#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
APTX	54840	genome.wustl.edu	37	9	32987555	32987555	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr9:32987555G>C	ENST00000379819.1	-	4	511	c.512C>G	c.(511-513)gCa>gGa	p.A171G	APTX_ENST00000397172.3_Intron|APTX_ENST00000379817.2_Missense_Mutation_p.A157G|APTX_ENST00000379825.2_Missense_Mutation_p.A171G|APTX_ENST00000463596.1_Missense_Mutation_p.A157G|APTX_ENST00000468275.1_Missense_Mutation_p.A157G|APTX_ENST00000309615.3_Missense_Mutation_p.A171G|APTX_ENST00000436040.2_Missense_Mutation_p.A157G|APTX_ENST00000379813.3_Missense_Mutation_p.A157G|APTX_ENST00000476858.1_Missense_Mutation_p.A117G			Q7Z2E3	APTX_HUMAN	aprataxin	171					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TTTGATAGGTGCATCTTTTCC	0.443								Editing and processing nucleases																														dbGAP											0													125.0	129.0	128.0					9																	32987555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.512C>G	9.37:g.32987555G>C	ENSP00000369147:p.Ala171Gly		A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT	p.A171G	ENST00000379819.1	37	c.512		9	.	.	.	.	.	.	.	.	.	.	G	2.405	-0.336753	0.05278	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91631	-1.89;-1.89;-1.88;0.89;-1.89;-1.88;-1.88;-2.88;-1.88;-2.39	5.37	-1.1	0.09872	.	1.298040	0.04336	N	0.353196	T	0.82204	0.4986	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.66256	-0.5969	10	0.17832	T	0.49	-0.0255	1.6024	0.02677	0.1579:0.1364:0.3111:0.3946	.	117;171;103;171	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	G	171;171;157;157;171;157;157;117;171;157;117;103	ENSP00000369153:A171G;ENSP00000311547:A171G;ENSP00000369145:A157G;ENSP00000400806:A157G;ENSP00000369147:A171G;ENSP00000420263:A157G;ENSP00000419846:A157G;ENSP00000419042:A117G;ENSP00000369141:A157G;ENSP00000419020:A117G	ENSP00000311547:A171G	A	-	2	0	APTX	32977555	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	0.191000	0.17076	-0.391000	0.07763	-0.143000	0.13931	GCA	APTX	-	NULL	ENSG00000137074		0.443	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	APTX	HGNC	protein_coding	OTTHUMT00000052028.2	277	0.00	0	G	NM_017692		32987555	32987555	-1	no_errors	ENST00000379819	ensembl	human	known	69_37n	missense	240	34.07	124	SNP	0.000	C
ATN1	1822	genome.wustl.edu	37	12	7047646	7047646	+	Silent	SNP	G	G	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr12:7047646G>A	ENST00000356654.4	+	7	2757	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K	ATN1_ENST00000396684.2_Silent_p.K840K	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	840					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCCCACAGAAGTTGGCTCAGG	0.567											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													27.0	28.0	28.0					12																	7047646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2520G>A	12.37:g.7047646G>A		638	Q99495|Q99621|Q9UEK7	Silent	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.K840	ENST00000356654.4	37	c.2520	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.567	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	65	0.00	0	G	NM_001940		7047646	7047646	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	silent	23	43.90	18	SNP	0.994	A
BPI	671	genome.wustl.edu	37	20	36962894	36962894	+	Splice_Site	SNP	C	C	T	rs201394770		TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr20:36962894C>T	ENST00000262865.4	+	13	1436	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	449					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCAGGGTTAACGGTAAGGAAC	0.507																																						dbGAP											0													278.0	237.0	251.0					20																	36962894		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1348+1C>T	20.37:g.36962894C>T			B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.T275M	ENST00000262865.4	37	c.824	CCDS13303.1	20	.	.	.	.	.	.	.	.	.	.	C	0.989	-0.694715	0.03303	.	.	ENSG00000101425	ENST00000417318	.	.	.	3.57	-6.18	0.02085	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.25750	N	0.985062	.	.	.	.	.	.	T	0.35871	-0.9771	4	.	.	.	-30.6255	12.2456	0.54568	0.0:0.2778:0.0:0.7222	.	.	.	.	M	275	.	.	T	+	2	0	BPI	36396308	0.001000	0.12720	0.014000	0.15608	0.070000	0.16714	-4.723000	0.00194	-1.538000	0.01734	-0.751000	0.03497	ACG	BPI	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000101425		0.507	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BPI	HGNC	protein_coding	OTTHUMT00000079157.2	312	0.63	2	C	NM_001725	Silent	36962894	36962894	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000417318	ensembl	human	novel	69_37n	missense	291	35.48	160	SNP	0.017	T
CGRRF1	10668	genome.wustl.edu	37	14	54996904	54996904	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr14:54996904G>T	ENST00000216420.7	+	3	514	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	128					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AGCATTAGAAGATGCTCTGTA	0.383																																						dbGAP											0													63.0	62.0	62.0					14																	54996904		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.382G>T	14.37:g.54996904G>T	ENSP00000216420:p.Asp128Tyr		Q96BX2	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.D128Y	ENST00000216420.7	37	c.382	CCDS9719.1	14	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019326	0.19355	.	.	ENSG00000100532	ENST00000216420;ENST00000557317	T;T	0.30448	1.53;1.7	5.39	4.5	0.54988	.	0.292918	0.42420	D	0.000705	T	0.31327	0.0793	L	0.36672	1.1	0.26388	N	0.976622	P;P	0.44090	0.826;0.651	P;B	0.47470	0.548;0.347	T	0.13602	-1.0503	10	0.72032	D	0.01	-11.1713	10.5866	0.45286	0.1465:0.0:0.8535:0.0	.	128;128	B2RCX4;Q99675	.;CGRF1_HUMAN	Y	128;160	ENSP00000216420:D128Y;ENSP00000450430:D160Y	ENSP00000216420:D128Y	D	+	1	0	CGRRF1	54066654	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	4.281000	0.58965	1.506000	0.48736	0.650000	0.86243	GAT	CGRRF1	-	NULL	ENSG00000100532		0.383	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	HGNC	protein_coding	OTTHUMT00000276905.2	147	0.00	0	G	NM_006568		54996904	54996904	+1	no_errors	ENST00000216420	ensembl	human	known	69_37n	missense	270	11.76	36	SNP	1.000	T
DCAF17	80067	genome.wustl.edu	37	2	172291597	172291597	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr2:172291597G>A	ENST00000375255.3	+	2	458	c.131G>A	c.(130-132)aGt>aAt	p.S44N	METTL8_ENST00000375258.4_5'Flank|DCAF17_ENST00000539783.1_Missense_Mutation_p.S44N|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	44					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTAGGAAAGTACTAAATTT	0.338																																						dbGAP											0													83.0	78.0	79.0					2																	172291597		1809	4079	5888	-	-	-	SO:0001583	missense	0			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.131G>A	2.37:g.172291597G>A	ENSP00000364404:p.Ser44Asn		B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	NULL	p.S44N	ENST00000375255.3	37	c.131	CCDS2243.2	2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622692	0.46840	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.46819	0.86;0.86	5.94	5.94	0.96194	.	0.047988	0.85682	D	0.000000	T	0.33527	0.0866	L	0.27053	0.805	0.33811	D	0.627832	B;B	0.33266	0.404;0.172	B;B	0.30316	0.114;0.059	T	0.46871	-0.9160	10	0.30854	T	0.27	-14.7088	12.5086	0.55995	0.0768:0.0:0.9232:0.0	.	44;44	F5H7W1;Q5H9S7	.;DCA17_HUMAN	N	44	ENSP00000364404:S44N;ENSP00000442238:S44N	ENSP00000364404:S44N	S	+	2	0	DCAF17	171999843	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	3.167000	0.50793	2.832000	0.97577	0.650000	0.86243	AGT	DCAF17	-	NULL	ENSG00000115827		0.338	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	109	0.00	0	G	NM_025000		172291597	172291597	+1	no_errors	ENST00000375255	ensembl	human	known	69_37n	missense	29	46.43	26	SNP	1.000	A
DLG5	9231	genome.wustl.edu	37	10	79570872	79570873	+	Frame_Shift_Ins	INS	-	-	G	rs2289310	byFrequency	TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr10:79570872_79570873insG	ENST00000372391.2	-	23	4447_4448	c.4442_4443insC	c.(4441-4443)ccafs	p.P1481fs	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Frame_Shift_Ins_p.P1141fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1481			P -> Q (in dbSNP:rs2289310). {ECO:0000269|PubMed:15489334}.		apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTGCTTGGCTGGGGGGGTGCT	0.649																																						dbGAP											0			GRCh37	CM066561	DLG5	M	rs2289310																																			-	-	-	SO:0001589	frameshift_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4443dupC	10.37:g.79570879_79570879dupG	ENSP00000361467:p.Pro1481fs		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Ins	INS	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A1482fs	ENST00000372391.2	37	c.4443_4442	CCDS7353.2	10																																																																																			DLG5	-	superfamily_PDZ	ENSG00000151208		0.649	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	28	0.00	0	-			79570872	79570873	-1	no_errors	ENST00000372391	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	0.852:0.901	G
EMILIN2	84034	genome.wustl.edu	37	18	2909695	2909695	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr18:2909695C>T	ENST00000254528.3	+	7	2861	c.2702C>T	c.(2701-2703)cCg>cTg	p.P901L	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	901	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Pro-rich.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGAGCTCCGGTGCCTTCT	0.597																																						dbGAP											0													92.0	92.0	92.0					18																	2909695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2702C>T	18.37:g.2909695C>T	ENSP00000254528:p.Pro901Leu		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.P901L	ENST00000254528.3	37	c.2702	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948593	0.18356	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.36340	1.26	5.8	1.03	0.20045	Complement C1q protein (1);	0.258413	0.33075	N	0.005311	T	0.27900	0.0687	L	0.54323	1.7	0.09310	N	1	B	0.18968	0.032	B	0.12156	0.007	T	0.17228	-1.0376	10	0.41790	T	0.15	-7.5406	5.7887	0.18349	0.0:0.5261:0.1245:0.3494	.	901	Q9BXX0	EMIL2_HUMAN	L	901;178	ENSP00000254528:P901L	ENSP00000254528:P901L	P	+	2	0	EMILIN2	2899695	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	0.049000	0.14099	0.099000	0.17552	0.655000	0.94253	CCG	EMILIN2	-	smart_C1q,pfscan_C1q	ENSG00000132205		0.597	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	63	0.00	0	C	NM_032048		2909695	2909695	+1	no_errors	ENST00000254528	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.000	T
FAM188B	84182	genome.wustl.edu	37	7	30818062	30818062	+	Silent	SNP	A	A	C			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr7:30818062A>C	ENST00000265299.6	+	2	155	c.78A>C	c.(76-78)acA>acC	p.T26T	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	26										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAAAGAAGACATGTGTGACCA	0.428																																						dbGAP											0													83.0	84.0	84.0					7																	30818062		1982	4164	6146	-	-	-	SO:0001819	synonymous_variant	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.78A>C	7.37:g.30818062A>C			Q71AZ7|Q9H6D2	Silent	SNP	NULL	p.T26	ENST00000265299.6	37	c.78	CCDS43565.1	7																																																																																			FAM188B	-	NULL	ENSG00000106125		0.428	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	76	0.00	0	A	NM_032222		30818062	30818062	+1	no_errors	ENST00000265299	ensembl	human	known	69_37n	silent	62	29.55	26	SNP	0.166	C
FANCM	57697	genome.wustl.edu	37	14	45644374	45644375	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr14:45644374_45644375insT	ENST00000267430.5	+	14	2502_2503	c.2417_2418insT	c.(2416-2421)agtgacfs	p.D807fs	FANCM_ENST00000542564.2_Frame_Shift_Ins_p.D781fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	807					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATCTTGCCAGTGACACCTTTA	0.351								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2418dupT	14.37:g.45644375_45644375dupT	ENSP00000267430:p.Asp807fs		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Ins	INS	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D807fs	ENST00000267430.5	37	c.2417_2418	CCDS32070.1	14																																																																																			FANCM	-	NULL	ENSG00000187790		0.351	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	143	0.00	0	-	XM_048128		45644374	45644375	+1	no_errors	ENST00000267430	ensembl	human	known	69_37n	frame_shift_ins	100	39.39	65	INS	0.000:0.000	T
GATA3	2625	genome.wustl.edu	37	10	8111513	8111514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr10:8111513_8111514insG	ENST00000346208.3	+	5	1454_1455	c.999_1000insG	c.(1000-1002)gggfs	p.G334fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G335fs			P23771	GATA3_HUMAN	GATA binding protein 3	334					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N334fs*19(1)		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						GGAATGCCAATGGGGACCCTGT	0.569			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	NS(1)																																								-	-	-	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.1003dupG	10.37:g.8111517_8111517dupG	ENSP00000341619:p.Gly334fs		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.D335fs	ENST00000346208.3	37	c.1002_1003	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.569	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	49	0.00	0	-	NM_001002295		8111513	8111514	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	57	29.63	24	INS	0.859:1.000	G
GDI1	2664	genome.wustl.edu	37	X	153668416	153668416	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chrX:153668416C>T	ENST00000447750.2	+	5	852	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	173					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.R173R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGTCTACCGGAAGTTTGA	0.577																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											303.0	275.0	284.0					X																	153668416		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.517C>T	X.37:g.153668416C>T	ENSP00000394071:p.Arg173Trp		P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.R173W	ENST00000447750.2	37	c.517	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930550	0.73327	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.61510	0.1	4.78	2.78	0.32641	.	0.187016	0.47455	D	0.000237	T	0.63546	0.2520	L	0.48642	1.525	0.39569	D	0.96924	P;P	0.52061	0.95;0.81	P;B	0.61533	0.89;0.422	T	0.66200	-0.5983	10	0.87932	D	0	-23.7147	9.126	0.36816	0.5463:0.4537:0.0:0.0	.	173;173	B4DH24;P31150	.;GDIA_HUMAN	W	173;157	ENSP00000394071:R173W	ENSP00000358756:R157W	R	+	1	2	GDI1	153321610	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.036000	0.49767	0.972000	0.38314	0.529000	0.55759	CGG	GDI1	-	pfam_GDP_dissociation_inhibitor	ENSG00000203879		0.577	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	162	0.00	0	C	NM_001493		153668416	153668416	+1	no_errors	ENST00000447750	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	1.000	T
GLT8D1	55830	genome.wustl.edu	37	3	52728920	52728920	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr3:52728920C>A	ENST00000407584.3	-	11	1907	c.1057G>T	c.(1057-1059)Gac>Tac	p.D353Y	GLT8D1_ENST00000266014.5_Missense_Mutation_p.D353Y|GLT8D1_ENST00000491606.1_Missense_Mutation_p.D353Y|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000394783.3_Missense_Mutation_p.D353Y|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Missense_Mutation_p.D353Y	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	353						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGTTGGGTCTGGAATATAC	0.403																																						dbGAP											0													175.0	157.0	163.0					3																	52728920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.1057G>T	3.37:g.52728920C>A	ENSP00000385730:p.Asp353Tyr		Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D353Y	ENST00000407584.3	37	c.1057	CCDS2862.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.589696|4.589696	0.86851|0.86851	.|.	.|.	ENSG00000016864|ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606|ENST00000394786	T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78246|0.78246	0.4253|0.4253	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.77656|0.77656	-0.2506|-0.2506	10|6	0.87932|0.51188	D|T	0|0.08	-21.7828|-21.7828	20.0345|20.0345	0.97552|0.97552	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	353|.	Q68CQ7|.	GL8D1_HUMAN|.	Y|I	353|182	ENSP00000419612:D353Y;ENSP00000378263:D353Y;ENSP00000385730:D353Y;ENSP00000266014:D353Y;ENSP00000418853:D353Y|.	ENSP00000266014:D353Y|ENSP00000378266:R182I	D|R	-|-	1|2	0|0	GLT8D1|GLT8D1	52703960|52703960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.776000|7.776000	0.85560|0.85560	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAC|AGA	GLT8D1	-	NULL	ENSG00000016864		0.403	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D1	HGNC	protein_coding	OTTHUMT00000352065.3	122	0.00	0	C	NM_152932		52728920	52728920	-1	no_errors	ENST00000266014	ensembl	human	known	69_37n	missense	82	32.79	40	SNP	1.000	A
GNAZ	2781	genome.wustl.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-609)gtggggfs	p.VG202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.612dupG	22.37:g.23438494_23438494dupG	ENSP00000248996:p.Val202fs		B2R6C1|Q4QRJ6	Frame_Shift_Ins	INS	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.Q205fs	ENST00000248996.4	37	c.605_606	CCDS13804.1	22																																																																																			GNAZ	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000128266		0.574	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	HGNC	protein_coding	OTTHUMT00000319073.1	60	0.00	0	-	NM_002073		23438487	23438488	+1	no_errors	ENST00000248996	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	1.000:1.000	G
KCNC2	3747	genome.wustl.edu	37	12	75444552	75444552	+	Silent	SNP	G	G	A	rs200648638		TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr12:75444552G>A	ENST00000549446.1	-	3	1913	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	KCNC2_ENST00000550433.1_Silent_p.N411N|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Silent_p.N411N|KCNC2_ENST00000350228.2_Silent_p.N411N|KCNC2_ENST00000540018.1_Silent_p.N411N|KCNC2_ENST00000341669.3_Silent_p.N411N|KCNC2_ENST00000393288.2_Silent_p.N411N|KCNC2_ENST00000298972.1_Silent_p.N411N	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	411					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.N411K(2)|p.N411N(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CTGAAGGGTCGTTAGGTTGAG	0.453													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21078	0.0		0.0	False		,,,				2504	0.0					dbGAP											4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|endometrium(2)											77.0	71.0	73.0					12																	75444552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1233C>T	12.37:g.75444552G>A			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.N411	ENST00000549446.1	37	c.1233	CCDS9007.1	12																																																																																			KCNC2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2	ENSG00000166006		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	165	0.00	0	G	NM_153748		75444552	75444552	-1	no_errors	ENST00000549446	ensembl	human	known	69_37n	silent	129	61.38	205	SNP	0.996	A
KPNA5	3841	genome.wustl.edu	37	6	117050794	117050794	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr6:117050794T>C	ENST00000368564.1	+	13	1470	c.1322T>C	c.(1321-1323)gTc>gCc	p.V441A	KPNA5_ENST00000356348.1_Missense_Mutation_p.V441A			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	438					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCCAAAATAGTCCAAGTGGCT	0.353																																						dbGAP											0													93.0	97.0	95.0					6																	117050794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1322T>C	6.37:g.117050794T>C	ENSP00000357552:p.Val441Ala		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.V441A	ENST00000368564.1	37	c.1322	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699016	0.88830	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70399	-0.48;-0.48	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.82632	0.5079	M	0.84585	2.705	0.54753	D	0.999988	D	0.64830	0.994	D	0.68192	0.956	D	0.85819	0.1384	10	0.72032	D	0.01	.	16.0951	0.81114	0.0:0.0:0.0:1.0	.	438	O15131	IMA5_HUMAN	A	441	ENSP00000357552:V441A;ENSP00000348704:V441A	ENSP00000348704:V441A	V	+	2	0	KPNA5	117157487	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.856000	0.86956	2.199000	0.70637	0.528000	0.53228	GTC	KPNA5	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000196911		0.353	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	200	0.00	0	T	NM_002269		117050794	117050794	+1	no_errors	ENST00000356348	ensembl	human	known	69_37n	missense	166	40.50	113	SNP	0.999	C
LETM1	3954	genome.wustl.edu	37	4	1836578	1836578	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr4:1836578G>T	ENST00000302787.2	-	5	1166	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	290	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCACCTTCTGGAAAAACACAG	0.557																																						dbGAP											0													125.0	114.0	118.0					4																	1836578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.870C>A	4.37:g.1836578G>T	ENSP00000305653:p.Phe290Leu		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.F290L	ENST00000302787.2	37	c.870	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888215	0.52014	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.38722	1.12	5.2	2.04	0.26737	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.52011	1.625	0.53005	D	0.999961	D;D;D	0.71674	0.998;0.998;0.989	D;D;P	0.76071	0.987;0.987;0.761	T	0.48747	-0.9008	10	0.41790	T	0.15	-28.1448	10.9439	0.47289	0.3453:0.0:0.6547:0.0	.	290;250;290	O95202-3;O95202-2;O95202	.;.;LETM1_HUMAN	L	290;250	ENSP00000305653:F290L	ENSP00000305653:F290L	F	-	3	2	LETM1	1806376	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	1.301000	0.33447	0.582000	0.29556	0.486000	0.48141	TTC	LETM1	-	pfam_LETM1	ENSG00000168924		0.557	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	53	0.00	0	G			1836578	1836578	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.999	T
LONP1	9361	genome.wustl.edu	37	19	5708352	5708352	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr19:5708352C>T	ENST00000360614.3	-	5	1090		c.e5+1		LONP1_ENST00000540670.2_Splice_Site|LONP1_ENST00000593119.1_Splice_Site|LONP1_ENST00000585374.1_Splice_Site|LONP1_ENST00000590729.1_Splice_Site	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGGCCCACCTGTAGAGAG	0.637																																						dbGAP											0													61.0	53.0	56.0					19																	5708352		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.932+1G>A	19.37:g.5708352C>T				Splice_Site	SNP	-	e5+1	ENST00000360614.3	37	c.932+1	CCDS12148.1	19	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785497	0.70337	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	.	.	.	4.73	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1718	0.48575	0.0:0.9053:0.0:0.0947	.	.	.	.	.	-1	.	.	.	-	.	.	LONP1	5659352	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	5.445000	0.66594	2.178000	0.69098	0.462000	0.41574	.	LONP1	-	-	ENSG00000196365		0.637	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000451662.1	14	0.00	0	C	NM_004793	Intron	5708352	5708352	-1	no_errors	ENST00000360614	ensembl	human	known	69_37n	splice_site	3	72.73	8	SNP	1.000	T
MAML3	55534	genome.wustl.edu	37	4	140811265	140811265	+	Missense_Mutation	SNP	G	G	A	rs547610978	byFrequency	TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr4:140811265G>A	ENST00000509479.2	-	2	2181	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	MAML3_ENST00000327122.5_Missense_Mutation_p.P286L|MAML3_ENST00000398940.1_5'Flank	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)					CACTGCTGCCGGATTCAGGAG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19643	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													56.0	55.0	55.0					4																	140811265		2108	4245	6353	-	-	-	SO:0001583	missense	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.1325C>T	4.37:g.140811265G>A	ENSP00000421180:p.Pro442Leu			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.P442L	ENST00000509479.2	37	c.1325	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973676	0.34848	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26660	1.72	5.51	4.64	0.57946	.	0.060165	0.64402	D	0.000002	T	0.32102	0.0818	L	0.41236	1.265	0.80722	D	1	D	0.67145	0.996	P	0.51385	0.668	T	0.03008	-1.1083	10	0.51188	T	0.08	.	15.7609	0.78080	0.0:0.0:0.8633:0.1367	.	442	Q96JK9	MAML3_HUMAN	L	442;286	ENSP00000421180:P442L	ENSP00000313316:P286L	P	-	2	0	MAML3	141030715	1.000000	0.71417	0.964000	0.40570	0.402000	0.30811	4.399000	0.59703	2.577000	0.86979	0.650000	0.86243	CCG	MAML3	-	NULL	ENSG00000196782		0.582	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	196	0.00	0	G			140811265	140811265	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	missense	89	46.75	79	SNP	0.999	A
MED24	9862	genome.wustl.edu	37	17	38182541	38182541	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr17:38182541A>T	ENST00000394128.2	-	19	1934	c.1853T>A	c.(1852-1854)gTg>gAg	p.V618E	MED24_ENST00000501516.3_Missense_Mutation_p.V637E|MED24_ENST00000394126.1_Missense_Mutation_p.V643E|MED24_ENST00000356271.3_Missense_Mutation_p.V605E|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Missense_Mutation_p.V605E	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	618					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACAGCACACACCGCCAGACT	0.552																																						dbGAP											0													175.0	156.0	162.0					17																	38182541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1853T>A	17.37:g.38182541A>T	ENSP00000377686:p.Val618Glu		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.V618E	ENST00000394128.2	37	c.1853	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838502	0.51057	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.57752	0.38;0.38;0.38	4.79	4.79	0.61399	Mediator complex, subunit Med24, N-terminal (1);	0.055820	0.64402	D	0.000001	T	0.67692	0.2920	L	0.61218	1.895	0.80722	D	1	P;D;D;D;D	0.63046	0.835;0.99;0.99;0.992;0.99	P;P;P;D;P	0.64877	0.553;0.885;0.885;0.93;0.885	T	0.71938	-0.4441	10	0.87932	D	0	-25.8349	14.5045	0.67743	1.0:0.0:0.0:0.0	.	568;528;605;618;560	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	E	618;618;618;568;605;560;89;528	ENSP00000377686:V618E;ENSP00000443344:V568E;ENSP00000377685:V605E	ENSP00000348610:V618E	V	-	2	0	MED24	35436067	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.131000	0.94446	2.005000	0.58758	0.533000	0.62120	GTG	MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.552	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	177	0.00	0	A	NM_014815		38182541	38182541	-1	no_errors	ENST00000394128	ensembl	human	known	69_37n	missense	35	55.56	45	SNP	1.000	T
MLLT10	8028	genome.wustl.edu	37	10	21884363	21884363	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr10:21884363T>A	ENST00000307729.7	+	5	577	c.399T>A	c.(397-399)taT>taA	p.Y133*	MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377072.3_Nonsense_Mutation_p.Y133*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.Y133*|MLLT10_ENST00000377059.3_Nonsense_Mutation_p.Y133*			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	133	Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATGATCGTTATAATAAGGTAC	0.368			T	"""MLL, PICALM, CDK6"""	AL																																	dbGAP		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0													88.0	80.0	83.0					10																	21884363		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.399T>A	10.37:g.21884363T>A	ENSP00000307411:p.Tyr133*		B1ANA8|Q5JT37|Q5VX90|Q66K63	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Y133*	ENST00000307729.7	37	c.399	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841311	0.51057	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377059	.	.	.	4.1	-0.944	0.10392	.	0.219869	0.37483	N	0.002070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5171	0.44896	0.0:0.473:0.0:0.527	.	.	.	.	X	133	.	ENSP00000307411:Y133X	Y	+	3	2	MLLT10	21924369	0.990000	0.36364	0.994000	0.49952	0.961000	0.63080	0.252000	0.18278	-0.381000	0.07882	0.260000	0.18958	TAT	MLLT10	-	NULL	ENSG00000078403		0.368	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	162	0.00	0	T			21884363	21884363	+1	no_errors	ENST00000307729	ensembl	human	known	69_37n	nonsense	105	35.19	57	SNP	0.985	A
MYOM1	8736	genome.wustl.edu	37	18	3090726	3090726	+	Silent	SNP	C	C	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr18:3090726C>T	ENST00000356443.4	-	27	4272	c.3939G>A	c.(3937-3939)gaG>gaA	p.E1313E	MYOM1_ENST00000400569.3_Silent_p.E1313E|MYOM1_ENST00000261606.7_Silent_p.E1217E|RNU7-25P_ENST00000516544.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1313					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTACGTTCCCTCATCCTCAT	0.398																																						dbGAP											0													200.0	196.0	197.0					18																	3090726		1968	4154	6122	-	-	-	SO:0001819	synonymous_variant	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3939G>A	18.37:g.3090726C>T			Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1313	ENST00000356443.4	37	c.3939	CCDS45824.1	18																																																																																			MYOM1	-	smart_Ig_sub	ENSG00000101605		0.398	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	147	0.00	0	C	NM_003803		3090726	3090726	-1	no_errors	ENST00000356443	ensembl	human	known	69_37n	silent	42	52.81	47	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152499685	152499686	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr2:152499685_152499686insT	ENST00000172853.10	-	58	8285_8286	c.8138_8139insA	c.(8137-8139)aacfs	p.N2713fs	NEB_ENST00000603639.1_Frame_Shift_Ins_p.N2713fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.N2713fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.N2713fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.N2713fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.N2713fs			P20929	NEBU_HUMAN	nebulin	2713					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATAGCATTGTTTTTTGCCAA	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8139dupA	2.37:g.152499691_152499691dupT	ENSP00000172853:p.Asn2713fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.N2713fs	ENST00000172853.10	37	c.8139_8138		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.356	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		233	0.00	0	-	NM_004543		152499685	152499686	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	frame_shift_ins	136	16.05	26	INS	0.998:1.000	T
OTP	23440	genome.wustl.edu	37	5	76932789	76932789	+	Missense_Mutation	SNP	G	G	T	rs199804262	byFrequency	TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr5:76932789G>T	ENST00000306422.3	-	2	1442	c.304C>A	c.(304-306)Cag>Aag	p.Q102K	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	102					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TTCTGCTTCTGTTGGCCCTGC	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		14598	0.0		0.003	False		,,,				2504	0.0					dbGAP											0													77.0	83.0	81.0					5																	76932789		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.304C>A	5.37:g.76932789G>T	ENSP00000302814:p.Gln102Lys			Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeodomain	p.Q102K	ENST00000306422.3	37	c.304	CCDS4039.1	5	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	22.4	4.291003	0.80914	.	.	ENSG00000171540	ENST00000306422	D	0.95447	-3.71	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92672	0.7671	L	0.27053	0.805	0.50039	D	0.999845	P	0.48764	0.915	P	0.47299	0.543	D	0.90550	0.4508	10	0.13108	T	0.6	.	18.1494	0.89669	0.0:0.0:1.0:0.0	.	102	Q5XKR4	OTP_HUMAN	K	102	ENSP00000302814:Q102K	ENSP00000302814:Q102K	Q	-	1	0	OTP	76968545	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.817000	0.69229	2.705000	0.92388	0.655000	0.94253	CAG	OTP	-	superfamily_Homeodomain-like,pfscan_Homeodomain	ENSG00000171540		0.667	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTP	HGNC	protein_coding	OTTHUMT00000220016.2	82	0.00	0	G			76932789	76932789	-1	no_errors	ENST00000306422	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	T
PCK2	5106	genome.wustl.edu	37	14	24568928	24568928	+	Splice_Site	SNP	A	A	C			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr14:24568928A>C	ENST00000216780.4	+	6	1282	c.1014A>C	c.(1012-1014)gaA>gaC	p.E338D	PCK2_ENST00000396973.4_Splice_Site_p.E338D|PCK2_ENST00000558096.1_Splice_Site_p.E204D|PCK2_ENST00000559250.1_Splice_Site_p.E350D|PCK2_ENST00000545054.2_Splice_Site_p.E204D|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Splice_Site_p.E204D	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	338					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGACAGTGAAGGTGAGGGAC	0.517																																						dbGAP											0													209.0	179.0	189.0					14																	24568928		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1015+1A>C	14.37:g.24568928A>C			O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.E338D	ENST00000216780.4	37	c.1014	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	A	8.481	0.859731	0.17178	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.06849	3.25;3.25;3.25	5.5	-8.34	0.00988	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.280145	0.45606	N	0.000341	T	0.01695	0.0054	N	0.02120	-0.675	0.43088	D	0.99475	B;B;B;B	0.09022	0.001;0.0;0.002;0.0	B;B;B;B	0.15052	0.012;0.012;0.007;0.006	T	0.43245	-0.9403	10	0.02654	T	1	-4.464	9.0824	0.36561	0.2559:0.5071:0.0:0.237	.	204;338;338;338	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	D	338;338;204	ENSP00000216780:E338D;ENSP00000380171:E338D;ENSP00000441826:E204D	ENSP00000216780:E338D	E	+	3	2	PCK2	23638768	0.996000	0.38824	0.953000	0.39169	0.948000	0.59901	0.536000	0.23129	-0.926000	0.03770	0.459000	0.35465	GAA	PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.517	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	143	0.00	0	A	NM_001018073	Missense_Mutation	24568928	24568928	+1	no_errors	ENST00000216780	ensembl	human	known	69_37n	missense	62	40.57	43	SNP	0.901	C
PLXNA1	5361	genome.wustl.edu	37	3	126735390	126735391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr3:126735390_126735391insC	ENST00000393409.2	+	15	3045_3046	c.3045_3046insC	c.(3046-3048)cccfs	p.P1016fs	PLXNA1_ENST00000251772.4_Frame_Shift_Ins_p.P993fs	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1016	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.Q996fs*22(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGTGCCTGACACCCCCCGGGCA	0.624																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3051dupC	3.37:g.126735396_126735396dupC	ENSP00000377061:p.Pro1016fs			Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1017fs	ENST00000393409.2	37	c.3045_3046	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000114554		0.624	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	16	0.00	0	-	NM_032242		126735390	126735391	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	0.554:0.981	C
RB1CC1	9821	genome.wustl.edu	37	8	53558327	53558327	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr8:53558327C>T	ENST00000025008.5	-	16	4445	c.3922G>A	c.(3922-3924)Gag>Aag	p.E1308K	RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1308K|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1308K|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1308					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTTTCTTGCTCTTCAAGTTGT	0.368																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													79.0	78.0	78.0					8																	53558327		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3922G>A	8.37:g.53558327C>T	ENSP00000025008:p.Glu1308Lys		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.E1308K	ENST00000025008.5	37	c.3922	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032238	0.54790	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.14766	2.48;2.48;2.48	5.52	4.65	0.58169	.	0.199032	0.44902	D	0.000410	T	0.11879	0.0289	L	0.29908	0.895	0.32996	D	0.525545	P;P	0.41848	0.763;0.651	B;B	0.42282	0.382;0.212	T	0.13791	-1.0496	10	0.41790	T	0.15	-17.1317	9.9409	0.41580	0.0:0.7895:0.138:0.0725	.	1308;1308	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	K	1308	ENSP00000025008:E1308K;ENSP00000396067:E1308K;ENSP00000445960:E1308K	ENSP00000025008:E1308K	E	-	1	0	RB1CC1	53720880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.147000	0.50639	1.352000	0.45808	0.655000	0.94253	GAG	RB1CC1	-	NULL	ENSG00000023287		0.368	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	142	0.00	0	C	NM_014781		53558327	53558327	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	missense	102	26.62	37	SNP	1.000	T
REV3L	5980	genome.wustl.edu	37	6	111695272	111695272	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr6:111695272A>G	ENST00000358835.3	-	14	4740	c.4286T>C	c.(4285-4287)aTt>aCt	p.I1429T	REV3L_ENST00000368805.1_Missense_Mutation_p.I1429T|REV3L_ENST00000435970.1_Missense_Mutation_p.I1351T|REV3L_ENST00000368802.3_Missense_Mutation_p.I1429T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1429					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TATGCACACAATCTGCTGCTG	0.413								DNA polymerases (catalytic subunits)																														dbGAP											0													167.0	146.0	153.0					6																	111695272		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4286T>C	6.37:g.111695272A>G	ENSP00000351697:p.Ile1429Thr		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.I1429T	ENST00000358835.3	37	c.4286	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	A	6.707	0.499065	0.12762	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01516	4.9;4.9;4.9;4.81	6.03	2.21	0.28008	Ribonuclease H-like (1);	5.474930	0.00166	N	0.000006	T	0.00468	0.0015	L	0.27053	0.805	0.23510	N	0.997527	B	0.02656	0.0	B	0.04013	0.001	T	0.44034	-0.9354	10	0.07813	T	0.8	-0.549	5.1197	0.14854	0.6389:0.1425:0.2186:0.0	.	1429	O60673	DPOLZ_HUMAN	T	1429;1429;1429;1351	ENSP00000357792:I1429T;ENSP00000357795:I1429T;ENSP00000351697:I1429T;ENSP00000402003:I1351T	ENSP00000351697:I1429T	I	-	2	0	REV3L	111801965	0.997000	0.39634	0.995000	0.50966	0.918000	0.54935	1.769000	0.38522	0.537000	0.28751	0.455000	0.32223	ATT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	384	0.00	0	A	NM_002912		111695272	111695272	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	275	23.18	83	SNP	0.958	G
SCN8A	6334	genome.wustl.edu	37	12	52145348	52145348	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr12:52145348T>G	ENST00000354534.6	+	14	2519	c.2341T>G	c.(2341-2343)Ttt>Gtt	p.F781V	SCN8A_ENST00000550891.1_Missense_Mutation_p.F781V|SCN8A_ENST00000545061.1_Missense_Mutation_p.F781V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	781					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GACACCACAATTTGAACATGT	0.418																																						dbGAP											0													130.0	122.0	124.0					12																	52145348		2020	4196	6216	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2341T>G	12.37:g.52145348T>G	ENSP00000346534:p.Phe781Val		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F781V	ENST00000354534.6	37	c.2341	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768291	0.90020	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.981;1.0	D;D;D	0.87578	0.991;0.962;0.998	D	0.99316	1.0905	10	0.87932	D	0	.	14.6385	0.68706	0.0:0.0:0.0:1.0	.	781;781;781	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	V	781;781;781;781;694	ENSP00000448415:F781V;ENSP00000346534:F781V;ENSP00000440360:F781V;ENSP00000347255:F781V	ENSP00000346534:F781V	F	+	1	0	SCN8A	50431615	1.000000	0.71417	0.962000	0.40283	0.952000	0.60782	7.868000	0.87116	2.115000	0.64714	0.528000	0.53228	TTT	SCN8A	-	NULL	ENSG00000196876		0.418	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	248	0.00	0	T	NM_014191		52145348	52145348	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	101	56.09	129	SNP	0.998	G
SELP	6403	genome.wustl.edu	37	1	169588391	169588391	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr1:169588391G>A	ENST00000263686.6	-	2	107	c.70C>T	c.(70-72)Ctt>Ttt	p.L24F	SELP_ENST00000367786.2_Missense_Mutation_p.L24F|SELP_ENST00000367792.2_Missense_Mutation_p.L24F|SELP_ENST00000367788.2_Missense_Mutation_p.L24F|SELP_ENST00000458599.2_Missense_Mutation_p.L24F|SELP_ENST00000367791.2_Missense_Mutation_p.L24F|SELP_ENST00000367794.2_Missense_Mutation_p.L24F|SELP_ENST00000367793.2_Missense_Mutation_p.L24F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	24					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CTGAAGCAAAGGAGTTGGGAA	0.403																																						dbGAP											0													93.0	92.0	92.0					1																	169588391		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.70C>T	1.37:g.169588391G>A	ENSP00000263686:p.Leu24Phe		Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.L24F	ENST00000263686.6	37	c.70	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.253007|2.253007	0.39797|0.39797	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T;T|.	0.27720|.	2.15;1.97;1.69;1.65;1.85;1.97;1.69;1.73|.	4.31|4.31	0.271|0.271	0.15640|0.15640	.|.	0.558100|.	0.14990|.	N|.	0.286738|.	T|T	0.21631|0.21631	0.0521|0.0521	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	D;D|.	0.61080|.	0.989;0.989|.	P;P|.	0.55923|.	0.787;0.771|.	T|T	0.34428|0.34428	-0.9829|-0.9829	10|5	0.62326|.	D|.	0.03|.	-6.8692|-6.8692	1.4324|1.4324	0.02336|0.02336	0.1935:0.1674:0.4667:0.1724|0.1935:0.1674:0.4667:0.1724	.|.	24;24|.	Q6NUL9;P16109|.	.;LYAM3_HUMAN|.	F|L	24;24;23;24;24;24;24;24;24;24;24;24;9|23	ENSP00000263686:L24F;ENSP00000356767:L24F;ENSP00000356768:L24F;ENSP00000356766:L24F;ENSP00000356765:L24F;ENSP00000356762:L24F;ENSP00000356760:L24F;ENSP00000399368:L9F|.	ENSP00000263686:L24F|.	L|P	-|-	1|2	0|0	SELP|SELP	167855015|167855015	0.866000|0.866000	0.29940|0.29940	0.123000|0.123000	0.21794|0.21794	0.661000|0.661000	0.39034|0.39034	0.453000|0.453000	0.21811|0.21811	0.059000|0.059000	0.16252|0.16252	0.655000|0.655000	0.94253|0.94253	CTT|CCT	SELP	-	NULL	ENSG00000174175		0.403	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	116	0.00	0	G	NM_003005		169588391	169588391	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	112	32.53	54	SNP	0.235	A
SHANK1	50944	genome.wustl.edu	37	19	51165806	51165806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr19:51165806delC	ENST00000293441.1	-	23	5920	c.5902delG	c.(5902-5904)gccfs	p.A1968fs	SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.A1976fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Frame_Shift_Del_p.A1355fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.A1959fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1968					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTGAGGTGGCCCCTGGGGCC	0.706																																						dbGAP											0													16.0	17.0	17.0					19																	51165806		2159	4227	6386	-	-	-	SO:0001589	frameshift_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5902delG	19.37:g.51165806delC	ENSP00000293441:p.Ala1968fs		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A1976fs	ENST00000293441.1	37	c.5926	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.706	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	19	0.00	0	C	NM_016148		51165806	51165806	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	0.455	-
SLIT1	6585	genome.wustl.edu	37	10	98763830	98763830	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr10:98763830delA	ENST00000266058.4	-	34	4105	c.3860delT	c.(3859-3861)gtgfs	p.V1287fs	SLIT1_ENST00000371070.4_Frame_Shift_Del_p.V1287fs|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1287	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTCACCTCCCACATAGAGTGG	0.582																																						dbGAP											0													165.0	150.0	155.0					10																	98763830		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3860delT	10.37:g.98763830delA	ENSP00000266058:p.Val1287fs		Q5T0V1|Q8WWZ2|Q9UIL7	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1287fs	ENST00000266058.4	37	c.3860	CCDS7453.1	10																																																																																			SLIT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000187122		0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	108	0.00	0	A	NM_003061		98763830	98763830	-1	no_errors	ENST00000266058	ensembl	human	known	69_37n	frame_shift_del	76	36.13	43	DEL	1.000	-
SMYD4	114826	genome.wustl.edu	37	17	1690265	1690266	+	In_Frame_Ins	INS	-	-	TTT			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr17:1690265_1690266insTTT	ENST00000305513.7	-	7	1889_1890	c.1722_1723insAAA	c.(1720-1725)gggcct>gggAAAcct	p.574_575GP>GKP		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	574	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTCTTGTGAGGCCCTGGAGGGA	0.51																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1722_1723insAAA	17.37:g.1690265_1690266insTTT	ENSP00000304360:p.Gly574_Pro575insLys		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	In_Frame_Ins	INS	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.574in_frame_insK	ENST00000305513.7	37	c.1723_1722	CCDS11013.1	17																																																																																			SMYD4	-	pfam_SET_dom,pfscan_SET_dom	ENSG00000186532		0.510	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	52	0.00	0	-	XM_056082		1690265	1690266	-1	no_errors	ENST00000305513	ensembl	human	known	69_37n	in_frame_ins	31	54.41	37	INS	1.000:0.977	TTT
SP140	11262	genome.wustl.edu	37	2	231176276	231176276	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr2:231176276G>A	ENST00000392045.3	+	26	2585	c.2471G>A	c.(2470-2472)cGc>cAc	p.R824H	SP140_ENST00000343805.6_Missense_Mutation_p.R764H|SP140_ENST00000420434.3_Missense_Mutation_p.R797H|SP140_ENST00000417495.3_Missense_Mutation_p.R710H|SP140_ENST00000486687.2_Missense_Mutation_p.R748H|SP140_ENST00000350136.5_Missense_Mutation_p.R693H	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	824	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAGACATGCGCCTCATCTTC	0.502																																						dbGAP											0													31.0	32.0	32.0					2																	231176276		1785	4036	5821	-	-	-	SO:0001583	missense	0			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2471G>A	2.37:g.231176276G>A	ENSP00000375899:p.Arg824His		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.R824H	ENST00000392045.3	37	c.2471	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953835	0.53293	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	2.9	2.02	0.26589	Bromodomain (5);	.	.	.	.	T	0.53417	0.1795	M	0.85373	2.75	0.23661	N	0.997178	P;D;D;D	0.89917	0.91;0.999;1.0;1.0	P;D;D;D	0.72075	0.508;0.912;0.96;0.976	T	0.34750	-0.9816	9	0.87932	D	0	-9.1463	5.8767	0.18832	0.1477:0.0:0.8523:0.0	.	797;710;764;824	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	H	748;693;824;710;764;797	ENSP00000440107:R748H;ENSP00000345846:R693H;ENSP00000375899:R824H;ENSP00000342096:R764H;ENSP00000398210:R797H	ENSP00000342096:R764H	R	+	2	0	SP140	230884520	0.782000	0.28689	0.568000	0.28447	0.974000	0.67602	1.079000	0.30766	0.787000	0.33731	0.563000	0.77884	CGC	SP140	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000079263		0.502	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	213	0.00	0	G	NM_007237		231176276	231176276	+1	no_errors	ENST00000392045	ensembl	human	known	69_37n	missense	47	43.37	36	SNP	0.655	A
TET1	80312	genome.wustl.edu	37	10	70406122	70406122	+	Silent	SNP	A	A	G			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr10:70406122A>G	ENST00000373644.4	+	4	3845	c.3636A>G	c.(3634-3636)aaA>aaG	p.K1212K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1212					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TATTTGGGAAAATTTCTTCCT	0.373																																						dbGAP											0													56.0	57.0	57.0					10																	70406122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3636A>G	10.37:g.70406122A>G			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.K1212	ENST00000373644.4	37	c.3636	CCDS7281.1	10																																																																																			TET1	-	NULL	ENSG00000138336		0.373	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	223	0.00	0	A	NM_030625		70406122	70406122	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	silent	136	29.17	56	SNP	0.912	G
TPH2	121278	genome.wustl.edu	37	12	72388322	72388322	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr12:72388322G>A	ENST00000333850.3	+	8	1186	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	349					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCATCAGATGAAGATGTTCA	0.413																																						dbGAP											0													113.0	110.0	111.0					12																	72388322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1045G>A	12.37:g.72388322G>A	ENSP00000329093:p.Glu349Lys		A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.E349K	ENST00000333850.3	37	c.1045	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640492	0.87859	.	.	ENSG00000139287	ENST00000333850	D	0.99691	-6.42	5.91	5.91	0.95273	Aromatic amino acid hydroxylase, C-terminal (4);	0.049216	0.85682	D	0.000000	D	0.98988	0.9655	L	0.48218	1.51	0.80722	D	1	B	0.11235	0.004	B	0.18561	0.022	D	0.96042	0.9025	10	0.87932	D	0	-12.6931	20.2985	0.98592	0.0:0.0:1.0:0.0	.	349	Q8IWU9	TPH2_HUMAN	K	349	ENSP00000329093:E349K	ENSP00000329093:E349K	E	+	1	0	TPH2	70674589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAA	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	ENSG00000139287		0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	138	0.00	0	G	NM_173353		72388322	72388322	+1	no_errors	ENST00000333850	ensembl	human	known	69_37n	missense	579	22.90	172	SNP	1.000	A
TSNARE1	203062	genome.wustl.edu	37	8	143425597	143425597	+	Missense_Mutation	SNP	G	G	A	rs555325950		TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chr8:143425597G>A	ENST00000307180.3	-	4	592	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R159C|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R159C	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	159					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGTACCTGCGAGTGGGCTCG	0.657																																						dbGAP											0													52.0	53.0	53.0					8																	143425597		2203	4300	6503	-	-	-	SO:0001583	missense	0					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.475C>T	8.37:g.143425597G>A	ENSP00000303437:p.Arg159Cys		B7ZLB0|Q14D03	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R159C	ENST00000307180.3	37	c.475	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870951	0.51695	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.12569	2.67;2.67;2.67	3.92	1.03	0.20045	.	0.000000	0.34676	U	0.003773	T	0.10637	0.0260	L	0.40543	1.245	0.09310	N	1	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.13407	0.009;0.009;0.009	T	0.22208	-1.0223	10	0.87932	D	0	1.3605	7.3688	0.26790	0.3071:0.0:0.6929:0.0	.	159;159;159	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	C	159	ENSP00000428763:R159C;ENSP00000303437:R159C;ENSP00000427770:R159C	ENSP00000303437:R159C	R	-	1	0	TSNARE1	143423504	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	0.106000	0.15354	-0.033000	0.13736	0.609000	0.83330	CGC	TSNARE1	-	NULL	ENSG00000171045		0.657	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	HGNC	protein_coding		46	0.00	0	G	NM_145003		143425597	143425597	-1	no_errors	ENST00000307180	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.017	A
VCX	26609	genome.wustl.edu	37	X	7811259	7811259	+	Silent	SNP	G	G	C	rs140123807		TCGA-BH-A0E2-01A-11W-A071-09	TCGA-BH-A0E2-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2703ce22-3ffa-4094-b3f1-1f573b5204a9	ff7d656e-eef3-42eb-84e8-545536c8aec0	g.chrX:7811259G>C	ENST00000381059.3	+	2	234	c.15G>C	c.(13-15)ccG>ccC	p.P5P	VCX_ENST00000341408.4_Silent_p.P5P	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	5					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCCAAAGCCGAGAGCCTCGG	0.627													-|||	292	0.077351	0.0303	0.0331	3775	,	,		12914	0.0923		0.1163	False		,,,				2504	0.0194					dbGAP											0													29.0	29.0	29.0					X																	7811259		2157	4157	6314	-	-	-	SO:0001819	synonymous_variant	0			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.15G>C	X.37:g.7811259G>C			A0JNS5|Q4V774|Q9P0H3	Silent	SNP	NULL	p.P5	ENST00000381059.3	37	c.15	CCDS14128.1	X																																																																																			VCX	-	NULL	ENSG00000182583		0.627	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX	HGNC	protein_coding	OTTHUMT00000071474.1	35	0.00	0	G	NM_013452		7811259	7811259	+1	no_errors	ENST00000381059	ensembl	human	known	69_37n	silent	23	37.84	14	SNP	0.001	C
