#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACACB	32	genome.wustl.edu	37	12	109704092	109704092	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:109704092C>A	ENST00000338432.7	+	53	7421	c.7302C>A	c.(7300-7302)agC>agA	p.S2434R	ACACB_ENST00000377848.3_Missense_Mutation_p.S2434R|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.S2364R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2434					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TATACCTGAGCCAGCACATCA	0.637																																						dbGAP											0													68.0	56.0	60.0					12																	109704092		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7302C>A	12.37:g.109704092C>A	ENSP00000341044:p.Ser2434Arg		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S2434R	ENST00000338432.7	37	c.7302	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742951	0.49151	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.48522	0.81;0.81;0.81	4.93	1.91	0.25777	.	0.189016	0.53938	D	0.000042	T	0.34542	0.0901	L	0.44542	1.39	0.80722	D	1	P	0.43431	0.807	B	0.40636	0.335	T	0.11179	-1.0598	10	0.48119	T	0.1	.	4.8043	0.13312	0.0:0.5299:0.1653:0.3049	.	2434	O00763	ACACB_HUMAN	R	2434;2434;2364;1665;128	ENSP00000341044:S2434R;ENSP00000367079:S2434R;ENSP00000367085:S2364R	ENSP00000341044:S2434R	S	+	3	2	ACACB	108188475	0.965000	0.33210	1.000000	0.80357	0.776000	0.43924	0.129000	0.15830	1.212000	0.43366	0.655000	0.94253	AGC	ACACB	-	NULL	ENSG00000076555		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	45	0.00	0	C	NM_001093		109704092	109704092	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	0.999	A
ADAMDEC1	27299	genome.wustl.edu	37	8	24256522	24256522	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr8:24256522A>G	ENST00000256412.4	+	9	1118	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.K221E|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K221E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	300	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K300E(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAACCTGGGGAAAAAGATCCA	0.512																																					Ovarian(147;687 1849 3699 25981 31337)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											95.0	84.0	88.0					8																	24256522		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.898A>G	8.37:g.24256522A>G	ENSP00000256412:p.Lys300Glu		B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K300E	ENST00000256412.4	37	c.898	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579833	0.28180	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.63744	-0.06;-0.06;-0.06	5.51	-0.272	0.12919	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.454266	0.22584	N	0.058169	T	0.59715	0.2214	L	0.37561	1.115	0.09310	N	1	P	0.47962	0.903	P	0.60415	0.874	T	0.51490	-0.8699	10	0.62326	D	0.03	-8.2361	3.4713	0.07569	0.5578:0.2466:0.0758:0.1199	.	300	O15204	ADEC1_HUMAN	E	300;221;221	ENSP00000256412:K300E;ENSP00000442592:K221E;ENSP00000428993:K221E	ENSP00000256412:K300E	K	+	1	0	ADAMDEC1	24312467	0.084000	0.21492	0.000000	0.03702	0.008000	0.06430	1.517000	0.35867	-0.222000	0.09958	-1.139000	0.01908	AAA	ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134028		0.512	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	72	0.00	0	A	NM_014479		24256522	24256522	+1	no_errors	ENST00000256412	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	0.000	G
ANK3	288	genome.wustl.edu	37	10	61830358	61830358	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr10:61830358C>A	ENST00000280772.2	-	37	10472	c.10281G>T	c.(10279-10281)ttG>ttT	p.L3427F	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3427					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACTCTCTGTCAAGCCATCAT	0.468																																						dbGAP											0													98.0	91.0	94.0					10																	61830358		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10281G>T	10.37:g.61830358C>A	ENSP00000280772:p.Leu3427Phe		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.L3427F	ENST00000280772.2	37	c.10281	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426471	0.43020	.	.	ENSG00000151150	ENST00000280772	T	0.77098	-1.07	5.36	3.34	0.38264	.	0.000000	0.30464	N	0.009561	T	0.81389	0.4812	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.78914	-0.2016	10	0.41790	T	0.15	.	6.7197	0.23323	0.0:0.5944:0.1524:0.2532	.	3427	Q12955	ANK3_HUMAN	F	3427	ENSP00000280772:L3427F	ENSP00000280772:L3427F	L	-	3	2	ANK3	61500364	1.000000	0.71417	0.963000	0.40424	0.817000	0.46193	1.211000	0.32382	1.235000	0.43724	0.462000	0.41574	TTG	ANK3	-	NULL	ENSG00000151150		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	170	0.00	0	C	NM_020987		61830358	61830358	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	110	50.89	114	SNP	0.998	A
BAZ1A	11177	genome.wustl.edu	37	14	35240774	35240774	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr14:35240774T>C	ENST00000382422.2	-	20	3571	c.3244A>G	c.(3244-3246)Atg>Gtg	p.M1082V	BAZ1A_ENST00000358716.4_Missense_Mutation_p.M1050V|BAZ1A_ENST00000360310.1_Missense_Mutation_p.M1082V			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1082					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAGAGTGCCATTGCCAGATAA	0.373																																						dbGAP											0													200.0	195.0	196.0					14																	35240774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3244A>G	14.37:g.35240774T>C	ENSP00000371859:p.Met1082Val		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.M1082V	ENST00000382422.2	37	c.3244	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	T	5.582	0.292177	0.10567	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.70749	-0.51;-0.51;-0.51	5.66	3.23	0.37069	.	0.785208	0.12632	N	0.452117	T	0.39886	0.1095	N	0.02539	-0.55	0.09310	N	1	B;B	0.13145	0.006;0.007	B;B	0.10450	0.005;0.003	T	0.27673	-1.0067	10	0.10111	T	0.7	.	6.6983	0.23211	0.2523:0.0:0.2356:0.5121	.	1050;1082	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	V	1050;1082;1082;734	ENSP00000351555:M1050V;ENSP00000371859:M1082V;ENSP00000353458:M1082V	ENSP00000351555:M1050V	M	-	1	0	BAZ1A	34310525	0.003000	0.15002	0.243000	0.24186	0.733000	0.41908	0.846000	0.27682	0.383000	0.24910	-0.309000	0.09137	ATG	BAZ1A	-	NULL	ENSG00000198604		0.373	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	210	0.00	0	T			35240774	35240774	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	missense	341	15.14	61	SNP	0.000	C
BBS7	55212	genome.wustl.edu	37	4	122765151	122765151	+	Silent	SNP	A	A	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr4:122765151A>G	ENST00000264499.4	-	12	1419	c.1236T>C	c.(1234-1236)gaT>gaC	p.D412D	BBS7_ENST00000506636.1_Silent_p.D412D	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	412					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTATTGGAACATCACTCTATA	0.294									Bardet-Biedl syndrome																													dbGAP											0													41.0	41.0	41.0					4																	122765151		2196	4296	6492	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1236T>C	4.37:g.122765151A>G			Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.D412	ENST00000264499.4	37	c.1236	CCDS3724.1	4																																																																																			BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.294	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	39	0.00	0	A			122765151	122765151	-1	no_errors	ENST00000264499	ensembl	human	known	69_37n	silent	32	30.43	14	SNP	1.000	G
BRIP1	83990	genome.wustl.edu	37	17	59763364	59763364	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr17:59763364G>A	ENST00000259008.2	-	19	3005	c.2738C>T	c.(2737-2739)tCt>tTt	p.S913F	BRIP1_ENST00000577598.1_Missense_Mutation_p.S913F	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	913	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTACTTTAAAGAGGTCACTTC	0.368			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													183.0	182.0	182.0					17																	59763364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2738C>T	17.37:g.59763364G>A	ENSP00000259008:p.Ser913Phe		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S913F	ENST00000259008.2	37	c.2738	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	G	9.373	1.071009	0.20147	.	.	ENSG00000136492	ENST00000259008	T	0.74421	-0.84	5.81	2.78	0.32641	.	0.951389	0.08798	N	0.892176	T	0.56558	0.1993	N	0.22421	0.69	0.09310	N	1	B;B	0.31931	0.054;0.347	B;B	0.28232	0.027;0.087	T	0.42050	-0.9474	9	.	.	.	-0.0019	5.3021	0.15783	0.0:0.6018:0.1563:0.2419	.	913;913	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	F	913	ENSP00000259008:S913F	.	S	-	2	0	BRIP1	57118146	0.000000	0.05858	0.069000	0.20011	0.064000	0.16182	-0.216000	0.09266	0.386000	0.24997	-0.165000	0.13383	TCT	BRIP1	-	NULL	ENSG00000136492		0.368	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	263	0.00	0	G	NM_032043		59763364	59763364	-1	no_errors	ENST00000259008	ensembl	human	known	69_37n	missense	196	34.77	105	SNP	0.049	A
BSN	8927	genome.wustl.edu	37	3	49701899	49701899	+	Silent	SNP	C	C	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr3:49701899C>T	ENST00000296452.4	+	9	11766	c.11652C>T	c.(11650-11652)ccC>ccT	p.P3884P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3884					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGGGGCTCCCGCCGGCCAGC	0.622																																						dbGAP											0													53.0	65.0	61.0					3																	49701899		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11652C>T	3.37:g.49701899C>T			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.P3884	ENST00000296452.4	37	c.11652	CCDS2800.1	3																																																																																			BSN	-	NULL	ENSG00000164061		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	56	0.00	0	C	NM_003458		49701899	49701899	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	0.700	T
CARD11	84433	genome.wustl.edu	37	7	2968322	2968323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr7:2968322_2968323insG	ENST00000396946.4	-	13	2066_2067	c.1663_1664insC	c.(1663-1665)cggfs	p.R555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL																																	dbGAP		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1664dupC	7.37:g.2968329_2968329dupG	ENSP00000380150:p.Arg555fs		A4D1Z7|Q2NKN7|Q548H3	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.R555fs	ENST00000396946.4	37	c.1664_1663	CCDS5336.2	7																																																																																			CARD11	-	NULL	ENSG00000198286		0.589	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	22	0.00	0	-	NM_032415		2968322	2968323	-1	no_errors	ENST00000396946	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.395:0.080	G
CIT	11113	genome.wustl.edu	37	12	120173024	120173024	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:120173024C>A	ENST00000261833.7	-	24	3023	c.2971G>T	c.(2971-2973)Gtg>Ttg	p.V991L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.V1033L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	991					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGATGGTCCACTTCACTTCGC	0.517																																						dbGAP											0													220.0	188.0	199.0					12																	120173024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2971G>T	12.37:g.120173024C>A	ENSP00000261833:p.Val991Leu		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.V991L	ENST00000261833.7	37	c.2971	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.966350|4.966350	0.92855|0.92855	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520;ENST00000546026|ENST00000392521;ENST00000261833	.|T;T	.|0.63913	.|-0.07;-0.07	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68888|0.68888	0.3050|0.3050	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.64830	.|0.994;0.984;0.75	.|D;D;P	.|0.72625	.|0.978;0.956;0.571	T|T	0.65113|0.65113	-0.6247|-0.6247	5|10	.|0.26408	.|T	.|0.33	.|.	19.1641|19.1641	0.93546|0.93546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1033;991;524	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	N|L	618;16|1033;991	.|ENSP00000376306:V1033L;ENSP00000261833:V991L	.|ENSP00000261833:V991L	K|V	-|-	3|1	2|0	CIT|CIT	118657407|118657407	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	7.776000|7.776000	0.85560|0.85560	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	AAG|GTG	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.517	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	107	0.00	0	C	NM_007174		120173024	120173024	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	135	21.51	37	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	3266956	3266956	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr8:3266956G>T	ENST00000520002.1	-	14	2291	c.1736C>A	c.(1735-1737)cCc>cAc	p.P579H	CSMD1_ENST00000539096.1_Missense_Mutation_p.P578H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P578H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P579H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P579H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P578H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P579H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	579	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACACAGCTGGGCTTGTTGCC	0.522																																						dbGAP											0													49.0	50.0	50.0					8																	3266956		1974	4167	6141	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1736C>A	8.37:g.3266956G>T	ENSP00000430733:p.Pro579His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P579H	ENST00000520002.1	37	c.1736		8	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765743	0.90020	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	D	0.93245	0.7848	H	0.98388	4.22	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95870	0.8890	10	0.87932	D	0	.	18.8659	0.92292	0.0:0.0:1.0:0.0	.	579	E5RIG2	.	H	579;579;441;578;578;578	ENSP00000383047:P579H;ENSP00000430733:P579H;ENSP00000441462:P578H;ENSP00000446243:P578H;ENSP00000441675:P578H	ENSP00000320445:P441H	P	-	2	0	CSMD1	3254363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.549000	0.98106	2.443000	0.82685	0.573000	0.79308	CCC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	50	0.00	0	G	NM_033225		3266956	3266956	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43016263	43016263	+	Missense_Mutation	SNP	G	G	T	rs543453258		TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr6:43016263G>T	ENST00000265348.3	-	8	1955	c.1870C>A	c.(1870-1872)Ctg>Atg	p.L624M	CUL7_ENST00000535468.1_Missense_Mutation_p.L708M|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	624					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTCCACCAGACGCTGCAGG	0.552																																						dbGAP											0													51.0	54.0	53.0					6																	43016263		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1870C>A	6.37:g.43016263G>T	ENSP00000265348:p.Leu624Met		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L708M	ENST00000265348.3	37	c.2122	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014040	0.54468	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.83075	-1.66;-1.68	5.03	4.16	0.48862	.	1.942820	0.02507	N	0.091085	D	0.85660	0.5748	L	0.58101	1.795	0.31927	N	0.612681	D;D	0.71674	0.998;0.995	D;D	0.71656	0.974;0.923	T	0.65504	-0.6152	10	0.66056	D	0.02	-6.2225	9.6512	0.39899	0.097:0.0:0.903:0.0	.	708;624	F5H0L1;Q14999	.;CUL7_HUMAN	M	624;708	ENSP00000265348:L624M;ENSP00000438788:L708M	ENSP00000265348:L624M	L	-	1	2	CUL7	43124241	0.310000	0.24527	0.078000	0.20375	0.081000	0.17604	2.383000	0.44354	1.251000	0.43983	0.655000	0.94253	CTG	CUL7	-	NULL	ENSG00000044090		0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	172	0.00	0	G	NM_014780		43016263	43016263	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	missense	198	14.59	34	SNP	0.237	T
DUSP16	80824	genome.wustl.edu	37	12	12630478	12630478	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:12630478G>C	ENST00000228862.2	-	7	1918	c.1287C>G	c.(1285-1287)taC>taG	p.Y429*	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	429					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		AAGGTTTGTAGTATTCCAAAG	0.473																																					Ovarian(158;443 1896 15437 36069 46477)	dbGAP											0													89.0	92.0	91.0					12																	12630478		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1287C>G	12.37:g.12630478G>C	ENSP00000228862:p.Tyr429*		Q547C7|Q96QS2|Q9C0G3	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.Y429*	ENST00000228862.2	37	c.1287	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.895199	0.97916	.	.	ENSG00000111266	ENST00000228862	.	.	.	5.6	3.63	0.41609	.	1.391920	0.04279	N	0.343531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0854	0.53693	0.0:0.1308:0.7332:0.136	.	.	.	.	X	429	.	ENSP00000228862:Y429X	Y	-	3	2	DUSP16	12521745	0.997000	0.39634	0.851000	0.33527	0.208000	0.24298	0.969000	0.29370	1.318000	0.45170	0.655000	0.94253	TAC	DUSP16	-	NULL	ENSG00000111266		0.473	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	137	0.00	0	G	NM_030640		12630478	12630478	-1	no_errors	ENST00000228862	ensembl	human	known	69_37n	nonsense	60	28.57	24	SNP	0.907	C
F13A1	2162	genome.wustl.edu	37	6	6197531	6197531	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr6:6197531T>A	ENST00000264870.3	-	9	1406	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	381					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCCTTGTCATCCATGCTTCA	0.502																																						dbGAP											0													101.0	93.0	96.0					6																	6197531		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1141A>T	6.37:g.6197531T>A	ENSP00000264870:p.Met381Leu		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.M381L	ENST00000264870.3	37	c.1141	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723099	0.89298	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.95137	-3.62	5.47	5.47	0.80525	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	L	0.49350	1.555	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.69307	0.84;0.963	D	0.95541	0.8612	10	0.56958	D	0.05	.	14.7423	0.69464	0.0:0.0:0.0:1.0	.	318;381	F5H080;P00488	.;F13A_HUMAN	L	381;318	ENSP00000264870:M381L	ENSP00000264870:M381L	M	-	1	0	F13A1	6142530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.516000	0.81772	2.069000	0.61940	0.533000	0.62120	ATG	F13A1	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000124491		0.502	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	82	0.00	0	T	NM_000129		6197531	6197531	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	missense	109	11.38	14	SNP	1.000	A
FAM86HP	729375	genome.wustl.edu	37	3	129821679	129821679	+	RNA	SNP	G	G	A	rs2976117	byFrequency	TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr3:129821679G>A	ENST00000500074.2	-	0	466									family with sequence similarity 86, member H, pseudogene																		TCAGGAGCCCGCTGGTGCTCC	0.647													g|||	778	0.155351	0.0197	0.2147	5008	,	,		15585	0.3889		0.0895	False		,,,				2504	0.1237					dbGAP											0																																										-	-	-			0					3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821679G>A				RNA	SNP	-	NULL	ENST00000500074.2	37	NULL		3																																																																																			FAM86HP	-	-	ENSG00000253540		0.647	FAM86HP-002	PUTATIVE	basic	processed_transcript	FAM86HP	HGNC	pseudogene	OTTHUMT00000358348.1	34	0.00	0	G			129821679	129821679	-1	no_errors	ENST00000500074	ensembl	human	putative	69_37n	rna	13	45.83	11	SNP	0.107	A
FLG	2312	genome.wustl.edu	37	1	152276823	152276823	+	Silent	SNP	C	C	T	rs531858654	byFrequency	TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr1:152276823C>T	ENST00000368799.1	-	3	10574	c.10539G>A	c.(10537-10539)gcG>gcA	p.A3513A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3513	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)	p.A3513A(1)		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)			TAGAGCTGTCCGCCTGAGTGG	0.567									Ichthyosis																													dbGAP											1	Substitution - coding silent(1)	lung(1)											227.0	221.0	223.0					1																	152276823		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	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.10539G>A	1.37:g.152276823C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.A3513	ENST00000368799.1	37	c.10539	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin	ENSG00000143631		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	388	0.26	1	C	NM_002016		152276823	152276823	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	335	25.22	113	SNP	0.000	T
FLT3	2322	genome.wustl.edu	37	13	28610163	28610163	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr13:28610163C>T	ENST00000241453.7	-	11	1408	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	FLT3_ENST00000380982.4_Missense_Mutation_p.A443T|FLT3_ENST00000537084.1_Missense_Mutation_p.A443T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	443					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCTTCTGCGAGCACTTGA	0.463			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													156.0	146.0	150.0					13																	28610163		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1327G>A	13.37:g.28610163C>T	ENSP00000241453:p.Ala443Thr		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A443T	ENST00000241453.7	37	c.1327	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	5.659	0.306235	0.10733	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76709	-0.97;-1.04;-0.77	5.51	2.4	0.29515	.	0.469928	0.20667	N	0.087910	T	0.50854	0.1640	N	0.14661	0.345	0.09310	N	1	P;P	0.42039	0.769;0.659	B;B	0.33121	0.158;0.076	T	0.41787	-0.9489	10	0.18710	T	0.47	.	5.4442	0.16524	0.0:0.5258:0.0:0.4742	.	443;443	P36888-2;P36888	.;FLT3_HUMAN	T	443	ENSP00000241453:A443T;ENSP00000370369:A443T;ENSP00000438139:A443T	ENSP00000241453:A443T	A	-	1	0	FLT3	27508163	0.005000	0.15991	0.004000	0.12327	0.103000	0.19146	1.027000	0.30115	0.690000	0.31570	0.563000	0.77884	GCA	FLT3	-	NULL	ENSG00000122025		0.463	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	346	0.00	0	C			28610163	28610163	-1	no_errors	ENST00000380982	ensembl	human	known	69_37n	missense	204	13.56	32	SNP	0.001	T
GABRA3	2556	genome.wustl.edu	37	X	151376601	151376601	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chrX:151376601G>A	ENST00000370314.4	-	7	888	c.650C>T	c.(649-651)gCt>gTt	p.A217V	GABRA3_ENST00000535043.1_Missense_Mutation_p.A217V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	217					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AACCACTTCAGCTGTTGTATA	0.418																																					NSCLC(142;2578 2613 10251 16743)	dbGAP											0													125.0	103.0	111.0					X																	151376601		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.650C>T	X.37:g.151376601G>A	ENSP00000359337:p.Ala217Val		Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A217V	ENST00000370314.4	37	c.650	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257265	0.59321	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.79653	-1.29;-1.29;-1.29	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel ligand-binding (3);	0.113706	0.64402	D	0.000014	T	0.79545	0.4464	L	0.61036	1.89	0.31124	N	0.708519	B	0.20164	0.042	B	0.22880	0.042	T	0.79485	-0.1784	10	0.62326	D	0.03	.	15.4339	0.75129	0.0:0.0:1.0:0.0	.	217	P34903	GBRA3_HUMAN	V	217	ENSP00000359337:A217V;ENSP00000359334:A217V;ENSP00000443527:A217V	ENSP00000359334:A217V	A	-	2	0	GABRA3	151127257	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	5.863000	0.69568	2.237000	0.73441	0.422000	0.28245	GCT	GABRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000011677		0.418	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	157	0.00	0	G	NM_000808		151376601	151376601	-1	no_errors	ENST00000370311	ensembl	human	known	69_37n	missense	59	70.65	142	SNP	0.988	A
GAD2	2572	genome.wustl.edu	37	10	26534867	26534867	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr10:26534867G>C	ENST00000376261.3	+	8	1361	c.858G>C	c.(856-858)aaG>aaC	p.K286N	GAD2_ENST00000259271.3_Missense_Mutation_p.K286N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	286			K -> R (in dbSNP:rs8190671). {ECO:0000269|Ref.4}.		glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTCTCTCAAGAAGGGAGCTG	0.388																																						dbGAP											0													99.0	92.0	95.0					10																	26534867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.858G>C	10.37:g.26534867G>C	ENSP00000365437:p.Lys286Asn		Q9UD87	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.K286N	ENST00000376261.3	37	c.858	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570163	0.65765	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.40225	1.04;1.04	5.2	4.29	0.51040	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.91768	3.24	0.80722	D	1	P	0.52692	0.955	P	0.60541	0.876	T	0.74688	-0.3581	10	0.72032	D	0.01	-19.1009	12.4705	0.55783	0.0829:0.0:0.9171:0.0	.	286	Q05329	DCE2_HUMAN	N	286	ENSP00000365437:K286N;ENSP00000259271:K286N	ENSP00000259271:K286N	K	+	3	2	GAD2	26574873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.262000	0.43285	1.168000	0.42723	0.650000	0.86243	AAG	GAD2	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000136750		0.388	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1	48	0.00	0	G	NM_000818		26534867	26534867	+1	no_errors	ENST00000259271	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	1.000	C
GNPTAB	79158	genome.wustl.edu	37	12	102159934	102159934	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:102159934T>C	ENST00000299314.7	-	12	1809	c.1547A>G	c.(1546-1548)gAt>gGt	p.D516G	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	516					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACAGAACTTATCAGCGAGCCA	0.483																																						dbGAP											0													200.0	181.0	188.0					12																	102159934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1547A>G	12.37:g.102159934T>C	ENSP00000299314:p.Asp516Gly		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.D516G	ENST00000299314.7	37	c.1547	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	T	29.1	4.975905	0.92982	.	.	ENSG00000111670	ENST00000299314	D	0.94966	-3.57	5.44	5.44	0.79542	Notch domain (3);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98025	1.0373	10	0.87932	D	0	-29.8093	15.804	0.78477	0.0:0.0:0.0:1.0	.	516	Q3T906	GNPTA_HUMAN	G	516	ENSP00000299314:D516G	ENSP00000299314:D516G	D	-	2	0	GNPTAB	100684065	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	7.361000	0.79497	2.193000	0.70182	0.533000	0.62120	GAT	GNPTAB	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom	ENSG00000111670		0.483	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	391	0.00	0	T			102159934	102159934	-1	no_errors	ENST00000299314	ensembl	human	known	69_37n	missense	404	32.21	192	SNP	1.000	C
HERC2P4	100289574	genome.wustl.edu	37	16	32163606	32163606	+	IGR	SNP	C	C	T	rs529463804		TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr16:32163606C>T								RP11-1166P10.6 (67500 upstream) : HERC2P4 (17698 downstream)																							CAGCCAGGACCGCCATGAGGC	0.597													c|||	1	0.000199681	0.0	0.0	5008	,	,		17363	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.32163606C>T				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.597					HERC2P4	HGNC			47	0.00	0	C			32163606	32163606	-1	no_errors	ENST00000563904	ensembl	human	known	69_37n	rna	30	18.92	7	SNP	0.996	T
HYDIN	54768	genome.wustl.edu	37	16	70977777	70977777	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr16:70977777C>T	ENST00000393567.2	-	42	6757	c.6607G>A	c.(6607-6609)Ggg>Agg	p.G2203R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2203					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCATCAGCCCGGTCTCGCCT	0.622																																						dbGAP											0													34.0	35.0	34.0					16																	70977777		2019	4182	6201	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6607G>A	16.37:g.70977777C>T	ENSP00000377197:p.Gly2203Arg		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.G2202R	ENST00000393567.2	37	c.6604	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380798	0.61845	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00940	5.52	4.95	4.95	0.65309	.	0.000000	0.33553	U	0.004781	T	0.05090	0.0136	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34775	-0.9815	10	0.72032	D	0.01	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	2202	F8WD23	.	R	2203;2202	ENSP00000377197:G2203R	ENSP00000313052:G2202R	G	-	1	0	HYDIN	69535278	0.996000	0.38824	0.818000	0.32626	0.064000	0.16182	4.120000	0.57897	2.442000	0.82660	0.609000	0.83330	GGG	HYDIN	-	NULL	ENSG00000157423		0.622	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	20	0.00	0	C			70977777	70977777	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.974	T
IL1RL2	8808	genome.wustl.edu	37	2	102851497	102851497	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr2:102851497G>A	ENST00000264257.2	+	11	1564	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.G480R|IL1RL2_ENST00000441515.2_Missense_Mutation_p.G362R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	480	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.G480W(1)|p.G362W(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GATCCAGGACGGGATGAAGGT	0.502																																						dbGAP											2	Substitution - Missense(2)	lung(2)											149.0	130.0	136.0					2																	102851497		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1438G>A	2.37:g.102851497G>A	ENSP00000264257:p.Gly480Arg		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.G480R	ENST00000264257.2	37	c.1438	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812052	0.70797	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.02552	4.25;4.25;4.25	5.22	5.22	0.72569	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.120363	0.53938	D	0.000042	T	0.14013	0.0339	M	0.80183	2.485	0.46241	D	0.998946	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01228	-1.1412	10	0.30854	T	0.27	.	12.1637	0.54117	0.0786:0.0:0.9214:0.0	.	362;480	A4FU63;Q9HB29	.;ILRL2_HUMAN	R	480;362;480	ENSP00000264257:G480R;ENSP00000413348:G362R;ENSP00000442184:G480R	ENSP00000264257:G480R	G	+	1	0	IL1RL2	102217929	1.000000	0.71417	0.946000	0.38457	0.761000	0.43186	5.489000	0.66875	2.448000	0.82819	0.591000	0.81541	GGG	IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1	ENSG00000115598		0.502	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	117	0.00	0	G	NM_003854		102851497	102851497	+1	no_errors	ENST00000264257	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	0.991	A
KDM5A	5927	genome.wustl.edu	37	12	432248	432249	+	Splice_Site	INS	-	-	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:432248_432249insT	ENST00000399788.2	-	16	2636_2637	c.2274_2275insA	c.(2272-2277)aaagat>aaaAgat	p.D759fs	KDM5A_ENST00000382815.4_Splice_Site_p.D759fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	759					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GAAATTTAACCTTTTTTGTGGT	0.356			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2275+1->A	12.37:g.432254_432254dupT			A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D758fs	ENST00000399788.2	37	c.2275_2274	CCDS41736.1	12																																																																																			KDM5A	-	pfam_Lys_sp_deMease_like_dom	ENSG00000073614		0.356	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	186	0.00	0	-	NM_005056	Frame_Shift_Ins	432248	432249	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	frame_shift_ins	140	28.57	56	INS	1.000:1.000	T
ICE1	23379	genome.wustl.edu	37	5	5437196	5437196	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr5:5437196T>A	ENST00000296564.7	+	3	369	c.147T>A	c.(145-147)aaT>aaA	p.N49K	KIAA0947_ENST00000512608.1_3'UTR	NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		49					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTGCAGTAATTTGTTAACAG	0.284																																						dbGAP											0													86.0	73.0	77.0					5																	5437196		1777	4050	5827	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.147T>A	5.37:g.5437196T>A	ENSP00000296564:p.Asn49Lys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.N49K	ENST00000296564.7	37	c.147	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	T	18.26	3.583834	0.65992	.	.	ENSG00000164151	ENST00000296564	T	0.09723	2.95	5.55	2.99	0.34606	.	0.435749	0.21119	U	0.079849	T	0.16896	0.0406	L	0.27053	0.805	0.23430	N	0.997697	D	0.89917	1.0	D	0.87578	0.998	T	0.05750	-1.0866	10	0.87932	D	0	-39.5876	5.9672	0.19332	0.0:0.2612:0.0:0.7388	.	49	Q9Y2F5	K0947_HUMAN	K	49	ENSP00000296564:N49K	ENSP00000296564:N49K	N	+	3	2	KIAA0947	5490196	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	0.812000	0.27211	0.325000	0.23359	0.377000	0.23210	AAT	KIAA0947	-	NULL	ENSG00000164151		0.284	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	12	0.00	0	T			5437196	5437196	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	1.000	A
LAIR1	3903	genome.wustl.edu	37	19	54870140	54870140	+	Intron	SNP	C	C	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr19:54870140C>T	ENST00000391742.2	-	4	568				LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000313038.6_Intron|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000434277.2_Intron			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTCATTCTAACTATTTCTCCC	0.393																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.415+1488G>A	19.37:g.54870140C>T				Missense_Mutation	SNP	NULL	p.V60I	ENST00000391742.2	37	c.178	CCDS12891.1	19	.	.	.	.	.	.	.	.	.	.	.	2.241	-0.373826	0.05034	.	.	ENSG00000167613	ENST00000444687	T	0.51817	0.69	1.52	-2.76	0.05896	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21999	-1.0229	6	0.05351	T	0.99	.	3.1883	0.06608	0.0:0.2882:0.2246:0.4871	.	.	.	.	I	60	ENSP00000392722:V60I	ENSP00000392722:V60I	V	-	1	0	LAIR1	59561952	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.457000	0.06745	-1.037000	0.03283	-0.761000	0.03458	GTT	LAIR1	-	NULL	ENSG00000167613		0.393	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR1	HGNC	protein_coding	OTTHUMT00000140506.1	44	0.00	0	C			54870140	54870140	-1	no_start_codon	ENST00000444687	ensembl	human	putative	69_37n	missense	25	10.71	3	SNP	0.000	T
LAMB4	22798	genome.wustl.edu	37	7	107717436	107717436	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr7:107717436G>T	ENST00000388781.3	-	17	2160	c.2077C>A	c.(2077-2079)Cct>Act	p.P693T	LAMB4_ENST00000418464.1_Missense_Mutation_p.P693T|LAMB4_ENST00000414450.2_Missense_Mutation_p.P693T|LAMB4_ENST00000205386.4_Missense_Mutation_p.P693T|LAMB4_ENST00000388780.3_Missense_Mutation_p.P693T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	693	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTTGCAAAGGCTGAGAAAAA	0.408																																						dbGAP											0													114.0	116.0	115.0					7																	107717436		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2077C>A	7.37:g.107717436G>T	ENSP00000373433:p.Pro693Thr		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.P693T	ENST00000388781.3	37	c.2077	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	G	1.739	-0.492246	0.04322	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.30182	1.58;1.58;1.6;1.54;1.59	5.3	-1.22	0.09494	Laminin IV (1);	0.400539	0.21304	N	0.076747	T	0.18509	0.0444	L	0.50333	1.59	0.24501	N	0.994254	B	0.24721	0.11	B	0.20577	0.03	T	0.12604	-1.0541	10	0.22706	T	0.39	.	1.9819	0.03428	0.3675:0.1259:0.3787:0.128	.	693	A4D0S4	LAMB4_HUMAN	T	693	ENSP00000205386:P693T;ENSP00000373433:P693T;ENSP00000373432:P693T;ENSP00000402353:P693T;ENSP00000402265:P693T	ENSP00000205386:P693T	P	-	1	0	LAMB4	107504672	1.000000	0.71417	0.984000	0.44739	0.899000	0.52679	0.440000	0.21592	-0.107000	0.12088	0.655000	0.94253	CCT	LAMB4	-	pfscan_Laminin_IV	ENSG00000091128		0.408	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	143	0.00	0	G	XM_209857		107717436	107717436	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	123	16.78	25	SNP	0.662	T
LRP1	4035	genome.wustl.edu	37	12	57573216	57573216	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:57573216G>A	ENST00000243077.3	+	29	5309	c.4843G>A	c.(4843-4845)Gac>Aac	p.D1615N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1615					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCGACATCGACAACGTCAC	0.567																																						dbGAP											0													244.0	161.0	189.0					12																	57573216		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4843G>A	12.37:g.57573216G>A	ENSP00000243077:p.Asp1615Asn		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D1615N	ENST00000243077.3	37	c.4843	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350932	0.82132	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	4.5	4.5	0.54988	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.92100	0.7496	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.89340	0.3653	10	0.19147	T	0.46	.	16.4748	0.84129	0.0:0.0:1.0:0.0	.	1615	Q07954	LRP1_HUMAN	N	1615	ENSP00000243077:D1615N	ENSP00000243077:D1615N	D	+	1	0	LRP1	55859483	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.519000	0.98025	2.480000	0.83734	0.655000	0.94253	GAC	LRP1	-	smart_LDLR_classB_rpt	ENSG00000123384		0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	46	0.00	0	G	NM_002332		57573216	57573216	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	A
LRSAM1	90678	genome.wustl.edu	37	9	130236137	130236137	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr9:130236137A>G	ENST00000323301.4	+	10	1281	c.677A>G	c.(676-678)gAt>gGt	p.D226G	LRSAM1_ENST00000373324.4_Missense_Mutation_p.D226G|LRSAM1_ENST00000300417.6_Missense_Mutation_p.D226G|LRSAM1_ENST00000373322.1_Missense_Mutation_p.D226G|Y_RNA_ENST00000363918.1_RNA	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	226					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGGAGCAAGATGGAATCGAG	0.562																																						dbGAP											0													103.0	87.0	92.0					9																	130236137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.677A>G	9.37:g.130236137A>G	ENSP00000322937:p.Asp226Gly		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.D226G	ENST00000323301.4	37	c.677	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992575	0.54041	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.35421	1.32;1.31;1.32;1.32	5.68	5.68	0.88126	Insulin-like (1);	0.194992	0.53938	D	0.000060	T	0.28433	0.0703	L	0.35723	1.085	0.47407	D	0.999417	B;B	0.27791	0.096;0.189	B;B	0.25506	0.026;0.061	T	0.06935	-1.0799	10	0.26408	T	0.33	-8.5298	12.3651	0.55224	1.0:0.0:0.0:0.0	.	226;226	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	G	226	ENSP00000300417:D226G;ENSP00000362421:D226G;ENSP00000322937:D226G;ENSP00000362419:D226G	ENSP00000300417:D226G	D	+	2	0	LRSAM1	129275958	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	3.859000	0.55987	2.180000	0.69256	0.454000	0.30748	GAT	LRSAM1	-	NULL	ENSG00000148356		0.562	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	67	0.00	0	A	NM_138361		130236137	130236137	+1	no_errors	ENST00000300417	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	1.000	G
LTBP1	4052	genome.wustl.edu	37	2	33622241	33622241	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr2:33622241G>C	ENST00000404816.2	+	33	5229	c.4876G>C	c.(4876-4878)Ggc>Cgc	p.G1626R	LTBP1_ENST00000272273.5_Missense_Mutation_p.G524R|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1300R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1247R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G1301R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1627R|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1245R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1258R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1626	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAGGAATGCGGCATCCTCAA	0.453																																						dbGAP											0													166.0	152.0	157.0					2																	33622241		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4876G>C	2.37:g.33622241G>C	ENSP00000386043:p.Gly1626Arg		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G1627R	ENST00000404816.2	37	c.4879	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	31	5.073690	0.94000	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.49	5.49	0.81192	Matrix fibril-associated (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92348	0.7572	L	0.55743	1.74	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.92294	0.5844	9	0.62326	D	0.03	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	524;1626;1258;1247;1300;1301;1627	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	R	1626;1627;1301;1258;1245;1247;1300;524	ENSP00000386043:G1626R;ENSP00000346467:G1627R;ENSP00000374653:G1301R;ENSP00000393057:G1258R;ENSP00000384373:G1245R;ENSP00000385359:G1247R;ENSP00000384091:G1300R;ENSP00000272273:G524R	ENSP00000272273:G524R	G	+	1	0	LTBP1	33475745	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	GGC	LTBP1	-	superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000049323		0.453	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	69	0.00	0	G	NM_206943		33622241	33622241	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	49	38.27	31	SNP	1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49427744	49427744	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:49427744G>A	ENST00000301067.7	-	39	10743	c.10744C>T	c.(10744-10746)Cgg>Tgg	p.R3582W	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3582	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGCTGTTTCCGGACCTAACAT	0.562																																						dbGAP											0													18.0	17.0	17.0					12																	49427744		2164	4248	6412	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10744C>T	12.37:g.49427744G>A	ENSP00000301067:p.Arg3582Trp		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R3582W	ENST00000301067.7	37	c.10744	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238348	0.39598	.	.	ENSG00000167548	ENST00000301067	T	0.43688	0.94	5.38	5.38	0.77491	.	0.000000	0.33650	N	0.004698	T	0.54078	0.1836	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57648	-0.7775	10	0.87932	D	0	.	18.2915	0.90131	0.0:0.0:1.0:0.0	.	3582	O14686	MLL2_HUMAN	W	3582	ENSP00000301067:R3582W	ENSP00000301067:R3582W	R	-	1	2	MLL2	47714011	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.766000	0.62279	2.711000	0.92665	0.563000	0.77884	CGG	MLL2	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	33	0.00	0	G			49427744	49427744	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	A
MTO1	25821	genome.wustl.edu	37	6	74191938	74191938	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr6:74191938A>T	ENST00000370300.4	+	9	1601	c.1511A>T	c.(1510-1512)gAt>gTt	p.D504V	MTO1_ENST00000415954.2_Missense_Mutation_p.D519V|MTO1_ENST00000370305.1_Missense_Mutation_p.D430V|MTO1_ENST00000498286.1_Missense_Mutation_p.D479V	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	504					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CTGCGCCCTGATAATGCTGAC	0.507																																						dbGAP											0													120.0	93.0	102.0					6																	74191938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1511A>T	6.37:g.74191938A>T	ENSP00000359323:p.Asp504Val		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.D519V	ENST00000370300.4	37	c.1556	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558699	0.86231	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.48	5.48	0.80851	.	0.094954	0.64402	D	0.000001	D	0.89681	0.6785	H	0.98769	4.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.995;0.988	D	0.93819	0.7117	9	0.87932	D	0	-18.3918	15.9017	0.79384	1.0:0.0:0.0:0.0	.	519;382;479;504	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	V	519;479;382;430;504;34	.	ENSP00000350506:D382V	D	+	2	0	MTO1	74248659	1.000000	0.71417	0.989000	0.46669	0.776000	0.43924	8.885000	0.92439	2.218000	0.71995	0.372000	0.22366	GAT	MTO1	-	NULL	ENSG00000135297		0.507	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	83	0.00	0	A	NM_012123		74191938	74191938	+1	no_errors	ENST00000415954	ensembl	human	known	69_37n	missense	44	37.14	26	SNP	1.000	T
MYO18A	399687	genome.wustl.edu	37	17	27493334	27493334	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr17:27493334G>A	ENST00000527372.1	-	2	805	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	MYO18A_ENST00000533112.1_Missense_Mutation_p.P209S|MYO18A_ENST00000354329.4_Missense_Mutation_p.P209S|MYO18A_ENST00000531253.1_Missense_Mutation_p.P209S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	209	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCACCACGGGGGGCAGGCGC	0.667																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													40.0	48.0	46.0					17																	27493334		1944	4126	6070	-	-	-	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.625C>T	17.37:g.27493334G>A	ENSP00000437073:p.Pro209Ser		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.P209S	ENST00000527372.1	37	c.625	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230377	0.22542	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.87966	-2.21;-2.32;-2.21;-2.21	5.21	1.78	0.24846	PDZ/DHR/GLGF (1);	0.476561	0.21905	N	0.067396	T	0.68403	0.2997	N	0.02011	-0.69	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.63883	-0.6536	10	0.66056	D	0.02	.	11.033	0.47785	0.0804:0.4678:0.4519:0.0	.	209;209;209	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	S	209	ENSP00000346291:P209S;ENSP00000435932:P209S;ENSP00000434228:P209S;ENSP00000437073:P209S	ENSP00000346291:P209S	P	-	1	0	MYO18A	24517460	0.004000	0.15560	0.721000	0.30653	0.905000	0.53344	0.124000	0.15728	0.698000	0.31739	0.563000	0.77884	CCC	MYO18A	-	superfamily_PDZ	ENSG00000196535		0.667	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	28	0.00	0	G	NM_078471		27493334	27493334	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	0.171	A
NSMAF	8439	genome.wustl.edu	37	8	59502584	59502584	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr8:59502584G>T	ENST00000038176.3	-	25	2281	c.2069C>A	c.(2068-2070)tCt>tAt	p.S690Y	NSMAF_ENST00000427130.2_Missense_Mutation_p.S721Y	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	690					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATCCCATGAAGAAGTTATGAC	0.398																																						dbGAP											0													115.0	102.0	106.0					8																	59502584		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2069C>A	8.37:g.59502584G>T	ENSP00000038176:p.Ser690Tyr		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S721Y	ENST00000038176.3	37	c.2162	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773823	0.90108	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.32023	1.47;1.47	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.63428	1.95	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.931	T	0.44205	-0.9343	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	721;690	Q92636-2;Q92636	.;FAN_HUMAN	Y	690;721	ENSP00000038176:S690Y;ENSP00000411012:S721Y	.	S	-	2	0	NSMAF	59665138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.019000	0.88732	2.941000	0.99782	0.655000	0.94253	TCT	NSMAF	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000035681		0.398	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	80	0.00	0	G	NM_003580		59502584	59502584	-1	no_errors	ENST00000427130	ensembl	human	known	69_37n	missense	59	15.71	11	SNP	1.000	T
PCF11	51585	genome.wustl.edu	37	11	82877321	82877321	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr11:82877321C>G	ENST00000298281.4	+	5	1834	c.1382C>G	c.(1381-1383)aCa>aGa	p.T461R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	461					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATACAATAACAGAAGAGTCA	0.393																																						dbGAP											0													55.0	52.0	53.0					11																	82877321		1867	4099	5966	-	-	-	SO:0001583	missense	0			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1382C>G	11.37:g.82877321C>G	ENSP00000298281:p.Thr461Arg		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.T461R	ENST00000298281.4	37	c.1382	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318893	0.23994	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46063	1.87;0.89;0.88	6.07	4.22	0.49857	.	0.448580	0.21464	N	0.074118	T	0.29716	0.0742	N	0.24115	0.695	0.21802	N	0.999535	P;B	0.49961	0.93;0.09	B;B	0.41571	0.36;0.069	T	0.05801	-1.0863	9	.	.	.	.	12.8159	0.57665	0.0:0.8685:0.0:0.1315	.	461;461	E9PQ01;O94913	.;PCF11_HUMAN	R	461	ENSP00000298281:T461R;ENSP00000434540:T461R;ENSP00000431567:T461R	.	T	+	2	0	PCF11	82554969	0.005000	0.15991	0.761000	0.31378	0.801000	0.45260	0.799000	0.27028	0.907000	0.36646	-0.140000	0.14226	ACA	PCF11	-	NULL	ENSG00000165494		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	125	0.00	0	C	NM_015885		82877321	82877321	+1	no_errors	ENST00000298281	ensembl	human	known	69_37n	missense	140	16.67	28	SNP	0.362	G
PKD1L1	168507	genome.wustl.edu	37	7	47852858	47852858	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr7:47852858A>T	ENST00000289672.2	-	49	7257	c.7207T>A	c.(7207-7209)Tct>Act	p.S2403T	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2403					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAGGAATAGAGTCTTCGATG	0.537																																						dbGAP											0													83.0	85.0	84.0					7																	47852858		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7207T>A	7.37:g.47852858A>T	ENSP00000289672:p.Ser2403Thr		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.S2403T	ENST00000289672.2	37	c.7207	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	A	9.356	1.066831	0.20067	.	.	ENSG00000158683	ENST00000289672	T	0.18338	2.22	4.89	-7.28	0.01456	.	1.482540	0.04017	N	0.299220	T	0.10294	0.0252	L	0.44542	1.39	0.09310	N	1	B	0.28128	0.201	B	0.23419	0.046	T	0.23440	-1.0188	10	0.14656	T	0.56	-2.487	3.4226	0.07398	0.2551:0.4743:0.1564:0.1142	.	2403	Q8TDX9	PK1L1_HUMAN	T	2403	ENSP00000289672:S2403T	ENSP00000289672:S2403T	S	-	1	0	PKD1L1	47819383	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.163000	0.09997	-1.376000	0.02126	-0.256000	0.11100	TCT	PKD1L1	-	NULL	ENSG00000158683		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	51	0.00	0	A	NM_138295		47852858	47852858	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	25	50.94	27	SNP	0.000	T
PIK3CG	5294	genome.wustl.edu	37	7	106526628	106526628	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr7:106526628G>C	ENST00000359195.3	+	10	3231	c.2921G>C	c.(2920-2922)aGt>aCt	p.S974T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S974T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S974T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	974	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AATTACAAAAGTTTCCTGGGC	0.423																																						dbGAP											0													107.0	104.0	105.0					7																	106526628		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2921G>C	7.37:g.106526628G>C	ENSP00000352121:p.Ser974Thr		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S974T	ENST00000359195.3	37	c.2921	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196601	0.79015	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76060	-0.99;-0.99;-0.99	5.64	5.64	0.86602	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.073437	0.85682	D	0.000000	T	0.69797	0.3151	L	0.35644	1.08	0.80722	D	1	B	0.23316	0.083	B	0.31869	0.137	T	0.62455	-0.6851	10	0.16896	T	0.51	-22.4145	20.0691	0.97712	0.0:0.0:1.0:0.0	.	974	P48736	PK3CG_HUMAN	T	974	ENSP00000392258:S974T;ENSP00000419260:S974T;ENSP00000352121:S974T	ENSP00000352121:S974T	S	+	2	0	PIK3CG	106313864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.676000	0.74498	2.820000	0.97059	0.650000	0.86243	AGT	PIK3CG	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000105851		0.423	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	169	0.00	0	G			106526628	106526628	+1	no_errors	ENST00000359195	ensembl	human	known	69_37n	missense	152	21.65	42	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	73110213	73110213	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr6:73110213G>A	ENST00000521978.1	+	34	4876	c.4876G>A	c.(4876-4878)Gac>Aac	p.D1626N	RIMS1_ENST00000491071.2_Missense_Mutation_p.D1415N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000538414.1_Missense_Mutation_p.D432N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1409N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D760N|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1225N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D751N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1305N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D946N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1409N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D153N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1276N|RIMS1_ENST00000264839.7_Missense_Mutation_p.D1475N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D694N	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1626	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGTCTGGGGAGACTATGGCAG	0.458																																						dbGAP											0													136.0	139.0	138.0					6																	73110213		2142	4277	6419	-	-	-	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4876G>A	6.37:g.73110213G>A	ENSP00000428417:p.Asp1626Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.D1626N	ENST00000521978.1	37	c.4876	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.539934|4.539934	0.85917|0.85917	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.83075|.	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68|.	5.21|5.21	5.21|5.21	0.72293|0.72293	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.68961|0.68961	0.3058|0.3058	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	P;B;D;D;B;D;D;P;D;D;B;D;D|.	0.89917|.	0.837;0.297;0.995;0.996;0.353;1.0;0.978;0.792;0.991;0.978;0.187;0.997;0.996|.	P;P;D;D;B;D;D;P;D;D;B;D;D|.	0.85130|.	0.829;0.472;0.997;0.984;0.229;0.996;0.925;0.75;0.965;0.973;0.22;0.989;0.991|.	T|T	0.67019|0.67019	-0.5776|-0.5776	10|5	0.87932|.	D|.	0|.	-20.8236|-20.8236	19.1289|19.1289	0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	250;432;760;751;1475;946;1225;529;1305;1409;702;1415;1626|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	N|K	1415;1475;1415;1409;1305;1225;1475;1409;1305;1276;1225;1626;946;751;694;760;674;432;153|971	ENSP00000430101:D1415N;ENSP00000275037:D1409N;ENSP00000264839:D1475N;ENSP00000429959:D1409N;ENSP00000430408:D1305N;ENSP00000430502:D1276N;ENSP00000430932:D1225N;ENSP00000428417:D1626N;ENSP00000385649:D946N;ENSP00000428328:D751N;ENSP00000411235:D694N;ENSP00000428367:D760N;ENSP00000359448:D674N;ENSP00000439730:D432N;ENSP00000402273:D153N|.	ENSP00000264839:D1475N|.	D|R	+|+	1|2	0|0	RIMS1|RIMS1	73166934|73166934	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.995000|0.995000	0.86356|0.86356	9.735000|9.735000	0.98825|0.98825	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	GAC|AGA	RIMS1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000079841		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	260	0.38	1	G			73110213	73110213	+1	no_errors	ENST00000521978	ensembl	human	known	69_37n	missense	97	37.82	59	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	104955015	104955015	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr8:104955015A>C	ENST00000436393.2	+	12	2137	c.1896A>C	c.(1894-1896)ttA>ttC	p.L632F	RIMS2_ENST00000507740.1_Missense_Mutation_p.L646F|RIMS2_ENST00000262231.10_Missense_Mutation_p.L693F|RIMS2_ENST00000406091.3_Missense_Mutation_p.L854F			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	916					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAATTGAATTAGAAACAGCAT	0.343										HNSCC(12;0.0054)																												dbGAP											0													64.0	60.0	61.0					8																	104955015		1846	4093	5939	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1896A>C	8.37:g.104955015A>C	ENSP00000390665:p.Leu632Phe		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.L854F	ENST00000436393.2	37	c.2562		8	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593611	0.66219	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.17	4.02	0.46733	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.89431	0.6713	M	0.73962	2.25	0.80722	D	1	D;D;D;P;P;D	0.76494	0.987;0.967;0.995;0.955;0.95;0.999	D;D;D;D;P;D	0.83275	0.932;0.932;0.995;0.955;0.869;0.996	D	0.89288	0.3617	9	0.87932	D	0	.	10.3253	0.43790	0.921:0.0:0.079:0.0	.	916;916;632;693;646;854	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	F	854;869;854;916;646;693;646;646;632	ENSP00000427018:L854F;ENSP00000384892:L854F;ENSP00000425205:L646F;ENSP00000262231:L693F;ENSP00000423559:L646F;ENSP00000386228:L646F;ENSP00000390665:L632F	ENSP00000262231:L693F	L	+	3	2	RIMS2	105024191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.813000	0.38962	0.916000	0.36871	0.482000	0.46254	TTA	RIMS2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000176406		0.343	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	153	0.00	0	A	NM_001100117		104955015	104955015	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	276	12.10	38	SNP	1.000	C
RPL19	6143	genome.wustl.edu	37	17	37358625	37358625	+	Silent	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr17:37358625G>A	ENST00000225430.4	+	3	230	c.168G>A	c.(166-168)acG>acA	p.T56T	RPL19_ENST00000579374.1_Silent_p.T53T|RPL19_ENST00000582193.1_Silent_p.T54T|RPL19_ENST00000579260.1_Silent_p.T54T	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	56					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						AGCCTGTGACGGTCCATTCCC	0.552																																						dbGAP											0													59.0	58.0	59.0					17																	37358625		1905	4110	6015	-	-	-	SO:0001819	synonymous_variant	0				CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.168G>A	17.37:g.37358625G>A			B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Silent	SNP	pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e	p.T56	ENST00000225430.4	37	c.168	CCDS42312.1	17																																																																																			RPL19	-	pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e	ENSG00000108298		0.552	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL19	HGNC	protein_coding	OTTHUMT00000444190.1	46	0.00	0	G	NM_000981		37358625	37358625	+1	no_errors	ENST00000225430	ensembl	human	known	69_37n	silent	51	19.05	12	SNP	0.846	A
SAMD15	161394	genome.wustl.edu	37	14	77844210	77844210	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr14:77844210T>G	ENST00000216471.4	+	1	735	c.449T>G	c.(448-450)tTc>tGc	p.F150C	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	150										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGGATGTGTTCCTAGAGTCA	0.463																																						dbGAP											0													107.0	115.0	112.0					14																	77844210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.449T>G	14.37:g.77844210T>G	ENSP00000216471:p.Phe150Cys		Q2M3P3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.F150C	ENST00000216471.4	37	c.449	CCDS32126.1	14	.	.	.	.	.	.	.	.	.	.	T	12.65	2.000852	0.35320	.	.	ENSG00000100583	ENST00000216471	T	0.18016	2.24	4.27	-3.85	0.04243	.	.	.	.	.	T	0.09512	0.0234	N	0.22421	0.69	0.09310	N	1	P	0.49253	0.921	P	0.44447	0.45	T	0.13072	-1.0523	9	0.38643	T	0.18	21.6957	2.3178	0.04203	0.1332:0.379:0.1356:0.3522	.	150	Q9P1V8	SAM15_HUMAN	C	150	ENSP00000216471:F150C	ENSP00000216471:F150C	F	+	2	0	SAMD15	76913963	0.229000	0.23729	0.000000	0.03702	0.008000	0.06430	-0.130000	0.10498	-0.672000	0.05266	0.454000	0.30748	TTC	SAMD15	-	NULL	ENSG00000100583		0.463	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2	411	0.00	0	T	NM_001010860		77844210	77844210	+1	no_errors	ENST00000216471	ensembl	human	known	69_37n	missense	352	27.72	135	SNP	0.000	G
SFTPD	6441	genome.wustl.edu	37	10	81701721	81701721	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr10:81701721G>C	ENST00000372292.3	-	5	579	c.539C>G	c.(538-540)aCa>aGa	p.T180R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	180	Collagen-like.		T -> A (in dbSNP:rs2243639). {ECO:0000269|PubMed:1339284, ECO:0000269|PubMed:19100526, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGCTGCCCCTGTGTTTCCAGG	0.652																																						dbGAP											0													87.0	82.0	84.0					10																	81701721		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.539C>G	10.37:g.81701721G>C	ENSP00000361366:p.Thr180Arg		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T180R	ENST00000372292.3	37	c.539	CCDS7362.1	10	.	.	.	.	.	.	.	.	.	.	G	7.363	0.625303	0.14257	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.93426	-1.77;-3.22	5.18	4.28	0.50868	.	1.066990	0.07333	N	0.879582	D	0.82912	0.5140	N	0.11000	0.08	0.09310	N	1	P	0.37176	0.586	B	0.27500	0.08	T	0.71101	-0.4690	10	0.10636	T	0.68	-0.1532	9.5741	0.39447	0.0985:0.0:0.9015:0.0	.	180	P35247	SFTPD_HUMAN	R	180;193	ENSP00000361366:T180R;ENSP00000394325:T193R	ENSP00000361366:T180R	T	-	2	0	SFTPD	81691701	0.001000	0.12720	0.070000	0.20053	0.069000	0.16628	0.820000	0.27323	1.180000	0.42898	0.561000	0.74099	ACA	SFTPD	-	pfam_Collagen	ENSG00000133661		0.652	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPD	HGNC	protein_coding	OTTHUMT00000049011.1	56	0.00	0	G			81701721	81701721	-1	no_errors	ENST00000372292	ensembl	human	known	69_37n	missense	32	46.77	29	SNP	0.030	C
SLCO1B7	338821	genome.wustl.edu	37	12	21196298	21196298	+	Missense_Mutation	SNP	G	G	A	rs530012100		TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:21196298G>A	ENST00000421593.2	+	6	617	c.617G>A	c.(616-618)cGt>cAt	p.R206H	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.R253H|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R253H	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGGACTCTCGTTGGGTTGGA	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		16131	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													189.0	193.0	191.0					12																	21196298		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.617G>A	12.37:g.21196298G>A	ENSP00000394168:p.Arg206His		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R253H	ENST00000421593.2	37	c.758	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	14.47	2.545307	0.45280	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.52295	0.67;0.67;0.67	3.03	3.03	0.35002	.	0.108837	0.64402	D	0.000004	T	0.70378	0.3217	M	0.88704	2.975	0.42892	D	0.994207	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76870	-0.2799	10	0.87932	D	0	.	11.3198	0.49415	0.0:0.0:1.0:0.0	.	206;253	G3V0H7;F5H094	.;.	H	253;253;206	ENSP00000370952:R253H;ENSP00000452013:R253H;ENSP00000394168:R206H	ENSP00000370952:R253H	R	+	2	0	SLCO1B7;RP11-545J16.1	21087565	1.000000	0.71417	0.982000	0.44146	0.264000	0.26372	5.443000	0.66581	1.683000	0.51011	0.305000	0.20034	CGT	SLCO1B7	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.358	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	664	0.00	0	G	NM_001009562		21196298	21196298	+1	no_errors	ENST00000554957	ensembl	human	known	69_37n	missense	547	30.37	239	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64519802	64519802	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr12:64519802G>A	ENST00000355086.3	+	19	2794	c.2270G>A	c.(2269-2271)cGg>cAg	p.R757Q	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R734Q|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R694Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	757	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATGTTGGGCGGTCTGCCAGA	0.517																																						dbGAP											0													143.0	121.0	129.0					12																	64519802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2270G>A	12.37:g.64519802G>A	ENSP00000347198:p.Arg757Gln		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R757Q	ENST00000355086.3	37	c.2270	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.636299	0.96693	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.50813	0.73;0.73;0.73	5.69	5.69	0.88448	Src homology-3 domain (4);	0.000000	0.31301	U	0.007896	T	0.54711	0.1875	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.979	T	0.52434	-0.8576	9	.	.	.	.	19.809	0.96540	0.0:0.0:1.0:0.0	.	757;694	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	Q	757;734;694	ENSP00000347198:R757Q;ENSP00000350480:R734Q;ENSP00000437948:R694Q	.	R	+	2	0	SRGAP1	62806069	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.787000	0.99055	2.676000	0.91093	0.561000	0.74099	CGG	SRGAP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000196935		0.517	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	90	0.00	0	G			64519802	64519802	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	1.000	A
TCEANC2	127428	genome.wustl.edu	37	1	54561996	54561996	+	Silent	SNP	G	G	A	rs150858283	byFrequency	TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr1:54561996G>A	ENST00000234827.1	+	5	677	c.477G>A	c.(475-477)acG>acA	p.T159T	TCEANC2_ENST00000371331.1_Silent_p.T189T|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	159	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						AACGGGAAACGTTTCATCTCT	0.458																																						dbGAP											0													80.0	92.0	88.0					1																	54561996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.477G>A	1.37:g.54561996G>A			Q5T702|Q8N8N2	Silent	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub	p.T189	ENST00000234827.1	37	c.567	CCDS587.1	1																																																																																			TCEANC2	-	superfamily_TFIIS_cen_dom	ENSG00000116205		0.458	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEANC2	HGNC	protein_coding	OTTHUMT00000023245.1	142	0.00	0	G	NM_153035		54561996	54561996	+1	no_errors	ENST00000371331	ensembl	human	known	69_37n	silent	72	37.93	44	SNP	1.000	A
TGM1	7051	genome.wustl.edu	37	14	24718579	24718579	+	Silent	SNP	G	G	A	rs201811993	byFrequency	TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr14:24718579G>A	ENST00000206765.6	-	15	2517	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	TGM1_ENST00000544573.1_Silent_p.D356D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	798					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CACCTCCAGCGTCTGAGAAGA	0.602													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18921	0.0		0.001	False		,,,				2504	0.001					dbGAP											0													71.0	68.0	69.0					14																	24718579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.2394C>T	14.37:g.24718579G>A			B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.D798	ENST00000206765.6	37	c.2394	CCDS9622.1	14																																																																																			TGM1	-	NULL	ENSG00000092295		0.602	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	40	0.00	0	G	NM_000359		24718579	24718579	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	silent	17	54.05	20	SNP	0.000	A
THSD7A	221981	genome.wustl.edu	37	7	11521471	11521471	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr7:11521471G>A	ENST00000423059.4	-	7	2212	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	654	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTTCTGTCGTTTTCCCTGA	0.547										HNSCC(18;0.044)																												dbGAP											0													139.0	137.0	138.0					7																	11521471		2134	4245	6379	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1961C>T	7.37:g.11521471G>A	ENSP00000406482:p.Thr654Met			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T654M	ENST00000423059.4	37	c.1961	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216287	0.79352	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59638	0.25	6.17	5.28	0.74379	.	0.042938	0.85682	D	0.000000	T	0.71091	0.3299	L	0.57536	1.79	0.47949	D	0.999556	D	0.58268	0.982	D	0.65140	0.932	T	0.69661	-0.5085	10	0.33940	T	0.23	.	16.8466	0.85982	0.0:0.0:0.8705:0.1295	.	654	Q9UPZ6	THS7A_HUMAN	M	654	ENSP00000406482:T654M	ENSP00000262042:T654M	T	-	2	0	THSD7A	11487996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.077000	0.50089	1.575000	0.49775	0.655000	0.94253	ACG	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.547	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	175	0.00	0	G	XM_928187.2		11521471	11521471	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	177	29.76	75	SNP	1.000	A
TMPRSS13	84000	genome.wustl.edu	37	11	117774452	117774452	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr11:117774452C>G	ENST00000430170.2	-	12	1682	c.1595G>C	c.(1594-1596)gGc>gCc	p.G532A	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G532A|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G532A|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.G497A	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	532	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ACAGCCTGTGCCCCAGCTGGT	0.577																																						dbGAP											0													56.0	62.0	60.0					11																	117774452		1993	4152	6145	-	-	-	SO:0001583	missense	0			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1595G>C	11.37:g.117774452C>G	ENSP00000387702:p.Gly532Ala		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,prints_Peptidase_S1A,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6	p.G532A	ENST00000430170.2	37	c.1595	CCDS58185.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658861	0.88154	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.18	5.18	0.71444	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000020	D	0.85982	0.5824	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89298	0.3624	10	0.87932	D	0	.	18.2937	0.90138	0.0:1.0:0.0:0.0	.	527;527;532	E9PHM4;Q9BYE2;E9PRA0	.;TMPSD_HUMAN;.	A	497;527;532;532;532	ENSP00000435813:G497A;ENSP00000434279:G532A;ENSP00000387702:G532A;ENSP00000394114:G532A	ENSP00000337113:G527A	G	-	2	0	TMPRSS13	117279662	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.406000	0.81754	0.557000	0.71058	GGC	TMPRSS13	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,pfscan_Peptidase_S1_S6	ENSG00000137747		0.577	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	TMPRSS13	HGNC	protein_coding	OTTHUMT00000392318.1	49	0.00	0	C	NM_032046		117774452	117774452	-1	no_errors	ENST00000445164	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	1.000	G
TNFRSF10A	8797	genome.wustl.edu	37	8	23069723	23069723	+	Silent	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr8:23069723G>A	ENST00000221132.3	-	2	373	c.309C>T	c.(307-309)gtC>gtT	p.V103V		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	103					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		AGCTAGGTACGACCTGTGGGG	0.483																																						dbGAP											0													201.0	154.0	170.0					8																	23069723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.309C>T	8.37:g.23069723G>A			A8K5I4|Q53Y72|Q96E62	Silent	SNP	pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.V103	ENST00000221132.3	37	c.309	CCDS6039.1	8																																																																																			TNFRSF10A	-	pirsf_TNFR_10	ENSG00000104689		0.483	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	67	0.00	0	G	NM_003844		23069723	23069723	-1	no_errors	ENST00000221132	ensembl	human	known	69_37n	silent	57	17.39	12	SNP	0.000	A
TRIB2	28951	genome.wustl.edu	37	2	12863563	12863563	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr2:12863563G>A	ENST00000405331.3	+	2	518	c.448G>A	c.(448-450)Gag>Aag	p.E150K	TRIB2_ENST00000381465.2_Missense_Mutation_p.E14K|TRIB2_ENST00000155926.4_Missense_Mutation_p.E150K					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTGAGAGAGGAGGAGGCAGC	0.557																																						dbGAP											0													76.0	71.0	73.0					2																	12863563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.448G>A	2.37:g.12863563G>A	ENSP00000384260:p.Glu150Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E150K	ENST00000405331.3	37	c.448		2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916902	0.92249	.	.	ENSG00000071575	ENST00000155926;ENST00000381465;ENST00000405331	T;T;T	0.65549	-0.16;-0.16;-0.16	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045826	0.85682	D	0.000000	T	0.63498	0.2516	L	0.31804	0.96	0.80722	D	1	P	0.41673	0.759	P	0.49799	0.622	T	0.64914	-0.6295	10	0.51188	T	0.08	-21.9799	18.0564	0.89365	0.0:0.0:1.0:0.0	.	150	Q92519	TRIB2_HUMAN	K	150;14;150	ENSP00000155926:E150K;ENSP00000370874:E14K;ENSP00000384260:E150K	ENSP00000155926:E150K	E	+	1	0	TRIB2	12781014	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.506000	0.84524	0.591000	0.81541	GAG	TRIB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000071575		0.557	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000323585.1	52	0.00	0	G	NM_021643		12863563	12863563	+1	no_errors	ENST00000155926	ensembl	human	known	69_37n	missense	24	47.83	22	SNP	1.000	A
TRAK2	66008	genome.wustl.edu	37	2	202260102	202260102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr2:202260102G>A	ENST00000332624.3	-	8	1263	c.835C>T	c.(835-837)Cga>Tga	p.R279*	TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R279*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	279	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCTTGGTATCGAATCAGCTCA	0.338																																						dbGAP											0													186.0	183.0	184.0					2																	202260102		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.835C>T	2.37:g.202260102G>A	ENSP00000328875:p.Arg279*		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.R279*	ENST00000332624.3	37	c.835	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.364396	0.98238	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	.	.	.	5.74	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3803	0.66907	0.0:0.0:0.5592:0.4408	.	.	.	.	X	279;185;279	.	ENSP00000328875:R279X	R	-	1	2	TRAK2	201968347	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	3.073000	0.50057	0.629000	0.30376	-0.169000	0.13324	CGA	TRAK2	-	pfam_HAP1_N	ENSG00000115993		0.338	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	257	0.00	0	G	NM_015049		202260102	202260102	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	nonsense	209	36.28	119	SNP	1.000	A
WDR20	91833	genome.wustl.edu	37	14	102675570	102675570	+	Silent	SNP	C	C	A	rs575647715		TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr14:102675570C>A	ENST00000342702.3	+	3	1094	c.1063C>A	c.(1063-1065)Cgg>Agg	p.R355R	WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Silent_p.R294R|WDR20_ENST00000556511.2_Silent_p.R294R|WDR20_ENST00000424963.2_Silent_p.R231R|WDR20_ENST00000499851.2_Silent_p.R98R|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Silent_p.R182R|WDR20_ENST00000454394.2_Silent_p.R386R|WDR20_ENST00000335263.5_Silent_p.R355R	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	355										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GCTCTCCAAACGGAACTCTAC	0.507											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													93.0	86.0	89.0					14																	102675570		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1063C>A	14.37:g.102675570C>A		1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R386	ENST00000342702.3	37	c.1156	CCDS9969.1	14	.	.	.	.	.	.	.	.	.	.	C	4.730	0.135798	0.09032	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.56	4.6	0.57074	.	.	.	.	.	T	0.61640	0.2363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58358	-0.7650	4	.	.	.	.	11.1137	0.48247	0.4078:0.5922:0.0:0.0	.	.	.	.	K	285	.	.	T	+	2	0	WDR20	101745323	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.828000	0.62730	2.640000	0.89533	0.655000	0.94253	ACG	WDR20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000140153		0.507	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1	111	0.00	0	C	NM_181291		102675570	102675570	+1	no_errors	ENST00000454394	ensembl	human	known	69_37n	silent	77	20.62	20	SNP	1.000	A
XAGE-4	139629	genome.wustl.edu	37	X	55682832	55682832	+	RNA	SNP	C	C	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chrX:55682832C>T	ENST00000513415.1	-	0	74																											TCCCGACTTTCAGTTGGTGGT	0.468																																						dbGAP											0																																										-	-	-			0																															X.37:g.55682832C>T				RNA	SNP	-	NULL	ENST00000513415.1	37	NULL		X																																																																																			RP11-167P23.2	-	-	ENSG00000169164		0.468	RP11-167P23.2-002	KNOWN	basic	processed_transcript	XAGE-4	Clone_based_vega_gene	pseudogene	OTTHUMT00000367028.1	151	0.00	0	C			55682832	55682832	-1	no_errors	ENST00000513415	ensembl	human	known	69_37n	rna	123	13.99	20	SNP	0.106	T
XPNPEP3	63929	genome.wustl.edu	37	22	41320367	41320367	+	Splice_Site	SNP	C	C	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr22:41320367C>A	ENST00000357137.4	+	9	1322	c.1238C>A	c.(1237-1239)gCt>gAt	p.A413D	XPNPEP3_ENST00000544094.1_Splice_Site_p.A390D	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	413					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTTTCCAGGCTGCTCGAAAA	0.483																																					Ovarian(145;306 1841 7037 21878 30110)	dbGAP											0													201.0	167.0	179.0					22																	41320367		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1237-1C>A	22.37:g.41320367C>A			B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.A413D	ENST00000357137.4	37	c.1238	CCDS14007.1	22	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355437	0.82243	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.78003	-1.14;-1.14	5.05	2.97	0.34412	Peptidase M24, structural domain (3);	0.207467	0.49916	D	0.000122	T	0.81772	0.4893	L	0.42487	1.325	0.58432	D	0.999992	D	0.89917	1.0	D	0.79784	0.993	T	0.80174	-0.1492	10	0.49607	T	0.09	-6.2496	11.1849	0.48650	0.0:0.851:0.0:0.149	.	413	Q9NQH7	XPP3_HUMAN	D	413;390	ENSP00000349658:A413D;ENSP00000441942:A390D	ENSP00000349658:A413D	A	+	2	0	XPNPEP3	39650313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.621000	0.46418	0.644000	0.30656	0.563000	0.77884	GCT	XPNPEP3	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000196236		0.483	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	194	0.00	0	C	NM_022098	Missense_Mutation	41320367	41320367	+1	no_errors	ENST00000357137	ensembl	human	known	69_37n	missense	113	38.92	72	SNP	1.000	A
ZNF135	7694	genome.wustl.edu	37	19	58573061	58573062	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr19:58573061_58573062insG	ENST00000313434.5	+	3	248_249	c.147_148insG	c.(148-150)ctgfs	p.L50fs	ZNF135_ENST00000506786.1_Frame_Shift_Ins_p.L8fs|ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.L62fs|ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.L62fs|ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.L50fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.L50fs	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTTCAGGCTTCTGGTCTCTGT	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		Exception_encountered	19.37:g.58573061_58573062insG	ENSP00000321406:p.Leu50fs		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L61fs	ENST00000313434.5	37	c.183_184		19																																																																																			ZNF135	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000176293		0.525	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	85	0.00	0	-	NM_003436		58573061	58573062	+1	no_errors	ENST00000401053	ensembl	human	known	69_37n	frame_shift_ins	43	18.87	10	INS	0.001:0.007	G
ZNF266	10781	genome.wustl.edu	37	19	9525219	9525219	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr19:9525219G>A	ENST00000592904.1	-	5	2458	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	ZNF266_ENST00000590306.1_Missense_Mutation_p.R128C|ZNF266_ENST00000361151.1_Missense_Mutation_p.R128C|ZNF266_ENST00000361451.2_Missense_Mutation_p.R128C|ZNF266_ENST00000592292.1_Missense_Mutation_p.R128C|ZNF266_ENST00000588221.1_Missense_Mutation_p.R128C|ZNF266_ENST00000588933.1_Missense_Mutation_p.R128C			Q14584	ZN266_HUMAN	zinc finger protein 266	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AATACAGAACGTTGCTCTCCA	0.433																																						dbGAP											0													142.0	132.0	135.0					19																	9525219		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.382C>T	19.37:g.9525219G>A	ENSP00000466714:p.Arg128Cys		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R128C	ENST00000592904.1	37	c.382	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	G	6.127	0.391667	0.11581	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.08102	3.13;3.13	2.32	-4.17	0.03857	.	.	.	.	.	T	0.04815	0.0130	N	0.21097	0.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40136	-0.9579	9	0.87932	D	0	.	4.0903	0.09967	0.4664:0.0:0.3717:0.1618	.	128	Q14584	ZN266_HUMAN	C	128	ENSP00000354680:R128C;ENSP00000355047:R128C	ENSP00000355047:R128C	R	-	1	0	ZNF266	9386219	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.069000	0.30641	-1.014000	0.03379	-0.272000	0.10252	CGT	ZNF266	-	NULL	ENSG00000174652		0.433	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1	429	0.00	0	G			9525219	9525219	-1	no_errors	ENST00000361151	ensembl	human	known	69_37n	missense	289	15.00	51	SNP	0.000	A
ZNF716	441234	genome.wustl.edu	37	7	57528714	57528714	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A8-A076-01A-21W-A019-09	TCGA-A8-A076-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dfa06058-320b-4cc6-ac18-a42e59019b1c	20b982d3-ac52-4a42-8b01-05bc860a6b2b	g.chr7:57528714A>T	ENST00000420713.1	+	4	659	c.547A>T	c.(547-549)Aaa>Taa	p.K183*		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACTGGAAAGAAACATTTCAA	0.338																																						dbGAP											0													76.0	66.0	69.0					7																	57528714		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.547A>T	7.37:g.57528714A>T	ENSP00000394248:p.Lys183*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K183*	ENST00000420713.1	37	c.547	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190712	0.58017	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	.	.	.	X	183;171	.	ENSP00000387687:K171X	K	+	1	0	ZNF716	57532656	0.574000	0.26684	0.090000	0.20809	0.090000	0.18270	1.953000	0.40352	0.257000	0.21650	0.254000	0.18369	AAA	ZNF716	-	pfscan_Znf_C2H2	ENSG00000182111		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	92	0.00	0	A	NM_001159279		57528714	57528714	+1	no_errors	ENST00000420713	ensembl	human	known	69_37n	nonsense	138	23.76	43	SNP	1.000	T
