#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
ABCG1	9619	genome.wustl.edu	37	21	43693544	43693544	+	Splice_Site	SNP	T	T	A	rs75083034		TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr21:43693544T>A	ENST00000361802.2	+	4	681	c.536T>A	c.(535-537)aTg>aAg	p.M179K	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Splice_Site_p.M181K|ABCG1_ENST00000347800.2_Splice_Site_p.M176K|ABCG1_ENST00000398449.3_Splice_Site_p.M179K|ABCG1_ENST00000398437.1_Splice_Site_p.M325K|ABCG1_ENST00000340588.4_Splice_Site_p.M287K|ABCG1_ENST00000343687.3_Splice_Site_p.M190K	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	179	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGGCCATGATGGTGAgctcc	0.677																																						dbGAP											0													40.0	39.0	40.0					21																	43693544		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.537+1T>A	21.37:g.43693544T>A			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.M325K	ENST00000361802.2	37	c.974	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015894	0.75161	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;D;T;T;T;T;T	0.92805	1.0;1.0;-3.11;1.0;1.0;1.0;1.0;1.0	4.77	4.77	0.60923	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	N	0.20574	0.59	0.80722	D	1	B;B;B;B;B;D	0.53462	0.059;0.005;0.234;0.009;0.009;0.96	B;B;B;B;B;D	0.66979	0.036;0.021;0.168;0.012;0.021;0.948	D	0.90825	0.4712	9	.	.	.	-43.6249	14.6024	0.68450	0.0:0.0:0.0:1.0	.	190;190;179;179;176;181	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	K	181;176;179;179;179;190;325;287	ENSP00000381475:M181K;ENSP00000291524:M176K;ENSP00000414541:M179K;ENSP00000381467:M179K;ENSP00000354995:M179K;ENSP00000339744:M190K;ENSP00000381464:M325K;ENSP00000343820:M287K	.	M	+	2	0	ABCG1	42566613	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.319000	0.79040	1.917000	0.55516	0.533000	0.62120	ATG	ABCG1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	ENSG00000160179		0.677	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	25	0.00	0	T	NM_207174	Missense_Mutation	43693544	43693544	+1	no_errors	ENST00000398437	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	A
ABO	28	genome.wustl.edu	37	9	136131313	136131314	+	RNA	INS	-	-	C			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr9:136131313_136131314insC	ENST00000453660.2	-	0	814_815				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CCCCCGAAGAACCCCCCCAGGT	0.668																																						dbGAP											0																																										-	-	-			0			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131320_136131320dupC			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	INS	-	NULL	ENST00000453660.2	37	NULL		9																																																																																			ABO	-	-	ENSG00000175164		0.668	ABO-001	KNOWN	basic	processed_transcript	ABO	HGNC	processed_transcript	OTTHUMT00000054907.4	29	0.00	0	-	NM_020469		136131313	136131314	-1	no_errors	ENST00000453660	ensembl	human	known	69_37n	rna	27	10.00	3	INS	0.116:0.001	C
CACNA1D	776	genome.wustl.edu	37	3	53844194	53844194	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr3:53844194C>T	ENST00000350061.5	+	47	6572	c.6061C>T	c.(6061-6063)Cgc>Tgc	p.R2021C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1997C|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R2041C|CACNA1D_ENST00000544977.1_3'UTR	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2021					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCCCTGCACCGCAGCTCCTG	0.627																																						dbGAP											0													56.0	56.0	56.0					3																	53844194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6061C>T	3.37:g.53844194C>T	ENSP00000288133:p.Arg2021Cys		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.R2041C	ENST00000350061.5	37	c.6121	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653099	0.47362	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.34	5.34	0.76211	.	0.164580	0.40554	N	0.001073	T	0.61324	0.2338	L	0.27053	0.805	0.80722	D	1	D;B;B;D	0.89917	1.0;0.006;0.006;1.0	P;B;B;D	0.65010	0.794;0.003;0.003;0.931	T	0.62868	-0.6763	10	0.56958	D	0.05	.	12.3153	0.54953	0.2124:0.7876:0.0:0.0	.	1997;1714;2021;2041	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	2021;2041;1997;1714	ENSP00000288133:R2021C;ENSP00000288139:R2041C;ENSP00000409174:R1997C;ENSP00000418014:R1714C	ENSP00000288139:R2041C	R	+	1	0	CACNA1D	53819234	0.997000	0.39634	1.000000	0.80357	0.822000	0.46500	2.697000	0.47060	2.672000	0.90937	0.557000	0.71058	CGC	CACNA1D	-	NULL	ENSG00000157388		0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	48	0.00	0	C	NM_000720		53844194	53844194	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	T
CEP164	22897	genome.wustl.edu	37	11	117252486	117252487	+	Frame_Shift_Ins	INS	-	-	C	rs114396665	byFrequency	TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr11:117252486_117252487insC	ENST00000278935.3	+	13	1626_1627	c.1479_1480insC	c.(1480-1482)cctfs	p.P494fs	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	494	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P495fs*43(2)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTGAAGAAGAGCCTCCCCAGGG	0.668																																						dbGAP											2	Insertion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1481dupC	11.37:g.117252488_117252488dupC	ENSP00000278935:p.Pro494fs		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Frame_Shift_Ins	INS	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.P494fs	ENST00000278935.3	37	c.1479_1480	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.668	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	13	0.00	0	-	NM_014956		117252486	117252487	+1	no_errors	ENST00000278935	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	0.299:0.293	C
CHGB	1114	genome.wustl.edu	37	20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T	rs553869356		TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr20:5903619C>T	ENST00000378961.4	+	4	1033	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	277						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R277*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18067	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Nonsense(1)	lung(1)											38.0	40.0	40.0					20																	5903619		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.829C>T	20.37:g.5903619C>T	ENSP00000368244:p.Arg277*		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.R277*	ENST00000378961.4	37	c.829	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.334779	0.95758	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	.	.	.	5.45	5.45	0.79879	.	0.273852	0.28796	N	0.014108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0173	12.9475	0.58382	0.2688:0.7312:0.0:0.0	.	.	.	.	X	277;257	.	ENSP00000368244:R277X	R	+	1	2	CHGB	5851619	1.000000	0.71417	0.958000	0.39756	0.601000	0.36947	1.152000	0.31663	2.547000	0.85894	0.563000	0.77884	CGA	CHGB	-	pfam_Granin	ENSG00000089199		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	88	0.00	0	C	NM_001819		5903619	5903619	+1	no_errors	ENST00000378961	ensembl	human	known	69_37n	nonsense	38	44.29	31	SNP	0.979	T
DNAH8	1769	genome.wustl.edu	37	6	38851106	38851106	+	Silent	SNP	G	G	A			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr6:38851106G>A	ENST00000359357.3	+	53	7613	c.7359G>A	c.(7357-7359)ttG>ttA	p.L2453L	DNAH8_ENST00000449981.2_Silent_p.L2670L|DNAH8_ENST00000441566.1_Silent_p.L2417L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2453	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCTGTTTTGCTCACAGGAG	0.333																																						dbGAP											0													94.0	95.0	95.0					6																	38851106		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7359G>A	6.37:g.38851106G>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L2453	ENST00000359357.3	37	c.7359		6																																																																																			DNAH8	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000124721		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	300	0.00	0	G	NM_001206927		38851106	38851106	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	silent	262	37.32	156	SNP	1.000	A
EWSR1	2130	genome.wustl.edu	37	22	29668221	29668221	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr22:29668221delC	ENST00000397938.2	+	2	349	c.30delC	c.(28-30)agcfs	p.S10fs	EWSR1_ENST00000332035.6_Frame_Shift_Del_p.S10fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.S10fs|EWSR1_ENST00000333395.6_Frame_Shift_Del_p.S10fs|EWSR1_ENST00000331029.7_Frame_Shift_Del_p.S10fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.S10fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.S10fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	10	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTACCTATAGCCAAGCTGCAG	0.388			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													152.0	147.0	149.0					22																	29668221		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.30delC	22.37:g.29668221delC	ENSP00000381031:p.Ser10fs		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Del	DEL	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.Q11fs	ENST00000397938.2	37	c.30	CCDS13851.1	22																																																																																			EWSR1	-	NULL	ENSG00000182944		0.388	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	112	0.00	0	C	NM_005243		29668221	29668221	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	frame_shift_del	65	35.64	36	DEL	1.000	-
GAP43	2596	genome.wustl.edu	37	3	115395170	115395170	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr3:115395170G>T	ENST00000305124.6	+	2	707	c.341G>T	c.(340-342)gGg>gTg	p.G114V	GAP43_ENST00000393780.3_Missense_Mutation_p.G150V	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	114					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAGAAGAAGGGGGAGGGTGAT	0.612																																						dbGAP											0													30.0	34.0	33.0					3																	115395170		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.341G>T	3.37:g.115395170G>T	ENSP00000305010:p.Gly114Val		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS	p.G114V	ENST00000305124.6	37	c.341	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866918	0.51588	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.61980	0.06;0.06	5.06	-0.259	0.12971	Neuromodulin (GAP-43), C-terminal (1);	0.320663	0.32372	N	0.006190	T	0.59918	0.2229	L	0.58101	1.795	0.43152	D	0.994923	P;B	0.35793	0.521;0.193	B;B	0.40901	0.343;0.129	T	0.65459	-0.6163	10	0.66056	D	0.02	-2.281	13.3602	0.60652	0.0667:0.5508:0.3825:0.0	.	150;114	A8K0Y4;P17677	.;NEUM_HUMAN	V	114;150	ENSP00000305010:G114V;ENSP00000377372:G150V	ENSP00000305010:G114V	G	+	2	0	GAP43	116877860	0.062000	0.20869	0.828000	0.32881	0.886000	0.51366	0.318000	0.19504	0.264000	0.21851	0.650000	0.86243	GGG	GAP43	-	pfam_Neuromodulin_C	ENSG00000172020		0.612	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	111	0.89	1	G	NM_002045		115395170	115395170	+1	no_errors	ENST00000305124	ensembl	human	known	69_37n	missense	57	34.48	30	SNP	0.106	T
GBP6	163351	genome.wustl.edu	37	1	89843685	89843685	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr1:89843685G>T	ENST00000370456.4	+	4	435	c.342G>T	c.(340-342)tgG>tgT	p.W114C	GBP6_ENST00000535065.1_5'UTR	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	114	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATGACTCCTGGATCTTTGCCC	0.473																																						dbGAP											0													201.0	198.0	199.0					1																	89843685		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.342G>T	1.37:g.89843685G>T	ENSP00000359485:p.Trp114Cys		A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.W114C	ENST00000370456.4	37	c.342	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493444	0.64186	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	T	0.75477	-0.94	4.97	4.97	0.65823	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.89658	3.05	0.80722	D	1	D	0.60575	0.988	P	0.57679	0.825	D	0.87790	0.2618	10	0.87932	D	0	-11.2927	15.7122	0.77641	0.0:0.0:1.0:0.0	.	114	Q6ZN66	GBP6_HUMAN	C	85;114	ENSP00000359485:W114C	ENSP00000359485:W114C	W	+	3	0	GBP6	89616273	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.929000	0.63455	2.297000	0.77311	0.585000	0.79938	TGG	GBP6	-	pfam_Guanylate-bd_N	ENSG00000183347		0.473	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	194	0.00	0	G	NM_198460		89843685	89843685	+1	no_errors	ENST00000370456	ensembl	human	known	69_37n	missense	160	30.90	72	SNP	1.000	T
INO80B	83444	genome.wustl.edu	37	2	74684835	74684835	+	Silent	SNP	G	G	C			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr2:74684835G>C	ENST00000233331.7	+	5	1009	c.915G>C	c.(913-915)ccG>ccC	p.P305P	WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	305					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCTCAGGCCCGCCGCCGCGCT	0.692																																						dbGAP											0													13.0	14.0	13.0					2																	74684835		2148	4231	6379	-	-	-	SO:0001819	synonymous_variant	0			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.915G>C	2.37:g.74684835G>C				Silent	SNP	pfam_PAPA1,pfam_Znf_HIT	p.P305	ENST00000233331.7	37	c.915	CCDS1942.2	2																																																																																			INO80B	-	pfam_Znf_HIT	ENSG00000115274		0.692	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	HGNC	protein_coding	OTTHUMT00000252223.2	23	0.00	0	G	NM_031288		74684835	74684835	+1	no_errors	ENST00000452361	ensembl	human	known	69_37n	silent	16	40.74	11	SNP	0.002	C
GULP1	51454	genome.wustl.edu	37	2	189405977	189405977	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr2:189405977T>C	ENST00000409580.1	+	8	1045	c.331T>C	c.(331-333)Ttc>Ctc	p.F111L	GULP1_ENST00000409843.1_Missense_Mutation_p.F111L|GULP1_ENST00000359135.3_Missense_Mutation_p.F111L|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000410051.1_Missense_Mutation_p.F111L|GULP1_ENST00000409609.1_Missense_Mutation_p.F111L|GULP1_ENST00000409637.3_Missense_Mutation_p.F111L|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_Missense_Mutation_p.F111L			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	111	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CAAGAGGATATTCACTTTCAT	0.353																																					Pancreas(178;563 2065 20199 42378 52815)	dbGAP											0													125.0	120.0	122.0					2																	189405977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.331T>C	2.37:g.189405977T>C	ENSP00000386289:p.Phe111Leu		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.F111L	ENST00000409580.1	37	c.331	CCDS2295.1	2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733803	0.89482	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T	0.74421	-0.84;-0.84;1.53;-0.84;-0.84;1.53;-0.84	5.5	5.5	0.81552	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.73598	2.24	0.80722	D	1	D;D;B	0.89917	0.999;1.0;0.003	D;D;B	0.85130	0.992;0.997;0.009	D	0.87413	0.2377	10	0.87932	D	0	-4.4428	15.0782	0.72093	0.0:0.0:0.0:1.0	.	111;111;111	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	L	111	ENSP00000387144:F111L;ENSP00000386732:F111L;ENSP00000387013:F111L;ENSP00000352047:F111L;ENSP00000386289:F111L;ENSP00000386402:F111L;ENSP00000386867:F111L	ENSP00000352047:F111L	F	+	1	0	GULP1	189114222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.249000	0.72427	2.212000	0.71576	0.528000	0.53228	TTC	GULP1	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000144366		0.353	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	HGNC	protein_coding	OTTHUMT00000335722.1	127	0.00	0	T	NM_016315		189405977	189405977	+1	no_errors	ENST00000359135	ensembl	human	known	69_37n	missense	108	46.27	93	SNP	1.000	C
LMBR1L	55716	genome.wustl.edu	37	12	49496159	49496159	+	Splice_Site	SNP	T	T	A			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr12:49496159T>A	ENST00000267102.8	-	10	1112	c.770A>T	c.(769-771)aAt>aTt	p.N257I	LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000395141.4_Splice_Site_p.N252I|LMBR1L_ENST00000547382.1_Splice_Site_p.N257I	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	257					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGAAGTAGGATCTGAGGGCAG	0.557																																						dbGAP											0													144.0	129.0	134.0					12																	49496159		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.770-1A>T	12.37:g.49496159T>A			Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.N257I	ENST00000267102.8	37	c.770	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893315	0.52121	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.31769	1.48;1.48;1.48	6.17	6.17	0.99709	LMBR1-like membrane protein (1);	0.220734	0.53938	D	0.000051	T	0.18882	0.0453	N	0.19112	0.55	0.35645	D	0.811281	B;B;B;B;P	0.38078	0.386;0.355;0.062;0.077;0.617	B;B;B;B;B	0.35655	0.035;0.111;0.016;0.04;0.207	T	0.26224	-1.0109	10	0.52906	T	0.07	.	7.4995	0.27509	0.1397:0.0:0.1459:0.7144	.	255;257;257;257;252	Q6UX01-2;Q6UX01-5;Q6UX01-3;Q6UX01;Q6UX01-4	.;.;.;LMBRL_HUMAN;.	I	257;257;252	ENSP00000267102:N257I;ENSP00000447329:N257I;ENSP00000378573:N252I	ENSP00000267102:N257I	N	-	2	0	LMBR1L	47782426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.410000	0.44592	2.371000	0.80710	0.533000	0.62120	AAT	LMBR1L	-	pfam_LMBR1-like_membr_prot	ENSG00000139636		0.557	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	96	0.00	0	T	NM_018113	Missense_Mutation	49496159	49496159	-1	no_errors	ENST00000267102	ensembl	human	known	69_37n	missense	75	36.97	44	SNP	1.000	A
RUNX1T1	862	genome.wustl.edu	37	8	92972572	92972572	+	Silent	SNP	C	C	T			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr8:92972572C>T	ENST00000523629.1	-	12	2167	c.1713G>A	c.(1711-1713)acG>acA	p.T571T	RUNX1T1_ENST00000422361.2_Silent_p.T534T|RUNX1T1_ENST00000436581.2_Silent_p.T582T|RUNX1T1_ENST00000520724.1_Silent_p.T534T|RUNX1T1_ENST00000396218.1_Silent_p.T544T|RUNX1T1_ENST00000518844.1_Silent_p.T544T|RUNX1T1_ENST00000360348.2_Silent_p.T534T|RUNX1T1_ENST00000265814.3_Silent_p.T571T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	571					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGCTGTTGGGCGTGACAGAGG	0.622																																						dbGAP											0													82.0	63.0	69.0					8																	92972572		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1713G>A	8.37:g.92972572C>T			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.T582	ENST00000523629.1	37	c.1746	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL	ENSG00000079102		0.622	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	43	0.00	0	C	NM_004349, NM_175635		92972572	92972572	-1	no_errors	ENST00000436581	ensembl	human	known	69_37n	silent	118	29.48	51	SNP	0.850	T
SACS	26278	genome.wustl.edu	37	13	23930148	23930148	+	Splice_Site	SNP	T	T	G			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr13:23930148T>G	ENST00000382292.3	-	7	878		c.e7-2		SACS_ENST00000402364.1_Splice_Site|SACS_ENST00000382298.3_Splice_Site|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone						cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGAACATCTGTAAAGAAAA	0.333																																						dbGAP											0													30.0	31.0	31.0					13																	23930148		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.605-2A>C	13.37:g.23930148T>G			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Splice_Site	SNP	-	e7-2	ENST00000382292.3	37	c.605-2	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844415	0.71488	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000455470	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SACS	22828148	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	.	SACS	-	-	ENSG00000151835		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	68	0.00	0	T	NM_014363	Intron	23930148	23930148	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	splice_site	45	34.78	24	SNP	1.000	G
SCUBE1	80274	genome.wustl.edu	37	22	43603586	43603586	+	Missense_Mutation	SNP	C	C	T	rs546345952		TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr22:43603586C>T	ENST00000360835.4	-	21	2894	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	923					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCGCCCATCGCGCACGATGTC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19890	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													113.0	109.0	111.0					22																	43603586		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2768G>A	22.37:g.43603586C>T	ENSP00000354080:p.Arg923His		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.R923H	ENST00000360835.4	37	c.2768	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600738	0.87055	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86562	-2.14	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.88566	0.6471	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90589	0.4535	10	0.87932	D	0	.	15.5332	0.75980	0.0:1.0:0.0:0.0	.	923	Q8IWY4	SCUB1_HUMAN	H	923;553	ENSP00000354080:R923H	ENSP00000354080:R923H	R	-	2	0	SCUBE1	41933530	1.000000	0.71417	0.310000	0.25168	0.952000	0.60782	7.512000	0.81728	2.066000	0.61787	0.313000	0.20887	CGC	SCUBE1	-	NULL	ENSG00000159307		0.587	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	12	0.00	0	C	NM_173050		43603586	43603586	-1	no_errors	ENST00000360835	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.980	T
SMCHD1	23347	genome.wustl.edu	37	18	2700752	2700752	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr18:2700752C>T	ENST00000320876.6	+	12	1821	c.1483C>T	c.(1483-1485)Cct>Tct	p.P495S	SMCHD1_ENST00000261598.8_Missense_Mutation_p.P495S|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	495					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTGTACTCCTCCTAAGAAGAG	0.338																																						dbGAP											0													69.0	63.0	65.0					18																	2700752		1832	4075	5907	-	-	-	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1483C>T	18.37:g.2700752C>T	ENSP00000326603:p.Pro495Ser		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.P495S	ENST00000320876.6	37	c.1483	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390196	0.62066	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24538	1.85;1.86	5.65	5.65	0.86999	.	.	.	.	.	T	0.47948	0.1473	L	0.47716	1.5	0.48632	D	0.999687	D	0.89917	1.0	D	0.83275	0.996	T	0.41233	-0.9520	9	0.87932	D	0	.	19.7302	0.96179	0.0:1.0:0.0:0.0	.	495	A6NHR9	SMHD1_HUMAN	S	495	ENSP00000326603:P495S;ENSP00000261598:P495S	ENSP00000261598:P495S	P	+	1	0	SMCHD1	2690752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.266000	0.58871	2.655000	0.90218	0.655000	0.94253	CCT	SMCHD1	-	NULL	ENSG00000101596		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	101	0.00	0	C			2700752	2700752	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	27	64.00	48	SNP	1.000	T
UGT2A1	10941	genome.wustl.edu	37	4	70504971	70504971	+	Intron	SNP	T	T	A			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr4:70504971T>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000514019.1_Missense_Mutation_p.I331F|UGT2A2_ENST00000457664.2_Missense_Mutation_p.I130F|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGTATGTTAATTTGAAAGAAA	0.388																																						dbGAP											0													89.0	86.0	87.0					4																	70504971		1850	4087	5937	-	-	-	SO:0001627	intron_variant	0			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7676A>T	4.37:g.70504971T>A			B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.I130F	ENST00000503640.1	37	c.388	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	T	0.830	-0.745652	0.03065	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.61742	0.21;0.08	5.85	2.06	0.26882	.	.	.	.	.	T	0.31888	0.0811	N	0.08118	0	.	.	.	B;P	0.35348	0.351;0.496	B;B	0.35770	0.21;0.125	T	0.36089	-0.9762	8	0.13470	T	0.59	.	8.1223	0.30978	0.0:0.3128:0.0:0.6872	.	331;130	E9PDM7;Q9Y4X1-2	.;.	F	130;331	ENSP00000387888:I130F;ENSP00000425497:I331F	ENSP00000387888:I130F	I	-	1	0	UGT2A1	70539560	0.002000	0.14202	0.547000	0.28179	0.124000	0.20399	0.079000	0.14782	0.483000	0.27608	0.477000	0.44152	ATT	UGT2A1	-	pfam_UDP_glucos_trans	ENSG00000173610		0.388	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	256	0.00	0	T	NM_006798		70504971	70504971	-1	no_errors	ENST00000457664	ensembl	human	known	69_37n	missense	195	36.48	112	SNP	0.001	A
ZNF45	7596	genome.wustl.edu	37	19	44419341	44419341	+	Silent	SNP	G	G	A			TCGA-BH-A0H6-01A-21W-A071-09	TCGA-BH-A0H6-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bbed00d2-9791-464d-a1ba-28fd56a0504e	6ddf4ce5-5956-4394-af6e-f840573ac67e	g.chr19:44419341G>A	ENST00000269973.5	-	10	1337	c.247C>T	c.(247-249)Cta>Tta	p.L83L	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.L83L	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	83					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATCTCTTTTAGATTCTTGGCT	0.403																																						dbGAP											0													36.0	36.0	36.0					19																	44419341		2153	4280	6433	-	-	-	SO:0001819	synonymous_variant	0			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.247C>T	19.37:g.44419341G>A			P17016|P78472|Q9P1U9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L83	ENST00000269973.5	37	c.247	CCDS12632.1	19																																																																																			ZNF45	-	NULL	ENSG00000124459		0.403	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	105	0.00	0	G	NM_003425		44419341	44419341	-1	no_errors	ENST00000269973	ensembl	human	known	69_37n	silent	58	42.00	42	SNP	0.021	A
