:P988S	ENSP00000341988:P988S	P	+	1	0	FAM75D1	83798167	0.038000	0.19896	0.002000	0.10522	0.008000	0.06430	0.124000	0.15728	0.619000	0.30197	0.556000	0.70494	CCT	FAM75D1	-	NULL	ENSG00000214929		0.498	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	119	0.00	0	C	NM_001001670		84608347	84608347	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	76	26.92	28	SNP	0.002	T
FRAS1	80144	genome.wustl.edu	37	4	79236807	79236807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:79236807G>T	ENST00000325942.6	+	16	2178	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.E580*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.E580*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	580					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TACCTGTACTGAGAAGACAGT	0.517																																						dbGAP											0													162.0	153.0	156.0					4																	79236807		1970	4161	6131	-	-	-	SO:0001587	stop_gained	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1738G>T	4.37:g.79236807G>T	ENSP00000326330:p.Glu580*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.E580*	ENST00000325942.6	37	c.1738	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.08|14.08	2.428458|2.428458	0.43122|0.43122	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899|ENST00000508900	.|.	.|.	.|.	5.86|5.86	4.84|4.84	0.62591|0.62591	.|.	0.446447|.	0.23629|.	N|.	0.046156|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.08599|.	T|.	0.76|.	.|.	6.6584|6.6584	0.23000|0.23000	0.1547:0.1663:0.679:0.0|0.1547:0.1663:0.679:0.0	.|.	.|.	.|.	.|.	X|L	580|422	.|.	ENSP00000264895:E580X|.	E|X	+|+	1|2	0|2	FRAS1|FRAS1	79455831|79455831	0.148000|0.148000	0.22702|0.22702	0.064000|0.064000	0.19789|0.19789	0.006000|0.006000	0.05464|0.05464	0.875000|0.875000	0.28079|0.28079	2.771000|2.771000	0.95319|0.95319	0.650000|0.650000	0.86243|0.86243	GAG|TGA	FRAS1	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EGF-like	ENSG00000138759		0.517	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	220	0.00	0	G			79236807	79236807	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	nonsense	270	20.53	70	SNP	0.002	T
FRAS1	80144	genome.wustl.edu	37	4	79236807	79236807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr4:79236807G>T	ENST00000325942.6	+	16	2178	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.E580*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.E580*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	580					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TACCTGTACTGAGAAGACAGT	0.517																																						dbGAP											0													162.0	153.0	156.0					4																	79236807		1970	4161	6131	-	-	-	SO:0001587	stop_gained	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1738G>T	4.37:g.79236807G>T	ENSP00000326330:p.Glu580*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.E580*	ENST00000325942.6	37	c.1738	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.08|14.08	2.428458|2.428458	0.43122|0.43122	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899|ENST00000508900	.|.	.|.	.|.	5.86|5.86	4.84|4.84	0.62591|0.62591	.|.	0.446447|.	0.23629|.	N|.	0.046156|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.08599|.	T|.	0.76|.	.|.	6.6584|6.6584	0.23000|0.23000	0.1547:0.1663:0.679:0.0|0.1547:0.1663:0.679:0.0	.|.	.|.	.|.	.|.	X|L	580|422	.|.	ENSP00000264895:E580X|.	E|X	+|+	1|2	0|2	FRAS1|FRAS1	79455831|79455831	0.148000|0.148000	0.22702|0.22702	0.064000|0.064000	0.19789|0.19789	0.006000|0.006000	0.05464|0.05464	0.875000|0.875000	0.28079|0.28079	2.771000|2.771000	0.95319|0.95319	0.650000|0.650000	0.86243|0.86243	GAG|TGA	FRAS1	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EGF-like	ENSG00000138759		0.517	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	226	0.44	1	G			79236807	79236807	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	nonsense	270	20.53	70	SNP	0.002	T
GORAB	92344	genome.wustl.edu	37	1	170521402	170521402	+	Silent	SNP	A	A	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:170521402A>T	ENST00000367763.3	+	5	1004	c.984A>T	c.(982-984)ccA>ccT	p.P328P		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	328	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAGGAGACCAGTGGTTCGTT	0.453																																						dbGAP											0													113.0	102.0	106.0					1																	170521402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.984A>T	1.37:g.170521402A>T			Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	pfam_Golgin_RAB6-interacting	p.P328	ENST00000367763.3	37	c.984	CCDS1289.1	1																																																																																			GORAB	-	NULL	ENSG00000120370		0.453	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	190	0.00	0	A	NM_152281		170521402	170521402	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	silent	118	22.37	34	SNP	0.105	T
GORAB	92344	genome.wustl.edu	37	1	170521402	170521402	+	Silent	SNP	A	A	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr1:170521402A>T	ENST00000367763.3	+	5	1004	c.984A>T	c.(982-984)ccA>ccT	p.P328P		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	328	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAGGAGACCAGTGGTTCGTT	0.453																																						dbGAP											0													113.0	102.0	106.0					1																	170521402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.984A>T	1.37:g.170521402A>T			Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	pfam_Golgin_RAB6-interacting	p.P328	ENST00000367763.3	37	c.984	CCDS1289.1	1																																																																																			GORAB	-	NULL	ENSG00000120370		0.453	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	83	0.00	0	A	NM_152281		170521402	170521402	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	silent	118	22.37	34	SNP	0.105	T
GPR42	2866	genome.wustl.edu	37	19	35862464	35862464	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:35862464T>C	ENST00000454971.1	+	2	404	c.203T>C	c.(202-204)cTg>cCg	p.L68P	GPR42_ENST00000597214.1_Missense_Mutation_p.L68P			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	68						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	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)			CTGCTGTTCCTGCCTTTCCGC	0.632																																						dbGAP											0													20.0	17.0	18.0					19																	35862464		1502	2380	3882	-	-	-	SO:0001583	missense	0			AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.203T>C	19.37:g.35862464T>C	ENSP00000410925:p.Leu68Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.L68P	ENST00000454971.1	37	c.203		19	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577261	0.45902	.	.	ENSG00000126251	ENST00000454971	T	0.74947	-0.89	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.85093	0.5618	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86765	0.1969	9	0.87932	D	0	-10.6908	11.288	0.49232	0.0:0.0:0.0:1.0	.	68	O15529	GPR42_HUMAN	P	68	ENSP00000410925:L68P	ENSP00000410925:L68P	L	+	2	0	GPR42	40554304	1.000000	0.71417	0.994000	0.49952	0.092000	0.18411	6.185000	0.72013	1.606000	0.50161	0.477000	0.44152	CTG	GPR42	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000126251		0.632	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GPR42	HGNC	protein_coding	OTTHUMT00000347518.1	37	0.00	0	T	NM_005305		35862464	35862464	+1	no_errors	ENST00000454971	ensembl	human	known	69_37n	missense	105	21.90	30	SNP	1.000	C
GPR42	2866	genome.wustl.edu	37	19	35862464	35862464	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr19:35862464T>C	ENST00000454971.1	+	2	404	c.203T>C	c.(202-204)cTg>cCg	p.L68P	GPR42_ENST00000597214.1_Missense_Mutation_p.L68P			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	68						integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	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)			CTGCTGTTCCTGCCTTTCCGC	0.632																																						dbGAP											0													20.0	17.0	18.0					19																	35862464		1502	2380	3882	-	-	-	SO:0001583	missense	0			AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.203T>C	19.37:g.35862464T>C	ENSP00000410925:p.Leu68Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.L68P	ENST00000454971.1	37	c.203		19	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577261	0.45902	.	.	ENSG00000126251	ENST00000454971	T	0.74947	-0.89	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.85093	0.5618	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86765	0.1969	9	0.87932	D	0	-10.6908	11.288	0.49232	0.0:0.0:0.0:1.0	.	68	O15529	GPR42_HUMAN	P	68	ENSP00000410925:L68P	ENSP00000410925:L68P	L	+	2	0	GPR42	40554304	1.000000	0.71417	0.994000	0.49952	0.092000	0.18411	6.185000	0.72013	1.606000	0.50161	0.477000	0.44152	CTG	GPR42	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000126251		0.632	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GPR42	HGNC	protein_coding	OTTHUMT00000347518.1	108	0.00	0	T	NM_005305		35862464	35862464	+1	no_errors	ENST00000454971	ensembl	human	known	69_37n	missense	105	21.90	30	SNP	1.000	C
GRPEL2	134266	genome.wustl.edu	37	5	148730786	148730786	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr5:148730786G>A	ENST00000329271.3	+	4	729	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	207					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACTTCATGGCCGCACCAT	0.547																																						dbGAP											0													86.0	80.0	82.0					5																	148730786		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.619G>A	5.37:g.148730786G>A	ENSP00000329558:p.Gly207Ser		B4DFA6|Q49AJ6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.G207S	ENST00000329271.3	37	c.619	CCDS4295.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.118216	0.94385	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.91	5.91	0.95273	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81658	-0.0833	9	0.49607	T	0.09	-2.9444	20.3502	0.98811	0.0:0.0:1.0:0.0	.	207	Q8TAA5	GRPE2_HUMAN	S	207	.	ENSP00000329558:G207S	G	+	1	0	GRPEL2	148710979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.682000	0.74528	2.807000	0.96579	0.650000	0.86243	GGC	GRPEL2	-	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	ENSG00000164284		0.547	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1	47	0.00	0	G	NM_152407		148730786	148730786	+1	no_errors	ENST00000329271	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	A
GRPEL2	134266	genome.wustl.edu	37	5	148730786	148730786	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr5:148730786G>A	ENST00000329271.3	+	4	729	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	207					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACTTCATGGCCGCACCAT	0.547																																						dbGAP											0													86.0	80.0	82.0					5																	148730786		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.619G>A	5.37:g.148730786G>A	ENSP00000329558:p.Gly207Ser		B4DFA6|Q49AJ6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.G207S	ENST00000329271.3	37	c.619	CCDS4295.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.118216	0.94385	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.91	5.91	0.95273	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81658	-0.0833	9	0.49607	T	0.09	-2.9444	20.3502	0.98811	0.0:0.0:1.0:0.0	.	207	Q8TAA5	GRPE2_HUMAN	S	207	.	ENSP00000329558:G207S	G	+	1	0	GRPEL2	148710979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.682000	0.74528	2.807000	0.96579	0.650000	0.86243	GGC	GRPEL2	-	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	ENSG00000164284		0.547	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1	50	0.00	0	G	NM_152407		148730786	148730786	+1	no_errors	ENST00000329271	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	A
JARID2	3720	genome.wustl.edu	37	6	15496730	15496730	+	Missense_Mutation	SNP	G	G	A	rs573872359	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr6:15496730G>A	ENST00000341776.2	+	7	1518	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R253Q|JARID2_ENST00000541660.1_Missense_Mutation_p.R387Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	425					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTGGGGGGGCGGCAGCTGCGG	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		10318	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													18.0	24.0	22.0					6																	15496730		2158	4239	6397	-	-	-	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1274G>A	6.37:g.15496730G>A	ENSP00000341280:p.Arg425Gln		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R425Q	ENST00000341776.2	37	c.1274	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036381	0.75617	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89343	-1.85;-1.84;-2.5	5.04	5.04	0.67666	.	0.056961	0.64402	D	0.000003	T	0.80706	0.4674	L	0.29908	0.895	0.33670	D	0.610811	D;D;B	0.71674	0.991;0.998;0.138	P;P;B	0.52066	0.552;0.689;0.009	T	0.76838	-0.2811	10	0.13853	T	0.58	-14.1009	13.7428	0.62857	0.0:0.0:1.0:0.0	.	387;289;425	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	Q	289;425;253;387	ENSP00000341280:R425Q;ENSP00000380478:R253Q;ENSP00000444623:R387Q	ENSP00000341280:R425Q	R	+	2	0	JARID2	15604709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.368000	0.90115	2.618000	0.88619	0.655000	0.94253	CGG	JARID2	-	NULL	ENSG00000008083		0.677	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	14	0.00	0	G	NM_004973		15496730	15496730	+1	no_errors	ENST00000341776	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	A
KRTAP5-4	387267	genome.wustl.edu	37	11	1643225	1643225	+	Silent	SNP	G	G	A	rs28421796	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr11:1643225G>A	ENST00000399682.1	-	1	143	c.99C>T	c.(97-99)tcC>tcT	p.S33S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccggagccacagc	0.692													g|||	341	0.0680911	0.0817	0.0548	5008	,	,		5641	0.0853		0.0547	False		,,,				2504	0.0552					dbGAP											0													4.0	9.0	8.0					11																	1643225		562	1405	1967	-	-	-	SO:0001819	synonymous_variant	0			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.99C>T	11.37:g.1643225G>A				Silent	SNP	NULL	p.S33	ENST00000399682.1	37	c.99		11																																																																																			KRTAP5-4	-	NULL	ENSG00000241598		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	KRTAP5-4	HGNC	protein_coding	OTTHUMT00000127918.1	10	0.00	0	G	NM_001012709		1643225	1643225	-1	no_errors	ENST00000399682	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.541	A
LAMA1	284217	genome.wustl.edu	37	18	7049147	7049147	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr18:7049147G>A	ENST00000389658.3	-	5	791	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	233	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCATTGAGCGTTCTAATGCG	0.488																																						dbGAP											0													146.0	121.0	129.0					18																	7049147		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.698C>T	18.37:g.7049147G>A	ENSP00000374309:p.Thr233Met			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T233M	ENST00000389658.3	37	c.698	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401349	0.83120	.	.	ENSG00000101680	ENST00000389658	T	0.79845	-1.31	5.86	5.86	0.93980	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94846	0.8009	10	0.87932	D	0	.	20.1931	0.98233	0.0:0.0:1.0:0.0	.	233	P25391	LAMA1_HUMAN	M	233	ENSP00000374309:T233M	ENSP00000374309:T233M	T	-	2	0	LAMA1	7039147	1.000000	0.71417	0.538000	0.28064	0.490000	0.33462	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	ACG	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	125	0.00	0	G	NM_005559		7049147	7049147	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	87	22.32	25	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	7049147	7049147	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr18:7049147G>A	ENST00000389658.3	-	5	791	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	233	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCATTGAGCGTTCTAATGCG	0.488																																						dbGAP											0													146.0	121.0	129.0					18																	7049147		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.698C>T	18.37:g.7049147G>A	ENSP00000374309:p.Thr233Met			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T233M	ENST00000389658.3	37	c.698	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401349	0.83120	.	.	ENSG00000101680	ENST00000389658	T	0.79845	-1.31	5.86	5.86	0.93980	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94846	0.8009	10	0.87932	D	0	.	20.1931	0.98233	0.0:0.0:1.0:0.0	.	233	P25391	LAMA1_HUMAN	M	233	ENSP00000374309:T233M	ENSP00000374309:T233M	T	-	2	0	LAMA1	7039147	1.000000	0.71417	0.538000	0.28064	0.490000	0.33462	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	ACG	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	82	0.00	0	G	NM_005559		7049147	7049147	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	87	22.32	25	SNP	1.000	A
LGALS12	85329	genome.wustl.edu	37	11	63276064	63276064	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr11:63276064G>A	ENST00000394618.3	+	2	466	c.175G>A	c.(175-177)Gca>Aca	p.A59T	LGALS12_ENST00000340246.5_Missense_Mutation_p.A59T|LGALS12_ENST00000255684.5_Missense_Mutation_p.A59T|LGALS12_ENST00000415491.2_5'UTR|LGALS12_ENST00000425950.2_5'UTR	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	59	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGGCCTGCATGCAGGCAAGAT	0.547																																						dbGAP											0													103.0	93.0	97.0					11																	63276064		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.175G>A	11.37:g.63276064G>A	ENSP00000378116:p.Ala59Thr		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.A59T	ENST00000394618.3	37	c.175	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451532	0.26074	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246	T;T;T	0.16457	2.34;2.34;2.76	5.51	2.48	0.30137	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.320684	0.26638	N	0.023278	T	0.17408	0.0418	M	0.68317	2.08	0.80722	D	1	B;B;B	0.21688	0.047;0.035;0.059	B;B;B	0.24394	0.025;0.038;0.053	T	0.03981	-1.0987	10	0.51188	T	0.08	-2.8197	5.5956	0.17325	0.2408:0.1415:0.6176:0.0	.	59;59;59	G5E970;Q96DT0-3;Q96DT0	.;.;LEG12_HUMAN	T	59	ENSP00000255684:A59T;ENSP00000378116:A59T;ENSP00000339374:A59T	ENSP00000255684:A59T	A	+	1	0	LGALS12	63032640	0.056000	0.20664	0.255000	0.24374	0.270000	0.26580	1.003000	0.29809	0.338000	0.23692	-0.345000	0.07892	GCA	LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000133317		0.547	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	164	0.00	0	G	NM_033101		63276064	63276064	+1	no_errors	ENST00000340246	ensembl	human	known	69_37n	missense	143	22.70	42	SNP	0.507	A
LGALS12	85329	genome.wustl.edu	37	11	63276064	63276064	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr11:63276064G>A	ENST00000394618.3	+	2	466	c.175G>A	c.(175-177)Gca>Aca	p.A59T	LGALS12_ENST00000340246.5_Missense_Mutation_p.A59T|LGALS12_ENST00000255684.5_Missense_Mutation_p.A59T|LGALS12_ENST00000415491.2_5'UTR|LGALS12_ENST00000425950.2_5'UTR	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	59	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGGCCTGCATGCAGGCAAGAT	0.547																																						dbGAP											0													103.0	93.0	97.0					11																	63276064		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.175G>A	11.37:g.63276064G>A	ENSP00000378116:p.Ala59Thr		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.A59T	ENST00000394618.3	37	c.175	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451532	0.26074	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246	T;T;T	0.16457	2.34;2.34;2.76	5.51	2.48	0.30137	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.320684	0.26638	N	0.023278	T	0.17408	0.0418	M	0.68317	2.08	0.80722	D	1	B;B;B	0.21688	0.047;0.035;0.059	B;B;B	0.24394	0.025;0.038;0.053	T	0.03981	-1.0987	10	0.51188	T	0.08	-2.8197	5.5956	0.17325	0.2408:0.1415:0.6176:0.0	.	59;59;59	G5E970;Q96DT0-3;Q96DT0	.;.;LEG12_HUMAN	T	59	ENSP00000255684:A59T;ENSP00000378116:A59T;ENSP00000339374:A59T	ENSP00000255684:A59T	A	+	1	0	LGALS12	63032640	0.056000	0.20664	0.255000	0.24374	0.270000	0.26580	1.003000	0.29809	0.338000	0.23692	-0.345000	0.07892	GCA	LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000133317		0.547	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	164	0.00	0	G	NM_033101		63276064	63276064	+1	no_errors	ENST00000340246	ensembl	human	known	69_37n	missense	143	22.70	42	SNP	0.507	A
LGALS4	3960	genome.wustl.edu	37	19	39299504	39299504	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:39299504C>A	ENST00000307751.4	-	3	696	c.219G>T	c.(217-219)aaG>aaT	p.K73N	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	73	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGAAGACCACCTTGTCCCAGC	0.582																																						dbGAP											0													140.0	108.0	119.0					19																	39299504		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.219G>T	19.37:g.39299504C>A	ENSP00000302100:p.Lys73Asn			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.K73N	ENST00000307751.4	37	c.219	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149020	0.57151	.	.	ENSG00000171747	ENST00000307751	T	0.05786	3.39	5.32	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.86502	2.82	0.51233	D	0.999916	D;D	0.89917	1.0;0.997	D;P	0.75484	0.986;0.884	T	0.07986	-1.0744	10	0.39692	T	0.17	-37.9095	14.2016	0.65707	0.1511:0.8489:0.0:0.0	.	73;73	B4DKK5;P56470	.;LEG4_HUMAN	N	73	ENSP00000302100:K73N	ENSP00000302100:K73N	K	-	3	2	LGALS4	43991344	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	1.061000	0.30542	1.210000	0.43336	0.549000	0.68633	AAG	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000171747		0.582	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	66	0.00	0	C	NM_006149		39299504	39299504	-1	no_errors	ENST00000307751	ensembl	human	known	69_37n	missense	127	26.86	47	SNP	1.000	A
LGALS4	3960	genome.wustl.edu	37	19	39299504	39299504	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr19:39299504C>A	ENST00000307751.4	-	3	696	c.219G>T	c.(217-219)aaG>aaT	p.K73N	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	73	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGAAGACCACCTTGTCCCAGC	0.582																																						dbGAP											0													140.0	108.0	119.0					19																	39299504		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.219G>T	19.37:g.39299504C>A	ENSP00000302100:p.Lys73Asn			Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.K73N	ENST00000307751.4	37	c.219	CCDS12521.1	19	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149020	0.57151	.	.	ENSG00000171747	ENST00000307751	T	0.05786	3.39	5.32	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.86502	2.82	0.51233	D	0.999916	D;D	0.89917	1.0;0.997	D;P	0.75484	0.986;0.884	T	0.07986	-1.0744	10	0.39692	T	0.17	-37.9095	14.2016	0.65707	0.1511:0.8489:0.0:0.0	.	73;73	B4DKK5;P56470	.;LEG4_HUMAN	N	73	ENSP00000302100:K73N	ENSP00000302100:K73N	K	-	3	2	LGALS4	43991344	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	1.061000	0.30542	1.210000	0.43336	0.549000	0.68633	AAG	LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000171747		0.582	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	114	0.87	1	C	NM_006149		39299504	39299504	-1	no_errors	ENST00000307751	ensembl	human	known	69_37n	missense	127	26.86	47	SNP	1.000	A
MIR205HG	642587	genome.wustl.edu	37	1	209605636	209605637	+	lincRNA	INS	-	-	AGC	rs565985624|rs57779889|rs71788170|rs74820836|rs3842530	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:209605636_209605637insAGC	ENST00000384891.1	+	0	220					NR_029622.1				MIR205 host gene (non-protein coding)																		gccaccaccgTagcagcagcag	0.564														337	0.0672923	0.23	0.0231	5008	,	,		19679	0.003		0.005	False		,,,				2504	0.0092					dbGAP											0																																										-	-	-			0					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605643_209605645dupAGC				RNA	INS	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-	ENSG00000230937		0.564	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		18	0.00	0	-			209605636	209605637	+1	no_errors	ENST00000366437	ensembl	human	known	69_37n	rna	29	21.62	8	INS	0.001:0.000	AGC
TRPM1	4308	genome.wustl.edu	37	15	31357292	31357292	+	Intron	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr15:31357292A>G	ENST00000256552.6	-	7	938				TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000542188.1_Intron|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCTGCTCAGAGCCCTAGGCG	0.512																																						dbGAP											0													180.0	164.0	169.0					15																	31357292		1567	3582	5149	-	-	-	SO:0001627	intron_variant	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.790+986T>C	15.37:g.31357292A>G				RNA	SNP	-	NULL	ENST00000256552.6	37	NULL	CCDS58346.1	15																																																																																			MIR211	-	-	ENSG00000207702		0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	MIR211	HGNC	protein_coding	OTTHUMT00000417166.2	111	0.00	0	A	NM_002420		31357292	31357292	-1	no_errors	ENST00000384969	ensembl	human	known	69_37n	rna	77	30.00	33	SNP	0.998	G
TRPM1	4308	genome.wustl.edu	37	15	31357292	31357292	+	Intron	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr15:31357292A>G	ENST00000256552.6	-	7	938				TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000542188.1_Intron|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCTGCTCAGAGCCCTAGGCG	0.512																																						dbGAP											0													180.0	164.0	169.0					15																	31357292		1567	3582	5149	-	-	-	SO:0001627	intron_variant	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.790+986T>C	15.37:g.31357292A>G				RNA	SNP	-	NULL	ENST00000256552.6	37	NULL	CCDS58346.1	15																																																																																			MIR211	-	-	ENSG00000207702		0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	MIR211	HGNC	protein_coding	OTTHUMT00000417166.2	130	0.00	0	A	NM_002420		31357292	31357292	-1	no_errors	ENST00000384969	ensembl	human	known	69_37n	rna	77	30.00	33	SNP	0.998	G
KMT2C	58508	genome.wustl.edu	37	7	151871273	151871273	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr7:151871273C>T	ENST00000262189.6	-	39	9535	c.9317G>A	c.(9316-9318)gGt>gAt	p.G3106D	KMT2C_ENST00000355193.2_Missense_Mutation_p.G3106D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3106	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTATTTATACCTTTAAGGGC	0.368																																						dbGAP											0													129.0	128.0	129.0					7																	151871273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9317G>A	7.37:g.151871273C>T	ENSP00000262189:p.Gly3106Asp		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G3106D	ENST00000262189.6	37	c.9317	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120629	0.77323	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98313	-4.86;-4.84	5.51	5.51	0.81932	.	0.000000	0.47455	D	0.000239	D	0.98924	0.9635	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99862	1.1084	10	0.72032	D	0.01	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	3106;2167;3106	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	D	3106	ENSP00000262189:G3106D;ENSP00000347325:G3106D	ENSP00000262189:G3106D	G	-	2	0	MLL3	151502206	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.585000	0.87301	0.650000	0.86243	GGT	MLL3	-	NULL	ENSG00000055609		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	446	0.00	0	C			151871273	151871273	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	146	28.78	59	SNP	1.000	T
MSH3	4437	genome.wustl.edu	37	5	80064756	80064756	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr5:80064756T>A	ENST00000265081.6	+	15	2267	c.2187T>A	c.(2185-2187)caT>caA	p.H729Q		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	729					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)		TCCGAATGCATTTGCAAGAAA	0.323								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													79.0	80.0	79.0					5																	80064756		2203	4299	6502	-	-	-	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.2187T>A	5.37:g.80064756T>A	ENSP00000265081:p.His729Gln		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.H729Q	ENST00000265081.6	37	c.2187	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239727	0.58995	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89270	-2.49	4.51	3.34	0.38264	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.047359	0.85682	D	0.000000	D	0.92189	0.7523	M	0.78049	2.395	0.27974	N	0.936297	D	0.59767	0.986	P	0.59948	0.866	D	0.86274	0.1663	9	.	.	.	-14.133	9.7847	0.40668	0.0:0.0836:0.0:0.9163	.	729	P20585	MSH3_HUMAN	Q	729;720	ENSP00000265081:H729Q	.	H	+	3	2	MSH3	80100512	1.000000	0.71417	0.982000	0.44146	0.820000	0.46376	3.303000	0.51858	0.673000	0.31224	0.477000	0.44152	CAT	MSH3	-	pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000113318		0.323	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	318	0.00	0	T	NM_002439		80064756	80064756	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	missense	55	46.60	48	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100634705	100634705	+	Silent	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr7:100634705T>A	ENST00000379442.3	+	5	1290	c.1290T>A	c.(1288-1290)acT>acA	p.T430T	MUC12_ENST00000536621.1_Silent_p.T287T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	430	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						CAAAGGACACTTCGCCTGCAC	0.527																																						dbGAP											0													114.0	99.0	104.0					7																	100634705		692	1591	2283	-	-	-	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.1290T>A	7.37:g.100634705T>A			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.T430	ENST00000379442.3	37	c.1290		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	237	0.00	0	T	XM_379904		100634705	100634705	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	248	27.54	95	SNP	0.001	A
MUC12	10071	genome.wustl.edu	37	7	100634705	100634705	+	Silent	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr7:100634705T>A	ENST00000379442.3	+	5	1290	c.1290T>A	c.(1288-1290)acT>acA	p.T430T	MUC12_ENST00000536621.1_Silent_p.T287T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	430	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						CAAAGGACACTTCGCCTGCAC	0.527																																						dbGAP											0													114.0	99.0	104.0					7																	100634705		692	1591	2283	-	-	-	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.1290T>A	7.37:g.100634705T>A			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.T430	ENST00000379442.3	37	c.1290		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	253	0.00	0	T	XM_379904		100634705	100634705	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	248	27.54	95	SNP	0.001	A
NLGN3	54413	genome.wustl.edu	37	X	70386913	70386913	+	Silent	SNP	T	T	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:70386913T>G	ENST00000358741.3	+	7	1269	c.966T>G	c.(964-966)gcT>gcG	p.A322A	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.A302A|NLGN3_ENST00000536169.1_Silent_p.A282A	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	322					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAGCTGGGCTGTGAACTACC	0.522																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													69.0	55.0	60.0					X																	70386913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.966T>G	X.37:g.70386913T>G			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.A322	ENST00000358741.3	37	c.966	CCDS55441.1	X																																																																																			NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.522	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	42	0.00	0	T	NM_018977		70386913	70386913	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	silent	62	19.48	15	SNP	0.995	G
NLGN3	54413	genome.wustl.edu	37	X	70386913	70386913	+	Silent	SNP	T	T	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chrX:70386913T>G	ENST00000358741.3	+	7	1269	c.966T>G	c.(964-966)gcT>gcG	p.A322A	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.A302A|NLGN3_ENST00000536169.1_Silent_p.A282A	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	322					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAGCTGGGCTGTGAACTACC	0.522																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													69.0	55.0	60.0					X																	70386913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.966T>G	X.37:g.70386913T>G			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.A322	ENST00000358741.3	37	c.966	CCDS55441.1	X																																																																																			NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.522	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	73	0.00	0	T	NM_018977		70386913	70386913	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	silent	62	19.48	15	SNP	0.995	G
NT5C1B	93034	genome.wustl.edu	37	2	18765450	18765450	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:18765450T>A	ENST00000359846.2	-	6	1052	c.975A>T	c.(973-975)aaA>aaT	p.K325N	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.K325N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.K325N|NT5C1B_ENST00000304081.4_Missense_Mutation_p.K265N|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	325					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTCGTAGATTTTCCTGCCGT	0.552																																						dbGAP											0													167.0	160.0	162.0					2																	18765450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.975A>T	2.37:g.18765450T>A	ENSP00000352904:p.Lys325Asn		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.K325N	ENST00000359846.2	37	c.975	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079338	0.76528	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.90788	-2.73	5.58	3.18	0.36537	.	0.366594	0.32703	N	0.005743	D	0.92977	0.7765	M	0.71036	2.16	0.37781	D	0.927026	P;P;P;P;P;P;P;P;D	0.69078	0.858;0.945;0.749;0.729;0.799;0.735;0.837;0.945;0.997	B;P;B;B;B;B;P;P;D	0.65233	0.334;0.549;0.334;0.334;0.343;0.444;0.535;0.468;0.933	D	0.92039	0.5639	10	0.52906	T	0.07	-51.0673	8.3659	0.32387	0.0:0.308:0.0:0.692	.	308;342;265;308;267;117;265;325;325	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	N	325;267;265;325	ENSP00000412639:K267N	ENSP00000305979:K265N	K	-	3	2	NT5C1B-RDH14;NT5C1B	18628931	0.998000	0.40836	0.988000	0.46212	0.965000	0.64279	0.491000	0.22419	0.478000	0.27488	0.528000	0.53228	AAA	NT5C1B	-	NULL	ENSG00000185013		0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	67	0.00	0	T			18765450	18765450	-1	no_errors	ENST00000359846	ensembl	human	known	69_37n	missense	171	15.35	31	SNP	1.000	A
NT5C1B	93034	genome.wustl.edu	37	2	18765450	18765450	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr2:18765450T>A	ENST00000359846.2	-	6	1052	c.975A>T	c.(973-975)aaA>aaT	p.K325N	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.K325N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.K325N|NT5C1B_ENST00000304081.4_Missense_Mutation_p.K265N|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	325					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTCGTAGATTTTCCTGCCGT	0.552																																						dbGAP											0													167.0	160.0	162.0					2																	18765450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.975A>T	2.37:g.18765450T>A	ENSP00000352904:p.Lys325Asn		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.K325N	ENST00000359846.2	37	c.975	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079338	0.76528	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.90788	-2.73	5.58	3.18	0.36537	.	0.366594	0.32703	N	0.005743	D	0.92977	0.7765	M	0.71036	2.16	0.37781	D	0.927026	P;P;P;P;P;P;P;P;D	0.69078	0.858;0.945;0.749;0.729;0.799;0.735;0.837;0.945;0.997	B;P;B;B;B;B;P;P;D	0.65233	0.334;0.549;0.334;0.334;0.343;0.444;0.535;0.468;0.933	D	0.92039	0.5639	10	0.52906	T	0.07	-51.0673	8.3659	0.32387	0.0:0.308:0.0:0.692	.	308;342;265;308;267;117;265;325;325	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	N	325;267;265;325	ENSP00000412639:K267N	ENSP00000305979:K265N	K	-	3	2	NT5C1B-RDH14;NT5C1B	18628931	0.998000	0.40836	0.988000	0.46212	0.965000	0.64279	0.491000	0.22419	0.478000	0.27488	0.528000	0.53228	AAA	NT5C1B	-	NULL	ENSG00000185013		0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	113	0.00	0	T			18765450	18765450	-1	no_errors	ENST00000359846	ensembl	human	known	69_37n	missense	171	15.35	31	SNP	1.000	A
NTRK1	4914	genome.wustl.edu	37	1	156843434	156843434	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:156843434G>T	ENST00000524377.1	+	8	901	c.860G>T	c.(859-861)aGt>aTt	p.S287I	NTRK1_ENST00000368196.3_Missense_Mutation_p.S287I|NTRK1_ENST00000358660.3_Missense_Mutation_p.S287I|NTRK1_ENST00000392302.2_Missense_Mutation_p.S257I	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	287					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTCCCGGCCAGTGTGCAGCTG	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												dbGAP		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													13.0	13.0	13.0					1																	156843434		2184	4261	6445	-	-	-	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.860G>T	1.37:g.156843434G>T	ENSP00000431418:p.Ser287Ile		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.S287I	ENST00000524377.1	37	c.860	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047669	0.19827	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.94	4.02	0.46733	.	0.449322	0.23328	N	0.049365	T	0.06508	0.0167	L	0.54323	1.7	0.23537	N	0.99746	B;B;B;B	0.14012	0.003;0.009;0.004;0.005	B;B;B;B	0.14578	0.011;0.002;0.006;0.006	T	0.18429	-1.0337	10	0.40728	T	0.16	.	8.1746	0.31275	0.073:0.0:0.6514:0.2756	.	287;287;287;257	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	I	257;287;287;287	ENSP00000376120:S257I;ENSP00000357179:S287I;ENSP00000431418:S287I;ENSP00000351486:S287I	ENSP00000351486:S287I	S	+	2	0	NTRK1	155110058	0.213000	0.23551	0.992000	0.48379	0.484000	0.33280	0.499000	0.22546	1.484000	0.48361	0.561000	0.74099	AGT	NTRK1	-	NULL	ENSG00000198400		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	8	0.00	0	G	NM_002529		156843434	156843434	+1	no_errors	ENST00000524377	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.217	T
NTRK1	4914	genome.wustl.edu	37	1	156843434	156843434	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr1:156843434G>T	ENST00000524377.1	+	8	901	c.860G>T	c.(859-861)aGt>aTt	p.S287I	NTRK1_ENST00000368196.3_Missense_Mutation_p.S287I|NTRK1_ENST00000358660.3_Missense_Mutation_p.S287I|NTRK1_ENST00000392302.2_Missense_Mutation_p.S257I	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	287					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTCCCGGCCAGTGTGCAGCTG	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												dbGAP		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													13.0	13.0	13.0					1																	156843434		2184	4261	6445	-	-	-	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.860G>T	1.37:g.156843434G>T	ENSP00000431418:p.Ser287Ile		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.S287I	ENST00000524377.1	37	c.860	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047669	0.19827	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.94	4.02	0.46733	.	0.449322	0.23328	N	0.049365	T	0.06508	0.0167	L	0.54323	1.7	0.23537	N	0.99746	B;B;B;B	0.14012	0.003;0.009;0.004;0.005	B;B;B;B	0.14578	0.011;0.002;0.006;0.006	T	0.18429	-1.0337	10	0.40728	T	0.16	.	8.1746	0.31275	0.073:0.0:0.6514:0.2756	.	287;287;287;257	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	I	257;287;287;287	ENSP00000376120:S257I;ENSP00000357179:S287I;ENSP00000431418:S287I;ENSP00000351486:S287I	ENSP00000351486:S287I	S	+	2	0	NTRK1	155110058	0.213000	0.23551	0.992000	0.48379	0.484000	0.33280	0.499000	0.22546	1.484000	0.48361	0.561000	0.74099	AGT	NTRK1	-	NULL	ENSG00000198400		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	9	0.00	0	G	NM_002529		156843434	156843434	+1	no_errors	ENST00000524377	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.217	T
TENM3	55714	genome.wustl.edu	37	4	183696086	183696086	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:183696086G>A	ENST00000511685.1	+	24	5207	c.5084G>A	c.(5083-5085)aGc>aAc	p.S1695N	TENM3_ENST00000406950.2_Missense_Mutation_p.S1695N|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1695					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTAAGAAACAGCTACCAGATT	0.443																																						dbGAP											0													31.0	31.0	31.0					4																	183696086		1868	4097	5965	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5084G>A	4.37:g.183696086G>A	ENSP00000424226:p.Ser1695Asn		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1695N	ENST00000511685.1	37	c.5084	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542642	0.65198	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86865	-2.18;-2.18	4.77	4.77	0.60923	.	.	.	.	.	D	0.83450	0.5257	M	0.76002	2.32	0.49798	D	0.999827	P	0.43826	0.818	B	0.32090	0.14	D	0.84188	0.0443	9	0.38643	T	0.18	.	12.7603	0.57361	0.079:0.0:0.921:0.0	.	1695	Q9P273	TEN3_HUMAN	N	1695	ENSP00000424226:S1695N;ENSP00000385276:S1695N	ENSP00000385276:S1695N	S	+	2	0	ODZ3	183933080	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.645000	0.61404	2.627000	0.88993	0.650000	0.86243	AGC	ODZ3	-	NULL	ENSG00000218336		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	67	0.00	0	G			183696086	183696086	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183696086	183696086	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr4:183696086G>A	ENST00000511685.1	+	24	5207	c.5084G>A	c.(5083-5085)aGc>aAc	p.S1695N	TENM3_ENST00000406950.2_Missense_Mutation_p.S1695N|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1695					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTAAGAAACAGCTACCAGATT	0.443																																						dbGAP											0													31.0	31.0	31.0					4																	183696086		1868	4097	5965	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5084G>A	4.37:g.183696086G>A	ENSP00000424226:p.Ser1695Asn		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1695N	ENST00000511685.1	37	c.5084	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542642	0.65198	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86865	-2.18;-2.18	4.77	4.77	0.60923	.	.	.	.	.	D	0.83450	0.5257	M	0.76002	2.32	0.49798	D	0.999827	P	0.43826	0.818	B	0.32090	0.14	D	0.84188	0.0443	9	0.38643	T	0.18	.	12.7603	0.57361	0.079:0.0:0.921:0.0	.	1695	Q9P273	TEN3_HUMAN	N	1695	ENSP00000424226:S1695N;ENSP00000385276:S1695N	ENSP00000385276:S1695N	S	+	2	0	ODZ3	183933080	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.645000	0.61404	2.627000	0.88993	0.650000	0.86243	AGC	ODZ3	-	NULL	ENSG00000218336		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	49	0.00	0	G			183696086	183696086	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	1.000	A
OR1J1	347168	genome.wustl.edu	37	9	125239431	125239431	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr9:125239431A>G	ENST00000259357.2	-	1	804	c.775T>C	c.(775-777)Tat>Cat	p.Y259H	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAAGAAAATAGAGACCAATA	0.443																																						dbGAP											0													144.0	138.0	140.0					9																	125239431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.775T>C	9.37:g.125239431A>G	ENSP00000259357:p.Tyr259His		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y259H	ENST00000259357.2	37	c.775	CCDS35120.1	9	.	.	.	.	.	.	.	.	.	.	A	9.542	1.113678	0.20795	.	.	ENSG00000136834	ENST00000259357	T	0.00291	8.27	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.00754	0.0025	M	0.84773	2.715	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.39583	-0.9607	10	0.66056	D	0.02	.	14.0604	0.64797	1.0:0.0:0.0:0.0	.	259	Q8NGS3	OR1J1_HUMAN	H	259	ENSP00000259357:Y259H	ENSP00000259357:Y259H	Y	-	1	0	OR1J1	124279252	0.923000	0.31300	0.978000	0.43139	0.005000	0.04900	2.248000	0.43160	2.223000	0.72356	0.487000	0.48397	TAT	OR1J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000136834		0.443	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	272	0.00	0	A			125239431	125239431	-1	no_errors	ENST00000259357	ensembl	human	known	69_37n	missense	186	22.82	55	SNP	0.147	G
OR2T29	343563	genome.wustl.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	-	CG	rs368626489|rs546109722		TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr1:248722428_248722429insCG	ENST00000328570.3	-	1	368_369	c.364_365insCG	c.(364-366)atgfs	p.M122fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	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)			GTCATAGGCCATGGTGGCTAGA	0.54																																						dbGAP											0										12,348		6,0,174						3.0	1.0			1	52,386		25,2,192	no	frameshift	OR2T29	NM_001004694.2		31,2,366	A1A1,A1R,RR		11.8721,3.3333,8.0201				64,734				-	-	-	SO:0001589	frameshift_variant	0				CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.364_365insCG	1.37:g.248722428_248722429insCG	ENSP00000331774:p.Met122fs			Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M122fs	ENST00000328570.3	37	c.365_364	CCDS55695.1	1																																																																																			OR2T29	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182783		0.540	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T29	HGNC	protein_coding	OTTHUMT00000097132.1	13	0.00	0	-	NM_001004694		248722428	248722429	-1	no_errors	ENST00000328570	ensembl	human	known	69_37n	frame_shift_ins	18	28.00	7	INS	1.000:0.998	CG
PEG3	5178	genome.wustl.edu	37	19	57335971	57335971	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:57335971G>T	ENST00000326441.9	-	4	416	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P18Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	18					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATACAGATTTGGGGCCCAGGA	0.458																																						dbGAP											0													62.0	67.0	66.0					19																	57335971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.53C>A	19.37:g.57335971G>T	ENSP00000326581:p.Pro18Gln		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P18Q	ENST00000326441.9	37	c.53	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074791	0.55646	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02737	4.18;4.18	4.29	2.13	0.27403	.	0.202088	0.24991	N	0.033994	T	0.04907	0.0132	N	0.24115	0.695	.	.	.	D	0.76494	0.999	D	0.64042	0.921	T	0.42224	-0.9464	8	.	.	.	-6.3063	7.0128	0.24871	0.221:0.0:0.779:0.0	.	18	Q9GZU2	PEG3_HUMAN	Q	18	ENSP00000326581:P18Q;ENSP00000403051:P18Q	.	P	-	2	0	ZIM2	62027783	0.017000	0.18338	0.485000	0.27403	0.996000	0.88848	0.644000	0.24766	0.535000	0.28714	0.655000	0.94253	CCA	PEG3	-	NULL	ENSG00000198300		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	160	0.00	0	G			57335971	57335971	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	112	28.21	44	SNP	0.540	T
PEG3	5178	genome.wustl.edu	37	19	57335971	57335971	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr19:57335971G>T	ENST00000326441.9	-	4	416	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P18Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	18					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATACAGATTTGGGGCCCAGGA	0.458																																						dbGAP											0													62.0	67.0	66.0					19																	57335971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.53C>A	19.37:g.57335971G>T	ENSP00000326581:p.Pro18Gln		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P18Q	ENST00000326441.9	37	c.53	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074791	0.55646	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02737	4.18;4.18	4.29	2.13	0.27403	.	0.202088	0.24991	N	0.033994	T	0.04907	0.0132	N	0.24115	0.695	.	.	.	D	0.76494	0.999	D	0.64042	0.921	T	0.42224	-0.9464	8	.	.	.	-6.3063	7.0128	0.24871	0.221:0.0:0.779:0.0	.	18	Q9GZU2	PEG3_HUMAN	Q	18	ENSP00000326581:P18Q;ENSP00000403051:P18Q	.	P	-	2	0	ZIM2	62027783	0.017000	0.18338	0.485000	0.27403	0.996000	0.88848	0.644000	0.24766	0.535000	0.28714	0.655000	0.94253	CCA	PEG3	-	NULL	ENSG00000198300		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	120	0.83	1	G			57335971	57335971	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	112	28.21	44	SNP	0.540	T
PHC2	1912	genome.wustl.edu	37	1	33797024	33797024	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr1:33797024T>G	ENST00000257118.5	-	11	1981	c.1928A>C	c.(1927-1929)gAg>gCg	p.E643A	PHC2_ENST00000373422.3_Missense_Mutation_p.E249A|PHC2_ENST00000431992.1_Missense_Mutation_p.E614A|PHC2_ENST00000373416.1_Missense_Mutation_p.E108A|PHC2_ENST00000419414.2_Missense_Mutation_p.E644A|PHC2_ENST00000373418.3_Missense_Mutation_p.E108A|PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	643					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCCACAGAGCTCACACTTGAG	0.527																																						dbGAP											0													123.0	134.0	130.0					1																	33797024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1928A>C	1.37:g.33797024T>G	ENSP00000257118:p.Glu643Ala		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E644A	ENST00000257118.5	37	c.1931	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932953	0.92458	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.62639	1.24;0.72;0.01;1.13	6.04	6.04	0.98038	Zinc finger, FCS-type (1);	0.099373	0.64402	D	0.000002	T	0.81522	0.4840	M	0.86502	2.82	0.58432	D	0.999995	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.81914	0.989;0.989;0.989;0.995	D	0.84747	0.0754	10	0.87932	D	0	-24.5846	14.5284	0.67905	0.0:0.0:0.0:1.0	.	644;615;643;58	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	A	614;643;249;108;221;644;108	ENSP00000389436:E614A;ENSP00000257118:E643A;ENSP00000362521:E249A;ENSP00000391440:E644A	ENSP00000257118:E643A	E	-	2	0	PHC2	33569611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.535000	0.82014	2.317000	0.78254	0.459000	0.35465	GAG	PHC2	-	pfscan_Znf_FCS	ENSG00000134686		0.527	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	96	0.00	0	T	NM_198040		33797024	33797024	-1	no_errors	ENST00000419414	ensembl	human	known	69_37n	missense	82	34.92	44	SNP	1.000	G
PHC2	1912	genome.wustl.edu	37	1	33797024	33797025	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:33797024_33797025TC>GT	ENST00000257118.5	-	11	1980_1981	c.1927_1928GA>AC	c.(1927-1929)GAg>ACg	p.E643T	PHC2_ENST00000373422.3_Missense_Mutation_p.E249T|PHC2_ENST00000431992.1_Missense_Mutation_p.E614T|PHC2_ENST00000373416.1_Missense_Mutation_p.E108T|PHC2_ENST00000419414.2_Missense_Mutation_p.E644T|PHC2_ENST00000373418.3_Missense_Mutation_p.E108T|PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	643					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCCACAGAGCTCACACTTGAGT	0.53																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1927_1928delinsGT	1.37:g.33797024_33797025delinsGT	ENSP00000257118:p.Glu643Thr		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E644A|p.E644K	ENST00000257118.5	37	c.1931|c.1930	CCDS378.1	1																																																																																			PHC2	-	pfscan_Znf_FCS	ENSG00000134686		0.530	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	119|121	0.00	0	T|C	NM_198040		33797024|33797025	33797024|33797025	-1	no_errors	ENST00000419414	ensembl	human	known	69_37n	missense	82|81	34.92|35.20	44	SNP	1.000	G|T
PKHD1	5314	genome.wustl.edu	37	6	51484286	51484286	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr6:51484286T>A	ENST00000371117.3	-	67	12093	c.11818A>T	c.(11818-11820)Aac>Tac	p.N3940Y	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3940					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGCACTGGTTCACCTTGCCC	0.473																																						dbGAP											0													90.0	87.0	88.0					6																	51484286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11818A>T	6.37:g.51484286T>A	ENSP00000360158:p.Asn3940Tyr		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.N3940Y	ENST00000371117.3	37	c.11818	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807802	0.31961	.	.	ENSG00000170927	ENST00000371117	D	0.88975	-2.45	5.41	2.94	0.34122	.	0.512995	0.18125	N	0.150901	T	0.76054	0.3934	L	0.56769	1.78	0.09310	N	1	P	0.37015	0.578	B	0.37015	0.239	T	0.70417	-0.4877	10	0.87932	D	0	.	4.9874	0.14196	0.0:0.0941:0.1882:0.7177	.	3940	P08F94	PKHD1_HUMAN	Y	3940	ENSP00000360158:N3940Y	ENSP00000360158:N3940Y	N	-	1	0	PKHD1	51592245	0.183000	0.23186	0.002000	0.10522	0.004000	0.04260	0.450000	0.21762	0.948000	0.37687	0.460000	0.39030	AAC	PKHD1	-	NULL	ENSG00000170927		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	23	0.00	0	T	NM_138694		51484286	51484286	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	31	42.59	23	SNP	0.001	A
PKHD1	5314	genome.wustl.edu	37	6	51484286	51484286	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr6:51484286T>A	ENST00000371117.3	-	67	12093	c.11818A>T	c.(11818-11820)Aac>Tac	p.N3940Y	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3940					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGCACTGGTTCACCTTGCCC	0.473																																						dbGAP											0													90.0	87.0	88.0					6																	51484286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11818A>T	6.37:g.51484286T>A	ENSP00000360158:p.Asn3940Tyr		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.N3940Y	ENST00000371117.3	37	c.11818	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807802	0.31961	.	.	ENSG00000170927	ENST00000371117	D	0.88975	-2.45	5.41	2.94	0.34122	.	0.512995	0.18125	N	0.150901	T	0.76054	0.3934	L	0.56769	1.78	0.09310	N	1	P	0.37015	0.578	B	0.37015	0.239	T	0.70417	-0.4877	10	0.87932	D	0	.	4.9874	0.14196	0.0:0.0941:0.1882:0.7177	.	3940	P08F94	PKHD1_HUMAN	Y	3940	ENSP00000360158:N3940Y	ENSP00000360158:N3940Y	N	-	1	0	PKHD1	51592245	0.183000	0.23186	0.002000	0.10522	0.004000	0.04260	0.450000	0.21762	0.948000	0.37687	0.460000	0.39030	AAC	PKHD1	-	NULL	ENSG00000170927		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	26	0.00	0	T	NM_138694		51484286	51484286	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	31	42.59	23	SNP	0.001	A
PKHD1L1	93035	genome.wustl.edu	37	8	110519976	110519976	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr8:110519976delG	ENST00000378402.5	+	69	11183	c.11079delG	c.(11077-11079)ctgfs	p.L3693fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3693					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTCCTTTCTGGGGAATGCTG	0.433										HNSCC(38;0.096)																												dbGAP											0													116.0	111.0	112.0					8																	110519976		1886	4119	6005	-	-	-	SO:0001589	frameshift_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11079delG	8.37:g.110519976delG	ENSP00000367655:p.Leu3693fs		Q567P2|Q9UF27	Frame_Shift_Del	DEL	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.N3695fs	ENST00000378402.5	37	c.11079	CCDS47911.1	8																																																																																			PKHD1L1	-	NULL	ENSG00000205038		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	275	0.00	0	G	NM_177531		110519976	110519976	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	frame_shift_del	115	26.58	42	DEL	1.000	-
PLXNB3	5365	genome.wustl.edu	37	X	153032801	153032801	+	Silent	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:153032801G>A	ENST00000361971.5	+	3	633	c.519G>A	c.(517-519)acG>acA	p.T173T	PLXNB3_ENST00000538966.1_Silent_p.T196T|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	173	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGGCAACGGTGGGGCTGG	0.701																																						dbGAP											0													20.0	20.0	20.0					X																	153032801		2189	4293	6482	-	-	-	SO:0001819	synonymous_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.519G>A	X.37:g.153032801G>A			B7Z3E6|F5H773|Q9HDA4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.T196	ENST00000361971.5	37	c.588	CCDS14729.1	X																																																																																			PLXNB3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000198753		0.701	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	8	0.00	0	G			153032801	153032801	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	silent	40	24.53	13	SNP	0.081	A
PMS1	5378	genome.wustl.edu	37	2	190718672	190718672	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:190718672G>A	ENST00000441310.2	+	8	1063	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	PMS1_ENST00000418224.3_Missense_Mutation_p.R101Q|PMS1_ENST00000409823.3_Missense_Mutation_p.R238Q|PMS1_ENST00000432292.3_Missense_Mutation_p.R101Q|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.R277Q	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	277					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TAGTTAATCCGACATCATTAC	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													62.0	58.0	59.0					2																	190718672		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.830G>A	2.37:g.190718672G>A	ENSP00000406490:p.Arg277Gln		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N	p.R277Q	ENST00000441310.2	37	c.830	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706765	0.68615	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;T;D;D;D;D	0.84800	-1.9;-1.9;-1.44;-1.9;-1.9;-1.9;-1.9	4.6	4.6	0.57074	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.120538	0.53938	D	0.000041	D	0.88217	0.6377	M	0.71581	2.175	0.53688	D	0.99997	D;D;D;D;D;P;D	0.57571	0.977;0.98;0.977;0.977;0.959;0.95;0.977	P;P;P;P;P;P;P	0.55508	0.745;0.745;0.581;0.777;0.581;0.59;0.581	D	0.86220	0.1630	10	0.30078	T	0.28	-8.6855	12.4281	0.55559	0.0817:0.0:0.9183:0.0	.	277;238;238;62;238;277;277	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	Q	101;277;101;238;277;101;216;62	ENSP00000406490:R277Q;ENSP00000404492:R101Q;ENSP00000387125:R238Q;ENSP00000401064:R277Q;ENSP00000398378:R101Q;ENSP00000389938:R216Q;ENSP00000387169:R62Q	ENSP00000376149:R101Q	R	+	2	0	PMS1	190426917	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.036000	0.64164	2.531000	0.85337	0.557000	0.71058	CGA	PMS1	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	ENSG00000064933		0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	344	0.00	0	G			190718672	190718672	+1	no_errors	ENST00000441310	ensembl	human	known	69_37n	missense	94	28.24	37	SNP	1.000	A
PNPLA3	80339	genome.wustl.edu	37	22	44340638	44340639	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr22:44340638_44340639delTT	ENST00000216180.3	+	8	1353_1354	c.1180_1181delTT	c.(1180-1182)ttcfs	p.F394fs	PNPLA3_ENST00000423180.2_Frame_Shift_Del_p.F390fs	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	394					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCACAGGTGTTCACTCGAGTG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1180_1181delTT	22.37:g.44340638_44340639delTT	ENSP00000216180:p.Phe394fs		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Frame_Shift_Del	DEL	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.F394fs	ENST00000216180.3	37	c.1180_1181	CCDS14054.1	22																																																																																			PNPLA3	-	NULL	ENSG00000100344		0.559	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	132	0.00	0	TT	NM_025225		44340638	44340639	+1	no_errors	ENST00000216180	ensembl	human	known	69_37n	frame_shift_del	219	17.23	46	DEL	0.000:0.000	-
PNPLA3	80339	genome.wustl.edu	37	22	44340638	44340639	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr22:44340638_44340639delTT	ENST00000216180.3	+	8	1353_1354	c.1180_1181delTT	c.(1180-1182)ttcfs	p.F394fs	PNPLA3_ENST00000423180.2_Frame_Shift_Del_p.F390fs	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	394					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCACAGGTGTTCACTCGAGTG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1180_1181delTT	22.37:g.44340638_44340639delTT	ENSP00000216180:p.Phe394fs		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Frame_Shift_Del	DEL	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.F394fs	ENST00000216180.3	37	c.1180_1181	CCDS14054.1	22																																																																																			PNPLA3	-	NULL	ENSG00000100344		0.559	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	215	0.00	0	TT	NM_025225		44340638	44340639	+1	no_errors	ENST00000216180	ensembl	human	known	69_37n	frame_shift_del	219	17.23	46	DEL	0.000:0.000	-
PNPLA3	80339	genome.wustl.edu	37	22	44340640	44340641	+	Frame_Shift_Ins	INS	-	-	A	rs141021083	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr22:44340640_44340641insA	ENST00000216180.3	+	8	1355_1356	c.1182_1183insA	c.(1183-1185)actfs	p.T395fs	PNPLA3_ENST00000423180.2_Frame_Shift_Ins_p.T391fs	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	395					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CACAGGTGTTCACTCGAGTGCT	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1183dupA	22.37:g.44340641_44340641dupA	ENSP00000216180:p.Thr395fs		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Frame_Shift_Ins	INS	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.T394fs	ENST00000216180.3	37	c.1182_1183	CCDS14054.1	22																																																																																			PNPLA3	-	NULL	ENSG00000100344		0.559	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	130	0.00	0	-	NM_025225		44340640	44340641	+1	no_errors	ENST00000216180	ensembl	human	known	69_37n	frame_shift_ins	223	17.71	48	INS	0.000:0.000	A
PNPLA3	80339	genome.wustl.edu	37	22	44340640	44340641	+	Frame_Shift_Ins	INS	-	-	A	rs141021083	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr22:44340640_44340641insA	ENST00000216180.3	+	8	1355_1356	c.1182_1183insA	c.(1183-1185)actfs	p.T395fs	PNPLA3_ENST00000423180.2_Frame_Shift_Ins_p.T391fs	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	395					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CACAGGTGTTCACTCGAGTGCT	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1183dupA	22.37:g.44340641_44340641dupA	ENSP00000216180:p.Thr395fs		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Frame_Shift_Ins	INS	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.T394fs	ENST00000216180.3	37	c.1182_1183	CCDS14054.1	22																																																																																			PNPLA3	-	NULL	ENSG00000100344		0.559	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	218	0.00	0	-	NM_025225		44340640	44340641	+1	no_errors	ENST00000216180	ensembl	human	known	69_37n	frame_shift_ins	223	17.71	48	INS	0.000:0.000	A
POLQ	10721	genome.wustl.edu	37	3	121207554	121207554	+	Silent	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr3:121207554A>G	ENST00000264233.5	-	16	4352	c.4224T>C	c.(4222-4224)gaT>gaC	p.D1408D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1408					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAGTCAGGATATCAACCCCAT	0.388								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													89.0	87.0	88.0					3																	121207554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4224T>C	3.37:g.121207554A>G			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.D1408	ENST00000264233.5	37	c.4224	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.388	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	200	0.00	0	A	NM_199420		121207554	121207554	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	silent	98	30.99	44	SNP	0.000	G
POLQ	10721	genome.wustl.edu	37	3	121207554	121207554	+	Silent	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr3:121207554A>G	ENST00000264233.5	-	16	4352	c.4224T>C	c.(4222-4224)gaT>gaC	p.D1408D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1408					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAGTCAGGATATCAACCCCAT	0.388								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													89.0	87.0	88.0					3																	121207554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4224T>C	3.37:g.121207554A>G			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.D1408	ENST00000264233.5	37	c.4224	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.388	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	155	0.00	0	A	NM_199420		121207554	121207554	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	silent	98	30.99	44	SNP	0.000	G
POLR1C	9533	genome.wustl.edu	37	6	43487161	43487161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr6:43487161C>T	ENST00000372389.3	+	3	320	c.232C>T	c.(232-234)Cga>Tga	p.R78*	RP3-337H4.9_ENST00000607571.1_RNA|YIPF3_ENST00000506469.1_5'Flank|POLR1C_ENST00000304004.3_Nonsense_Mutation_p.R78*|POLR1C_ENST00000372344.2_Nonsense_Mutation_p.R78*|YIPF3_ENST00000372422.2_5'Flank	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	78					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGCTTTTCGACGAATTCTGCT	0.478																																						dbGAP											0													142.0	113.0	123.0					6																	43487161		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.232C>T	6.37:g.43487161C>T	ENSP00000361465:p.Arg78*		O75395|Q5JTE3	Nonsense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.R78*	ENST00000372389.3	37	c.232	CCDS4901.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.317272|3.317272	0.60524|0.60524	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000428025;ENST00000372389;ENST00000372344;ENST00000304004|ENST00000423780	.|.	.|.	.|.	5.28|5.28	1.66|1.66	0.24008|0.24008	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.50905	.|0.1643	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53725	.|-0.8398	.|3	0.02654|.	T|.	1|.	-9.3531|-9.3531	15.4051|15.4051	0.74871|0.74871	0.4334:0.5666:0.0:0.0|0.4334:0.5666:0.0:0.0	.|.	.|.	.|.	.|.	X|M	23;78;78;78|77	.|.	ENSP00000307212:R78X|.	R|T	+|+	1|2	2|0	POLR1C|POLR1C	43595139|43595139	0.989000|0.989000	0.36119|0.36119	0.073000|0.073000	0.20177|0.20177	0.547000|0.547000	0.35210|0.35210	2.873000|2.873000	0.48475|0.48475	0.404000|0.404000	0.25506|0.25506	-0.319000|-0.319000	0.08680|0.08680	CGA|ACG	POLR1C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.478	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	225	0.00	0	C	NM_004875		43487161	43487161	+1	no_errors	ENST00000372389	ensembl	human	known	69_37n	nonsense	151	25.62	52	SNP	0.105	T
PPM1J	333926	genome.wustl.edu	37	1	113253093	113253093	+	Silent	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:113253093A>G	ENST00000309276.6	-	9	1534	c.1359T>C	c.(1357-1359)aaT>aaC	p.N453N	PPM1J_ENST00000464951.1_Silent_p.N247N|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Nonstop_Mutation_p.*135R|PPM1J_ENST00000359994.4_Silent_p.N247N	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	453	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGTGGTCATTAGGCTCAT	0.562																																						dbGAP											0													115.0	98.0	104.0					1																	113253093		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1359T>C	1.37:g.113253093A>G			B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.N453	ENST00000309276.6	37	c.1359	CCDS855.2	1																																																																																			PPM1J	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000155367		0.562	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	124	0.00	0	A	NM_005167		113253093	113253093	-1	no_errors	ENST00000309276	ensembl	human	known	69_37n	silent	130	26.14	46	SNP	1.000	G
PPFIA4	8497	genome.wustl.edu	37	1	203030799	203030799	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr1:203030799G>T	ENST00000447715.2	+	29	3242	c.2801G>T	c.(2800-2802)tGg>tTg	p.W934L	PPFIA4_ENST00000414050.2_Missense_Mutation_p.W663L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.W450L|PPFIA4_ENST00000599966.1_Intron|PPFIA4_ENST00000295706.4_Intron|PPFIA4_ENST00000367240.2_Missense_Mutation_p.W935L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	934					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGGGCAGCTGGGCTCAGGTA	0.547																																						dbGAP											0													61.0	60.0	60.0					1																	203030799		1968	4143	6111	-	-	-	SO:0001583	missense	0			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2801G>T	1.37:g.203030799G>T	ENSP00000402576:p.Trp934Leu		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM	p.W935L	ENST00000447715.2	37	c.2804		1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043137	0.93685	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000414050;ENST00000272198	T;T;T;T	0.22539	2.3;1.99;1.98;1.95	5.39	5.39	0.77823	.	0.000000	0.38605	U	0.001633	T	0.45518	0.1346	M	0.62723	1.935	0.80722	D	1	B;P;D	0.76494	0.394;0.939;0.999	B;P;D	0.70227	0.177;0.781;0.968	T	0.22661	-1.0210	10	0.54805	T	0.06	-20.0694	18.9488	0.92632	0.0:0.0:1.0:0.0	.	663;934;450	B4DIS5;B1N949;O75335	.;.;LIPA4_HUMAN	L	935;934;663;450	ENSP00000356209:W935L;ENSP00000402576:W934L;ENSP00000400379:W663L;ENSP00000272198:W450L	ENSP00000272198:W450L	W	+	2	0	PPFIA4	201297422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.921000	0.92784	2.804000	0.96469	0.655000	0.94253	TGG	PPFIA4	-	NULL	ENSG00000143847		0.547	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	PPFIA4	HGNC	protein_coding	OTTHUMT00000462949.1	152	0.65	1	G	NM_015053		203030799	203030799	+1	no_errors	ENST00000367240	ensembl	human	known	69_37n	missense	120	43.93	94	SNP	1.000	T
PTGER4	5734	genome.wustl.edu	37	5	40681725	40681725	+	Silent	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr5:40681725G>A	ENST00000302472.3	+	2	1654	c.630G>A	c.(628-630)ctG>ctA	p.L210L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	210					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCGGCGCGCTGCTCCGCATGC	0.706																																						dbGAP											0													21.0	18.0	19.0					5																	40681725		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.630G>A	5.37:g.40681725G>A			Q3MJ87	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.L210	ENST00000302472.3	37	c.630	CCDS3930.1	5																																																																																			PTGER4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prost_EP4_rcpt	ENSG00000171522		0.706	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	9	0.00	0	G	NM_000958		40681725	40681725	+1	no_errors	ENST00000302472	ensembl	human	known	69_37n	silent	4	55.56	5	SNP	1.000	A
PXDN	7837	genome.wustl.edu	37	2	1667407	1667407	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:1667407C>A	ENST00000252804.4	-	12	1587	c.1537G>T	c.(1537-1539)Gtc>Ttc	p.V513F	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	513	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGGCCACGACCTTCTGGGAG	0.547																																						dbGAP											0													84.0	92.0	89.0					2																	1667407		2032	4166	6198	-	-	-	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1537G>T	2.37:g.1667407C>A	ENSP00000252804:p.Val513Phe		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.V513F	ENST00000252804.4	37	c.1537	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985915|3.985915	0.74589|0.74589	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.67698	.|-0.28	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.527322	.|0.20771	.|N	.|0.086000	T|T	0.68732|0.68732	0.3033|0.3033	L|L	0.53729|0.53729	1.69|1.69	0.29317|0.29317	N|N	0.867606|0.867606	.|P;P	.|0.44877	.|0.845;0.785	.|P;P	.|0.51266	.|0.664;0.616	T|T	0.69749|0.69749	-0.5061|-0.5061	5|10	.|0.72032	.|D	.|0.01	-32.7278|-32.7278	7.5842|7.5842	0.27982|0.27982	0.0:0.8056:0.0:0.1944|0.0:0.8056:0.0:0.1944	.|.	.|513;513	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	S|F	508|513	.|ENSP00000252804:V513F	.|ENSP00000252804:V513F	R|V	-|-	3|1	2|0	PXDN|PXDN	1646414|1646414	0.907000|0.907000	0.30839|0.30839	0.989000|0.989000	0.46669|0.46669	0.920000|0.920000	0.55202|0.55202	2.937000|2.937000	0.48979|0.48979	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	AGG|GTC	PXDN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000130508		0.547	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	14	0.00	0	C	XM_056455		1667407	1667407	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	missense	38	27.78	15	SNP	0.991	A
QRICH2	84074	genome.wustl.edu	37	17	74289101	74289101	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:74289101A>C	ENST00000262765.5	-	4	1388	c.1209T>G	c.(1207-1209)gaT>gaG	p.D403E		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	403	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACTGGATCAAATCATGCTGCT	0.522																																						dbGAP											0													79.0	69.0	72.0					17																	74289101		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1209T>G	17.37:g.74289101A>C	ENSP00000262765:p.Asp403Glu		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.D403E	ENST00000262765.5	37	c.1209	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314058	0.23908	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09538	2.97	5.38	-1.4	0.08968	.	.	.	.	.	T	0.06096	0.0158	L	0.29908	0.895	0.09310	N	1	B;B	0.24721	0.11;0.052	B;B	0.20184	0.028;0.018	T	0.39840	-0.9594	9	0.48119	T	0.1	0.0017	0.4323	0.00473	0.3976:0.1329:0.2318:0.2377	.	403;403	B5MD94;Q9H0J4	.;QRIC2_HUMAN	E	403	ENSP00000262765:D403E	ENSP00000262765:D403E	D	-	3	2	QRICH2	71800696	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.422000	0.02453	-0.219000	0.10003	0.459000	0.35465	GAT	QRICH2	-	NULL	ENSG00000129646		0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	98	0.00	0	A	NM_032134		74289101	74289101	-1	no_errors	ENST00000262765	ensembl	human	known	69_37n	missense	149	20.42	39	SNP	0.000	C
QRICH2	84074	genome.wustl.edu	37	17	74289101	74289101	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr17:74289101A>C	ENST00000262765.5	-	4	1388	c.1209T>G	c.(1207-1209)gaT>gaG	p.D403E		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	403	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACTGGATCAAATCATGCTGCT	0.522																																						dbGAP											0													79.0	69.0	72.0					17																	74289101		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1209T>G	17.37:g.74289101A>C	ENSP00000262765:p.Asp403Glu		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.D403E	ENST00000262765.5	37	c.1209	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314058	0.23908	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09538	2.97	5.38	-1.4	0.08968	.	.	.	.	.	T	0.06096	0.0158	L	0.29908	0.895	0.09310	N	1	B;B	0.24721	0.11;0.052	B;B	0.20184	0.028;0.018	T	0.39840	-0.9594	9	0.48119	T	0.1	0.0017	0.4323	0.00473	0.3976:0.1329:0.2318:0.2377	.	403;403	B5MD94;Q9H0J4	.;QRIC2_HUMAN	E	403	ENSP00000262765:D403E	ENSP00000262765:D403E	D	-	3	2	QRICH2	71800696	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.422000	0.02453	-0.219000	0.10003	0.459000	0.35465	GAT	QRICH2	-	NULL	ENSG00000129646		0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	99	0.00	0	A	NM_032134		74289101	74289101	-1	no_errors	ENST00000262765	ensembl	human	known	69_37n	missense	149	20.42	39	SNP	0.000	C
RB1	5925	genome.wustl.edu	37	13	48881488	48881489	+	Frame_Shift_Ins	INS	-	-	AG	rs587778862		TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr13:48881488_48881489insAG	ENST00000267163.4	+	2	348_349	c.210_211insAG	c.(211-213)agafs	p.R71fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	71					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.V70fs*39(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATCATGTCAGAGAGAGAGC	0.312		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	19	Whole gene deletion(15)|Unknown(3)|Insertion - Frameshift(1)	bone(10)|eye(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|endometrium(1)|stomach(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.219_220dupAG	13.37:g.48881497_48881498dupAG	ENSP00000267163:p.Arg71fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.A73fs	ENST00000267163.4	37	c.210_211	CCDS31973.1	13																																																																																			RB1	-	superfamily_FH2_actin-bd,superfamily_Cyclin-like	ENSG00000139687		0.312	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	644	0.00	0	-			48881488	48881489	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	frame_shift_ins	172	33.59	87	INS	1.000:1.000	AG
RB1	5925	genome.wustl.edu	37	13	48881488	48881489	+	Frame_Shift_Ins	INS	-	-	AG	rs587778862		TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr13:48881488_48881489insAG	ENST00000267163.4	+	2	348_349	c.210_211insAG	c.(211-213)agafs	p.R71fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	71					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.V70fs*39(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGATCATGTCAGAGAGAGAGC	0.312		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	19	Whole gene deletion(15)|Unknown(3)|Insertion - Frameshift(1)	bone(10)|eye(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|endometrium(1)|stomach(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.219_220dupAG	13.37:g.48881497_48881498dupAG	ENSP00000267163:p.Arg71fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.A73fs	ENST00000267163.4	37	c.210_211	CCDS31973.1	13																																																																																			RB1	-	superfamily_FH2_actin-bd,superfamily_Cyclin-like	ENSG00000139687		0.312	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	317	0.00	0	-			48881488	48881489	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	frame_shift_ins	172	33.59	87	INS	1.000:1.000	AG
RIF1	55183	genome.wustl.edu	37	2	152324648	152324648	+	Silent	SNP	T	T	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:152324648T>G	ENST00000243326.5	+	30	7218	c.6735T>G	c.(6733-6735)acT>acG	p.T2245T	RIF1_ENST00000453091.2_Silent_p.T2245T|RIF1_ENST00000428287.2_Silent_p.T2245T|RIF1_ENST00000430328.2_Silent_p.T2245T|RIF1_ENST00000444746.2_Silent_p.T2245T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTTCTCCTACTACACAATCTA	0.348																																						dbGAP											0													68.0	68.0	68.0					2																	152324648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6735T>G	2.37:g.152324648T>G			A0AVS0|Q9NS16	Missense_Mutation	SNP	NULL	p.L519R	ENST00000243326.5	37	c.1556	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	242	0.41	1	T			152324648	152324648	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454583	ensembl	human	known	69_37n	missense	92	25.81	32	SNP	0.259	G
RIF1	55183	genome.wustl.edu	37	2	152324648	152324648	+	Silent	SNP	T	T	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr2:152324648T>G	ENST00000243326.5	+	30	7218	c.6735T>G	c.(6733-6735)acT>acG	p.T2245T	RIF1_ENST00000453091.2_Silent_p.T2245T|RIF1_ENST00000428287.2_Silent_p.T2245T|RIF1_ENST00000430328.2_Silent_p.T2245T|RIF1_ENST00000444746.2_Silent_p.T2245T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTTCTCCTACTACACAATCTA	0.348																																						dbGAP											0													68.0	68.0	68.0					2																	152324648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6735T>G	2.37:g.152324648T>G			A0AVS0|Q9NS16	Missense_Mutation	SNP	NULL	p.L519R	ENST00000243326.5	37	c.1556	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	130	0.00	0	T			152324648	152324648	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454583	ensembl	human	known	69_37n	missense	92	25.81	32	SNP	0.259	G
RPGR	6103	genome.wustl.edu	37	X	38145532	38145534	+	Intron	DEL	TCC	TCC	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:38145532_38145534delTCC	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000378505.2_In_Frame_Del_p.906_907EE>E|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttctccttcctcttctccct	0.591																																						dbGAP											0									,	108,2863		1,93,13,1241,288					,	0.4	0.0			6	280,4582		10,196,64,1673,1040	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	11,289,77,2914,1328	A1A1,A1R,A1,RR,R		5.7589,3.6351,4.9534	,	,		388,7445				-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+812GGA>-	X.37:g.38145532_38145534delTCC			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E907in_frame_del	ENST00000339363.3	37	c.2720_2718		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.591	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		21	0.00	0	TCC	NM_000328		38145532	38145534	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	in_frame_del	15	34.78	8	DEL	0.994:0.977:0.978	-
RPS6KA3	6197	genome.wustl.edu	37	X	20195139	20195139	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:20195139G>C	ENST00000379565.3	-	11	1116	c.909C>G	c.(907-909)ttC>ttG	p.F303L	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.F275L|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.F275L|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.F274L	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	303	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GATTTCGCTTGAAAAGCATTC	0.318																																						dbGAP											0													60.0	62.0	62.0					X																	20195139		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.909C>G	X.37:g.20195139G>C	ENSP00000368884:p.Phe303Leu		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F303L	ENST00000379565.3	37	c.909	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839793	0.32513	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.64	4.77	0.60923	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	0.10423	0.0255	N	0.00038	-2.52	0.80722	D	1	B;P;D;P	0.89917	0.334;0.527;1.0;0.582	B;B;D;B	0.87578	0.183;0.115;0.998;0.122	T	0.52895	-0.8514	10	0.02654	T	1	.	13.8919	0.63744	0.0751:0.0:0.9249:0.0	.	275;274;275;303	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	L	303;275;274;275	ENSP00000368884:F303L;ENSP00000440220:F275L;ENSP00000368865:F274L;ENSP00000444837:F275L	ENSP00000368865:F274L	F	-	3	2	RPS6KA3	20105060	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.781000	0.99029	1.145000	0.42336	0.513000	0.50165	TTC	RPS6KA3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000177189		0.318	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	237	0.00	0	G	NM_004586		20195139	20195139	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	missense	80	14.89	14	SNP	1.000	C
SLC46A1	113235	genome.wustl.edu	37	17	26723044	26723044	+	3'UTR	DEL	A	A	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:26723044delA	ENST00000440501.1	-	0	5103				SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000457710.3_Splice_Site_p.K648fs|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CAACGGTATCAAGTGAGCCCC	0.587																																						dbGAP											0													98.0	95.0	96.0					17																	26723044		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3628T>-	17.37:g.26723044delA			Q1HE20|Q86T92|Q8TEG3|Q96FL0	Frame_Shift_Del	DEL	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.K648fs	ENST00000440501.1	37	c.1942		17																																																																																			SARM1	-	smart_TIR_dom	ENSG00000004139		0.587	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SARM1	HGNC	protein_coding		41	0.00	0	A	NM_080669		26723044	26723044	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	frame_shift_del	82	24.07	26	DEL	1.000	-
SEC23B	10483	genome.wustl.edu	37	20	18507096	18507096	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr20:18507096G>C	ENST00000336714.3	+	8	1346	c.914G>C	c.(913-915)gGa>gCa	p.G305A	SEC23B_ENST00000262544.2_Missense_Mutation_p.G305A|SEC23B_ENST00000377465.1_Missense_Mutation_p.G305A|SEC23B_ENST00000377475.3_Missense_Mutation_p.G305A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGGTGGTTGGAGATGAATTA	0.468																																						dbGAP											0													113.0	98.0	103.0					20																	18507096		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.914G>C	20.37:g.18507096G>C	ENSP00000338844:p.Gly305Ala		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G305A	ENST00000336714.3	37	c.914	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662831	0.88251	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.23	5.23	0.72850	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.79258	2.445	0.80722	D	1	P;P	0.37731	0.571;0.607	B;B	0.42959	0.403;0.403	T	0.81967	-0.0690	10	0.59425	D	0.04	-16.8757	17.9904	0.89166	0.0:0.0:1.0:0.0	.	287;305	B4DJW8;Q15437	.;SC23B_HUMAN	A	305	ENSP00000403971:G305A;ENSP00000338844:G305A;ENSP00000262544:G305A;ENSP00000366695:G305A;ENSP00000366685:G305A	ENSP00000262544:G305A	G	+	2	0	SEC23B	18455096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.719000	0.93026	0.555000	0.69702	GGA	SEC23B	-	pfam_Sec23/24_trunk_dom	ENSG00000101310		0.468	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	192	0.00	0	G			18507096	18507096	+1	no_errors	ENST00000262544	ensembl	human	known	69_37n	missense	133	24.00	42	SNP	1.000	C
SEC23B	10483	genome.wustl.edu	37	20	18507096	18507096	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr20:18507096G>C	ENST00000336714.3	+	8	1346	c.914G>C	c.(913-915)gGa>gCa	p.G305A	SEC23B_ENST00000262544.2_Missense_Mutation_p.G305A|SEC23B_ENST00000377465.1_Missense_Mutation_p.G305A|SEC23B_ENST00000377475.3_Missense_Mutation_p.G305A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGGTGGTTGGAGATGAATTA	0.468																																						dbGAP											0													113.0	98.0	103.0					20																	18507096		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.914G>C	20.37:g.18507096G>C	ENSP00000338844:p.Gly305Ala		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G305A	ENST00000336714.3	37	c.914	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662831	0.88251	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.23	5.23	0.72850	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.79258	2.445	0.80722	D	1	P;P	0.37731	0.571;0.607	B;B	0.42959	0.403;0.403	T	0.81967	-0.0690	10	0.59425	D	0.04	-16.8757	17.9904	0.89166	0.0:0.0:1.0:0.0	.	287;305	B4DJW8;Q15437	.;SC23B_HUMAN	A	305	ENSP00000403971:G305A;ENSP00000338844:G305A;ENSP00000262544:G305A;ENSP00000366695:G305A;ENSP00000366685:G305A	ENSP00000262544:G305A	G	+	2	0	SEC23B	18455096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.719000	0.93026	0.555000	0.69702	GGA	SEC23B	-	pfam_Sec23/24_trunk_dom	ENSG00000101310		0.468	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	130	0.76	1	G			18507096	18507096	+1	no_errors	ENST00000262544	ensembl	human	known	69_37n	missense	133	24.00	42	SNP	1.000	C
SIRT7	51547	genome.wustl.edu	37	17	79872286	79872286	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:79872286C>A	ENST00000328666.6	-	7	762	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	234	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACAATGGTGTCCCGCAGCTGG	0.632																																						dbGAP											0													40.0	40.0	40.0					17																	79872286		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.700G>T	17.37:g.79872286C>A	ENSP00000329466:p.Asp234Tyr		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.D234Y	ENST00000328666.6	37	c.700	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351776	0.82132	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.18338	2.22	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74411	-0.3674	10	0.87932	D	0	-24.9287	17.1674	0.86820	0.0:1.0:0.0:0.0	.	234;234	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	Y	234;217	ENSP00000329466:D234Y	ENSP00000329466:D234Y	D	-	1	0	SIRT7	77465578	1.000000	0.71417	0.988000	0.46212	0.909000	0.53808	7.427000	0.80284	2.033000	0.60031	0.549000	0.68633	GAC	SIRT7	-	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	ENSG00000187531		0.632	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	14	0.00	0	C	NM_016538		79872286	79872286	-1	no_errors	ENST00000328666	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	1.000	A
SIRT7	51547	genome.wustl.edu	37	17	79872286	79872286	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr17:79872286C>A	ENST00000328666.6	-	7	762	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	234	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACAATGGTGTCCCGCAGCTGG	0.632																																						dbGAP											0													40.0	40.0	40.0					17																	79872286		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.700G>T	17.37:g.79872286C>A	ENSP00000329466:p.Asp234Tyr		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.D234Y	ENST00000328666.6	37	c.700	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351776	0.82132	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.18338	2.22	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74411	-0.3674	10	0.87932	D	0	-24.9287	17.1674	0.86820	0.0:1.0:0.0:0.0	.	234;234	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	Y	234;217	ENSP00000329466:D234Y	ENSP00000329466:D234Y	D	-	1	0	SIRT7	77465578	1.000000	0.71417	0.988000	0.46212	0.909000	0.53808	7.427000	0.80284	2.033000	0.60031	0.549000	0.68633	GAC	SIRT7	-	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	ENSG00000187531		0.632	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	29	0.00	0	C	NM_016538		79872286	79872286	-1	no_errors	ENST00000328666	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	1.000	A
SLC34A2	10568	genome.wustl.edu	37	4	25678181	25678181	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:25678181C>T	ENST00000382051.3	+	13	1933	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A627V|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A627V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	628	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				tgctgccgcgcgtgctgcttg	0.657			T	ROS1	NSCLC																																	dbGAP		Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													27.0	29.0	28.0					4																	25678181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1883C>T	4.37:g.25678181C>T	ENSP00000371483:p.Ala628Val		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.A628V	ENST00000382051.3	37	c.1883	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.575770	0.00887	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20200	2.09;2.09;2.09	4.55	0.206	0.15208	.	2.032160	0.02748	N	0.117085	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21690	-1.0238	10	0.13853	T	0.58	.	4.543	0.12067	0.0:0.3452:0.1675:0.4873	.	627;628	O95436-2;O95436	.;NPT2B_HUMAN	V	627;628;627	ENSP00000425501:A627V;ENSP00000371483:A628V;ENSP00000423021:A627V	ENSP00000371483:A628V	A	+	2	0	SLC34A2	25287279	.	.	0.072000	0.20136	0.428000	0.31595	.	.	-0.130000	0.11599	-0.458000	0.05436	GCG	SLC34A2	-	NULL	ENSG00000157765		0.657	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	8	0.00	0	C	NM_006424		25678181	25678181	+1	no_errors	ENST00000382051	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.030	T
SLC34A2	10568	genome.wustl.edu	37	4	25678181	25678181	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr4:25678181C>T	ENST00000382051.3	+	13	1933	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A627V|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A627V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	628	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				tgctgccgcgcgtgctgcttg	0.657			T	ROS1	NSCLC																																	dbGAP		Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													27.0	29.0	28.0					4																	25678181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1883C>T	4.37:g.25678181C>T	ENSP00000371483:p.Ala628Val		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.A628V	ENST00000382051.3	37	c.1883	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.575770	0.00887	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20200	2.09;2.09;2.09	4.55	0.206	0.15208	.	2.032160	0.02748	N	0.117085	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21690	-1.0238	10	0.13853	T	0.58	.	4.543	0.12067	0.0:0.3452:0.1675:0.4873	.	627;628	O95436-2;O95436	.;NPT2B_HUMAN	V	627;628;627	ENSP00000425501:A627V;ENSP00000371483:A628V;ENSP00000423021:A627V	ENSP00000371483:A628V	A	+	2	0	SLC34A2	25287279	.	.	0.072000	0.20136	0.428000	0.31595	.	.	-0.130000	0.11599	-0.458000	0.05436	GCG	SLC34A2	-	NULL	ENSG00000157765		0.657	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	29	0.00	0	C	NM_006424		25678181	25678181	+1	no_errors	ENST00000382051	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.030	T
SWI5	375757	genome.wustl.edu	37	9	131048299	131048299	+	Silent	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr9:131048299G>A	ENST00000320188.5	+	4	630	c.630G>A	c.(628-630)ctG>ctA	p.L210L	SWI5_ENST00000419867.2_Silent_p.L145L|SWI5_ENST00000608796.1_Silent_p.L145L|SWI5_ENST00000418976.1_Silent_p.L105L|SWI5_ENST00000495313.1_Silent_p.L114L	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	210					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GGCAGATGCTGATGGGCAAAC	0.547																																						dbGAP											0													95.0	95.0	95.0					9																	131048299		2106	4242	6348	-	-	-	SO:0001819	synonymous_variant	0			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.630G>A	9.37:g.131048299G>A			Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.D138N	ENST00000320188.5	37	c.412	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892542	0.17613	.	.	ENSG00000175854	ENST00000418976	.	.	.	5.27	3.08	0.35506	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56823	-0.7915	4	.	.	.	.	10.0564	0.42248	0.1922:0.0:0.8078:0.0	.	.	.	.	N	138	.	.	D	+	1	0	SWI5	130088120	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.845000	0.27668	1.217000	0.43442	0.491000	0.48974	GAT	SWI5	-	pfam_DNA-repair_Swi5	ENSG00000175854		0.547	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		140	0.00	0	G	NM_001040011		131048299	131048299	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418976	ensembl	human	novel	69_37n	missense	118	25.32	40	SNP	1.000	A
SWI5	375757	genome.wustl.edu	37	9	131048299	131048299	+	Silent	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr9:131048299G>A	ENST00000320188.5	+	4	630	c.630G>A	c.(628-630)ctG>ctA	p.L210L	SWI5_ENST00000419867.2_Silent_p.L145L|SWI5_ENST00000608796.1_Silent_p.L145L|SWI5_ENST00000418976.1_Silent_p.L105L|SWI5_ENST00000495313.1_Silent_p.L114L	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	210					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GGCAGATGCTGATGGGCAAAC	0.547																																						dbGAP											0													95.0	95.0	95.0					9																	131048299		2106	4242	6348	-	-	-	SO:0001819	synonymous_variant	0			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.630G>A	9.37:g.131048299G>A			Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.D138N	ENST00000320188.5	37	c.412	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892542	0.17613	.	.	ENSG00000175854	ENST00000418976	.	.	.	5.27	3.08	0.35506	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56823	-0.7915	4	.	.	.	.	10.0564	0.42248	0.1922:0.0:0.8078:0.0	.	.	.	.	N	138	.	.	D	+	1	0	SWI5	130088120	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.845000	0.27668	1.217000	0.43442	0.491000	0.48974	GAT	SWI5	-	pfam_DNA-repair_Swi5	ENSG00000175854		0.547	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		123	0.00	0	G	NM_001040011		131048299	131048299	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418976	ensembl	human	novel	69_37n	missense	118	25.32	40	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131378115	131378115	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr9:131378115A>G	ENST00000372731.4	+	40	5448	c.5338A>G	c.(5338-5340)Atc>Gtc	p.I1780V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.I1785V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.I1785V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1780					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGTCCTGGATCAAGTATGT	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													67.0	61.0	63.0					9																	131378115		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5338A>G	9.37:g.131378115A>G	ENSP00000361816:p.Ile1780Val		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.I1785V	ENST00000372731.4	37	c.5353	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839619	0.71488	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.60040	0.22;1.06;0.22	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	L	0.61036	1.89	0.80722	D	1	D;B;B	0.63046	0.992;0.361;0.415	D;P;P	0.78314	0.991;0.527;0.658	T	0.75224	-0.3393	10	0.56958	D	0.05	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	1760;1785;1780	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	V	1785;1780;1785;1760;29	ENSP00000350882:I1785V;ENSP00000361816:I1780V;ENSP00000361824:I1785V	ENSP00000350882:I1785V	I	+	1	0	SPTAN1	130417936	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.890000	0.92477	2.279000	0.76181	0.533000	0.62120	ATC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	51	0.00	0	A	NM_003127		131378115	131378115	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	1.000	G
TBCK	93627	genome.wustl.edu	37	4	107230071	107230071	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:107230071G>A	ENST00000273980.5	-	3	494	c.47C>T	c.(46-48)gCc>gTc	p.A16V	TBCK_ENST00000361687.4_Missense_Mutation_p.A16V|TBCK_ENST00000394706.3_Missense_Mutation_p.A16V|TBCK_ENST00000394708.2_Missense_Mutation_p.A16V|TBCK_ENST00000432496.2_Missense_Mutation_p.A16V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAGAGCCGAGGCAAAGAAGGT	0.433																																						dbGAP											0													104.0	103.0	103.0					4																	107230071		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.47C>T	4.37:g.107230071G>A	ENSP00000273980:p.Ala16Val			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom	p.A16V	ENST00000273980.5	37	c.47	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.310000	0.95629	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.25	5.25	0.73442	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.55743	1.74	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	P;D;D	0.73708	0.904;0.972;0.981	T	0.00577	-1.1662	10	0.46703	T	0.11	.	18.8259	0.92119	0.0:0.0:1.0:0.0	.	16;16;16	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	16	ENSP00000273980:A16V;ENSP00000405847:A16V;ENSP00000355338:A16V;ENSP00000378196:A16V;ENSP00000378198:A16V;ENSP00000420985:A16V;ENSP00000425197:A16V;ENSP00000423637:A16V	ENSP00000273980:A16V	A	-	2	0	TBCK	107449520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.468000	0.83385	0.591000	0.81541	GCC	TBCK	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000145348		0.433	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	329	0.30	1	G	NM_033115		107230071	107230071	-1	no_errors	ENST00000273980	ensembl	human	known	69_37n	missense	237	37.47	142	SNP	1.000	A
TBCK	93627	genome.wustl.edu	37	4	107230071	107230071	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr4:107230071G>A	ENST00000273980.5	-	3	494	c.47C>T	c.(46-48)gCc>gTc	p.A16V	TBCK_ENST00000361687.4_Missense_Mutation_p.A16V|TBCK_ENST00000394706.3_Missense_Mutation_p.A16V|TBCK_ENST00000394708.2_Missense_Mutation_p.A16V|TBCK_ENST00000432496.2_Missense_Mutation_p.A16V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAGAGCCGAGGCAAAGAAGGT	0.433																																						dbGAP											0													104.0	103.0	103.0					4																	107230071		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.47C>T	4.37:g.107230071G>A	ENSP00000273980:p.Ala16Val			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom	p.A16V	ENST00000273980.5	37	c.47	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.310000	0.95629	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.25	5.25	0.73442	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.55743	1.74	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	P;D;D	0.73708	0.904;0.972;0.981	T	0.00577	-1.1662	10	0.46703	T	0.11	.	18.8259	0.92119	0.0:0.0:1.0:0.0	.	16;16;16	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	16	ENSP00000273980:A16V;ENSP00000405847:A16V;ENSP00000355338:A16V;ENSP00000378196:A16V;ENSP00000378198:A16V;ENSP00000420985:A16V;ENSP00000425197:A16V;ENSP00000423637:A16V	ENSP00000273980:A16V	A	-	2	0	TBCK	107449520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.468000	0.83385	0.591000	0.81541	GCC	TBCK	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000145348		0.433	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	250	0.00	0	G	NM_033115		107230071	107230071	-1	no_errors	ENST00000273980	ensembl	human	known	69_37n	missense	237	37.47	142	SNP	1.000	A
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	10	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	33	19.05	8	SNP	0.994	A
TMEM132D	121256	genome.wustl.edu	37	12	129558688	129558689	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr12:129558688_129558689insT	ENST00000422113.2	-	9	3357_3358	c.3031_3032insA	c.(3031-3033)agcfs	p.S1011fs	TMEM132D_ENST00000389441.4_Frame_Shift_Ins_p.S549fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1011					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCATTGATGCTTTTTTGGGAG	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3032dupA	12.37:g.129558694_129558694dupT	ENSP00000408581:p.Ser1011fs		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Ins	INS	NULL	p.S1011fs	ENST00000422113.2	37	c.3032_3031	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.460	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	218	0.00	0	-	NM_133448		129558688	129558689	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	frame_shift_ins	94	43.71	73	INS	0.003:0.002	T
TNRC18	84629	genome.wustl.edu	37	7	5355696	5355696	+	Silent	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr7:5355696C>A	ENST00000430969.1	-	25	7101	c.6753G>T	c.(6751-6753)ctG>ctT	p.L2251L	TNRC18_ENST00000399537.4_Silent_p.L2251L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2251							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCCAGGTCCAGTAACCCTG	0.627																																						dbGAP											0													38.0	35.0	36.0					7																	5355696		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6753G>T	7.37:g.5355696C>A			A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	NULL	p.G65*	ENST00000430969.1	37	c.193	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	c	9.523	1.108898	0.20714	.	.	ENSG00000182095	ENST00000328270	.	.	.	4.46	0.237	0.15475	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6929	0.17839	0.396:0.4513:0.0:0.1526	.	.	.	.	X	65	.	.	G	-	1	0	TNRC18	5322222	0.751000	0.28327	0.996000	0.52242	0.922000	0.55478	-0.088000	0.11198	-0.015000	0.14150	0.511000	0.50034	GGA	TNRC18	-	NULL	ENSG00000182095		0.627	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		53	0.00	0	C			5355696	5355696	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000328270	ensembl	human	putative	69_37n	nonsense	43	39.44	28	SNP	0.994	A
TNRC18	84629	genome.wustl.edu	37	7	5355696	5355696	+	Silent	SNP	C	C	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr7:5355696C>A	ENST00000430969.1	-	25	7101	c.6753G>T	c.(6751-6753)ctG>ctT	p.L2251L	TNRC18_ENST00000399537.4_Silent_p.L2251L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2251							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCCAGGTCCAGTAACCCTG	0.627																																						dbGAP											0													38.0	35.0	36.0					7																	5355696		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6753G>T	7.37:g.5355696C>A			A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	NULL	p.G65*	ENST00000430969.1	37	c.193	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	c	9.523	1.108898	0.20714	.	.	ENSG00000182095	ENST00000328270	.	.	.	4.46	0.237	0.15475	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6929	0.17839	0.396:0.4513:0.0:0.1526	.	.	.	.	X	65	.	.	G	-	1	0	TNRC18	5322222	0.751000	0.28327	0.996000	0.52242	0.922000	0.55478	-0.088000	0.11198	-0.015000	0.14150	0.511000	0.50034	GGA	TNRC18	-	NULL	ENSG00000182095		0.627	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		58	0.00	0	C			5355696	5355696	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000328270	ensembl	human	putative	69_37n	nonsense	43	39.44	28	SNP	0.994	A
TP53	7157	genome.wustl.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	G	rs55863639		TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr17:7579312C>G	ENST00000269305.4	-	4	564	c.375G>C	c.(373-375)acG>acC	p.T125T	TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639						66.0	61.0	63.0					17																	7579312		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>C	17.37:g.7579312C>G			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.T125	ENST00000269305.4	37	c.375	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	20	0.00	0	C	NM_000546	Silent	7579312	7579312	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	1.000	G
TPO	7173	genome.wustl.edu	37	2	1426879	1426879	+	Missense_Mutation	SNP	G	G	A	rs199694732		TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:1426879G>A	ENST00000345913.4	+	3	248	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	TPO_ENST00000382201.3_Missense_Mutation_p.A53T|TPO_ENST00000349624.3_Missense_Mutation_p.A53T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A53T|TPO_ENST00000346956.3_Missense_Mutation_p.A53T|TPO_ENST00000539820.1_Missense_Mutation_p.A53T|TPO_ENST00000382269.3_Missense_Mutation_p.A53T|TPO_ENST00000329066.4_Missense_Mutation_p.A53T|TPO_ENST00000337415.3_Missense_Mutation_p.A53T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	53			A -> P (in TDH2A). {ECO:0000269|PubMed:12213873}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTGGACACCGCCATGTACGC	0.602																																						dbGAP											0			GRCh37	CM022257	TPO	M							92.0	77.0	82.0					2																	1426879		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.157G>A	2.37:g.1426879G>A	ENSP00000318820:p.Ala53Thr		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A53T	ENST00000345913.4	37	c.157	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973506	0.53720	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	3.72	2.82	0.32997	.	0.117057	0.37857	N	0.001914	T	0.65133	0.2662	M	0.81341	2.54	0.09310	N	1	D;P;D;D;D	0.61697	0.99;0.931;0.99;0.972;0.962	P;B;P;P;B	0.51895	0.665;0.356;0.683;0.552;0.427	T	0.59836	-0.7379	10	0.87932	D	0	-22.8934	8.6299	0.33913	0.0:0.0:0.7718:0.2282	.	53;53;53;53;53	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	T	53	ENSP00000371704:A53T;ENSP00000337263:A53T;ENSP00000318820:A53T;ENSP00000263886:A53T;ENSP00000332044:A53T;ENSP00000444840:A53T;ENSP00000329869:A53T;ENSP00000371636:A53T;ENSP00000390994:A53T;ENSP00000371633:A53T	ENSP00000329869:A53T	A	+	1	0	TPO	1405886	0.112000	0.22096	0.006000	0.13384	0.020000	0.10135	1.448000	0.35112	1.105000	0.41606	0.467000	0.42956	GCC	TPO	-	NULL	ENSG00000115705		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	36	0.00	0	G	NM_000547		1426879	1426879	+1	no_errors	ENST00000329066	ensembl	human	known	69_37n	missense	55	19.12	13	SNP	0.006	A
TRPS1	7227	genome.wustl.edu	37	8	116430602	116430602	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr8:116430602C>G	ENST00000220888.5	-	5	2899	c.2740G>C	c.(2740-2742)Gga>Cga	p.G914R	TRPS1_ENST00000395715.3_Missense_Mutation_p.G927R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G918R|TRPS1_ENST00000519076.1_Missense_Mutation_p.G668R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	914					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G927*(1)|p.G914*(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CATACATATCCGCCATTTGCA	0.478									Langer-Giedion syndrome																													dbGAP											2	Substitution - Nonsense(2)	lung(2)											139.0	140.0	139.0					8																	116430602		1961	4163	6124	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2740G>C	8.37:g.116430602C>G	ENSP00000220888:p.Gly914Arg		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.G927R	ENST00000220888.5	37	c.2779		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.070050|4.070050	0.76301|0.76301	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.99445|.	-5.91;-5.91;-5.91;-5.91|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34629|0.34629	0.0904|0.0904	N|N	0.01800|0.01800	-0.715|-0.715	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.97110|.	1.0;0.991;1.0|.	T|T	0.34775|0.34775	-0.9815|-0.9815	10|5	0.87932|.	D|.	0|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	918;914;927|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	R|P	927;914;668;918|38	ENSP00000379065:G927R;ENSP00000220888:G914R;ENSP00000428910:G668R;ENSP00000428680:G918R|.	ENSP00000220888:G914R|.	G|R	-|-	1|2	0|0	TRPS1|TRPS1	116499778|116499778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GGA|CGG	TRPS1	-	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	ENSG00000104447		0.478	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	164	0.00	0	C	NM_014112		116430602	116430602	-1	no_errors	ENST00000395715	ensembl	human	known	69_37n	missense	215	10.04	24	SNP	1.000	G
TRPS1	7227	genome.wustl.edu	37	8	116430602	116430602	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr8:116430602C>G	ENST00000220888.5	-	5	2899	c.2740G>C	c.(2740-2742)Gga>Cga	p.G914R	TRPS1_ENST00000395715.3_Missense_Mutation_p.G927R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G918R|TRPS1_ENST00000519076.1_Missense_Mutation_p.G668R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	914					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G927*(1)|p.G914*(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CATACATATCCGCCATTTGCA	0.478									Langer-Giedion syndrome																													dbGAP											2	Substitution - Nonsense(2)	lung(2)											139.0	140.0	139.0					8																	116430602		1961	4163	6124	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2740G>C	8.37:g.116430602C>G	ENSP00000220888:p.Gly914Arg		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.G927R	ENST00000220888.5	37	c.2779		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.070050|4.070050	0.76301|0.76301	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.99445|.	-5.91;-5.91;-5.91;-5.91|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34629|0.34629	0.0904|0.0904	N|N	0.01800|0.01800	-0.715|-0.715	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.97110|.	1.0;0.991;1.0|.	T|T	0.34775|0.34775	-0.9815|-0.9815	10|5	0.87932|.	D|.	0|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	918;914;927|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	R|P	927;914;668;918|38	ENSP00000379065:G927R;ENSP00000220888:G914R;ENSP00000428910:G668R;ENSP00000428680:G918R|.	ENSP00000220888:G914R|.	G|R	-|-	1|2	0|0	TRPS1|TRPS1	116499778|116499778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GGA|CGG	TRPS1	-	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	ENSG00000104447		0.478	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	134	0.00	0	C	NM_014112		116430602	116430602	-1	no_errors	ENST00000395715	ensembl	human	known	69_37n	missense	215	10.04	24	SNP	1.000	G
NCBP2L	392517	genome.wustl.edu	37	X	107018552	107018552	+	5'Flank	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chrX:107018552C>G	ENST00000509000.2	+	0	0				TSC22D3_ENST00000315660.4_Missense_Mutation_p.S33T|TSC22D3_ENST00000372383.4_Missense_Mutation_p.S33T|TSC22D3_ENST00000506081.1_Missense_Mutation_p.S33T|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000372384.2_Missense_Mutation_p.S33T			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CTCCCCGCTGCTGCCTCGCTG	0.602																																						dbGAP											0													48.0	41.0	43.0					X																	107018552		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018552C>G	Exception_encountered			Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.S33T	ENST00000509000.2	37	c.98		X	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296397	0.10622	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965;ENST00000502961	.	.	.	4.5	1.68	0.24146	.	0.826987	0.11177	N	0.591429	T	0.21631	0.0521	N	0.08118	0	0.24595	N	0.993801	B	0.11235	0.004	B	0.10450	0.005	T	0.28106	-1.0054	9	0.13470	T	0.59	.	10.5185	0.44905	0.0:0.7387:0.0:0.2613	.	33	Q99576-3	.	T	33	.	ENSP00000314655:S33T	S	-	2	0	TSC22D3	106905208	0.000000	0.05858	0.002000	0.10522	0.503000	0.33858	0.257000	0.18369	-0.109000	0.12044	-0.905000	0.02835	AGC	TSC22D3	-	NULL	ENSG00000157514		0.602	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057850.2	37	0.00	0	C	XM_373362		107018552	107018552	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	0.140	G
NCBP2L	392517	genome.wustl.edu	37	X	107018552	107018552	+	5'Flank	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chrX:107018552C>G	ENST00000509000.2	+	0	0				TSC22D3_ENST00000315660.4_Missense_Mutation_p.S33T|TSC22D3_ENST00000372383.4_Missense_Mutation_p.S33T|TSC22D3_ENST00000506081.1_Missense_Mutation_p.S33T|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000372384.2_Missense_Mutation_p.S33T			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CTCCCCGCTGCTGCCTCGCTG	0.602																																						dbGAP											0													48.0	41.0	43.0					X																	107018552		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018552C>G	Exception_encountered			Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.S33T	ENST00000509000.2	37	c.98		X	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296397	0.10622	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965;ENST00000502961	.	.	.	4.5	1.68	0.24146	.	0.826987	0.11177	N	0.591429	T	0.21631	0.0521	N	0.08118	0	0.24595	N	0.993801	B	0.11235	0.004	B	0.10450	0.005	T	0.28106	-1.0054	9	0.13470	T	0.59	.	10.5185	0.44905	0.0:0.7387:0.0:0.2613	.	33	Q99576-3	.	T	33	.	ENSP00000314655:S33T	S	-	2	0	TSC22D3	106905208	0.000000	0.05858	0.002000	0.10522	0.503000	0.33858	0.257000	0.18369	-0.109000	0.12044	-0.905000	0.02835	AGC	TSC22D3	-	NULL	ENSG00000157514		0.602	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057850.2	77	0.00	0	C	XM_373362		107018552	107018552	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	0.140	G
TTC29	83894	genome.wustl.edu	37	4	147741361	147741361	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:147741361T>A	ENST00000325106.4	-	10	1243	c.1017A>T	c.(1015-1017)aaA>aaT	p.K339N	TTC29_ENST00000513335.1_Missense_Mutation_p.K365N|TTC29_ENST00000398886.4_Missense_Mutation_p.K365N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	339								p.K339N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTTTCACAAATTTTTTCAAGT	0.343																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											90.0	86.0	87.0					4																	147741361		1812	4080	5892	-	-	-	SO:0001583	missense	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1017A>T	4.37:g.147741361T>A	ENSP00000316740:p.Lys339Asn		A4GU95|Q9BXB6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.K365N	ENST00000325106.4	37	c.1095	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822285	0.50739	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.91	2.21	0.28008	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096432	0.64402	D	0.000002	D	0.91570	0.7337	L	0.60455	1.87	0.34216	D	0.674806	P;P;P	0.43938	0.822;0.552;0.822	B;B;P	0.45913	0.349;0.255;0.497	D	0.87865	0.2667	10	0.17832	T	0.49	-29.6693	5.5596	0.17135	0.0:0.4174:0.1611:0.4215	.	339;365;339	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	365;365;339;339	ENSP00000423505:K365N;ENSP00000381861:K365N;ENSP00000316740:K339N;ENSP00000425778:K339N	ENSP00000316740:K339N	K	-	3	2	TTC29	147960811	0.158000	0.22850	0.316000	0.25252	0.933000	0.57130	0.154000	0.16343	0.158000	0.19367	0.528000	0.53228	AAA	TTC29	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000137473		0.343	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		435	0.00	0	T	NM_031956		147741361	147741361	-1	no_errors	ENST00000398886	ensembl	human	known	69_37n	missense	152	25.85	53	SNP	0.624	A
TTN	7273	genome.wustl.edu	37	2	179498292	179498292	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr2:179498292T>A	ENST00000591111.1	-	182	38095	c.37871A>T	c.(37870-37872)gAt>gTt	p.D12624V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5325V|TTN_ENST00000460472.2_Missense_Mutation_p.D5200V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D5392V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D14265V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D11697V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12624	Ig-like 84.				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)			CTCTTCACCATCTTTGAACCA	0.408																																						dbGAP											0													101.0	95.0	97.0					2																	179498292		1908	4127	6035	-	-	-	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.37871A>T	2.37:g.179498292T>A	ENSP00000465570:p.Asp12624Val		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.D11697V	ENST00000591111.1	37	c.35090		2	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111358	0.37242	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77718	0.4172	H	0.95437	3.67	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.68039	0.955;0.955;0.955;0.955	D	0.84845	0.0810	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	5200;5325;5392;12624	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	11697;5200;5392;5325;5200	ENSP00000343764:D11697V;ENSP00000434586:D5200V;ENSP00000340554:D5392V;ENSP00000352154:D5325V	ENSP00000340554:D5392V	D	-	2	0	TTN	179206537	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	6.186000	0.72026	2.291000	0.77112	0.533000	0.62120	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	248	0.00	0	T	NM_133378		179498292	179498292	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	140	27.69	54	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179498292	179498292	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr2:179498292T>A	ENST00000591111.1	-	182	38095	c.37871A>T	c.(37870-37872)gAt>gTt	p.D12624V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5325V|TTN_ENST00000460472.2_Missense_Mutation_p.D5200V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D5392V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D14265V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D11697V|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12624	Ig-like 84.				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)			CTCTTCACCATCTTTGAACCA	0.408																																						dbGAP											0													101.0	95.0	97.0					2																	179498292		1908	4127	6035	-	-	-	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.37871A>T	2.37:g.179498292T>A	ENSP00000465570:p.Asp12624Val		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.D11697V	ENST00000591111.1	37	c.35090		2	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111358	0.37242	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77718	0.4172	H	0.95437	3.67	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.68039	0.955;0.955;0.955;0.955	D	0.84845	0.0810	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	5200;5325;5392;12624	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	11697;5200;5392;5325;5200	ENSP00000343764:D11697V;ENSP00000434586:D5200V;ENSP00000340554:D5392V;ENSP00000352154:D5325V	ENSP00000340554:D5392V	D	-	2	0	TTN	179206537	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	6.186000	0.72026	2.291000	0.77112	0.533000	0.62120	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	150	0.66	1	T	NM_133378		179498292	179498292	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	140	27.69	54	SNP	1.000	A
WDFY3	23001	genome.wustl.edu	37	4	85748077	85748077	+	Silent	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr4:85748077C>G	ENST00000295888.4	-	10	1421	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L	WDFY3_ENST00000322366.6_Silent_p.L338L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	338					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGAAGTTATCAGATTAACCA	0.388																																						dbGAP											0													131.0	120.0	124.0					4																	85748077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1014G>C	4.37:g.85748077C>G			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L338	ENST00000295888.4	37	c.1014	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	370	0.00	0	C	NM_014991		85748077	85748077	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	silent	244	16.72	49	SNP	1.000	G
WDFY3	23001	genome.wustl.edu	37	4	85748077	85748077	+	Silent	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr4:85748077C>G	ENST00000295888.4	-	10	1421	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L	WDFY3_ENST00000322366.6_Silent_p.L338L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	338					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGAAGTTATCAGATTAACCA	0.388																																						dbGAP											0													131.0	120.0	124.0					4																	85748077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1014G>C	4.37:g.85748077C>G			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L338	ENST00000295888.4	37	c.1014	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	175	0.00	0	C	NM_014991		85748077	85748077	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	silent	244	16.72	49	SNP	1.000	G
WNK1	65125	genome.wustl.edu	37	12	862832	862832	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr12:862832C>G	ENST00000315939.6	+	1	744	c.101C>G	c.(100-102)tCc>tGc	p.S34C	WNK1_ENST00000535572.1_Missense_Mutation_p.S34C|WNK1_ENST00000447667.2_Missense_Mutation_p.S34C|WNK1_ENST00000537687.1_Missense_Mutation_p.S34C|WNK1_ENST00000530271.2_Missense_Mutation_p.S34C	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	34					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCGATTCCTCCGTGGGGGAG	0.687																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													14.0	18.0	17.0					12																	862832		2194	4288	6482	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.101C>G	12.37:g.862832C>G	ENSP00000313059:p.Ser34Cys		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S34C	ENST00000315939.6	37	c.101	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869952	0.51588	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.72725	-0.57;-0.57;-0.54;-0.68;-0.55	4.19	3.28	0.37604	.	0.135813	0.33772	N	0.004578	T	0.75280	0.3828	L	0.50333	1.59	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.979	P;P;P	0.57468	0.821;0.533;0.723	T	0.77189	-0.2679	10	0.62326	D	0.03	-6.4261	13.2519	0.60055	0.1603:0.8397:0.0:0.0	.	34;34;34	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	C	34	ENSP00000441972:S34C;ENSP00000313059:S34C;ENSP00000444465:S34C;ENSP00000392542:S34C;ENSP00000433548:S34C	ENSP00000313059:S34C	S	+	2	0	WNK1	733093	0.980000	0.34600	1.000000	0.80357	0.754000	0.42855	3.379000	0.52440	0.947000	0.37659	-0.538000	0.04264	TCC	WNK1	-	NULL	ENSG00000060237		0.687	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	14	0.00	0	C	NM_018979		862832	862832	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.981	G
ZNF384	171017	genome.wustl.edu	37	12	6788134	6788134	+	Silent	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr12:6788134C>T	ENST00000396801.3	-	4	489	c.282G>A	c.(280-282)ccG>ccA	p.P94P	ZNF384_ENST00000396795.1_Silent_p.P94P|ZNF384_ENST00000319770.3_Silent_p.P94P|ZNF384_ENST00000361959.3_Silent_p.P94P|ZNF384_ENST00000355772.4_Silent_p.P94P|ZNF384_ENST00000396799.2_Silent_p.P94P	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	94					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GTCCTGTAGACGGCACAGGGA	0.557			T	"""EWSR1, TAF15 """	ALL																																	dbGAP		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													149.0	145.0	147.0					12																	6788134		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.282G>A	12.37:g.6788134C>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P94	ENST00000396801.3	37	c.282	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.557	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	49	0.00	0	C			6788134	6788134	-1	no_errors	ENST00000361959	ensembl	human	known	69_37n	silent	29	63.75	51	SNP	0.886	T
ZNF384	171017	genome.wustl.edu	37	12	6788134	6788134	+	Silent	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr12:6788134C>T	ENST00000396801.3	-	4	489	c.282G>A	c.(280-282)ccG>ccA	p.P94P	ZNF384_ENST00000396795.1_Silent_p.P94P|ZNF384_ENST00000319770.3_Silent_p.P94P|ZNF384_ENST00000361959.3_Silent_p.P94P|ZNF384_ENST00000355772.4_Silent_p.P94P|ZNF384_ENST00000396799.2_Silent_p.P94P	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	94					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GTCCTGTAGACGGCACAGGGA	0.557			T	"""EWSR1, TAF15 """	ALL																																	dbGAP		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													149.0	145.0	147.0					12																	6788134		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.282G>A	12.37:g.6788134C>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P94	ENST00000396801.3	37	c.282	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.557	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	67	0.00	0	C			6788134	6788134	-1	no_errors	ENST00000361959	ensembl	human	known	69_37n	silent	29	63.75	51	SNP	0.886	T
ZNF585A	199704	genome.wustl.edu	37	19	37643174	37643174	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:37643174delT	ENST00000356958.4	-	5	1885	c.1627delA	c.(1627-1629)attfs	p.I543fs	ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.I488fs|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.I488fs|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTGTGAATTTTCTGATGT	0.398																																						dbGAP											0													95.0	93.0	94.0					19																	37643174		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1627delA	19.37:g.37643174delT	ENSP00000349440:p.Ile543fs		Q8TE95|Q96MV3	Frame_Shift_Del	DEL	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.I543fs	ENST00000356958.4	37	c.1627		19																																																																																			ZNF585A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196967		0.398	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	333	0.00	0	T	NM_152655		37643174	37643174	-1	no_errors	ENST00000356958	ensembl	human	known	69_37n	frame_shift_del	188	25.48	66	DEL	0.977	-
ZNF585A	199704	genome.wustl.edu	37	19	37643174	37643174	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr19:37643174delT	ENST00000356958.4	-	5	1885	c.1627delA	c.(1627-1629)attfs	p.I543fs	ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.I488fs|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.I488fs|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTGTGAATTTTCTGATGT	0.398																																						dbGAP											0													95.0	93.0	94.0					19																	37643174		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1627delA	19.37:g.37643174delT	ENSP00000349440:p.Ile543fs		Q8TE95|Q96MV3	Frame_Shift_Del	DEL	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.I543fs	ENST00000356958.4	37	c.1627		19																																																																																			ZNF585A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196967		0.398	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	203	0.00	0	T	NM_152655		37643174	37643174	-1	no_errors	ENST00000356958	ensembl	human	known	69_37n	frame_shift_del	188	25.48	66	DEL	0.977	-
ZNF730	100129543	genome.wustl.edu	37	19	23328798	23328798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:23328798delG	ENST00000597761.2	+	4	1151	c.952delG	c.(952-954)ggcfs	p.G318fs		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	318					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						CGAAAAATGTGGCAAAGCTTT	0.353																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.952delG	19.37:g.23328798delG	ENSP00000472959:p.Gly318fs			Frame_Shift_Del	DEL	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.G318fs	ENST00000597761.2	37	c.952	CCDS59371.1	19																																																																																			ZNF730	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183850		0.353	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	65	0.00	0	G	XM_001719792		23328798	23328798	+1	no_errors	ENST00000327867	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
ZNF780B	163131	genome.wustl.edu	37	19	40541342	40541342	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	4fe9e340-5314-4633-befe-c09aad28d7bf	g.chr19:40541342C>T	ENST00000434248.1	-	5	1489	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.C327Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCTTTACATTCAAAGGG	0.398																																						dbGAP											0													105.0	109.0	108.0					19																	40541342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1424G>A	19.37:g.40541342C>T	ENSP00000391641:p.Cys475Tyr		B9EH00	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.C475Y	ENST00000434248.1	37	c.1424	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772961	0.69992	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	D;D	0.85088	-1.94;-1.94	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92867	0.7731	M	0.92784	3.345	0.35066	D	0.762042	D	0.89917	1.0	D	0.97110	1.0	D	0.94345	0.7574	9	0.87932	D	0	.	9.6987	0.40173	0.0:1.0:0.0:0.0	.	475	Q9Y6R6	Z780B_HUMAN	Y	475;327	ENSP00000391641:C475Y;ENSP00000221355:C327Y	ENSP00000221355:C327Y	C	-	2	0	ZNF780B	45233182	1.000000	0.71417	0.990000	0.47175	0.523000	0.34469	5.986000	0.70563	1.046000	0.40249	0.313000	0.20887	TGT	ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.398	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	430	0.23	1	C	NM_001005851		40541342	40541342	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	missense	163	32.37	78	SNP	0.931	T
ZNF780B	163131	genome.wustl.edu	37	19	40541342	40541342	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BW-01A-11D-A10Y-09	TCGA-BH-A0BW-11A-12D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	07b5141f-ac79-439b-883b-b0183bbe7ff5	6c61b0f7-35a3-4eb2-9a94-0d3103354970	g.chr19:40541342C>T	ENST00000434248.1	-	5	1489	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.C327Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCTTTACATTCAAAGGG	0.398																																						dbGAP											0													105.0	109.0	108.0					19																	40541342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1424G>A	19.37:g.40541342C>T	ENSP00000391641:p.Cys475Tyr		B9EH00	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.C475Y	ENST00000434248.1	37	c.1424	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772961	0.69992	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	D;D	0.85088	-1.94;-1.94	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92867	0.7731	M	0.92784	3.345	0.35066	D	0.762042	D	0.89917	1.0	D	0.97110	1.0	D	0.94345	0.7574	9	0.87932	D	0	.	9.6987	0.40173	0.0:1.0:0.0:0.0	.	475	Q9Y6R6	Z780B_HUMAN	Y	475;327	ENSP00000391641:C475Y;ENSP00000221355:C327Y	ENSP00000221355:C327Y	C	-	2	0	ZNF780B	45233182	1.000000	0.71417	0.990000	0.47175	0.523000	0.34469	5.986000	0.70563	1.046000	0.40249	0.313000	0.20887	TGT	ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.398	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	196	0.00	0	C	NM_001005851		40541342	40541342	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	missense	163	32.37	78	SNP	0.931	T
