#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABI2	10152	genome.wustl.edu	37	2	204291989	204291989	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr2:204291989G>A	ENST00000422511.2	+	11	1388	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	ABI2_ENST00000430418.1_Missense_Mutation_p.D431N|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.D480N|ABI2_ENST00000261016.6_Missense_Mutation_p.D374N|ABI2_ENST00000295851.5_Missense_Mutation_p.D486N|ABI2_ENST00000261017.5_Missense_Mutation_p.D448N|ABI2_ENST00000261018.7_Missense_Mutation_p.D272N			Q9NYB9	ABI2_HUMAN	abl-interactor 2	486	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GAAGAATGACGATGGTTGGTA	0.418																																						dbGAP											0													194.0	162.0	173.0					2																	204291989		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1357G>A	2.37:g.204291989G>A	ENSP00000396249:p.Asp453Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.D486N	ENST00000422511.2	37	c.1456		2	.	.	.	.	.	.	.	.	.	.	G	36	5.729527	0.96856	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;1.39;0.54;0.54	6.03	6.03	0.97812	Src homology-3 domain (5);	0.083976	0.85682	D	0.000000	T	0.71256	0.3318	L	0.54908	1.71	0.80722	D	1	D;D;D;P;D;D;P;D;D	0.89917	1.0;1.0;0.976;0.941;0.999;0.999;0.619;0.999;1.0	D;D;P;P;D;D;B;D;D	0.97110	1.0;1.0;0.874;0.766;0.988;0.994;0.146;0.993;0.989	T	0.70894	-0.4748	10	0.87932	D	0	-21.0356	20.5568	0.99304	0.0:0.0:1.0:0.0	.	299;350;211;363;480;431;374;486;448	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;.;.;.;ABI2_HUMAN;.	N	486;448;431;480;374;486;453;272	ENSP00000295851:D486N;ENSP00000261017:D448N;ENSP00000408898:D431N;ENSP00000391433:D480N;ENSP00000261016:D374N;ENSP00000414703:D486N;ENSP00000396249:D453N;ENSP00000261018:D272N	ENSP00000261016:D374N	D	+	1	0	ABI2	204000234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	GAT	ABI2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000138443		0.418	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	72	0.00	0	G	NM_005759		204291989	204291989	+1	no_errors	ENST00000295851	ensembl	human	known	69_37n	missense	8	90.24	74	SNP	1.000	A
AP1B1	162	genome.wustl.edu	37	22	29727809	29727809	+	Silent	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr22:29727809C>T	ENST00000405198.1	-	17	2437	c.2406G>A	c.(2404-2406)tcG>tcA	p.S802S	AP1B1_ENST00000357586.2_Silent_p.S802S|AP1B1_ENST00000432560.2_Silent_p.S795S|AP1B1_ENST00000356015.2_Silent_p.S795S|AP1B1_ENST00000317368.7_Silent_p.S775S|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000415447.1_Silent_p.S795S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.S795S			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	802					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTTCATGACCGAGCCCACCG	0.672																																						dbGAP											0													69.0	64.0	66.0					22																	29727809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2406G>A	22.37:g.29727809C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.S802	ENST00000405198.1	37	c.2406	CCDS13855.1	22																																																																																			AP1B1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig	ENSG00000100280		0.672	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	49	0.00	0	C	NM_001127		29727809	29727809	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	silent	19	36.67	11	SNP	0.162	T
ARHGAP33	115703	genome.wustl.edu	37	19	36269498	36269498	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr19:36269498G>T	ENST00000007510.4	+	5	547	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A135S|ARHGAP33_ENST00000221905.1_3'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	135	PX; atypical.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TGCCAGGGCTGCCCAGGTAAC	0.562																																						dbGAP											0													37.0	37.0	37.0					19																	36269498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.403G>T	19.37:g.36269498G>T	ENSP00000007510:p.Ala135Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A135S	ENST00000007510.4	37	c.403		19	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561409	0.27915	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T;T	0.30714	1.52;1.52;1.52	4.25	4.25	0.50352	.	0.443753	0.20208	N	0.096960	T	0.28928	0.0718	N	0.17082	0.46	0.31290	N	0.689583	D;D	0.54964	0.969;0.969	P;P	0.55011	0.766;0.611	T	0.05666	-1.0871	10	0.33940	T	0.23	.	10.4653	0.44604	0.0:0.1973:0.8027:0.0	.	153;135	O14559-12;O14559-11	.;.	S	135;135;153	ENSP00000007510:A135S;ENSP00000320038:A135S;ENSP00000221905:A153S	ENSP00000007510:A135S	A	+	1	0	ARHGAP33	40961338	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.314000	0.51943	2.643000	0.89663	0.655000	0.94253	GCC	ARHGAP33	-	superfamily_Phox	ENSG00000004777		0.562	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		25	0.00	0	G	NM_052948		36269498	36269498	+1	no_errors	ENST00000007510	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	T
C3orf20	84077	genome.wustl.edu	37	3	14769950	14769950	+	Silent	SNP	G	G	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr3:14769950G>T	ENST00000253697.3	+	12	2147	c.1695G>T	c.(1693-1695)ctG>ctT	p.L565L	C3orf20_ENST00000435614.1_Silent_p.L443L|C3orf20_ENST00000412910.1_Silent_p.L443L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	565						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TAACAGGTCTGTTTACCATTG	0.483																																						dbGAP											0													70.0	73.0	72.0					3																	14769950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1695G>T	3.37:g.14769950G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.L565	ENST00000253697.3	37	c.1695	CCDS33706.1	3																																																																																			C3orf20	-	NULL	ENSG00000131379		0.483	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	37	0.00	0	G	NM_032137		14769950	14769950	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.889	T
CCDC13	152206	genome.wustl.edu	37	3	42754739	42754739	+	Silent	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr3:42754739C>T	ENST00000310232.6	-	14	1871	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	596										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTCCAGCACCACGGTGCGGT	0.602																																						dbGAP											0													120.0	109.0	113.0					3																	42754739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1788G>A	3.37:g.42754739C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Prefoldin	p.V596	ENST00000310232.6	37	c.1788	CCDS2705.1	3																																																																																			CCDC13	-	NULL	ENSG00000244607		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	30	0.00	0	C	NM_144719		42754739	42754739	-1	no_errors	ENST00000310232	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.856	T
CNGB1	1258	genome.wustl.edu	37	16	57921789	57921789	+	Silent	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr16:57921789C>T	ENST00000251102.8	-	32	3492	c.3432G>A	c.(3430-3432)gcG>gcA	p.A1144A	CNGB1_ENST00000564448.1_Silent_p.A1138A	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1144					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.A1144A(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCTTTGCAGCCGCCTCCAGCG	0.587																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											1	Substitution - coding silent(1)	breast(1)											78.0	82.0	81.0					16																	57921789		1887	4111	5998	-	-	-	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3432G>A	16.37:g.57921789C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A1144	ENST00000251102.8	37	c.3432	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.587	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	52	0.00	0	C	NM_001297		57921789	57921789	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	silent	15	58.97	23	SNP	0.035	T
CUL4A	8451	genome.wustl.edu	37	13	113898800	113898800	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr13:113898800G>C	ENST00000375440.4	+	12	1389	c.1305G>C	c.(1303-1305)aaG>aaC	p.K435N	CUL4A_ENST00000375441.3_Missense_Mutation_p.K335N|CUL4A_ENST00000326335.4_Missense_Mutation_p.K335N|CUL4A_ENST00000451881.1_Missense_Mutation_p.K335N	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	435					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGTTGGACAAGATCATGATCC	0.473																																						dbGAP											0													81.0	66.0	71.0					13																	113898800		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1305G>C	13.37:g.113898800G>C	ENSP00000364589:p.Lys435Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K435N	ENST00000375440.4	37	c.1305	CCDS41908.1	13	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609396	0.66558	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.77	-2.12	0.07165	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.73931	0.3650	M	0.81802	2.56	0.80722	D	1	B;B	0.32467	0.372;0.372	B;B	0.38327	0.271;0.271	T	0.71347	-0.4620	10	0.87932	D	0	-42.0252	11.0551	0.47913	0.7811:0.0:0.2189:0.0	.	435;435	Q13619;A8MSH7	CUL4A_HUMAN;.	N	335;335;335;435	ENSP00000364590:K335N;ENSP00000389118:K335N;ENSP00000322132:K335N;ENSP00000364589:K435N	ENSP00000322132:K335N	K	+	3	2	CUL4A	112946801	1.000000	0.71417	0.978000	0.43139	0.928000	0.56348	1.087000	0.30865	-0.390000	0.07774	0.484000	0.47621	AAG	CUL4A	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000139842		0.473	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	54	0.00	0	G	NM_003589		113898800	113898800	+1	no_errors	ENST00000375440	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	1.000	C
CYP2A13	1553	genome.wustl.edu	37	19	41596463	41596463	+	Silent	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr19:41596463G>A	ENST00000330436.3	+	4	648	c.648G>A	c.(646-648)acG>acA	p.T216T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	216					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAACCTCCACGGGGCAGGTAA	0.602																																						dbGAP											0													88.0	81.0	83.0					19																	41596463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.648G>A	19.37:g.41596463G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.T216	ENST00000330436.3	37	c.648	CCDS12571.1	19																																																																																			CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.602	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	36	0.00	0	G	NM_000766		41596463	41596463	+1	no_errors	ENST00000330436	ensembl	human	known	69_37n	silent	18	25.00	6	SNP	0.037	A
DLC1	10395	genome.wustl.edu	37	8	13356703	13356703	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr8:13356703C>T	ENST00000276297.4	-	2	1287	c.878G>A	c.(877-879)gGc>gAc	p.G293D	DLC1_ENST00000316609.5_Missense_Mutation_p.G293D|DLC1_ENST00000511869.1_Missense_Mutation_p.G293D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	293					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTCTCCAGGCCATTTTCAGC	0.458																																						dbGAP											0													179.0	173.0	175.0					8																	13356703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.878G>A	8.37:g.13356703C>T	ENSP00000276297:p.Gly293Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.G293D	ENST00000276297.4	37	c.878	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	1.767	-0.485320	0.04352	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.13901	3.44;2.55;2.57	4.97	0.832	0.18867	.	0.366960	0.19995	N	0.101472	T	0.05823	0.0152	N	0.17474	0.49	0.23277	N	0.997997	B;B;B	0.27140	0.169;0.099;0.001	B;B;B	0.28553	0.091;0.041;0.002	T	0.36089	-0.9762	10	0.13470	T	0.59	.	2.5275	0.04695	0.131:0.5234:0.1275:0.2181	.	293;293;293	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	D	293	ENSP00000276297:G293D;ENSP00000321034:G293D;ENSP00000425878:G293D	ENSP00000276297:G293D	G	-	2	0	DLC1	13401074	0.979000	0.34478	0.996000	0.52242	0.001000	0.01503	0.902000	0.28459	0.359000	0.24239	-0.182000	0.12963	GGC	DLC1	-	NULL	ENSG00000164741		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	117	0.00	0	C	NM_182643, NM_006094		13356703	13356703	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	15	83.33	75	SNP	0.977	T
DOCK3	1795	genome.wustl.edu	37	3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	451	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433																																						dbGAP											0													165.0	162.0	163.0					3																	51263178		1892	4125	6017	-	-	-	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1351C>A	3.37:g.51263178C>A	ENSP00000266037:p.Leu451Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L451I	ENST00000266037.9	37	c.1351	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806972	0.90623	.	.	ENSG00000088538	ENST00000266037	T	0.14640	2.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.00948	-1.1504	10	0.22109	T	0.4	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	451	Q8IZD9	DOCK3_HUMAN	I	451	ENSP00000266037:L451I	ENSP00000266037:L451I	L	+	1	0	DOCK3	51238218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.694000	0.68272	2.733000	0.93635	0.655000	0.94253	CTT	DOCK3	-	NULL	ENSG00000088538		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	82	0.00	0	C	NM_004947		51263178	51263178	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	missense	58	27.50	22	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152192762	152192762	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:152192762C>T	ENST00000368801.2	-	3	1418	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	448					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R448Q(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGATCGACCAAAGCC	0.582																																						dbGAP											1	Substitution - Missense(1)	skin(1)											128.0	130.0	129.0					1																	152192762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1343G>A	1.37:g.152192762C>T	ENSP00000357791:p.Arg448Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R448Q	ENST00000368801.2	37	c.1343	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	6.856	0.527176	0.13066	.	.	ENSG00000197915	ENST00000368801	T	0.01474	4.85	2.91	0.369	0.16151	.	.	.	.	.	T	0.00178	0.0005	N	0.01576	-0.805	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.38265	-0.9669	9	0.02654	T	1	.	2.4109	0.04424	0.2375:0.1439:0.0:0.6186	.	448	Q86YZ3	HORN_HUMAN	Q	448	ENSP00000357791:R448Q	ENSP00000357791:R448Q	R	-	2	0	HRNR	150459386	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.588000	0.05774	-0.042000	0.13535	-1.405000	0.01134	CGA	HRNR	-	NULL	ENSG00000197915		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	75	0.00	0	C	XM_373868		152192762	152192762	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	67	20.24	17	SNP	0.003	T
HRNR	388697	genome.wustl.edu	37	1	152193765	152193765	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:152193765C>T	ENST00000368801.2	-	3	415	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	114					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCAGTTTCTTCTTGTTCC	0.433																																						dbGAP											0													257.0	194.0	215.0					1																	152193765		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.340G>A	1.37:g.152193765C>T	ENSP00000357791:p.Glu114Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E114K	ENST00000368801.2	37	c.340	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	8.863	0.947345	0.18356	.	.	ENSG00000197915	ENST00000368801	T	0.01584	4.75	5.11	2.19	0.27852	.	.	.	.	.	T	0.00468	0.0015	L	0.31526	0.94	0.21802	N	0.999531	P	0.38473	0.633	B	0.33799	0.17	T	0.44452	-0.9327	9	0.16420	T	0.52	.	7.7042	0.28640	0.0:0.7348:0.0:0.2652	.	114	Q86YZ3	HORN_HUMAN	K	114	ENSP00000357791:E114K	ENSP00000357791:E114K	E	-	1	0	HRNR	150460389	0.307000	0.24500	0.310000	0.25168	0.012000	0.07955	0.393000	0.20817	0.407000	0.25591	0.637000	0.83480	GAA	HRNR	-	NULL	ENSG00000197915		0.433	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	124	0.00	0	C	XM_373868		152193765	152193765	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	146	19.34	35	SNP	0.642	T
FLG	2312	genome.wustl.edu	37	1	152278000	152278000	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:152278000C>A	ENST00000368799.1	-	3	9397	c.9362G>T	c.(9361-9363)aGg>aTg	p.R3121M	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3121	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTACCCCTGCCTTCCTCCTCT	0.607									Ichthyosis																													dbGAP											0													94.0	135.0	122.0					1																	152278000		2184	4284	6468	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9362G>T	1.37:g.152278000C>A	ENSP00000357789:p.Arg3121Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R3121M	ENST00000368799.1	37	c.9362	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225260	0.22457	.	.	ENSG00000143631	ENST00000368799	T	0.04406	3.63	3.66	1.65	0.23941	.	.	.	.	.	T	0.07818	0.0196	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.70716	0.97	T	0.14839	-1.0458	9	0.48119	T	0.1	.	4.9704	0.14113	0.0:0.6549:0.2181:0.127	.	3121	P20930	FILA_HUMAN	M	3121	ENSP00000357789:R3121M	ENSP00000357789:R3121M	R	-	2	0	FLG	150544624	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	0.233000	0.17911	0.134000	0.18681	0.449000	0.29647	AGG	FLG	-	NULL	ENSG00000143631		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	94	0.00	0	C	NM_002016		152278000	152278000	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	91	14.15	15	SNP	0.001	A
KCNJ4	3761	genome.wustl.edu	37	22	38823442	38823442	+	Silent	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr22:38823442G>A	ENST00000303592.3	-	2	954	c.696C>T	c.(694-696)ggC>ggT	p.G232G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	232					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCAGGTACTCGCCCTCCTGGG	0.632																																						dbGAP											0													66.0	61.0	62.0					22																	38823442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.696C>T	22.37:g.38823442G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D44	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.3	p.G232	ENST00000303592.3	37	c.696	CCDS13971.1	22																																																																																			KCNJ4	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000168135		0.632	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	20	0.00	0	G	NM_004981		38823442	38823442	-1	no_errors	ENST00000303592	ensembl	human	known	69_37n	silent	13	33.33	7	SNP	0.130	A
KIAA0319	9856	genome.wustl.edu	37	6	24581158	24581158	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr6:24581158C>A	ENST00000378214.3	-	7	1799	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	KIAA0319_ENST00000535378.1_Missense_Mutation_p.K416N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.K380N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.K425N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.K425N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	425	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCTTACCAGGCTTAACAGTGA	0.398											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													159.0	154.0	156.0					6																	24581158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1275G>T	6.37:g.24581158C>A	ENSP00000367459:p.Lys425Asn	Somatic	772	WXS	Illumina GAIIx	Phase_IV	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.K425N	ENST00000378214.3	37	c.1275	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558611	0.45590	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08193	3.12;3.12;3.12;3.13;3.13	4.53	2.62	0.31277	PKD/Chitinase domain (1);	0.894418	0.09628	N	0.776625	T	0.02156	0.0067	L	0.28740	0.885	0.29687	N	0.841228	P;P;P	0.39535	0.677;0.677;0.538	B;B;B	0.41440	0.31;0.243;0.357	T	0.45659	-0.9246	10	0.33940	T	0.23	-3.972	1.4869	0.02449	0.1875:0.4523:0.1838:0.1763	.	425;416;425	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	425;416;380;425;425	ENSP00000439700:K425N;ENSP00000442403:K416N;ENSP00000401086:K380N;ENSP00000367459:K425N;ENSP00000437656:K425N	ENSP00000367459:K425N	K	-	3	2	KIAA0319	24689137	1.000000	0.71417	0.956000	0.39512	0.963000	0.63663	0.916000	0.28651	1.049000	0.40321	0.655000	0.94253	AAG	KIAA0319	-	pfam_PKD/REJ-like,smart_PKD/Chitinase_dom	ENSG00000137261		0.398	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	68	0.00	0	C	NM_014809		24581158	24581158	-1	no_errors	ENST00000378214	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	0.999	A
KLK14	43847	genome.wustl.edu	37	19	51584934	51584934	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr19:51584934T>C	ENST00000156499.2	-	4	333	c.115A>G	c.(115-117)Aac>Gac	p.N39D	KLK14_ENST00000391802.1_Missense_Mutation_p.N39D			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	39					epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		ATTATCTTGTTCTCATCCTCT	0.597																																					GBM(117;2161 2172 2448 22911)	dbGAP											0													36.0	37.0	36.0					19																	51584934		2005	4139	6144	-	-	-	SO:0001583	missense	0			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.115A>G	19.37:g.51584934T>C	ENSP00000156499:p.Asn39Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.N39D	ENST00000156499.2	37	c.115	CCDS12823.2	19	.	.	.	.	.	.	.	.	.	.	.	11.76	1.733272	0.30684	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.92699	-3.09;-3.09	4.79	-2.8	0.05823	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74015	0.3661	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.65438	-0.6168	9	0.02654	T	1	.	1.5196	0.02513	0.1472:0.3426:0.2666:0.2437	.	39	Q9P0G3	KLK14_HUMAN	D	39	ENSP00000156499:N39D;ENSP00000375678:N39D	ENSP00000156499:N39D	N	-	1	0	KLK14	56276746	0.857000	0.29778	0.023000	0.16930	0.989000	0.77384	1.461000	0.35255	-0.458000	0.07023	0.473000	0.43528	AAC	KLK14	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000129437		0.597	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK14	HGNC	protein_coding	OTTHUMT00000289774.2	28	0.00	0	T	NM_022046		51584934	51584934	-1	no_errors	ENST00000156499	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	0.323	C
MACF1	23499	genome.wustl.edu	37	1	39908479	39908479	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:39908479G>A	ENST00000372915.3	+	77	18982	c.18895G>A	c.(18895-18897)Gcc>Acc	p.A6299T	MACF1_ENST00000564288.1_Missense_Mutation_p.A6400T|MACF1_ENST00000317713.7_Missense_Mutation_p.A4341T|MACF1_ENST00000545844.1_Missense_Mutation_p.A4341T|MACF1_ENST00000289893.4_Missense_Mutation_p.A4843T|MACF1_ENST00000361689.2_Missense_Mutation_p.A4341T|MACF1_ENST00000539005.1_Missense_Mutation_p.A4211T|MACF1_ENST00000567887.1_Missense_Mutation_p.A6437T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6299					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGATGATGCCAGCAGCTT	0.473																																						dbGAP											0													63.0	55.0	58.0					1																	39908479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18895G>A	1.37:g.39908479G>A	ENSP00000362006:p.Ala6299Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.A4341T	ENST00000372915.3	37	c.13021		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.933400|4.933400	0.92458|0.92458	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.73628|0.73628	0.3611|0.3611	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76071|.	0.987;0.976|.	T|T	0.69083|0.69083	-0.5239|-0.5239	10|5	0.87932|.	D|.	0|.	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6299;4341|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	T|Y	4341;6299;4341;4341;4211;4843|3344	ENSP00000439537:A4341T;ENSP00000362006:A6299T;ENSP00000354573:A4341T;ENSP00000313438:A4341T;ENSP00000444364:A4211T;ENSP00000289893:A4843T|.	ENSP00000289893:A4843T|.	A|C	+|+	1|2	0|0	MACF1|MACF1	39681066|39681066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.611000|7.611000	0.82962|0.82962	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GCC|TGC	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	32	0.00	0	G	NM_033044		39908479	39908479	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	A
MED25	81857	genome.wustl.edu	37	19	50333407	50333407	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr19:50333407G>A	ENST00000312865.6	+	7	804	c.751G>A	c.(751-753)Gca>Aca	p.A251T	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	251	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCTCCCGCCGCACCCTCAGG	0.667																																					GBM(51;894 1657 37868)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.751G>A	19.37:g.50333407G>A	ENSP00000326767:p.Ala251Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.A251T	ENST00000312865.6	37	c.751	CCDS33075.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.935|6.935	0.542277|0.542277	0.13250|0.13250	.|.	.|.	ENSG00000104973|ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221|ENST00000544580	T|.	0.79033|.	-1.23|.	4.98|4.98	-5.94|-5.94	0.02247|0.02247	Mediator complex, subunit Med25, synapsin 1 (1);|.	0.974806|.	0.08420|.	N|.	0.948457|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.14661|0.14661	0.345|0.345	0.29539|0.29539	N|N	0.852224|0.852224	B;B|.	0.28820|.	0.224;0.127|.	B;B|.	0.22753|.	0.041;0.041|.	T|T	0.45234|0.45234	-0.9275|-0.9275	10|6	0.35671|0.66056	T|D	0.21|0.02	.|.	8.6723|8.6723	0.34159|0.34159	0.1749:0.1475:0.6083:0.0692|0.1749:0.1475:0.6083:0.0692	.|.	251;251|.	B5ME50;Q71SY5|.	.;MED25_HUMAN|.	T|H	251|250	ENSP00000326767:A251T|.	ENSP00000326767:A251T|ENSP00000444765:R250H	A|R	+|+	1|2	0|0	MED25|MED25	55025219|55025219	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.484000|0.484000	0.33280|0.33280	-2.459000|-2.459000	0.01000|0.01000	-0.832000|-0.832000	0.04251|0.04251	-0.713000|-0.713000	0.03633|0.03633	GCA|CGC	MED25	-	pfam_Mediator_Med25_SD1	ENSG00000104973		0.667	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	17	0.00	0	G	NM_030973		50333407	50333407	+1	no_errors	ENST00000312865	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.000	A
MTM1	4534	genome.wustl.edu	37	X	149783132	149783132	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chrX:149783132G>T	ENST00000370396.2	+	5	356	c.302G>T	c.(301-303)aGt>aTt	p.S101I	MTM1_ENST00000542741.1_Missense_Mutation_p.S6I|MTM1_ENST00000306167.7_Intron|MTM1_ENST00000413012.2_Intron|MTM1_ENST00000543350.1_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	101					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCGACAAGTAGAGGAGAA	0.368																																						dbGAP											0													94.0	84.0	88.0					X																	149783132		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.302G>T	X.37:g.149783132G>T	ENSP00000359423:p.Ser101Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.S101I	ENST00000370396.2	37	c.302	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428935	0.83667	.	.	ENSG00000171100	ENST00000370396;ENST00000542741	D;D	0.84370	-1.84;-1.84	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	M	0.89715	3.055	0.80722	D	1	D	0.56521	0.976	P	0.47376	0.545	D	0.90516	0.4485	10	0.87932	D	0	.	12.3478	0.55130	0.0862:0.0:0.9138:0.0	.	101	Q13496	MTM1_HUMAN	I	101;6	ENSP00000359423:S101I;ENSP00000444015:S6I	ENSP00000359423:S101I	S	+	2	0	MTM1	149533790	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.372000	0.90127	1.122000	0.41944	0.544000	0.68410	AGT	MTM1	-	NULL	ENSG00000171100		0.368	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	72	0.00	0	G	NM_000252		149783132	149783132	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9058138	9058138	+	Missense_Mutation	SNP	C	C	T	rs190716296		TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr19:9058138C>T	ENST00000397910.4	-	3	29511	c.29308G>A	c.(29308-29310)Gaa>Aaa	p.E9770K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9772	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAACACTTCTGTAGTCTTC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21758	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													61.0	58.0	59.0					19																	9058138		1910	4129	6039	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29308G>A	19.37:g.9058138C>T	ENSP00000381008:p.Glu9770Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E9770K	ENST00000397910.4	37	c.29308	CCDS54212.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	9.105	1.005204	0.19199	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.81	-2.5	0.06384	.	.	.	.	.	T	0.10981	0.0268	N	0.14661	0.345	.	.	.	P	0.34977	0.478	B	0.38020	0.263	T	0.27706	-1.0066	8	0.87932	D	0	.	3.4561	0.07516	0.0:0.3141:0.2125:0.4734	.	9770	B5ME49	.	K	9770	ENSP00000381008:E9770K	ENSP00000381008:E9770K	E	-	1	0	MUC16	8919138	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.398000	0.07259	-0.445000	0.07159	0.557000	0.71058	GAA	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	70	0.00	0	C	NM_024690		9058138	9058138	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.000	T
MVP	9961	genome.wustl.edu	37	16	29851675	29851675	+	Silent	SNP	C	C	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr16:29851675C>A	ENST00000357402.5	+	8	1224	c.1086C>A	c.(1084-1086)ccC>ccA	p.P362P	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Silent_p.P362P	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	362					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCCGCGGACCCCTGGAGTATG	0.637																																						dbGAP											0													29.0	25.0	26.0					16																	29851675		2196	4300	6496	-	-	-	SO:0001819	synonymous_variant	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1086C>A	16.37:g.29851675C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.P362	ENST00000357402.5	37	c.1086	CCDS10656.1	16																																																																																			MVP	-	pfam_Vault_N	ENSG00000013364		0.637	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	23	0.00	0	C	NM_005115		29851675	29851675	+1	no_errors	ENST00000357402	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	1.000	A
LINC01317	104355287	genome.wustl.edu	37	2	33952673	33952673	+	lincRNA	SNP	C	C	T	rs576124957		TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr2:33952673C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GGCGTGGTCGCGGGAACGGCC	0.642																																						dbGAP											0																																										-	-	-			0																															2.37:g.33952673C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.642	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	12	0.00	0	C			33952673	33952673	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	17	26.09	6	SNP	0.964	T
MYLK	4638	genome.wustl.edu	37	3	123451949	123451949	+	Splice_Site	SNP	A	A	C	rs559196267		TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr3:123451949A>C	ENST00000475616.1	-	8	1309	c.1310T>G	c.(1309-1311)gTt>gGt	p.V437G	MYLK_ENST00000360772.3_Splice_Site_p.V437G|MYLK_ENST00000359169.1_Splice_Site_p.V437G|MYLK_ENST00000360304.3_Splice_Site_p.V437G|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	437	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AATCCCGGAAACTACAGGGCC	0.567																																						dbGAP											0													36.0	34.0	35.0					3																	123451949		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1310-1T>G	3.37:g.123451949A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V437G	ENST00000475616.1	37	c.1310	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514645	0.64634	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.3	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88262	0.6389	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.90610	0.4551	9	0.87932	D	0	.	14.3625	0.66782	1.0:0.0:0.0:0.0	.	437;437;437	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	G	437	ENSP00000354004:V437G;ENSP00000353452:V437G;ENSP00000352088:V437G;ENSP00000418335:V437G	ENSP00000352088:V437G	V	-	2	0	MYLK	124934639	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	6.185000	0.72013	2.230000	0.72887	0.533000	0.62120	GTT	MYLK	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000065534		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	22	0.00	0	A	NM_053025	Missense_Mutation	123451949	123451949	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	C
NLRP3	114548	genome.wustl.edu	37	1	247587581	247587581	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:247587581G>T	ENST00000336119.3	+	3	1582	c.836G>T	c.(835-837)tGc>tTc	p.C279F	NLRP3_ENST00000348069.2_Missense_Mutation_p.C279F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.C279F|NLRP3_ENST00000391827.2_Missense_Mutation_p.C279F|NLRP3_ENST00000391828.3_Missense_Mutation_p.C279F|NLRP3_ENST00000366497.2_Missense_Mutation_p.C279F	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	279	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCATGAGCTGCTGCCCCGAC	0.542																																						dbGAP											0													69.0	70.0	69.0					1																	247587581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.836G>T	1.37:g.247587581G>T	ENSP00000337383:p.Cys279Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C279F	ENST00000336119.3	37	c.836	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	5.144	0.212158	0.09757	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	4.04	4.04	0.47022	NACHT nucleoside triphosphatase (1);	0.000000	0.56097	D	0.000027	T	0.81664	0.4870	L	0.45744	1.44	0.42474	D	0.992836	B;B;D;D;D	0.65815	0.126;0.257;0.995;0.957;0.965	B;B;D;P;P	0.69654	0.103;0.13;0.965;0.841;0.908	T	0.78866	-0.2035	10	0.31617	T	0.26	.	11.9927	0.53184	0.0:0.0:1.0:0.0	.	279;279;279;279;279	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	F	279	ENSP00000375704:C279F;ENSP00000355453:C279F;ENSP00000337383:C279F;ENSP00000294752:C279F;ENSP00000355452:C279F;ENSP00000375703:C279F	ENSP00000337383:C279F	C	+	2	0	NLRP3	245654204	0.996000	0.38824	1.000000	0.80357	0.041000	0.13682	2.540000	0.45727	2.543000	0.85770	0.563000	0.77884	TGC	NLRP3	-	pfscan_NACHT_NTPase	ENSG00000162711		0.542	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	23	0.00	0	G	NM_004895		247587581	247587581	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	1.000	T
HABP2	3026	genome.wustl.edu	37	10	115351979	115351979	+	IGR	DEL	G	G	-			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr10:115351979delG	ENST00000351270.3	+	0	3009				NRAP_ENST00000360478.3_Frame_Shift_Del_p.R1505fs|NRAP_ENST00000369360.3_Frame_Shift_Del_p.R1513fs|NRAP_ENST00000359988.3_Frame_Shift_Del_p.R1540fs|NRAP_ENST00000369358.4_Frame_Shift_Del_p.R1548fs	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CTAGATGCCCGGGCAGTCTGG	0.507																																						dbGAP											0													75.0	74.0	74.0					10																	115351979		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115351979delG		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K467|B7Z8U5|F5H5M6|O00663	Frame_Shift_Del	DEL	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.R1548fs	ENST00000351270.3	37	c.4642	CCDS7577.1	10																																																																																			NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000197893		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050428.1	59	0.00	0	G	NM_004132		115351979	115351979	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
OR6K3	391114	genome.wustl.edu	37	1	158687927	158687927	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:158687927delA	ENST00000368146.1	-	1	26	c.27delT	c.(25-27)tttfs	p.F9fs	OR6K3_ENST00000368145.1_5'Flank			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGCTACCTGTAAATGGAGAGG	0.408																																						dbGAP											0													42.0	40.0	41.0					1																	158687927		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.27delT	1.37:g.158687927delA	ENSP00000357128:p.Phe9fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUV0|Q6IFR5	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F9fs	ENST00000368146.1	37	c.27		1																																																																																			OR6K3	-	NULL	ENSG00000203757		0.408	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		11	0.00	0	A			158687927	158687927	-1	no_errors	ENST00000368146	ensembl	human	known	69_37n	frame_shift_del	13	48.00	12	DEL	0.531	-
OSBPL8	114882	genome.wustl.edu	37	12	76791544	76791544	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr12:76791544C>T	ENST00000261183.3	-	8	1081	c.602G>A	c.(601-603)cGt>cAt	p.R201H	OSBPL8_ENST00000393249.2_Missense_Mutation_p.R159H|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R159H	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	201	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTTGATGGACGTTCAATGAT	0.408																																						dbGAP											0													127.0	109.0	115.0					12																	76791544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.602G>A	12.37:g.76791544C>T	ENSP00000261183:p.Arg201His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R201H	ENST00000261183.3	37	c.602	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.096943	0.94197	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.75938	-0.98;2.73;-0.98;2.73;-0.98	5.64	4.75	0.60458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.87753	0.2593	10	0.87932	D	0	-12.0	14.5689	0.68200	0.0:0.93:0.0:0.07	.	176;201	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	H	159;201;186;159;201;201;176	ENSP00000376939:R159H;ENSP00000261183:R201H;ENSP00000376940:R159H;ENSP00000450238:R201H;ENSP00000447893:R176H	ENSP00000261183:R201H	R	-	2	0	OSBPL8	75315675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.390000	0.46547	0.650000	0.86243	CGT	OSBPL8	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000091039		0.408	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	74	0.00	0	C	NM_020841		76791544	76791544	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	missense	66	26.37	24	SNP	1.000	T
PLA2G4D	283748	genome.wustl.edu	37	15	42374520	42374520	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr15:42374520delA	ENST00000290472.3	-	9	834	c.740delT	c.(739-741)ttgfs	p.L247fs		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	247					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCCAATGGTCAAGGGCCTCAG	0.502																																						dbGAP											0													131.0	108.0	116.0					15																	42374520		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.740delT	15.37:g.42374520delA	ENSP00000290472:p.Leu247fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N176	Frame_Shift_Del	DEL	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L247fs	ENST00000290472.3	37	c.740	CCDS32203.1	15																																																																																			PLA2G4D	-	NULL	ENSG00000159337		0.502	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	58	0.00	0	A	NM_178034		42374520	42374520	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.183	-
PPRC1	23082	genome.wustl.edu	37	10	103897671	103897671	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr10:103897671T>A	ENST00000278070.2	+	2	257	c.218T>A	c.(217-219)cTg>cAg	p.L73Q	PPRC1_ENST00000413464.2_Missense_Mutation_p.L73Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGCCCATCTCTGAGGGACAAG	0.557																																						dbGAP											0													94.0	82.0	86.0					10																	103897671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.218T>A	10.37:g.103897671T>A	ENSP00000278070:p.Leu73Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L73Q	ENST00000278070.2	37	c.218	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714027	0.48622	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.59083	0.29;0.29	5.19	4.06	0.47325	.	0.218004	0.29165	N	0.012955	T	0.54967	0.1891	N	0.19112	0.55	0.18873	N	0.999981	D;D	0.64830	0.994;0.994	P;P	0.60789	0.879;0.879	T	0.45991	-0.9223	10	0.87932	D	0	.	8.3342	0.32204	0.0:0.0909:0.0:0.9091	.	73;73	E7EVG6;Q5VV67	.;PPRC1_HUMAN	Q	73	ENSP00000278070:L73Q;ENSP00000399743:L73Q	ENSP00000278070:L73Q	L	+	2	0	PPRC1	103887661	0.974000	0.33945	0.975000	0.42487	0.972000	0.66771	3.172000	0.50832	2.110000	0.64415	0.454000	0.30748	CTG	PPRC1	-	NULL	ENSG00000148840		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	58	0.00	0	T	NM_015062		103897671	103897671	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	0.509	A
PRELP	5549	genome.wustl.edu	37	1	203452389	203452389	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr1:203452389C>A	ENST00000343110.2	+	2	204	c.77C>A	c.(76-78)cCa>cAa	p.P26Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	26					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAAGACGACCAAGACCCGGG	0.647																																						dbGAP											0													52.0	59.0	56.0					1																	203452389		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.77C>A	1.37:g.203452389C>A	ENSP00000343924:p.Pro26Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P26Q	ENST00000343110.2	37	c.77	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885456	0.17540	.	.	ENSG00000188783	ENST00000343110	T	0.43294	0.95	5.09	1.94	0.25998	.	5.401910	0.00678	N	0.000679	T	0.25121	0.0610	N	0.08118	0	0.21579	N	0.99964	B	0.06786	0.001	B	0.08055	0.003	T	0.19418	-1.0306	10	0.15066	T	0.55	0.1017	8.1036	0.30872	0.4503:0.4022:0.1475:0.0	.	26	P51888	PRELP_HUMAN	Q	26	ENSP00000343924:P26Q	ENSP00000343924:P26Q	P	+	2	0	PRELP	201719012	0.006000	0.16342	0.277000	0.24703	0.588000	0.36517	-0.537000	0.06128	0.104000	0.17725	0.462000	0.41574	CCA	PRELP	-	NULL	ENSG00000188783		0.647	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	24	0.00	0	C	NM_002725		203452389	203452389	+1	no_errors	ENST00000343110	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	0.143	A
RAD1	5810	genome.wustl.edu	37	5	34909405	34909405	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr5:34909405T>C	ENST00000382038.2	-	5	2042	c.623A>G	c.(622-624)gAt>gGt	p.D208G	RAD1_ENST00000341754.4_Missense_Mutation_p.D208G	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	208					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTCCATCAAATCAGAATCTTT	0.343								Other conserved DNA damage response genes																														dbGAP											0													71.0	71.0	71.0					5																	34909405		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.623A>G	5.37:g.34909405T>C	ENSP00000371469:p.Asp208Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	pfam_Rad1_Rec1_Rad17,prints_Rad1_Rec1_Rad17,prints_Rad1_repair	p.D208G	ENST00000382038.2	37	c.623	CCDS3905.1	5	.	.	.	.	.	.	.	.	.	.	T	29.6	5.023044	0.93462	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	T;T	0.18960	2.18;2.18	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.75884	2.315	0.80722	D	1	D	0.59357	0.985	D	0.65140	0.932	T	0.47018	-0.9149	10	0.72032	D	0.01	.	16.1021	0.81178	0.0:0.0:0.0:1.0	.	208	O60671	RAD1_HUMAN	G	208;208;172	ENSP00000371469:D208G;ENSP00000340879:D208G	ENSP00000340879:D208G	D	-	2	0	RAD1	34945162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.210000	0.71456	0.533000	0.62120	GAT	RAD1	-	pfam_Rad1_Rec1_Rad17,prints_Rad1_repair	ENSG00000113456		0.343	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD1	HGNC	protein_coding	OTTHUMT00000207567.1	47	0.00	0	T	NM_002853		34909405	34909405	-1	no_errors	ENST00000341754	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	C
RUFY2	55680	genome.wustl.edu	37	10	70156614	70156614	+	Silent	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr10:70156614C>T	ENST00000602465.1	-	4	421	c.321G>A	c.(319-321)gcG>gcA	p.A107A	RUFY2_ENST00000454950.2_Silent_p.A49A|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000388768.2_Silent_p.A142A|RUFY2_ENST00000342616.4_Silent_p.A107A			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	156	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATCGAAGCCACGCTCTTGCTC	0.428																																						dbGAP											0													75.0	74.0	74.0					10																	70156614		1852	4094	5946	-	-	-	SO:0001819	synonymous_variant	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.321G>A	10.37:g.70156614C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel	p.R121H	ENST00000602465.1	37	c.362		10																																																																																			RUFY2	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000204130		0.428	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	57	0.00	0	C	NM_017987		70156614	70156614	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000466493	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.142	T
SARDH	1757	genome.wustl.edu	37	9	136568111	136568111	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr9:136568111G>A	ENST00000371872.4	-	13	1852	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V	SARDH_ENST00000422262.2_Missense_Mutation_p.A364V|SARDH_ENST00000439388.1_Missense_Mutation_p.A532V|SARDH_ENST00000371868.1_5'UTR	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	532					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCTCGTGCGCGCGGCTCCC	0.672																																						dbGAP											0													70.0	61.0	64.0					9																	136568111		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1595C>T	9.37:g.136568111G>A	ENSP00000360938:p.Ala532Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.A532V	ENST00000371872.4	37	c.1595	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	G	4.647	0.120332	0.08881	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.83075	-1.68;-1.68;-1.68	4.68	0.224	0.15297	.	0.919405	0.09370	N	0.811455	T	0.70430	0.3223	L	0.29908	0.895	0.09310	N	0.999999	B	0.14012	0.009	B	0.06405	0.002	T	0.54721	-0.8251	10	0.40728	T	0.16	-4.8696	5.1061	0.14785	0.3388:0.0:0.5304:0.1308	.	532	Q9UL12	SARDH_HUMAN	V	532;532;364;532	ENSP00000360938:A532V;ENSP00000403084:A532V;ENSP00000415537:A364V	ENSP00000360938:A532V	A	-	2	0	SARDH	135557932	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.359000	0.20233	-0.169000	0.10834	-0.224000	0.12420	GCG	SARDH	-	NULL	ENSG00000123453		0.672	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	9	0.00	0	G			136568111	136568111	-1	no_errors	ENST00000371872	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.000	A
SLC13A3	64849	genome.wustl.edu	37	20	45228668	45228668	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr20:45228668G>C	ENST00000279027.4	-	4	568	c.550C>G	c.(550-552)Cgg>Ggg	p.R184G	SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R137G|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R137G|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R137G|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R137G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	184					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCGTTTCTCCGCACAGCAGCT	0.468																																						dbGAP											0													155.0	139.0	145.0					20																	45228668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.550C>G	20.37:g.45228668G>C	ENSP00000279027:p.Arg184Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.R184G	ENST00000279027.4	37	c.550	CCDS13400.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.00|11.00	1.509194|1.509194	0.27036|0.27036	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915	.|T;T;T;T;T;T	.|0.06768	.|3.85;3.85;4.11;3.85;3.85;3.26	5.07|5.07	4.1|4.1	0.47936|0.47936	.|.	.|1.470090	.|0.03839	.|N	.|0.270228	T|T	0.05410|0.05410	0.0143|0.0143	N|N	0.02539|0.02539	-0.55|-0.55	0.35655|0.35655	D|D	0.81211|0.81211	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.10450	.|0.002;0.002;0.005	T|T	0.27054|0.27054	-1.0085|-1.0085	5|10	.|0.27082	.|T	.|0.32	-9.5774|-9.5774	13.1604|13.1604	0.59540|0.59540	0.0:0.0:0.8401:0.1599|0.0:0.0:0.8401:0.1599	.|.	.|137;137;184	.|Q8WWT9-3;F6WI18;Q8WWT9	.|.;.;S13A3_HUMAN	G|G	13|137;137;184;137;137;137	.|ENSP00000290317:R137G;ENSP00000379648:R137G;ENSP00000279027:R184G;ENSP00000420177:R137G;ENSP00000419621:R137G;ENSP00000417784:R137G	.|ENSP00000279027:R184G	A|R	-|-	2|1	0|2	SLC13A3|SLC13A3	44662075|44662075	0.007000|0.007000	0.16637|0.16637	0.483000|0.483000	0.27378|0.27378	0.998000|0.998000	0.95712|0.95712	1.430000|1.430000	0.34914|0.34914	1.104000|1.104000	0.41587|0.41587	0.544000|0.544000	0.68410|0.68410	GCG|CGG	SLC13A3	-	pfam_Na/sul_symport	ENSG00000158296		0.468	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	46	0.00	0	G			45228668	45228668	-1	no_errors	ENST00000279027	ensembl	human	known	69_37n	missense	68	24.44	22	SNP	0.142	C
SLC19A3	80704	genome.wustl.edu	37	2	228564073	228564073	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr2:228564073C>T	ENST00000258403.3	-	3	429	c.358G>A	c.(358-360)Gag>Aag	p.E120K	SLC19A3_ENST00000541617.1_Missense_Mutation_p.E116K|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	120					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TAGGCCACCTCGGCGGCGGTG	0.567																																						dbGAP											0													88.0	89.0	89.0					2																	228564073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.358G>A	2.37:g.228564073C>T	ENSP00000258403:p.Glu120Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.E120K	ENST00000258403.3	37	c.358	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.728397	0.96856	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	D;D;D	0.87809	-2.3;-2.3;-2.3	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.147591	0.64402	D	0.000007	D	0.94955	0.8368	M	0.91038	3.17	0.80722	D	1	P;D	0.71674	0.871;0.998	B;D	0.67900	0.234;0.954	D	0.94929	0.8080	10	0.56958	D	0.05	-23.6833	20.0467	0.97609	0.0:1.0:0.0:0.0	.	116;120	F5H2M8;Q9BZV2	.;S19A3_HUMAN	K	120;116;120	ENSP00000258403:E120K;ENSP00000445519:E116K;ENSP00000399001:E120K	ENSP00000258403:E120K	E	-	1	0	SLC19A3	228272317	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.810000	0.86072	2.749000	0.94314	0.655000	0.94253	GAG	SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000135917		0.567	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	15	0.00	0	C			228564073	228564073	-1	no_errors	ENST00000258403	ensembl	human	known	69_37n	missense	0	100.00	15	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66457401	66457401	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr11:66457401C>T	ENST00000533211.1	-	29	6155	c.5824G>A	c.(5824-5826)Gcg>Acg	p.A1942T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1942T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1942T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1942					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A1942T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ACTAGATCCGCGGAGGACACA	0.632																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	91.0	93.0					11																	66457401		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5824G>A	11.37:g.66457401C>T	ENSP00000432568:p.Ala1942Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.A1942T	ENST00000533211.1	37	c.5824	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.466565	0.96257	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50001	0.76;0.76;0.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.71581	2.175	0.80722	D	1	D	0.57899	0.981	P	0.51079	0.658	T	0.65389	-0.6180	10	0.72032	D	0.01	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	1942	O15020	SPTN2_HUMAN	T	1942	ENSP00000432568:A1942T;ENSP00000311489:A1942T;ENSP00000433593:A1942T	ENSP00000311489:A1942T	A	-	1	0	SPTBN2	66213977	0.989000	0.36119	0.975000	0.42487	0.993000	0.82548	7.604000	0.82830	2.664000	0.90586	0.655000	0.94253	GCG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	65	0.00	0	C	NM_006946		66457401	66457401	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	6	83.33	30	SNP	0.999	T
TNRC18	84629	genome.wustl.edu	37	7	5352597	5352599	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr7:5352597_5352599delGAG	ENST00000430969.1	-	27	8271_8273	c.7923_7925delCTC	c.(7921-7926)tcctct>tct	p.2641_2642SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2641_2642SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2641	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		cgaagaggaagaggaggaggagg	0.616																																						dbGAP											0										7,58,3583		0,1,6,11,35,1771						-6.7	0.0			6	12,58,6998		4,0,4,5,48,3473	no	codingComplex	TNRC18	NM_001080495.2		4,1,10,16,83,5244	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9904,1.7818,1.2598				19,116,10581				-	-	-	SO:0001651	inframe_deletion	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7923_7925delCTC	7.37:g.5352606_5352608delGAG	ENSP00000395538:p.Ser2671del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S2645in_frame_del	ENST00000430969.1	37	c.7925_7923	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.616	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		10	0.00	0	GAG			5352597	5352599	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	0.984:0.989:0.972	-
TRAM1L1	133022	genome.wustl.edu	37	4	118005644	118005644	+	Silent	SNP	C	C	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr4:118005644C>A	ENST00000310754.4	-	1	1092	c.906G>T	c.(904-906)tcG>tcT	p.S302S		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	302	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCAACTGGACGACAGAACAG	0.443																																						dbGAP											0													125.0	114.0	117.0					4																	118005644		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.906G>T	4.37:g.118005644C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2L7	Silent	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.S302	ENST00000310754.4	37	c.906	CCDS3707.1	4																																																																																			TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.443	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	51	0.00	0	C	NM_152402		118005644	118005644	-1	no_errors	ENST00000310754	ensembl	human	known	69_37n	silent	61	20.78	16	SNP	0.037	A
ZDBF2	57683	genome.wustl.edu	37	2	207175936	207175936	+	Silent	SNP	G	G	A			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr2:207175936G>A	ENST00000374423.3	+	5	7070	c.6684G>A	c.(6682-6684)tcG>tcA	p.S2228S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363																																						dbGAP											0													39.0	38.0	38.0					2																	207175936		1817	4076	5893	-	-	-	SO:0001819	synonymous_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6684G>A	2.37:g.207175936G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.S2228	ENST00000374423.3	37	c.6684	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	55	0.00	0	G	NM_020923		207175936	207175936	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	silent	4	85.71	24	SNP	0.152	A
ZFHX4	79776	genome.wustl.edu	37	8	77764795	77764795	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XF-01A-11D-A14G-09	TCGA-D8-A1XF-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e1587f32-2ff9-40f3-97dd-b45b0f14be46	6218f631-47be-4e92-a6fb-d0cd09bddca7	g.chr8:77764795A>G	ENST00000521891.2	+	10	6086	c.5638A>G	c.(5638-5640)Aaa>Gaa	p.K1880E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1835E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1854E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1835E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAGGACTCAAAGAAGGCAA	0.433										HNSCC(33;0.089)																												dbGAP											0													37.0	33.0	34.0					8																	77764795		1893	4120	6013	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5638A>G	8.37:g.77764795A>G	ENSP00000430497:p.Lys1880Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K1880E	ENST00000521891.2	37	c.5638	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968574	0.34754	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.47;0.49;0.46;0.47	4.53	4.53	0.55603	.	0.000000	0.42172	U	0.000758	T	0.66819	0.2828	M	0.74258	2.255	0.49687	D	0.999813	D;D;D	0.61697	0.982;0.99;0.99	P;P;P	0.57911	0.679;0.829;0.829	T	0.69669	-0.5083	10	0.45353	T	0.12	.	14.3624	0.66782	1.0:0.0:0.0:0.0	.	1835;1835;1880	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	1880;1880;1835;1835;1854	ENSP00000430497:K1880E;ENSP00000399605:K1835E;ENSP00000050961:K1835E;ENSP00000430848:K1854E	ENSP00000050961:K1835E	K	+	1	0	ZFHX4	77927350	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.068000	0.76748	2.045000	0.60652	0.514000	0.50259	AAA	ZFHX4	-	NULL	ENSG00000091656		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	35	0.00	0	A	NM_024721		77764795	77764795	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	32	47.54	29	SNP	0.999	G
