#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
ADAMTS6	11174	genome.wustl.edu	37	5	64747993	64747994	+	Missense_Mutation	DNP	TA	TA	CT	rs533107085		TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr5:64747993_64747994TA>CT	ENST00000536360.1	-	6	1706_1707	c.893_894TA>AG	c.(892-894)aTA>aAG	p.I298K				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	298	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCGGGCCACTATAATATTCAC	0.356																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.893_894delinsCT	5.37:g.64747993_64747994delinsCT	ENSP00000440995:p.Ile298Lys		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	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,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.I298M|p.I298K	ENST00000536360.1	37	c.894|c.893		5																																																																																			ADAMTS6	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000049192		0.356	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		85|86	0.00	0	T|A	NM_197941		64747993|64747994	64747993|64747994	-1	no_errors	ENST00000381055	ensembl	human	known	69_37n	missense	77|78	20.62|20.41	20	SNP	1.000	C|T
AP1G2	8906	genome.wustl.edu	37	14	24035346	24035346	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr14:24035346C>T	ENST00000308724.5	-	4	1250	c.495G>A	c.(493-495)atG>atA	p.M165I	AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.M165I|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	165					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.M165I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCTTCCGGATCATGTGCACTG	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											47.0	48.0	48.0					14																	24035346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.495G>A	14.37:g.24035346C>T	ENSP00000312442:p.Met165Ile		D3DS51|O75504	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.M165I	ENST00000308724.5	37	c.495	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912167	0.33721	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.21361	2.01;2.01;2.01	5.2	4.31	0.51392	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.083439	0.85682	N	0.000000	T	0.03305	0.0096	N	0.00131	-2.04	0.80722	D	1	B;B	0.15930	0.003;0.015	B;B	0.12156	0.002;0.007	T	0.31364	-0.9946	10	0.02654	T	1	-21.0991	7.4032	0.26975	0.0:0.7436:0.1677:0.0887	.	165;165	G3V532;O75843	.;AP1G2_HUMAN	I	165	ENSP00000312442:M165I;ENSP00000380309:M165I;ENSP00000452153:M165I	ENSP00000312442:M165I	M	-	3	0	AP1G2	23105186	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	1.090000	0.30902	1.419000	0.47118	-0.291000	0.09656	ATG	AP1G2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000213983		0.577	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	106	0.00	0	C	NM_003917		24035346	24035346	-1	no_errors	ENST00000308724	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	1.000	T
ATP12A	479	genome.wustl.edu	37	13	25281421	25281421	+	Silent	SNP	C	C	T			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr13:25281421C>T	ENST00000381946.3	+	17	2510	c.2343C>T	c.(2341-2343)cgC>cgT	p.R781R	ATP12A_ENST00000218548.6_Silent_p.R787R			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	781					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R781R(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCTAGGTCGCCTGATCTTTG	0.532																																					Pancreas(156;1582 1935 18898 22665 26498)	dbGAP											1	Substitution - coding silent(1)	breast(1)											152.0	150.0	151.0					13																	25281421		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2343C>T	13.37:g.25281421C>T			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R787	ENST00000381946.3	37	c.2361	CCDS31948.1	13																																																																																			ATP12A	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000075673		0.532	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	153	0.00	0	C	NM_001676		25281421	25281421	+1	no_errors	ENST00000218548	ensembl	human	known	69_37n	silent	51	23.88	16	SNP	1.000	T
ATP5SL	55101	genome.wustl.edu	37	19	41939224	41939224	+	Silent	SNP	A	A	G			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr19:41939224A>G	ENST00000221943.9	-	5	554	c.549T>C	c.(547-549)ggT>ggC	p.G183G	ATP5SL_ENST00000592922.2_Silent_p.G156G|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000417807.3_Silent_p.G189G|ATP5SL_ENST00000590641.2_Silent_p.G162G|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Silent_p.G156G|ATP5SL_ENST00000597457.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	183						mitochondrion (GO:0005739)		p.G183G(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TGCGGGGGCAACCGGCCAGCG	0.672																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											28.0	31.0	30.0					19																	41939224		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.549T>C	19.37:g.41939224A>G			B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Silent	SNP	NULL	p.G189	ENST00000221943.9	37	c.567	CCDS33032.1	19																																																																																			ATP5SL	-	NULL	ENSG00000105341		0.672	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	34	0.00	0	A	NM_018035		41939224	41939224	-1	no_errors	ENST00000417807	ensembl	human	known	69_37n	silent	30	33.33	15	SNP	0.237	G
BCO1	53630	genome.wustl.edu	37	16	81279117	81279117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr16:81279117C>T	ENST00000425577.2	+	2	322	c.25C>T	c.(25-27)Caa>Taa	p.Q9*	BCMO1_ENST00000564552.1_Silent_p.R34R|BCMO1_ENST00000258168.2_Silent_p.R34R														p.R34R(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCCTGCTCCGCAATGGGCCTG	0.522																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											149.0	144.0	146.0					16																	81279117		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0																														ENST00000425577.2:c.25C>T	16.37:g.81279117C>T	ENSP00000400586:p.Gln9*			Nonsense_Mutation	SNP	pfam_Carotenoid_Oase	p.Q9*	ENST00000425577.2	37	c.25		16	.	.	.	.	.	.	.	.	.	.	C	33	5.266662	0.95399	.	.	ENSG00000135697	ENST00000425577	.	.	.	4.89	-4.42	0.03579	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.353	2.0287	0.03524	0.3293:0.3393:0.1884:0.143	.	.	.	.	X	9	.	ENSP00000400586:Q9X	Q	+	1	0	BCMO1	79836618	0.383000	0.25156	0.080000	0.20451	0.650000	0.38633	-0.401000	0.07232	-0.341000	0.08376	0.655000	0.94253	CAA	BCMO1	-	NULL	ENSG00000135697		0.522	BCMO1-201	KNOWN	basic	protein_coding	BCMO1	HGNC	protein_coding		104	0.00	0	C			81279117	81279117	+1	no_errors	ENST00000425577	ensembl	human	known	69_37n	nonsense	45	38.36	28	SNP	0.852	T
BIN1	274	genome.wustl.edu	37	2	127806177	127806177	+	Silent	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr2:127806177G>A	ENST00000316724.5	-	19	2118	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	BIN1_ENST00000346226.3_Silent_p.S494S|BIN1_ENST00000351659.3_Silent_p.S482S|BIN1_ENST00000466111.1_5'Flank|BIN1_ENST00000376113.2_Silent_p.S400S|BIN1_ENST00000357970.3_Silent_p.S526S|BIN1_ENST00000393041.3_Silent_p.S451S|BIN1_ENST00000393040.3_Silent_p.S458S|BIN1_ENST00000348750.4_Silent_p.S385S|BIN1_ENST00000259238.4_Silent_p.S473S|BIN1_ENST00000352848.3_Silent_p.S430S|BIN1_ENST00000409400.1_Silent_p.S415S	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	569	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.S569S(1)|p.S473S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGTTCCAGTCGCTCTCCTTCA	0.657																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											91.0	83.0	86.0					2																	127806177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1707C>T	2.37:g.127806177G>A			O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.S569	ENST00000316724.5	37	c.1707	CCDS2138.1	2																																																																																			BIN1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000136717		0.657	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	26	0.00	0	G	NM_139343		127806177	127806177	-1	no_errors	ENST00000316724	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.075	A
C9orf43	257169	genome.wustl.edu	37	9	116187645	116187646	+	In_Frame_Ins	INS	-	-	GCA	rs374165893|rs527300639|rs371732185		TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr9:116187645_116187646insGCA	ENST00000288462.4	+	10	1333_1334	c.887_888insGCA	c.(886-891)cggcag>cgGCAgcag	p.304_305insQ	C9orf43_ENST00000374165.1_In_Frame_Ins_p.304_305insQ	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						cagcagcagcggcagcagcagc	0.55																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.906_908dupGCA	9.37:g.116187652_116187654dupGCA	ENSP00000288462:p.Gln304_Gln304dup			In_Frame_Ins	INS	NULL	p.300in_frame_insQ	ENST00000288462.4	37	c.887_888	CCDS6796.1	9																																																																																			C9orf43	-	NULL	ENSG00000157653		0.550	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	136	0.73	1	-	NM_152786		116187645	116187646	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	in_frame_ins	117	12.03	16	INS	0.000:0.211	GCA
CCDC136	64753	genome.wustl.edu	37	7	128434806	128434806	+	Silent	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr7:128434806G>A	ENST00000297788.4	+	3	697	c.330G>A	c.(328-330)caG>caA	p.Q110Q	CCDC136_ENST00000464832.1_Silent_p.Q160Q|CCDC136_ENST00000487361.1_Silent_p.Q110Q|CCDC136_ENST00000378685.4_Silent_p.Q160Q	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	110	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q110Q(2)|p.Q226Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCACCAAGCAGATCCAGCAGC	0.582																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											24.0	29.0	27.0					7																	128434806		1738	3585	5323	-	-	-	SO:0001819	synonymous_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.330G>A	7.37:g.128434806G>A			A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	NULL	p.Q110	ENST00000297788.4	37	c.330	CCDS47704.1	7																																																																																			CCDC136	-	NULL	ENSG00000128596		0.582	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	48	0.00	0	G	NM_022742		128434806	128434806	+1	no_errors	ENST00000297788	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	1.000	A
CCNT2	905	genome.wustl.edu	37	2	135676546	135676547	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr2:135676546_135676547insA	ENST00000264157.5	+	1	152_153	c.122_123insA	c.(121-126)gccaacfs	p.N42fs	CCNT2_ENST00000537343.1_5'UTR|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA|CCNT2_ENST00000295238.6_Frame_Shift_Ins_p.N42fs|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000392929.2_RNA	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	42					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CAGCAGGCGGCCAACCTCATCC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	Exception_encountered	2.37:g.135676546_135676547insA	ENSP00000264157:p.Asn42fs		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Frame_Shift_Ins	INS	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.N42fs	ENST00000264157.5	37	c.122_123	CCDS2174.1	2																																																																																			CCNT2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000082258		0.634	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	137	0.00	0	-	NM_058241		135676546	135676547	+1	no_errors	ENST00000264157	ensembl	human	known	69_37n	frame_shift_ins	61	24.69	20	INS	1.000:1.000	A
CDCA7	83879	genome.wustl.edu	37	2	174230273	174230273	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr2:174230273G>A	ENST00000347703.3	+	6	895	c.751G>A	c.(751-753)Gag>Aag	p.E251K	CDCA7_ENST00000410101.3_Missense_Mutation_p.E286K|CDCA7_ENST00000306721.3_Missense_Mutation_p.E330K|CDCA7_ENST00000392567.2_Missense_Mutation_p.E251K|CDCA7_ENST00000410019.3_Missense_Mutation_p.E209K	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	251	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E330K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GGAGGAGTTGGAGAACGTCTG	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	71.0	72.0					2																	174230273		2203	4300	6503	-	-	-	SO:0001583	missense	0			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.751G>A	2.37:g.174230273G>A	ENSP00000272789:p.Glu251Lys		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.E330K	ENST00000347703.3	37	c.988	CCDS2253.1	2	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790813	0.50102	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.46819	0.9;0.86;0.87;0.91;0.9	5.71	3.87	0.44632	.	0.512426	0.24035	N	0.042146	T	0.33585	0.0868	L	0.38175	1.15	0.30949	N	0.725009	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.004;0.002;0.002;0.005	T	0.26189	-1.0110	10	0.34782	T	0.22	-7.0781	5.8378	0.18617	0.2699:0.139:0.5911:0.0	.	209;286;251;330	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	K	251;251;330;286;209	ENSP00000272789:E251K;ENSP00000376348:E251K;ENSP00000306968:E330K;ENSP00000386656:E286K;ENSP00000386833:E209K	ENSP00000306968:E330K	E	+	1	0	CDCA7	173938519	1.000000	0.71417	0.964000	0.40570	0.857000	0.48899	0.980000	0.29513	0.731000	0.32448	0.491000	0.48974	GAG	CDCA7	-	NULL	ENSG00000144354		0.473	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	HGNC	protein_coding	OTTHUMT00000255400.1	94	0.00	0	G	NM_031942		174230273	174230273	+1	no_errors	ENST00000306721	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.998	A
CORO1B	57175	genome.wustl.edu	37	11	67207618	67207619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr11:67207618_67207619insC	ENST00000341356.5	-	8	1087_1088	c.977_978insG	c.(976-978)ggcfs	p.G326fs	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Frame_Shift_Ins_p.G326fs	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	326					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGACCTCCAGGCCCCGCTTGGG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.978dupG	11.37:g.67207622_67207622dupC	ENSP00000340211:p.Gly326fs		B2RD45	Frame_Shift_Ins	INS	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L327fs	ENST00000341356.5	37	c.978_977	CCDS8164.1	11																																																																																			CORO1B	-	pfam_DUF1900	ENSG00000172725		0.609	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	16	0.00	0	-	NM_020441		67207618	67207619	-1	no_errors	ENST00000341356	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.996:1.000	C
CYB5R1	51706	genome.wustl.edu	37	1	202935526	202935527	+	Intron	INS	-	-	GT			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr1:202935526_202935527insGT	ENST00000367249.4	-	3	313				CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TGGAGGATGCAGAGCCAAGTGG	0.569																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.238+128->AC	1.37:g.202935526_202935527insGT			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	RNA	INS	-	NULL	ENST00000367249.4	37	NULL	CCDS1431.1	1																																																																																			CYB5R1	-	-	ENSG00000159348		0.569	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	26	0.00	0	-	NM_016243		202935526	202935527	-1	no_errors	ENST00000478009	ensembl	human	known	69_37n	rna	9	25.00	3	INS	0.000:0.000	GT
DMBT1	1755	genome.wustl.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr10:124402882_124402883insC	ENST00000338354.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)accfs	p.T2404fs	DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.T1776fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.T1124fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.T1776fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.T2404fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.T2394fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7217dupC	10.37:g.124402889_124402889dupC	ENSP00000342210:p.Thr2404fs		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Frame_Shift_Ins	INS	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.R2536fs	ENST00000338354.3	37	c.7597_7598		10																																																																																			DMBT1	-	NULL	ENSG00000187908		0.644	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	57	0.00	0	-	NM_004406		124402882	124402883	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	0.000:0.000	C
EIF2AK3	9451	genome.wustl.edu	37	2	88857363	88857364	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr2:88857363_88857364insC	ENST00000303236.3	-	17	3542_3543	c.3241_3242insG	c.(3241-3243)gacfs	p.D1081fs	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Frame_Shift_Ins_p.D930fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1081					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D1081fs*31(1)		ovary(3)	3						TCCTGGAAAGTCCAAGTCCTCA	0.446																																					GBM(138;671 1851 16235 39058 45249)	dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3242dupG	2.37:g.88857365_88857365dupC	ENSP00000307235:p.Asp1081fs		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D1081fs	ENST00000303236.3	37	c.3242_3241	CCDS33241.1	2																																																																																			EIF2AK3	-	superfamily_Kinase-like_dom	ENSG00000172071		0.446	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	430	0.00	0	-	NM_004836		88857363	88857364	-1	no_errors	ENST00000303236	ensembl	human	known	69_37n	frame_shift_ins	227	21.45	62	INS	1.000:1.000	C
FANCA	2175	genome.wustl.edu	37	16	89836576	89836576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr16:89836576delG	ENST00000389301.3	-	25	2344	c.2314delC	c.(2314-2316)cagfs	p.Q772fs	FANCA_ENST00000567284.2_5'Flank|FANCA_ENST00000568369.1_Frame_Shift_Del_p.Q772fs	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	772					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGCCTCACCTGGTGACGGAGC	0.627			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0			GRCh37	CM970490	FANCA	M							25.0	26.0	26.0					16																	89836576		2188	4288	6476	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2314delC	16.37:g.89836576delG	ENSP00000373952:p.Gln772fs		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Frame_Shift_Del	DEL	pfam_Fanconia,prints_Fanconia	p.Q772fs	ENST00000389301.3	37	c.2314	CCDS32515.1	16																																																																																			FANCA	-	NULL	ENSG00000187741		0.627	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	45	0.00	0	G			89836576	89836576	-1	no_errors	ENST00000389301	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
GATA3	2625	genome.wustl.edu	37	10	8115960	8115961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr10:8115960_8115961insC	ENST00000346208.3	+	6	1761_1762	c.1306_1307insC	c.(1306-1308)tccfs	p.S436fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.S437fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	436					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						ACACCACCCCTCCAGCATGGTC	0.629			"""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																																										-	-	-	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.1308dupC	10.37:g.8115962_8115962dupC	ENSP00000341619:p.Ser436fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S438fs	ENST00000346208.3	37	c.1309_1310	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.629	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	72	0.00	0	-	NM_001002295		8115960	8115961	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	37	38.33	23	INS	1.000:1.000	C
GIPC3	126326	genome.wustl.edu	37	19	3590123	3590123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr19:3590123delT	ENST00000322315.5	+	6	919	c.874delT	c.(874-876)ttcfs	p.F292fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	292										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTTCGCCTTCCCCGACGA	0.667																																						dbGAP											0													38.0	43.0	41.0					19																	3590123		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.874delT	19.37:g.3590123delT	ENSP00000319254:p.Phe292fs		O75227	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.F292fs	ENST00000322315.5	37	c.874	CCDS32871.1	19																																																																																			GIPC3	-	pirsf_UCP038083_PDZ	ENSG00000179855		0.667	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1	41	0.00	0	T	NM_133261		3590123	3590123	+1	no_errors	ENST00000322315	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
GPC5	2262	genome.wustl.edu	37	13	92345973	92345973	+	Silent	SNP	G	G	A	rs566070268		TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr13:92345973G>A	ENST00000377067.3	+	3	1230	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	286					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A286A(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGCACATGGCGGAGCTTAATC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											119.0	105.0	110.0					13																	92345973		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.858G>A	13.37:g.92345973G>A			B2R726|O60436|Q9BX27	Silent	SNP	pfam_Glypican	p.A286	ENST00000377067.3	37	c.858	CCDS9468.1	13																																																																																			GPC5	-	pfam_Glypican	ENSG00000179399		0.532	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	92	0.00	0	G	NM_004466		92345973	92345973	+1	no_errors	ENST00000377067	ensembl	human	known	69_37n	silent	43	15.69	8	SNP	0.060	A
HMGN2P46	283651	genome.wustl.edu	37	15	45848230	45848231	+	lincRNA	INS	-	-	T	rs372861121|rs368577527		TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr15:45848230_45848231insT	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TTTTGTTTAGCTTTTTTTTTTT	0.322																																						dbGAP											0																																										-	-	-			0																															15.37:g.45848241_45848241dupT				RNA	INS	-	NULL	ENST00000557965.1	37	NULL		15																																																																																			HMGN2P46	-	-	ENSG00000179362		0.322	RP11-96O20.2-001	KNOWN	basic	lincRNA	HMGN2P46	HGNC	lincRNA	OTTHUMT00000416553.1	9	0.00	0	-			45848230	45848231	+1	no_errors	ENST00000313559	ensembl	human	known	69_37n	rna	3	40.00	2	INS	0.997:0.997	T
IGHM	3507	genome.wustl.edu	37	14	106322070	106322070	+	RNA	SNP	T	T	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr14:106322070T>A	ENST00000390559.2	-	0	253				AL122127.1_ENST00000581354.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.4_ENST00000581720.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCACACCACGTGTTCGTCTGT	0.627																																						dbGAP											0													114.0	115.0	115.0					14																	106322070		2087	4194	6281	-	-	-			0			X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322070T>A			P20769	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like	p.H85L	ENST00000390559.2	37	c.254		14																																																																																			IGHM	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211899		0.627	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHM	HGNC	IG_C_gene	OTTHUMT00000326272.1	75	0.00	0	T	NG_001019		106322070	106322070	-1	no_start_codon	ENST00000390559	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.004	A
ZSWIM8	23053	genome.wustl.edu	37	10	75545602	75545603	+	5'UTR	INS	-	-	G			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr10:75545602_75545603insG	ENST00000605216.1	+	0	183_184				ZSWIM8_ENST00000603114.1_5'UTR|ZSWIM8_ENST00000398706.2_5'UTR|ZSWIM8_ENST00000604729.1_5'UTR|ZSWIM8_ENST00000604524.1_5'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										cccggatccgcggggggggacc	0.762																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.-34->G	10.37:g.75545610_75545610dupG			B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	pfscan_Znf_SWIM	p.T77fs	ENST00000605216.1	37	c.220_221		10																																																																																			KIAA0913	-	NULL	ENSG00000214655		0.762	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	11	0.00	0	-	NM_001242487		75545602	75545603	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446546	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	1.000:1.000	G
LPHN3	23284	genome.wustl.edu	37	4	62935938	62935938	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr4:62935938T>G	ENST00000514591.1	+	25	4051	c.3722T>G	c.(3721-3723)gTg>gGg	p.V1241G	LPHN3_ENST00000545650.1_Missense_Mutation_p.V1241G|LPHN3_ENST00000514996.1_Missense_Mutation_p.V1275G|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000507625.1_Missense_Mutation_p.V1300G|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.V1284G|LPHN3_ENST00000504896.1_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000506720.1_Missense_Mutation_p.V1352G|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.V1343G|RP11-84A1.3_ENST00000509461.1_RNA|RP11-84A1.3_ENST00000506704.1_RNA			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1219					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V1241G(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGCAACTGTGTGCAAATCATA	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	63.0	63.0					4																	62935938		1178	2254	3432	-	-	-	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3722T>G	4.37:g.62935938T>G	ENSP00000422533:p.Val1241Gly		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.V1300G	ENST00000514591.1	37	c.3899	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.80|11.80	1.745459|1.745459	0.30955|0.30955	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T|T;T;T;T;T;T;T	0.47528|0.73789	0.84|-0.75;-0.75;-0.78;-0.71;-0.72;-0.73;-0.72	5.12|5.12	5.12|5.12	0.69794|0.69794	.|GPCR, family 2, latrophilin, C-terminal (1);	.|0.141085	.|0.47852	.|D	.|0.000218	T|T	0.82254|0.82254	0.4997|0.4997	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.78971|0.78971	-0.1993|-0.1993	7|10	0.66056|0.18276	D|T	0.02|0.48	.|.	14.9211|14.9211	0.70838|0.70838	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1241;1219	.|E9PE04;Q9HAR2	.|.;LPHN3_HUMAN	W|G	689|1241;1241;1219;1300;1284;1352;1343;1275	ENSP00000424402:C689W|ENSP00000422533:V1241G;ENSP00000439831:V1241G;ENSP00000421372:V1300G;ENSP00000421627:V1284G;ENSP00000420931:V1352G;ENSP00000425884:V1343G;ENSP00000424258:V1275G	ENSP00000424402:C689W|ENSP00000295349:V1219G	C|V	+|+	3|2	2|0	LPHN3|LPHN3	62618533|62618533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.937000|5.937000	0.70162|0.70162	1.928000|1.928000	0.55862|0.55862	0.377000|0.377000	0.23210|0.23210	TGT|GTG	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000150471		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	63	0.00	0	T			62935938	62935938	+1	no_errors	ENST00000507625	ensembl	human	known	69_37n	missense	25	39.02	16	SNP	1.000	G
LRRC4B	94030	genome.wustl.edu	37	19	51022088	51022088	+	Silent	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr19:51022088G>A	ENST00000599957.1	-	3	1079	c.882C>T	c.(880-882)caC>caT	p.H294H	LRRC4B_ENST00000389201.3_Silent_p.H294H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	294					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.H294H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAAGAGGTCGTGGGGCAGCG	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											93.0	110.0	104.0					19																	51022088		2173	4267	6440	-	-	-	SO:0001819	synonymous_variant	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.882C>T	19.37:g.51022088G>A			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H294	ENST00000599957.1	37	c.882	CCDS42595.1	19																																																																																			LRRC4B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000131409		0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	36	0.00	0	G	NM_001080457		51022088	51022088	-1	no_errors	ENST00000389201	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	A
MAML3	55534	genome.wustl.edu	37	4	140811111	140811111	+	Silent	SNP	C	C	T	rs62344937		TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr4:140811111C>T	ENST00000509479.2	-	2	2335	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	MAML3_ENST00000398940.1_Silent_p.Q32Q|MAML3_ENST00000327122.5_Silent_p.Q337Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						dbGAP											0													15.0	19.0	17.0					4																	140811111		2180	4283	6463	-	-	-	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1479G>A	4.37:g.140811111C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q493	ENST00000509479.2	37	c.1479	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	91	0.00	0	C			140811111	140811111	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	silent	83	17.82	18	SNP	1.000	T
APEH	327	genome.wustl.edu	37	3	49722497	49722498	+	IGR	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr3:49722497_49722498insC	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Ins_p.S524fs|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTCACTAGAGACCCCCCGCAGA	0.589																																						dbGAP											0										9,4133		1,7,2063						4.8	0.9			10	2,8020		0,2,4009	no	frameshift	MST1	NM_020998.3		1,9,6072	A1A1,A1R,RR		0.0249,0.2173,0.0904				11,12153				-	-	-	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722503_49722503dupC			Q9BQ33|Q9P0Y2	Frame_Shift_Ins	INS	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S523fs	ENST00000296456.5	37	c.1570_1569	CCDS2801.1	3																																																																																			MST1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000173531		0.589	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	13	0.00	0	-			49722497	49722498	-1	no_errors	ENST00000449682	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.997:0.333	C
MTR	4548	genome.wustl.edu	37	1	236959013	236959013	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr1:236959013G>A	ENST00000366577.5	+	1	404	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	MTR_ENST00000418145.2_Silent_p.P131P|MTR_ENST00000535889.1_Missense_Mutation_p.A4T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	4					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.A4T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CATGTCACCCGCGCTCCAAGA	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											99.0	77.0	85.0					1																	236959013		2203	4300	6503	-	-	-	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.10G>A	1.37:g.236959013G>A	ENSP00000355536:p.Ala4Thr		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.A4T	ENST00000366577.5	37	c.10	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874115	0.51695	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.67698	-0.27;-0.28	3.79	2.88	0.33553	.	0.724609	0.12300	N	0.481202	T	0.49508	0.1561	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33085	-0.9882	10	0.07644	T	0.81	0.3173	7.4859	0.27432	0.1172:0.0:0.8828:0.0	.	4;4;4	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	T	4	ENSP00000355536:A4T;ENSP00000441845:A4T	ENSP00000355536:A4T	A	+	1	0	MTR	235025636	0.257000	0.24022	0.127000	0.21898	0.967000	0.64934	2.004000	0.40854	1.158000	0.42547	0.638000	0.83543	GCG	MTR	-	NULL	ENSG00000116984		0.642	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	45	0.00	0	G	NM_000254		236959013	236959013	+1	no_errors	ENST00000366577	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.159	A
OR51A7	119687	genome.wustl.edu	37	11	4929530	4929530	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr11:4929530G>T	ENST00000359350.4	+	1	931	c.931G>T	c.(931-933)Ggg>Tgg	p.G311W	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G311W(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAATGTATGTGGGAGATAAGA	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	68.0	69.0					11																	4929530		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.931G>T	11.37:g.4929530G>T	ENSP00000352305:p.Gly311Trp		Q6IFH8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G311W	ENST00000359350.4	37	c.931	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441600	0.25900	.	.	ENSG00000176895	ENST00000359350	T	0.15256	2.44	4.72	-1.54	0.08584	.	.	.	.	.	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.39185	0.293	T	0.25467	-1.0131	9	0.72032	D	0.01	.	4.906	0.13799	0.5543:0.168:0.2777:0.0	.	311	Q8NH64	O51A7_HUMAN	W	311	ENSP00000352305:G311W	ENSP00000352305:G311W	G	+	1	0	OR51A7	4886106	0.071000	0.21146	0.016000	0.15963	0.037000	0.13140	0.429000	0.21412	-0.173000	0.10761	-0.345000	0.07892	GGG	OR51A7	-	NULL	ENSG00000176895		0.393	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	90	0.00	0	G	NM_001004749		4929530	4929530	+1	no_errors	ENST00000359350	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	0.006	T
PARP3	10039	genome.wustl.edu	37	3	51981815	51981815	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr3:51981815C>A	ENST00000417220.2	+	11	1824	c.1336C>A	c.(1336-1338)Ctg>Atg	p.L446M	PARP3_ENST00000431474.1_Missense_Mutation_p.L446M|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Missense_Mutation_p.L453M			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	446	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L453M(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGAGGTGGCCCTGGGCAGAGA	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	148.0	149.0					3																	51981815		2072	4212	6284	-	-	-	SO:0001583	missense	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1336C>A	3.37:g.51981815C>A	ENSP00000395951:p.Leu446Met		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L453M	ENST00000417220.2	37	c.1357	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319041	0.60524	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.22539	1.95;1.95;1.95	5.2	2.39	0.29439	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.49098	0.1537	M	0.92169	3.28	0.41466	D	0.988075	D;D	0.89917	1.0;1.0	D;D	0.76071	0.978;0.987	T	0.50617	-0.8807	10	0.87932	D	0	-8.1188	6.3763	0.21509	0.0:0.6507:0.1308:0.2185	.	453;446	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	M	446;446;453	ENSP00000395951:L446M;ENSP00000401511:L446M;ENSP00000381740:L453M	ENSP00000381740:L453M	L	+	1	2	PARP3	51956855	0.981000	0.34729	0.967000	0.41034	0.846000	0.48090	2.555000	0.45854	0.589000	0.29677	0.561000	0.74099	CTG	PARP3	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000041880		0.612	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	201	0.00	0	C	NM_005485.4		51981815	51981815	+1	no_errors	ENST00000398755	ensembl	human	known	69_37n	missense	130	22.62	38	SNP	0.883	A
PCDHGA11	56105	genome.wustl.edu	37	5	140801563	140801564	+	In_Frame_Ins	INS	-	-	AGG			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr5:140801563_140801564insAGG	ENST00000398587.2	+	1	802_803	c.769_770insAGG	c.(769-771)agc>aAGGgc	p.257_257S>KG	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_In_Frame_Ins_p.257_257S>KG|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S257I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAACATCAGCTCCGGAACT	0.48																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001652	inframe_insertion	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	Exception_encountered	5.37:g.140801563_140801564insAGG	ENSP00000381589:p.Ser257delinsLysGly		B7ZVY8|Q9Y5D8|Q9Y5D9	In_Frame_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S257in_frame_insKG	ENST00000398587.2	37	c.769_770	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000253873		0.480	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	49	0.00	0	-	NM_018914		140801563	140801564	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	in_frame_ins	29	34.09	15	INS	0.115:0.122	AGG
PRKG2	5593	genome.wustl.edu	37	4	82074711	82074711	+	Intron	SNP	T	T	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr4:82074711T>A	ENST00000395578.1	-	7	1107				PRKG2_ENST00000545647.1_Splice_Site|PRKG2_ENST00000418486.2_Intron|PRKG2_ENST00000264399.1_Intron|PRKG2_ENST00000509169.1_Splice_Site			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II						blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTGGAGGACCTATGTTGCAAT	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.990+86A>T	4.37:g.82074711T>A			B4DMX3|E7EPE6|O00125|O60916	Splice_Site	SNP	-	e1-2	ENST00000395578.1	37	c.1-2	CCDS3589.1	4																																																																																			PRKG2	-	-	ENSG00000138669		0.383	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	35	0.00	0	T	NM_006259		82074711	82074711	-1	no_errors	ENST00000545647	ensembl	human	known	69_37n	splice_site	25	28.57	10	SNP	0.001	A
RARB	5915	genome.wustl.edu	37	3	25542800	25542800	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr3:25542800G>A	ENST00000404969.1	+	3	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E	RARB_ENST00000458646.1_Missense_Mutation_p.G33E|RARB_ENST00000437042.2_Missense_Mutation_p.G33E|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.G145E			P10826	RARB_HUMAN	retinoic acid receptor, beta	152					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G152E(1)|p.G145E(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTTGAAGTGGGAATGTCCAAA	0.393																																						dbGAP											2	Substitution - Missense(2)	breast(2)											97.0	96.0	96.0					3																	25542800		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.455G>A	3.37:g.25542800G>A	ENSP00000385865:p.Gly152Glu		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.G152E	ENST00000404969.1	37	c.455		3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510981	0.85389	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.99338	-5.76;-5.76;-5.76;-5.76;-5.76	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.99675	4.695	0.80722	D	1	P;D	0.55605	0.954;0.972	D;P	0.65323	0.934;0.903	D	0.96711	0.9525	10	0.87932	D	0	.	17.5994	0.88022	0.0:0.0:1.0:0.0	.	152;145	P10826;F1D8S6	RARB_HUMAN;.	E	152;152;152;33;145;33	ENSP00000373282:G152E;ENSP00000385865:G152E;ENSP00000398840:G33E;ENSP00000332296:G145E;ENSP00000391391:G33E	ENSP00000332296:G145E	G	+	2	0	RARB	25517804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.138000	0.66242	0.650000	0.86243	GGA	RARB	-	pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000077092		0.393	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		162	0.00	0	G	NM_000965, NM_016152		25542800	25542800	+1	no_errors	ENST00000404969	ensembl	human	known	69_37n	missense	73	31.82	35	SNP	1.000	A
ROCK1	6093	genome.wustl.edu	37	18	18586384	18586384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr18:18586384G>A	ENST00000399799.2	-	16	2753	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	605	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q605*(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCTTGCAGCTGGTAATAATCT	0.363																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											132.0	128.0	130.0					18																	18586384		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1813C>T	18.37:g.18586384G>A	ENSP00000382697:p.Gln605*		B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q605*	ENST00000399799.2	37	c.1813	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	G	47	13.344578	0.99736	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.65	5.65	0.86999	.	0.195775	0.45361	D	0.000370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	605	.	ENSP00000382697:Q605X	Q	-	1	0	ROCK1	16840382	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.349000	0.79376	2.941000	0.99782	0.655000	0.94253	CAG	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000067900		0.363	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	536	0.00	0	G	NM_005406		18586384	18586384	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	nonsense	269	41.94	195	SNP	1.000	A
SHPRH	257218	genome.wustl.edu	37	6	146262775	146262776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr6:146262775_146262776insC	ENST00000367505.2	-	10	2737_2738	c.2473_2474insG	c.(2473-2475)gagfs	p.E825fs	SHPRH_ENST00000367503.3_Frame_Shift_Ins_p.E825fs|SHPRH_ENST00000275233.7_Frame_Shift_Ins_p.E825fs|SHPRH_ENST00000438092.2_Frame_Shift_Ins_p.E825fs			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	825	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTGGGACACTCAACCATCTGA	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2474dupG	6.37:g.146262776_146262776dupC	ENSP00000356475:p.Glu825fs		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.E825fs	ENST00000367505.2	37	c.2474_2473	CCDS43513.2	6																																																																																			SHPRH	-	pfam_SNF2_N,smart_Helicase_ATP-bd	ENSG00000146414		0.495	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	44	0.00	0	-	NM_173082		146262775	146262776	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	frame_shift_ins	14	22.22	4	INS	1.000:1.000	C
SLC20A2	6575	genome.wustl.edu	37	8	42297142	42297142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr8:42297142G>A	ENST00000342228.3	-	7	1129	c.760C>T	c.(760-762)Cga>Tga	p.R254*	SLC20A2_ENST00000520179.1_Nonsense_Mutation_p.R254*|SLC20A2_ENST00000520262.1_Nonsense_Mutation_p.R254*	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	254					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.R254*(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCAGATACTCGTGATAAAGCA	0.393																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											129.0	121.0	124.0					8																	42297142		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.760C>T	8.37:g.42297142G>A	ENSP00000340465:p.Arg254*			Nonsense_Mutation	SNP	pfam_Phos_transporter	p.R254*	ENST00000342228.3	37	c.760	CCDS6132.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.170150	0.94768	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	.	.	.	6.06	2.94	0.34122	.	0.158625	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-4.2359	13.2598	0.60098	0.0:0.0:0.5449:0.4551	.	.	.	.	X	254	.	ENSP00000340465:R254X	R	-	1	2	SLC20A2	42416299	0.557000	0.26546	0.003000	0.11579	0.425000	0.31504	2.004000	0.40854	0.830000	0.34757	0.650000	0.86243	CGA	SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.393	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	146	0.00	0	G			42297142	42297142	-1	no_errors	ENST00000342228	ensembl	human	known	69_37n	nonsense	60	24.05	19	SNP	0.017	A
SNCAIP	9627	genome.wustl.edu	37	5	121726839	121726839	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr5:121726839C>T	ENST00000261368.8	+	2	272	c.10C>T	c.(10-12)Cct>Tct	p.P4S	SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_5'UTR|SNCAIP_ENST00000379538.3_5'UTR|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P4S|SNCAIP_ENST00000504884.2_Missense_Mutation_p.P4S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P4S|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P4S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P4S	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	4					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.P4S(3)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATGGAAGCCCCTGAATACCT	0.358																																						dbGAP											3	Substitution - Missense(3)	breast(3)											122.0	118.0	120.0					5																	121726839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.10C>T	5.37:g.121726839C>T	ENSP00000261368:p.Pro4Ser		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P4S	ENST00000261368.8	37	c.10	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505948	0.85282	.	.	ENSG00000064692	ENST00000514467;ENST00000506272;ENST00000508681;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000514497;ENST00000261367;ENST00000509652;ENST00000503116;ENST00000504884	T;T;T;T;T;T;T;T;T;T	0.68025	1.64;-0.23;1.64;1.64;1.64;2.32;1.64;2.32;3.4;-0.3	5.54	5.54	0.83059	.	0.214451	0.49305	D	0.000153	T	0.76421	0.3985	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.997	D;P;D	0.83275	0.996;0.839;0.986	T	0.77983	-0.2382	10	0.87932	D	0	-10.6023	18.6083	0.91275	0.0:1.0:0.0:0.0	.	4;4;4	D6R9G8;Q9Y6H5-3;Q9Y6H5	.;.;SNCAP_HUMAN	S	4	ENSP00000427090:P4S;ENSP00000426551:P4S;ENSP00000422610:P4S;ENSP00000422106:P4S;ENSP00000261368:P4S;ENSP00000368848:P4S;ENSP00000368851:P4S;ENSP00000261367:P4S;ENSP00000423199:P4S;ENSP00000426904:P4S	ENSP00000261367:P4S	P	+	1	0	SNCAIP	121754738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.985000	0.63845	2.765000	0.95021	0.655000	0.94253	CCT	SNCAIP	-	NULL	ENSG00000064692		0.358	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	281	0.00	0	C			121726839	121726839	+1	no_errors	ENST00000379533	ensembl	human	known	69_37n	missense	205	17.00	42	SNP	1.000	T
SP3	6670	genome.wustl.edu	37	2	174819671	174819674	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs16841942	byFrequency	TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr2:174819671_174819674delTGTT	ENST00000310015.6	-	4	2096_2099	c.1566_1569delAACA	c.(1564-1569)caaacafs	p.QT522fs	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Frame_Shift_Del_p.QT469fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.QT454fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	522					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.T523fs*3(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCACTGTAACTGTTTGTAGATTTG	0.456																																						dbGAP											1	Deletion - Frameshift(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1566_1569delAACA	2.37:g.174819671_174819674delTGTT	ENSP00000310301:p.Gln522fs		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Del	DEL	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T523fs	ENST00000310015.6	37	c.1569_1566	CCDS2254.1	2																																																																																			SP3	-	NULL	ENSG00000172845		0.456	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	86	0.00	0	TGTT	NM_003111		174819671	174819674	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	frame_shift_del	52	18.75	12	DEL	1.000:1.000:1.000:1.000	-
SVIL	6840	genome.wustl.edu	37	10	29762771	29762772	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr10:29762771_29762772insC	ENST00000355867.4	-	30	6276_6277	c.5524_5525insG	c.(5524-5526)gccfs	p.A1842fs	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Ins_p.A756fs|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375400.3_Frame_Shift_Ins_p.A1416fs|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Ins_p.A1842fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1842					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTCACCTGGGCCCCCCTTTCC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5525dupG	10.37:g.29762777_29762777dupC	ENSP00000348128:p.Ala1842fs		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Ins	INS	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.A1842fs	ENST00000355867.4	37	c.5525_5524	CCDS7164.1	10																																																																																			SVIL	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000197321		0.639	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	41	0.00	0	-			29762771	29762772	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:0.998	C
TCEB3	6924	genome.wustl.edu	37	1	24078341	24078342	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr1:24078341_24078342delCC	ENST00000418390.2	+	4	1595_1596	c.1324_1325delCC	c.(1324-1326)cccfs	p.P442fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.P416fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	442					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTATGACCAGCCCCGGAAGAAA	0.431											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1324_1325delCC	1.37:g.24078343_24078344delCC	ENSP00000395574:p.Pro442fs	768	B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.R443fs	ENST00000418390.2	37	c.1324_1325	CCDS239.2	1																																																																																			TCEB3	-	NULL	ENSG00000011007		0.431	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	32	0.00	0	CC	NM_003198		24078341	24078342	+1	no_errors	ENST00000418390	ensembl	human	known	69_37n	frame_shift_del	49	71.35	122	DEL	1.000:1.000	-
TIE1	7075	genome.wustl.edu	37	1	43773137	43773137	+	Silent	SNP	G	G	A			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr1:43773137G>A	ENST00000372476.3	+	6	886	c.807G>A	c.(805-807)caG>caA	p.Q269Q	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Silent_p.Q269Q|TIE1_ENST00000538015.1_Silent_p.Q269Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	269	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q269Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGCTGCCAGGAGCAGTGCC	0.647																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											38.0	45.0	43.0					1																	43773137		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.807G>A	1.37:g.43773137G>A			B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.Q269	ENST00000372476.3	37	c.807	CCDS482.1	1																																																																																			TIE1	-	smart_EGF-like	ENSG00000066056		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	102	0.00	0	G	NM_005424		43773137	43773137	+1	no_errors	ENST00000372476	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179425252	179425252	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr2:179425252G>T	ENST00000591111.1	-	276	80908	c.80684C>A	c.(80683-80685)cCc>cAc	p.P26895H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P19471H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19596H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19663H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P28536H|TTN_ENST00000342992.6_Missense_Mutation_p.P25968H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26895	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P19663H(1)|p.P25968H(1)|p.P25966H(1)|p.P19471H(1)|p.P19596H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCTAGGGGCTCACCAAC	0.383																																						dbGAP											5	Substitution - Missense(5)	breast(5)											64.0	62.0	63.0					2																	179425252		1869	4102	5971	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80684C>A	2.37:g.179425252G>T	ENSP00000465570:p.Pro26895His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P25968H	ENST00000591111.1	37	c.77903		2	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004549	0.35320	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.88	4.98	0.66077	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69405	0.3107	H	0.96691	3.865	0.39851	D	0.973248	B;B;B;B	0.12013	0.001;0.0;0.0;0.005	B;B;B;B	0.18561	0.003;0.001;0.002;0.022	T	0.74494	-0.3647	9	0.87932	D	0	.	16.2032	0.82103	0.0:0.0:0.8658:0.1342	.	19471;19596;19663;26895	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	25968;19471;19663;19596;19468	ENSP00000343764:P25968H;ENSP00000434586:P19471H;ENSP00000340554:P19663H;ENSP00000352154:P19596H	ENSP00000340554:P19663H	P	-	2	0	TTN	179133498	0.997000	0.39634	0.456000	0.27044	0.918000	0.54935	6.699000	0.74613	1.445000	0.47624	0.655000	0.94253	CCC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	103	0.00	0	G	NM_133378		179425252	179425252	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	0.992	T
ZNF800	168850	genome.wustl.edu	37	7	127026205	127026205	+	Silent	SNP	A	A	G			TCGA-B6-A0IN-01A-11W-A050-09	TCGA-B6-A0IN-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee2c9198-cea3-4a54-b96b-834a70c30d2f	a4819d1f-61d6-4804-89de-3a3867e8fbbc	g.chr7:127026205A>G	ENST00000393313.1	-	3	657	c.66T>C	c.(64-66)taT>taC	p.Y22Y	ZNF800_ENST00000265827.3_Silent_p.Y22Y|ZNF800_ENST00000393312.1_Silent_p.Y22Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y22Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTTCCAGGATATAAACTACAT	0.363																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											105.0	99.0	101.0					7																	127026205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.66T>C	7.37:g.127026205A>G			Q9HBN0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y22	ENST00000393313.1	37	c.66	CCDS5795.1	7																																																																																			ZNF800	-	NULL	ENSG00000048405		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	160	0.00	0	A	NM_176814		127026205	127026205	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	silent	60	34.07	31	SNP	1.000	G
