#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
ABCC4	10257	genome.wustl.edu	37	13	95696530	95696530	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr13:95696530C>T	ENST00000376887.4	-	28	3733	c.3619G>A	c.(3619-3621)Gtg>Atg	p.V1207M	ABCC4_ENST00000412704.1_Missense_Mutation_p.V1160M	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1207	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTTGGATCCACATTTGCCGTC	0.393																																						dbGAP											0													67.0	59.0	62.0					13																	95696530		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3619G>A	13.37:g.95696530C>T	ENSP00000366084:p.Val1207Met		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.V1207M	ENST00000376887.4	37	c.3619	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852660	0.91355	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.91407	-2.84;-2.84	5.83	5.83	0.93111	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	L	0.28054	0.825	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.986	D	0.93408	0.6766	10	0.87932	D	0	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1160;1207	O15439-2;O15439	.;MRP4_HUMAN	M	1160;1207	ENSP00000388657:V1160M;ENSP00000366084:V1207M	ENSP00000366084:V1207M	V	-	1	0	ABCC4	94494531	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	GTG	ABCC4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	169	0.00	0	C	NM_005845		95696530	95696530	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	138	47.92	127	SNP	1.000	T
ADAMTS16	170690	genome.wustl.edu	37	5	5237179	5237179	+	Silent	SNP	T	T	C			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr5:5237179T>C	ENST00000274181.7	+	14	2259	c.2121T>C	c.(2119-2121)gaT>gaC	p.D707D	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	707	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCTCGGAGGATAGCCGTAATG	0.393																																						dbGAP											0													146.0	136.0	139.0					5																	5237179		1903	4126	6029	-	-	-	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2121T>C	5.37:g.5237179T>C			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D707	ENST00000274181.7	37	c.2121	CCDS43299.1	5																																																																																			ADAMTS16	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000145536		0.393	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	471	0.00	0	T	NM_139056		5237179	5237179	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	silent	431	19.89	107	SNP	1.000	C
ASXL3	80816	genome.wustl.edu	37	18	31326084	31326084	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr18:31326084G>T	ENST00000269197.5	+	12	6272	c.6272G>T	c.(6271-6273)aGc>aTc	p.S2091I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2091					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGGTTTAAGCAGCAGCTGT	0.418																																						dbGAP											0													99.0	99.0	99.0					18																	31326084		1862	4104	5966	-	-	-	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6272G>T	18.37:g.31326084G>T	ENSP00000269197:p.Ser2091Ile		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S2091I	ENST00000269197.5	37	c.6272	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093226	0.56075	.	.	ENSG00000141431	ENST00000269197	T	0.15603	2.41	4.89	4.89	0.63831	.	.	.	.	.	T	0.11836	0.0288	N	0.14661	0.345	0.33836	D	0.630863	P	0.41313	0.745	B	0.39562	0.303	T	0.11717	-1.0576	9	0.59425	D	0.04	.	12.3678	0.55238	0.0787:0.0:0.9213:0.0	.	2091	Q9C0F0	ASXL3_HUMAN	I	2091	ENSP00000269197:S2091I	ENSP00000269197:S2091I	S	+	2	0	ASXL3	29580082	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.559000	0.53756	2.656000	0.90262	0.563000	0.77884	AGC	ASXL3	-	NULL	ENSG00000141431		0.418	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	156	0.00	0	G			31326084	31326084	+1	no_errors	ENST00000269197	ensembl	human	known	69_37n	missense	124	20.00	31	SNP	1.000	T
BRS3	680	genome.wustl.edu	37	X	135574243	135574243	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chrX:135574243C>A	ENST00000370648.3	+	3	1137	c.909C>A	c.(907-909)gaC>gaA	p.D303E		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	303					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCTATGTAGACCCCTCTGCCA	0.473																																						dbGAP											0													283.0	240.0	255.0					X																	135574243		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.909C>A	X.37:g.135574243C>A	ENSP00000359682:p.Asp303Glu			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.D303E	ENST00000370648.3	37	c.909	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	C	5.324	0.245070	0.10077	.	.	ENSG00000102239	ENST00000370648	T	0.65549	-0.16	5.51	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.364562	0.28796	N	0.014112	T	0.50854	0.1640	L	0.58583	1.82	0.09310	N	1	B	0.21071	0.051	B	0.30029	0.11	T	0.44174	-0.9345	10	0.17369	T	0.5	-0.4337	8.1752	0.31278	0.0:0.2861:0.1137:0.6002	.	303	P32247	BRS3_HUMAN	E	303	ENSP00000359682:D303E	ENSP00000359682:D303E	D	+	3	2	BRS3	135401909	0.231000	0.23751	0.000000	0.03702	0.009000	0.06853	-0.096000	0.11059	-0.512000	0.06505	-0.914000	0.02751	GAC	BRS3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt	ENSG00000102239		0.473	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	550	0.00	0	C	NM_001727		135574243	135574243	+1	no_errors	ENST00000370648	ensembl	human	known	69_37n	missense	509	16.94	104	SNP	0.008	A
CDHR5	53841	genome.wustl.edu	37	11	624855	624855	+	Silent	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr11:624855C>T	ENST00000358353.3	-	2	370	c.48G>A	c.(46-48)ctG>ctA	p.L16L	CDHR5_ENST00000397542.2_Silent_p.L16L|CDHR5_ENST00000349570.7_Silent_p.L16L|CDHR5_ENST00000529337.1_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	16					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCGGACGAGCAGCCCGGTGA	0.711																																						dbGAP											0													18.0	17.0	18.0					11																	624855		2197	4291	6488	-	-	-	SO:0001819	synonymous_variant	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.48G>A	11.37:g.624855C>T			C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.L16	ENST00000358353.3	37	c.48	CCDS7707.1	11																																																																																			CDHR5	-	NULL	ENSG00000099834		0.711	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	39	0.00	0	C	NM_021924		624855	624855	-1	no_errors	ENST00000358353	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	0.007	T
DDX51	317781	genome.wustl.edu	37	12	132626394	132626394	+	Splice_Site	SNP	C	C	G			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr12:132626394C>G	ENST00000397333.3	-	6	1034		c.e6+1		NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		ACACAACCTACGTTTTCTGGA	0.577																																						dbGAP											0													57.0	58.0	57.0					12																	132626394		1933	4136	6069	-	-	-	SO:0001630	splice_region_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.995+1G>C	12.37:g.132626394C>G			A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Splice_Site	SNP	-	e6+1	ENST00000397333.3	37	c.995+1	CCDS41865.1	12	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210523	0.39102	.	.	ENSG00000185163	ENST00000397333	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6902	0.77446	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX51	131192347	1.000000	0.71417	0.942000	0.38095	0.588000	0.36517	4.614000	0.61183	2.279000	0.76181	0.491000	0.48974	.	DDX51	-	-	ENSG00000185163		0.577	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	75	0.00	0	C	NM_175066	Intron	132626394	132626394	-1	no_errors	ENST00000397333	ensembl	human	known	69_37n	splice_site	62	35.42	34	SNP	0.999	G
DEFB118	117285	genome.wustl.edu	37	20	29960765	29960765	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr20:29960765G>T	ENST00000253381.2	+	2	197	c.164G>T	c.(163-165)tGc>tTc	p.C55F		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	55					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CGAGCTTGCTGCATTCCATCC	0.438																																						dbGAP											0													145.0	129.0	134.0					20																	29960765		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.164G>T	20.37:g.29960765G>T	ENSP00000253381:p.Cys55Phe		Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	NULL	p.C55F	ENST00000253381.2	37	c.164	CCDS13177.1	20	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026433	0.54683	.	.	ENSG00000131068	ENST00000253381	D	0.89270	-2.49	3.82	3.82	0.43975	.	0.000000	0.43747	D	0.000528	D	0.92440	0.7600	M	0.64170	1.965	0.43647	D	0.996059	D	0.89917	1.0	D	0.97110	1.0	D	0.92571	0.6066	10	0.87932	D	0	-9.6776	11.5201	0.50546	0.0:0.0:1.0:0.0	.	55	Q96PH6	DB118_HUMAN	F	55	ENSP00000253381:C55F	ENSP00000253381:C55F	C	+	2	0	DEFB118	29424426	0.994000	0.37717	0.936000	0.37596	0.019000	0.09904	3.589000	0.53972	2.408000	0.81797	0.655000	0.94253	TGC	DEFB118	-	NULL	ENSG00000131068		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB118	HGNC	protein_coding	OTTHUMT00000078501.2	199	1.00	2	G	NM_054112		29960765	29960765	+1	no_errors	ENST00000253381	ensembl	human	known	69_37n	missense	158	38.76	100	SNP	0.939	T
EPHA2	1969	genome.wustl.edu	37	1	16458583	16458583	+	Silent	SNP	G	G	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr1:16458583G>A	ENST00000358432.5	-	13	2455	c.2301C>T	c.(2299-2301)gaC>gaT	p.D767D		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	767	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TGGCCTCGGGGTCGTCCTCCA	0.622																																						dbGAP											0													112.0	101.0	105.0					1																	16458583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2301C>T	1.37:g.16458583G>A			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D767	ENST00000358432.5	37	c.2301	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000142627		0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	176	0.00	0	G	NM_004431		16458583	16458583	-1	no_errors	ENST00000358432	ensembl	human	known	69_37n	silent	83	50.60	85	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115872	8115872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr10:8115872delC	ENST00000346208.3	+	6	1673	c.1218delC	c.(1216-1218)atcfs	p.I406fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.I407fs			P23771	GATA3_HUMAN	GATA binding protein 3	406					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGAGCCACATCTCGCCCTTCA	0.592			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0			GRCh37	CI071440	GATA3	I							96.0	89.0	91.0					10																	8115872		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1218delC	10.37:g.8115872delC	ENSP00000341619:p.Ile406fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S408fs	ENST00000346208.3	37	c.1221	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.592	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	170	0.00	0	C	NM_001002295		8115872	8115872	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	119	31.11	56	DEL	0.767	-
GATA3	2625	genome.wustl.edu	37	10	8115874	8115874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr10:8115874delC	ENST00000346208.3	+	6	1675	c.1220delC	c.(1219-1221)tcgfs	p.S407fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.S408fs			P23771	GATA3_HUMAN	GATA binding protein 3	407					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	5	Insertion - Frameshift(5)	breast(5)											94.0	86.0	89.0					10																	8115874		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1220delC	10.37:g.8115874delC	ENSP00000341619:p.Ser407fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S408fs	ENST00000346208.3	37	c.1223	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.602	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	169	0.00	0	C	NM_001002295		8115874	8115874	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	121	30.56	55	DEL	0.903	-
IRF6	3664	genome.wustl.edu	37	1	209969822	209969822	+	Missense_Mutation	SNP	G	G	T	rs121434226		TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr1:209969822G>T	ENST00000367021.3	-	4	422	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	84			R -> C (in PPS; abrogates DNA binding). {ECO:0000269|PubMed:12219090}.|R -> G (in VWS1; abrogates DNA binding). {ECO:0000269|PubMed:15300989}.|R -> H (in PPS; abrogates DNA binding). {ECO:0000269|PubMed:12219090}.|R -> L (in PPS). {ECO:0000269|PubMed:20803643}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGAGCACAGCGCAGCTGGGCC	0.517										HNSCC(57;0.16)																												dbGAP											0			GRCh37	CM044898|HM040054	IRF6	M	rs121434226						110.0	90.0	97.0					1																	209969822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.250C>A	1.37:g.209969822G>T	ENSP00000355988:p.Arg84Ser		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.R84S	ENST00000367021.3	37	c.250	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066832	0.76301	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.98493	-4.96;-4.96	5.63	4.72	0.59763	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99597	1.0977	9	.	.	.	.	10.0898	0.42441	0.0704:0.0:0.7923:0.1372	.	84	O14896	IRF6_HUMAN	S	84	ENSP00000355988:R84S;ENSP00000403855:R84S	.	R	-	1	0	IRF6	208036445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.046000	0.64226	1.387000	0.46486	0.655000	0.94253	CGC	IRF6	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000117595		0.517	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	220	0.00	0	G	NM_006147		209969822	209969822	-1	no_errors	ENST00000367021	ensembl	human	known	69_37n	missense	319	11.63	42	SNP	1.000	T
GREM2	64388	genome.wustl.edu	37	1	240656415	240656415	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr1:240656415C>T	ENST00000318160.4	-	2	627	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	121	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTGCAGAAGGCGCAGGACTGG	0.627																																						dbGAP											0													60.0	63.0	62.0					1																	240656415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.361G>A	1.37:g.240656415C>T	ENSP00000318650:p.Ala121Thr		Q86UD9	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.A121T	ENST00000318160.4	37	c.361	CCDS31070.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558882	0.86231	.	.	ENSG00000180875	ENST00000318160	T	0.30981	1.51	4.97	4.97	0.65823	DAN (1);Cystine knot, C-terminal (2);	0.143254	0.46442	D	0.000297	T	0.48429	0.1499	M	0.67953	2.075	0.58432	D	0.999998	D	0.62365	0.991	D	0.63381	0.914	T	0.36553	-0.9743	10	0.27082	T	0.32	-32.9653	13.2294	0.59933	0.1591:0.8409:0.0:0.0	.	121	Q9H772	GREM2_HUMAN	T	121	ENSP00000318650:A121T	ENSP00000318650:A121T	A	-	1	0	GREM2	238723038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.789000	0.55454	2.290000	0.77057	0.557000	0.71058	GCC	GREM2	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	ENSG00000180875		0.627	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	60	0.00	0	C	NM_022469		240656415	240656415	-1	no_errors	ENST00000318160	ensembl	human	known	69_37n	missense	69	29.70	30	SNP	1.000	T
LRRC28	123355	genome.wustl.edu	37	15	99874160	99874160	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr15:99874160G>T	ENST00000301981.3	+	6	658	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000442993.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.D140Y|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	140										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCAGACACTAGACATTTCTAC	0.403																																						dbGAP											0													133.0	116.0	122.0					15																	99874160		2197	4297	6494	-	-	-	SO:0001583	missense	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.418G>T	15.37:g.99874160G>T	ENSP00000304923:p.Asp140Tyr		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D140Y	ENST00000301981.3	37	c.418	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089080	0.55968	.	.	ENSG00000168904	ENST00000301981;ENST00000447360	T;T	0.60424	0.19;0.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.91635	0.874;0.999	T	0.72874	-0.4160	10	0.40728	T	0.16	.	18.8651	0.92289	0.0:0.0:1.0:0.0	.	140;140	Q86X40-2;Q86X40	.;LRC28_HUMAN	Y	140	ENSP00000304923:D140Y;ENSP00000404520:D140Y	ENSP00000304923:D140Y	D	+	1	0	LRRC28	97691683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.121000	0.94375	2.712000	0.92718	0.650000	0.86243	GAC	LRRC28	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000168904		0.403	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	466	0.43	2	G	NM_144598		99874160	99874160	+1	no_errors	ENST00000301981	ensembl	human	known	69_37n	missense	446	32.42	214	SNP	1.000	T
NACAD	23148	genome.wustl.edu	37	7	45123685	45123685	+	Silent	SNP	C	C	T	rs199774238	byFrequency	TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr7:45123685C>T	ENST00000490531.2	-	2	2113	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	698					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CAGCCACAGGCTTTGGGGCTG	0.612																																						dbGAP											0													1.0	1.0	1.0					7																	45123685		46	261	307	-	-	-	SO:0001819	synonymous_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2094G>A	7.37:g.45123685C>T				Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.K698	ENST00000490531.2	37	c.2094	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.612	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	17	0.00	0	C	NM_001146334		45123685	45123685	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	silent	11	21.43	3	SNP	0.000	T
MCM7	4176	genome.wustl.edu	37	7	99696921	99696921	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr7:99696921C>T	ENST00000303887.5	-	4	1027	c.382G>A	c.(382-384)Gct>Act	p.A128T	MCM7_ENST00000343023.6_Missense_Mutation_p.A128T|AP4M1_ENST00000422582.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	128					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGAGTTCAGCAGGGTACTGG	0.512																																						dbGAP											0													133.0	145.0	141.0					7																	99696921		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.382G>A	7.37:g.99696921C>T	ENSP00000307288:p.Ala128Thr		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.A128T	ENST00000303887.5	37	c.382	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757044	0.49468	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308	T;T;T	0.11712	2.75;2.75;2.75	4.39	-1.38	0.09027	Nucleic acid-binding, OB-fold-like (1);	0.236242	0.43416	D	0.000566	T	0.08088	0.0202	L	0.43923	1.385	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14420	-1.0473	10	0.59425	D	0.04	-1.4485	6.5971	0.22681	0.2012:0.391:0.4077:0.0	.	128	P33993	MCM7_HUMAN	T	128;128;65;21;21	ENSP00000344006:A128T;ENSP00000307288:A128T;ENSP00000411295:A21T	ENSP00000307288:A128T	A	-	1	0	MCM7	99534857	1.000000	0.71417	0.982000	0.44146	0.943000	0.58893	2.441000	0.44864	-0.147000	0.11254	-0.302000	0.09304	GCT	MCM7	-	superfamily_NA-bd_OB-fold-like,prints_MCM_7	ENSG00000166508		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	207	0.00	0	C			99696921	99696921	-1	no_errors	ENST00000303887	ensembl	human	known	69_37n	missense	136	41.38	96	SNP	0.981	T
NLRP8	126205	genome.wustl.edu	37	19	56490781	56490781	+	Silent	SNP	C	C	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr19:56490781C>A	ENST00000291971.3	+	9	2969	c.2898C>A	c.(2896-2898)acC>acA	p.T966T	NLRP8_ENST00000590542.1_Silent_p.T947T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	966					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCTGTTCACCTCCATCTGCT	0.507																																						dbGAP											0													114.0	107.0	109.0					19																	56490781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2898C>A	19.37:g.56490781C>A			Q7RTR4	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T966	ENST00000291971.3	37	c.2898	CCDS12937.1	19																																																																																			NLRP8	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000179709		0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	125	0.00	0	C	NM_176811		56490781	56490781	+1	no_errors	ENST00000291971	ensembl	human	known	69_37n	silent	67	27.96	26	SNP	0.032	A
NOLC1	9221	genome.wustl.edu	37	10	103920683	103920683	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr10:103920683C>T	ENST00000605788.1	+	10	1809	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Missense_Mutation_p.S244F|NOLC1_ENST00000488254.2_Missense_Mutation_p.S526F|NOLC1_ENST00000405356.1_Missense_Mutation_p.S535F	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	525	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TCTGATGACTCCAGTGAGGAA	0.542																																						dbGAP											0													66.0	67.0	67.0					10																	103920683		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1574C>T	10.37:g.103920683C>T	ENSP00000474710:p.Ser525Phe		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.S535F	ENST00000605788.1	37	c.1604	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314166	0.40996	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.49720	0.77	5.82	5.82	0.92795	.	0.186551	0.38778	N	0.001572	T	0.67258	0.2874	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.67221	-0.5725	10	0.72032	D	0.01	0.3416	20.0897	0.97814	0.0:1.0:0.0:0.0	.	526;535;525	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	F	535;525	ENSP00000385410:S535F	ENSP00000359024:S525F	S	+	2	0	NOLC1	103910673	1.000000	0.71417	0.999000	0.59377	0.144000	0.21451	6.817000	0.75252	2.744000	0.94065	0.655000	0.94253	TCC	NOLC1	-	NULL	ENSG00000166197		0.542	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	68	0.00	0	C	NM_004741		103920683	103920683	+1	no_errors	ENST00000405356	ensembl	human	known	69_37n	missense	43	38.57	27	SNP	1.000	T
NT5C1B	93034	genome.wustl.edu	37	2	18766032	18766032	+	Silent	SNP	G	G	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr2:18766032G>A	ENST00000359846.2	-	5	728	c.651C>T	c.(649-651)gcC>gcT	p.A217A	NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.A217A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A217A|NT5C1B_ENST00000304081.4_Silent_p.A157A	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	217					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)				CGATGCCTTGGGCCCAGGCCT	0.692																																						dbGAP											0													24.0	26.0	26.0					2																	18766032		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	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.651C>T	2.37:g.18766032G>A			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	NULL	p.P135L	ENST00000359846.2	37	c.404	CCDS33150.1	2																																																																																			NT5C1B	-	NULL	ENSG00000185013		0.692	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	46	0.00	0	G			18766032	18766032	-1	no_errors	ENST00000406971	ensembl	human	known	69_37n	missense	20	50.00	20	SNP	0.000	A
NUP214	8021	genome.wustl.edu	37	9	134072801	134072801	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr9:134072801C>T	ENST00000359428.5	+	29	4064	c.3920C>T	c.(3919-3921)tCt>tTt	p.S1307F	NUP214_ENST00000451030.1_Missense_Mutation_p.S1308F|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.S1297F|NUP214_ENST00000483497.2_Missense_Mutation_p.S133F			P35658	NU214_HUMAN	nucleoporin 214kDa	1307	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCACCACCTCTAGTAAGCTG	0.552			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													156.0	144.0	148.0					9																	134072801		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3920C>T	9.37:g.134072801C>T	ENSP00000352400:p.Ser1307Phe		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.S1308F	ENST00000359428.5	37	c.3923	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561425	0.65538	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.57907	1.21;1.22;1.21;0.47;0.37	5.64	5.64	0.86602	.	0.519802	0.16264	N	0.222083	T	0.48370	0.1496	N	0.08118	0	0.09310	N	0.999993	D;D;P;P;P	0.59767	0.958;0.986;0.925;0.925;0.925	P;P;P;P;P	0.54312	0.66;0.748;0.568;0.568;0.568	T	0.49661	-0.8916	10	0.35671	T	0.21	-6.4152	18.2935	0.90138	0.0:1.0:0.0:0.0	.	133;736;901;1297;1307	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	F	1307;1297;1308;1286;901;736;133;84;84	ENSP00000352400:S1307F;ENSP00000396576:S1297F;ENSP00000405014:S1308F;ENSP00000436793:S133F;ENSP00000435364:S84F	ENSP00000352400:S1307F	S	+	2	0	NUP214	133062622	0.011000	0.17503	0.057000	0.19452	0.713000	0.41058	1.845000	0.39279	2.664000	0.90586	0.655000	0.94253	TCT	NUP214	-	NULL	ENSG00000126883		0.552	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	332	0.00	0	C	NM_005085		134072801	134072801	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	272	20.23	69	SNP	0.077	T
PDE4D	5144	genome.wustl.edu	37	5	58285743	58285743	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr5:58285743G>A	ENST00000340635.6	-	10	1466	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	PDE4D_ENST00000405755.2_Missense_Mutation_p.R309W|PDE4D_ENST00000507116.1_Missense_Mutation_p.R367W|PDE4D_ENST00000358923.6_Missense_Mutation_p.R129W|PDE4D_ENST00000502484.2_Missense_Mutation_p.R370W|PDE4D_ENST00000317118.8_Missense_Mutation_p.R140W|PDE4D_ENST00000360047.5_Missense_Mutation_p.R295W|PDE4D_ENST00000503258.1_Missense_Mutation_p.R301W|PDE4D_ENST00000546160.1_Missense_Mutation_p.R370W	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	431					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AATAAATCCCGTTCCTGTAGG	0.303																																						dbGAP											0													70.0	73.0	72.0					5																	58285743		1795	4067	5862	-	-	-	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1291C>T	5.37:g.58285743G>A	ENSP00000345502:p.Arg431Trp		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.R431W	ENST00000340635.6	37	c.1291	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109999	0.77210	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.32	5.32	0.75619	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	H	0.94423	3.535	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.997;0.996;0.997;0.998;0.999;0.997;0.989;0.986	D	0.90471	0.4453	10	0.87932	D	0	.	19.1997	0.93707	0.0:0.0:1.0:0.0	.	370;431;367;294;309;301;206;140	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	W	431;300;295;367;129;140;301;309;370;370;129	ENSP00000345502:R431W;ENSP00000353152:R295W;ENSP00000424852:R367W;ENSP00000351800:R129W;ENSP00000321739:R140W;ENSP00000425605:R301W;ENSP00000384806:R309W;ENSP00000423094:R370W;ENSP00000442734:R370W;ENSP00000421013:R129W	ENSP00000321739:R140W	R	-	1	2	PDE4D	58321500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.619000	0.67729	2.753000	0.94483	0.655000	0.94253	CGG	PDE4D	-	NULL	ENSG00000113448		0.303	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	155	0.00	0	G			58285743	58285743	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	missense	98	35.48	55	SNP	1.000	A
PELI3	246330	genome.wustl.edu	37	11	66236347	66236347	+	Nonsense_Mutation	SNP	G	G	T	rs534540623		TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr11:66236347G>T	ENST00000320740.7	+	3	356	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PELI3_ENST00000349459.6_Intron|MRPL11_ENST00000524576.1_5'Flank|PELI3_ENST00000524466.1_Nonsense_Mutation_p.E66*|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	66					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						tcagagaggggaagtgactgg	0.522																																						dbGAP											0													45.0	39.0	41.0					11																	66236347		2200	4295	6495	-	-	-	SO:0001587	stop_gained	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.196G>T	11.37:g.66236347G>T	ENSP00000322532:p.Glu66*		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Nonsense_Mutation	SNP	pfam_Pellino	p.E66*	ENST00000320740.7	37	c.196	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912755	0.92178	.	.	ENSG00000174516	ENST00000320740;ENST00000524466;ENST00000527230	.	.	.	4.16	3.22	0.36961	.	1.208000	0.06027	N	0.652339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.1101	10.4287	0.44393	0.0:0.1998:0.8002:0.0	.	.	.	.	X	66	.	ENSP00000322532:E66X	E	+	1	0	PELI3	65992923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.619000	0.46401	1.031000	0.39867	0.591000	0.81541	GAA	PELI3	-	NULL	ENSG00000174516		0.522	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	143	0.00	0	G	NM_145065		66236347	66236347	+1	no_errors	ENST00000320740	ensembl	human	known	69_37n	nonsense	65	49.62	65	SNP	1.000	T
PLEKHM1	9842	genome.wustl.edu	37	17	43545835	43545835	+	Silent	SNP	G	G	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr17:43545835G>A	ENST00000430334.3	-	5	1181	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	RN7SL730P_ENST00000583727.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L261L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	350					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCACAGTGCAGGTATGTGCTG	0.627																																						dbGAP											0													110.0	101.0	104.0					17																	43545835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1048C>T	17.37:g.43545835G>A			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L350	ENST00000430334.3	37	c.1048	CCDS32671.1	17																																																																																			PLEKHM1	-	NULL	ENSG00000225190		0.627	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	419	0.00	0	G	NM_014798		43545835	43545835	-1	no_errors	ENST00000430334	ensembl	human	known	69_37n	silent	87	74.11	249	SNP	0.345	A
SEMA4G	57715	genome.wustl.edu	37	10	102743085	102743085	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr10:102743085C>T	ENST00000370250.4	+	14	2087	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R577C	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	572	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACTGAAGACCCGCTCTGTGCT	0.622																																						dbGAP											0													32.0	33.0	33.0					10																	102743085		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1714C>T	10.37:g.102743085C>T	ENSP00000359270:p.Arg572Cys		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R577C	ENST00000370250.4	37	c.1729		10	.	.	.	.	.	.	.	.	.	.	c	29.3	4.993728	0.93167	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.09723	2.95;2.95	5.61	5.61	0.85477	.	0.160620	0.56097	D	0.000027	T	0.29882	0.0747	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.00311	-1.1827	10	0.66056	D	0.02	.	16.8086	0.85712	0.0:1.0:0.0:0.0	.	577	Q9NTN9-2	.	C	572;577	ENSP00000359270:R572C;ENSP00000210633:R577C	ENSP00000210633:R577C	R	+	1	0	SEMA4G	102733075	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.153000	0.64888	2.655000	0.90218	0.550000	0.68814	CGC	SEMA4G	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000095539		0.622	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	99	0.00	0	C			102743085	102743085	+1	no_errors	ENST00000210633	ensembl	human	known	69_37n	missense	73	42.97	55	SNP	1.000	T
SPAG17	200162	genome.wustl.edu	37	1	118693979	118693979	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr1:118693979G>A	ENST00000336338.5	-	2	166	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	34						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCAATGGAGGCCTGCCAATC	0.408																																						dbGAP											0													75.0	64.0	68.0					1																	118693979		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.101C>T	1.37:g.118693979G>A	ENSP00000337804:p.Ala34Val		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.A34V	ENST00000336338.5	37	c.101	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394067	0.42410	.	.	ENSG00000155761	ENST00000336338	T	0.74106	-0.81	5.93	1.71	0.24356	.	0.415897	0.27482	N	0.019170	T	0.48095	0.1481	L	0.34521	1.04	0.21527	N	0.999657	P	0.38504	0.634	B	0.35971	0.215	T	0.47169	-0.9138	10	0.37606	T	0.19	.	18.315	0.90217	0.0:0.6525:0.3475:0.0	.	34	Q6Q759	SPG17_HUMAN	V	34	ENSP00000337804:A34V	ENSP00000337804:A34V	A	-	2	0	SPAG17	118495502	0.993000	0.37304	0.927000	0.36925	0.966000	0.64601	0.705000	0.25675	0.380000	0.24823	0.655000	0.94253	GCC	SPAG17	-	NULL	ENSG00000155761		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	122	0.00	0	G	NM_206996		118693979	118693979	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	missense	57	27.08	26	SNP	0.580	A
SPAG5	10615	genome.wustl.edu	37	17	26920013	26920013	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr17:26920013G>T	ENST00000321765.5	-	3	581	c.249C>A	c.(247-249)ttC>ttA	p.F83L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	83					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGGAATGACTGAAATGTTCTG	0.413																																						dbGAP											0													115.0	117.0	116.0					17																	26920013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.249C>A	17.37:g.26920013G>T	ENSP00000323300:p.Phe83Leu		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.F83L	ENST00000321765.5	37	c.249	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510109	0.12883	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.58	4.56	0.56223	.	0.491701	0.19223	N	0.119627	T	0.46756	0.1409	M	0.67953	2.075	0.09310	N	0.999999	B	0.29646	0.253	B	0.28305	0.088	T	0.50118	-0.8865	9	0.87932	D	0	-1.6286	12.328	0.55022	0.0:0.0:0.8316:0.1684	.	83	Q96R06	SPAG5_HUMAN	L	83	.	ENSP00000323300:F83L	F	-	3	2	SPAG5	23944140	0.068000	0.21057	0.803000	0.32268	0.143000	0.21401	1.859000	0.39418	2.774000	0.95407	0.655000	0.94253	TTC	SPAG5	-	NULL	ENSG00000076382		0.413	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	262	0.00	0	G	NM_006461		26920013	26920013	-1	no_errors	ENST00000321765	ensembl	human	known	69_37n	missense	217	15.89	41	SNP	0.188	T
SPTB	6710	genome.wustl.edu	37	14	65237718	65237718	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr14:65237718G>A	ENST00000389721.5	-	26	5715	c.5683C>T	c.(5683-5685)Cgc>Tgc	p.R1895C	SPTB_ENST00000389720.3_Missense_Mutation_p.R1895C|SPTB_ENST00000556626.1_Missense_Mutation_p.R1895C|SPTB_ENST00000542895.1_Missense_Mutation_p.R1895C|SPTB_ENST00000389722.3_Missense_Mutation_p.R1895C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1895					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R1895C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGTCCGGCGCCCGGCACAG	0.622																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											58.0	59.0	58.0					14																	65237718		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5683C>T	14.37:g.65237718G>A	ENSP00000374371:p.Arg1895Cys		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1895C	ENST00000389721.5	37	c.5683	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045285	0.75846	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.69463	2.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	T	0.76683	-0.2869	10	0.59425	D	0.04	.	17.7319	0.88380	0.0:0.0:1.0:0.0	.	679;1895;1899	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	C	1899;1895;679;560;1895;1895;1895;1895	ENSP00000374372:R1895C;ENSP00000451324:R560C;ENSP00000451752:R1895C;ENSP00000374371:R1895C;ENSP00000443882:R1895C;ENSP00000374370:R1895C	ENSP00000334218:R679C	R	-	1	0	SPTB	64307471	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.626000	0.74253	2.541000	0.85698	0.462000	0.41574	CGC	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.622	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	45	0.00	0	G			65237718	65237718	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	missense	28	40.82	20	SNP	1.000	A
TRPM3	80036	genome.wustl.edu	37	9	73151247	73151247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr9:73151247G>T	ENST00000377110.3	-	25	4989	c.4746C>A	c.(4744-4746)tgC>tgA	p.C1582*	TRPM3_ENST00000357533.2_Nonsense_Mutation_p.C1586*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.C1441*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.C1609*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.C1441*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.C1454*|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.C1444*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.C1431*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.C1441*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.C1444*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.C1454*			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1607					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTCTGGATGGCAGCAAGTTA	0.542																																						dbGAP											0													125.0	116.0	119.0					9																	73151247		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4746C>A	9.37:g.73151247G>T	ENSP00000366314:p.Cys1582*		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.C1609*	ENST00000377110.3	37	c.4827	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.862685|9.862685	0.99283|0.99283	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	.|.	.|.	.|.	5.87|5.87	0.869|0.869	0.19096|0.19096	.|.	0.165486|.	0.56097|.	D|.	0.000036|.	.|T	.|0.57814	.|0.2079	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51164	.|-0.8740	.|4	0.21540|.	T|.	0.41|.	-19.2429|-19.2429	9.6162|9.6162	0.39692|0.39692	0.3977:0.0:0.6023:0.0|0.3977:0.0:0.6023:0.0	.|.	.|.	.|.	.|.	X|T	1582;1454;1444;1441;1586;1441;1441;1454;1444;1609|1431	.|.	ENSP00000350140:C1586X|.	C|P	-|-	3|1	2|0	TRPM3|TRPM3	72341067|72341067	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	0.433000|0.433000	0.21477|0.21477	0.115000|0.115000	0.18071|0.18071	0.655000|0.655000	0.94253|0.94253	TGC|CCA	TRPM3	-	NULL	ENSG00000083067		0.542	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	180	0.00	0	G	NM_206945		73151247	73151247	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	nonsense	127	19.11	30	SNP	0.998	T
ZNF729	100287226	genome.wustl.edu	37	19	22497906	22497906	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr19:22497906A>G	ENST00000601693.1	+	4	1805	c.1687A>G	c.(1687-1689)Aag>Gag	p.K563E	ZNF729_ENST00000357491.6_Missense_Mutation_p.K563E			A6NN14	ZN729_HUMAN	zinc finger protein 729	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						TACTGTACATAAGGTAATTCA	0.363																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1687A>G	19.37:g.22497906A>G	ENSP00000469582:p.Lys563Glu		M0QY45	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.K563E	ENST00000601693.1	37	c.1687	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	10.06	1.248186	0.22880	.	.	ENSG00000196350	ENST00000357491	T	0.50813	0.73	1.26	-2.52	0.06346	.	.	.	.	.	T	0.40119	0.1104	L	0.39245	1.2	.	.	.	.	.	.	.	.	.	T	0.50693	-0.8798	6	0.54805	T	0.06	.	6.8113	0.23807	0.6743:0.3257:0.0:0.0	.	.	.	.	E	563	ENSP00000350085:K563E	ENSP00000350085:K563E	K	+	1	0	ZNF729	22289746	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-1.197000	0.03038	-0.471000	0.06891	-0.655000	0.03904	AAG	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.363	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	58	0.00	0	A	XM_496301		22497906	22497906	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	missense	9	60.87	14	SNP	0.942	G
VSTM1	284415	genome.wustl.edu	37	19	54545202	54545202	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HL-01A-11D-A135-09	TCGA-C8-A1HL-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	88c9ef88-5d85-4a4b-9c68-d9ec709a1f07	b4876746-52a8-4fc2-8454-93a4f8f0e8b6	g.chr19:54545202C>G	ENST00000338372.2	-	7	696	c.521G>C	c.(520-522)aGc>aCc	p.S174T	VSTM1_ENST00000366170.2_Missense_Mutation_p.S86T|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.S143T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	174					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTTGGAATGGCTGGTTCTGAA	0.527																																						dbGAP											0													55.0	56.0	56.0					19																	54545202		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.521G>C	19.37:g.54545202C>G	ENSP00000343366:p.Ser174Thr		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S174T	ENST00000338372.2	37	c.521	CCDS12872.1	19	.	.	.	.	.	.	.	.	.	.	C	6.835	0.523186	0.13066	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.44482	2.7;6.8;6.6;0.92	3.06	2.02	0.26589	.	0.664334	0.12446	U	0.468164	T	0.19208	0.0461	N	0.19112	0.55	0.09310	N	0.999995	P;P	0.47762	0.9;0.9	B;B	0.39068	0.289;0.289	T	0.08472	-1.0720	10	0.05525	T	0.97	.	5.2861	0.15702	0.0:0.8382:0.0:0.1618	.	143;174	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	64;174;143;86	ENSP00000409412:S64T;ENSP00000343366:S174T;ENSP00000365813:S143T;ENSP00000444153:S86T	ENSP00000343366:S174T	S	-	2	0	VSTM1	59237014	0.117000	0.22190	0.045000	0.18777	0.124000	0.20399	0.399000	0.20916	0.854000	0.35336	0.638000	0.83543	AGC	VSTM1	-	NULL	ENSG00000189068		0.527	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3	159	0.00	0	C	NM_198481		54545202	54545202	-1	no_errors	ENST00000338372	ensembl	human	known	69_37n	missense	76	31.53	35	SNP	0.057	G
