#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
ADCY9	115	genome.wustl.edu	37	16	4164238	4164239	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr16:4164238_4164239insC	ENST00000294016.3	-	2	1743_1744	c.1205_1206insG	c.(1204-1206)ggcfs	p.G402fs		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	402	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTGGTGAAGCCCACGATATC	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1206dupG	16.37:g.4164241_4164241dupC	ENSP00000294016:p.Gly402fs		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Frame_Shift_Ins	INS	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F403fs	ENST00000294016.3	37	c.1206_1205	CCDS32382.1	16																																																																																			ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000162104		0.500	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	28	0.00	0	-			4164238	4164239	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	frame_shift_ins	23	73.56	64	INS	0.990:1.000	C
AEN	64782	genome.wustl.edu	37	15	89169685	89169687	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	AGT	AGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr15:89169685_89169687delAGT	ENST00000332810.3	+	2	396_398	c.245_247delAGT	c.(244-249)cagtgt>cgt	p.82_83QC>R	AEN_ENST00000379231.3_In_Frame_Del_p.82_83QC>R	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	82					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AGTGGGAAGCAGTGTCTGAGGGC	0.64																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.245_247delAGT	15.37:g.89169685_89169687delAGT	ENSP00000331944:p.Gln82_Cys83delinsArg		C9J571|Q9BSA5|Q9H9X7	In_Frame_Del	DEL	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.QC82in_frame_delR	ENST00000332810.3	37	c.245_247	CCDS10344.1	15																																																																																			AEN	-	NULL	ENSG00000181026		0.640	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1	8	0.00	0	AGT	NM_022767		89169685	89169687	+1	no_errors	ENST00000379231	ensembl	human	known	69_37n	in_frame_del	9	43.75	7	DEL	0.002:0.000:0.000	-
BAHD1	22893	genome.wustl.edu	37	15	40750982	40750982	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr15:40750982G>A	ENST00000416165.1	+	2	390	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	BAHD1_ENST00000560846.1_Missense_Mutation_p.E107K|BAHD1_ENST00000561234.1_Missense_Mutation_p.E107K	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	107					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCATCCAGTGAAGACCCTGG	0.662																																						dbGAP											0													23.0	30.0	27.0					15																	40750982		2197	4290	6487	-	-	-	SO:0001583	missense	0			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.319G>A	15.37:g.40750982G>A	ENSP00000396976:p.Glu107Lys		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E107K	ENST00000416165.1	37	c.319	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930256	0.34096	.	.	ENSG00000140320	ENST00000416165	T	0.17854	2.25	5.29	5.29	0.74685	.	0.139679	0.47093	D	0.000260	T	0.08802	0.0218	N	0.08118	0	0.28195	N	0.927575	B;B;B	0.20550	0.046;0.027;0.046	B;B;B	0.17722	0.019;0.008;0.019	T	0.12993	-1.0526	10	0.36615	T	0.2	-23.3619	9.6946	0.40150	0.152:0.0:0.848:0.0	.	107;107;107	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	K	107	ENSP00000396976:E107K	ENSP00000396976:E107K	E	+	1	0	BAHD1	38538274	1.000000	0.71417	0.834000	0.33040	0.513000	0.34164	2.749000	0.47492	2.746000	0.94184	0.650000	0.86243	GAA	BAHD1	-	NULL	ENSG00000140320		0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	23	0.00	0	G	NM_014952		40750982	40750982	+1	no_errors	ENST00000416165	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.607	A
C4orf3	401152	genome.wustl.edu	37	4	120221825	120221825	+	5'UTR	SNP	A	A	C			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr4:120221825A>C	ENST00000504110.1	-	0	251				C4orf3_ENST00000399075.4_Missense_Mutation_p.C89G	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						TCCGGAATGCACTCTGAACCT	0.657																																						dbGAP											0													24.0	26.0	25.0					4																	120221825		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-135T>G	4.37:g.120221825A>C			Q6J203	Missense_Mutation	SNP	NULL	p.C89G	ENST00000504110.1	37	c.265	CCDS43266.1	4	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219212	0.39201	.	.	ENSG00000164096	ENST00000399075	T	0.37235	1.21	3.51	-7.02	0.01589	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.40156	-0.9578	5	0.87932	D	0	.	4.6565	0.12620	0.1395:0.4226:0.3366:0.1013	.	.	.	.	G	89	ENSP00000382026:C89G	ENSP00000382026:C89G	C	-	1	0	C4orf3	120441273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.645000	0.00861	-3.278000	0.00198	-0.418000	0.06021	TGC	C4orf3	-	NULL	ENSG00000164096		0.657	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	16	0.00	0	A	NM_001001701		120221825	120221825	-1	no_errors	ENST00000399075	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.000	C
CD5L	922	genome.wustl.edu	37	1	157803094	157803094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr1:157803094C>T	ENST00000368174.4	-	5	1023	c.927G>A	c.(925-927)tgG>tgA	p.W309*	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	309	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATTATCCAGCCAGATGCGGC	0.587																																						dbGAP											0													100.0	100.0	100.0					1																	157803094		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.927G>A	1.37:g.157803094C>T	ENSP00000357156:p.Trp309*		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.W309*	ENST00000368174.4	37	c.927	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.969889	0.97156	.	.	ENSG00000073754	ENST00000368174	.	.	.	5.06	4.15	0.48705	.	0.193092	0.36665	N	0.002480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.858	0.46810	0.0:0.9091:0.0:0.0908	.	.	.	.	X	309	.	ENSP00000357156:W309X	W	-	3	0	CD5L	156069718	0.993000	0.37304	1.000000	0.80357	0.983000	0.72400	2.190000	0.42630	1.347000	0.45714	0.655000	0.94253	TGG	CD5L	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000073754		0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	132	0.00	0	C	NM_005894		157803094	157803094	-1	no_errors	ENST00000368174	ensembl	human	known	69_37n	nonsense	187	14.61	32	SNP	1.000	T
COL4A4	1286	genome.wustl.edu	37	2	227872899	227872899	+	Silent	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr2:227872899G>A	ENST00000396625.3	-	47	4851	c.4644C>T	c.(4642-4644)ccC>ccT	p.P1548P	COL4A4_ENST00000329662.7_Silent_p.P1545P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1548	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGGGGAGGGGCGCAGCGC	0.642																																						dbGAP											0													42.0	50.0	47.0					2																	227872899		2115	4213	6328	-	-	-	SO:0001819	synonymous_variant	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4644C>T	2.37:g.227872899G>A			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1548	ENST00000396625.3	37	c.4644	CCDS42828.1	2																																																																																			COL4A4	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000081052		0.642	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	23	0.00	0	G	NM_000092		227872899	227872899	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	0.004	A
COL4A4	1286	genome.wustl.edu	37	2	227924177	227924177	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr2:227924177G>A	ENST00000396625.3	-	28	2534	c.2327C>T	c.(2326-2328)tCa>tTa	p.S776L	COL4A4_ENST00000329662.7_Missense_Mutation_p.S776L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	776	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCACTCCTGAAAGACCCCT	0.597																																						dbGAP											0													125.0	132.0	130.0					2																	227924177		1855	4080	5935	-	-	-	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2327C>T	2.37:g.227924177G>A	ENSP00000379866:p.Ser776Leu		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S776L	ENST00000396625.3	37	c.2327	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042086	0.75732	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93426	-3.22;-3.22	5.99	5.12	0.69794	.	.	.	.	.	D	0.89196	0.6646	L	0.31120	0.905	0.24063	N	0.996009	B	0.06786	0.001	B	0.06405	0.002	T	0.81037	-0.1114	9	0.52906	T	0.07	.	13.4812	0.61336	0.0728:0.0:0.9272:0.0	.	776	P53420	CO4A4_HUMAN	L	776	ENSP00000379866:S776L;ENSP00000328553:S776L	ENSP00000328553:S776L	S	-	2	0	COL4A4	227632421	0.962000	0.33011	0.185000	0.23176	0.814000	0.46013	3.495000	0.53280	1.544000	0.49359	0.655000	0.94253	TCA	COL4A4	-	NULL	ENSG00000081052		0.597	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	193	0.00	0	G	NM_000092		227924177	227924177	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	missense	136	20.00	34	SNP	0.938	A
CUX2	23316	genome.wustl.edu	37	12	111746104	111746104	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr12:111746104G>A	ENST00000261726.6	+	13	1279	c.1125G>A	c.(1123-1125)atG>atA	p.M375I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	375					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGAAAGCCATGAAGCTGGCCT	0.652																																						dbGAP											0													73.0	78.0	76.0					12																	111746104		2014	4191	6205	-	-	-	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1125G>A	12.37:g.111746104G>A	ENSP00000261726:p.Met375Ile		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.M375I	ENST00000261726.6	37	c.1125	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522022	0.64747	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	5.04	5.04	0.67666	.	0.218497	0.52532	D	0.000069	T	0.36441	0.0967	L	0.55743	1.74	0.58432	D	0.999991	P	0.35844	0.524	B	0.31946	0.138	T	0.24297	-1.0164	10	0.07990	T	0.79	-32.6981	17.9881	0.89160	0.0:0.0:1.0:0.0	.	375	O14529	CUX2_HUMAN	I	375	ENSP00000261726:M375I	ENSP00000261726:M375I	M	+	3	0	CUX2	110230487	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.883000	0.92426	2.344000	0.79699	0.313000	0.20887	ATG	CUX2	-	NULL	ENSG00000111249		0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	62	0.00	0	G	NM_015267		111746104	111746104	+1	no_errors	ENST00000261726	ensembl	human	known	69_37n	missense	106	45.64	89	SNP	1.000	A
ELAC2	60528	genome.wustl.edu	37	17	12898137	12898137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:12898137delC	ENST00000338034.4	-	21	2212	c.1973delG	c.(1972-1974)ggcfs	p.G658fs	ELAC2_ENST00000395962.2_Frame_Shift_Del_p.G639fs|ELAC2_ENST00000426905.3_Frame_Shift_Del_p.G618fs	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	658					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CACTTTCCAGCCAGAGGTGTG	0.612																																						dbGAP											0													53.0	55.0	54.0					17																	12898137		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1973delG	17.37:g.12898137delC	ENSP00000337445:p.Gly658fs		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Frame_Shift_Del	DEL	pfam_Beta-lactamas-like	p.G658fs	ENST00000338034.4	37	c.1973	CCDS11164.1	17																																																																																			ELAC2	-	pfam_Beta-lactamas-like	ENSG00000006744		0.612	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	72	0.00	0	C			12898137	12898137	-1	no_errors	ENST00000338034	ensembl	human	known	69_37n	frame_shift_del	73	49.66	72	DEL	1.000	-
ELAC2	60528	genome.wustl.edu	37	17	12898144	12898144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:12898144delT	ENST00000338034.4	-	21	2205	c.1966delA	c.(1966-1968)accfs	p.T656fs	ELAC2_ENST00000395962.2_Frame_Shift_Del_p.T637fs|ELAC2_ENST00000426905.3_Frame_Shift_Del_p.T616fs	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	656					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CAGCCAGAGGTGTGCACCAGC	0.612																																						dbGAP											0													56.0	58.0	57.0					17																	12898144		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1966delA	17.37:g.12898144delT	ENSP00000337445:p.Thr656fs		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Frame_Shift_Del	DEL	pfam_Beta-lactamas-like	p.T656fs	ENST00000338034.4	37	c.1966	CCDS11164.1	17																																																																																			ELAC2	-	pfam_Beta-lactamas-like	ENSG00000006744		0.612	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	77	0.00	0	T			12898144	12898144	-1	no_errors	ENST00000338034	ensembl	human	known	69_37n	frame_shift_del	75	50.00	77	DEL	0.421	-
EPB42	2038	genome.wustl.edu	37	15	43500959	43500959	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr15:43500959C>G	ENST00000441366.2	-	7	1072	c.847G>C	c.(847-849)Gga>Cga	p.G283R	EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000540029.1_Missense_Mutation_p.G205R|EPB42_ENST00000300215.3_Missense_Mutation_p.G313R	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	283					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GCAGGGATTCCCAGGCATCGC	0.602																																						dbGAP											0													44.0	45.0	44.0					15																	43500959		2203	4299	6502	-	-	-	SO:0001583	missense	0			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.847G>C	15.37:g.43500959C>G	ENSP00000396616:p.Gly283Arg		Q4KKX0|Q4VB97	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G313R	ENST00000441366.2	37	c.937	CCDS45249.1	15	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307253	0.60305	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.89343	-2.5;-2.5;-2.5	5.15	5.15	0.70609	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	H	0.95079	3.62	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97101	0.9797	10	0.87932	D	0	-18.5745	16.1656	0.81754	0.0:1.0:0.0:0.0	.	205;283;313;283	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	R	313;205;283;283	ENSP00000300215:G313R;ENSP00000444699:G205R;ENSP00000396616:G283R	ENSP00000300215:G313R	G	-	1	0	EPB42	41288251	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	6.237000	0.72345	2.677000	0.91161	0.561000	0.74099	GGA	EPB42	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000166947		0.602	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB42	HGNC	protein_coding	OTTHUMT00000432219.1	56	0.00	0	C	NM_000119		43500959	43500959	-1	no_errors	ENST00000300215	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	G
F10	2159	genome.wustl.edu	37	13	113803265	113803265	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr13:113803265G>A	ENST00000375559.3	+	8	939	c.901G>A	c.(901-903)Gcg>Acg	p.A301T	F10_ENST00000375551.3_Silent_p.R297R|F10_ENST00000409306.1_Silent_p.R299R	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	301	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGCGGTGAGGCGGTGCACGA	0.612																																						dbGAP											0													176.0	145.0	155.0					13																	113803265		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.901G>A	13.37:g.113803265G>A	ENSP00000364709:p.Ala301Thr		Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.A301T	ENST00000375559.3	37	c.901	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	G	0.816	-0.750225	0.03041	.	.	ENSG00000126218	ENST00000375559	D	0.88664	-2.41	4.99	-3.27	0.05048	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.649587	0.16076	N	0.230771	T	0.65015	0.2651	N	0.02111	-0.68	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.59920	-0.7363	10	0.13470	T	0.59	.	6.8834	0.24187	0.3103:0.0:0.4834:0.2063	.	301	P00742	FA10_HUMAN	T	301	ENSP00000364709:A301T	ENSP00000364709:A301T	A	+	1	0	F10	112851266	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.039000	0.12124	-0.337000	0.08426	-0.657000	0.03884	GCG	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000126218		0.612	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	14	0.00	0	G			113803265	113803265	+1	no_errors	ENST00000375559	ensembl	human	known	69_37n	missense	22	54.17	26	SNP	0.000	A
FAH	2184	genome.wustl.edu	37	15	80445398	80445399	+	Start_Codon_Ins	INS	-	-	G			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr15:80445398_80445399insG	ENST00000407106.1	+	0	157_158				FAH_ENST00000539156.1_5'Flank|FAH_ENST00000261755.5_Start_Codon_Ins|FAH_ENST00000561421.1_Start_Codon_Ins			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)						arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTTCAGCATGTCCTTCATCC	0.683									Tyrosinemia, type 1																													dbGAP											0																																										-	-	-	SO:0001582	initiator_codon_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.3dupG	15.37:g.80445399_80445399dupG			B2R9X1|D3DW95|Q53XA7	Frame_Shift_Ins	INS	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.S2fs	ENST00000407106.1	37	c.2_3	CCDS10314.1	15																																																																																			FAH	-	superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	ENSG00000103876		0.683	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	25	0.00	0	-			80445398	80445399	+1	no_errors	ENST00000261755	ensembl	human	known	69_37n	frame_shift_ins	11	26.67	4	INS	1.000:1.000	G
FAM167B	84734	genome.wustl.edu	37	1	32713099	32713099	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr1:32713099C>T	ENST00000373582.3	+	1	266	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	26										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						AGCCTGGACTCTGTGAAGGCA	0.622																																						dbGAP											0													50.0	61.0	58.0					1																	32713099		2054	4204	6258	-	-	-	SO:0001583	missense	0			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.77C>T	1.37:g.32713099C>T	ENSP00000362684:p.Ser26Phe		Q5TDH6	Missense_Mutation	SNP	pfam_FAM167	p.S26F	ENST00000373582.3	37	c.77	CCDS358.2	1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.067682	0.76301	.	.	ENSG00000183615	ENST00000373582	T	0.34472	1.36	5.64	3.67	0.42095	.	0.270973	0.32401	U	0.006141	T	0.51822	0.1697	M	0.72894	2.215	0.48288	D	0.999621	D	0.64830	0.994	P	0.60173	0.87	T	0.54132	-0.8339	10	0.87932	D	0	13.3008	10.8855	0.46964	0.1168:0.673:0.2102:0.0	.	26	Q9BTA0	F167B_HUMAN	F	26	ENSP00000362684:S26F	ENSP00000362684:S26F	S	+	2	0	FAM167B	32485686	0.984000	0.35163	0.999000	0.59377	0.984000	0.73092	1.832000	0.39151	2.831000	0.97527	0.655000	0.94253	TCT	FAM167B	-	NULL	ENSG00000183615		0.622	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM167B	HGNC	protein_coding	OTTHUMT00000019615.2	39	0.00	0	C	NM_032648		32713099	32713099	+1	no_errors	ENST00000373582	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.999	T
FGGY	55277	genome.wustl.edu	37	1	60103948	60103948	+	Silent	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr1:60103948G>A	ENST00000303721.7	+	11	1296	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	FGGY_ENST00000371218.4_Silent_p.K374K|FGGY_ENST00000371210.1_Silent_p.K75K|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Silent_p.K286K	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	374					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ATCTGATTAAGAAGGCTCAGC	0.443																																						dbGAP											0													181.0	170.0	174.0					1																	60103948		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1122G>A	1.37:g.60103948G>A			B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.K374	ENST00000303721.7	37	c.1122	CCDS611.2	1																																																																																			FGGY	-	pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.443	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	304	0.33	1	G	NM_001113411		60103948	60103948	+1	no_errors	ENST00000303721	ensembl	human	known	69_37n	silent	319	22.38	92	SNP	1.000	A
GPR142	350383	genome.wustl.edu	37	17	72367989	72367989	+	Frame_Shift_Del	DEL	G	G	-	rs140126959	byFrequency	TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:72367989delG	ENST00000335666.4	+	4	687	c.639delG	c.(637-639)gcgfs	p.A213fs		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	213						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCGTGTTCGCGGGCTTCCTCC	0.647																																						dbGAP											0													81.0	65.0	70.0					17																	72367989		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.639delG	17.37:g.72367989delG	ENSP00000335158:p.Ala213fs		A4CYJ8|Q86SL3	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.G214fs	ENST00000335666.4	37	c.639	CCDS11698.1	17																																																																																			GPR142	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000257008		0.647	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	11	0.00	0	G	NM_181790		72367989	72367989	+1	no_errors	ENST00000335666	ensembl	human	known	69_37n	frame_shift_del	9	57.14	12	DEL	1.000	-
GRIP2	80852	genome.wustl.edu	37	3	14559282	14559282	+	RNA	SNP	C	C	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr3:14559282C>T	ENST00000273083.3	-	0	1218							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CACATTACATCGGCTTTGGTC	0.642																																						dbGAP											0													20.0	25.0	23.0					3																	14559282		2032	4169	6201	-	-	-			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14559282C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.642	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	10	0.00	0	C	NM_001080423		14559282	14559282	-1	no_errors	ENST00000273083	ensembl	human	known	69_37n	rna	18	21.74	5	SNP	1.000	T
HOXA11	3207	genome.wustl.edu	37	7	27224568	27224569	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr7:27224568_27224569insA	ENST00000006015.3	-	1	266_267	c.195_196insT	c.(193-198)tacgccfs	p.A66fs	HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000479766.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	66					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GGCTCAATGGCGTACTCTCTGA	0.639			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.195_196insT	7.37:g.27224568_27224569insA	ENSP00000006015:p.Ala66fs	792	A4D190	Frame_Shift_Ins	INS	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.A65fs	ENST00000006015.3	37	c.196_195	CCDS5411.1	7																																																																																			HOXA11	-	pfam_DUF3528	ENSG00000005073		0.639	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	HGNC	protein_coding	OTTHUMT00000358754.1	9	0.00	0	-			27224568	27224569	-1	no_errors	ENST00000006015	ensembl	human	known	69_37n	frame_shift_ins	8	38.46	5	INS	1.000:1.000	A
INPPL1	3636	genome.wustl.edu	37	11	71948208	71948209	+	Frame_Shift_Ins	INS	-	-	C	rs561416155		TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr11:71948208_71948209insC	ENST00000298229.2	+	26	3124_3125	c.2920_2921insC	c.(2920-2922)gccfs	p.A974fs	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.A732fs|INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.A732fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2927dupC	11.37:g.71948215_71948215dupC	ENSP00000298229:p.Ala974fs		B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.P977fs	ENST00000298229.2	37	c.2920_2921	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.634	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	64	0.00	0	-	NM_001567		71948208	71948209	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	frame_shift_ins	18	18.18	4	INS	0.025:0.066	C
KIF26B	55083	genome.wustl.edu	37	1	245582913	245582913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr1:245582913delG	ENST00000407071.2	+	4	1472	c.1032delG	c.(1030-1032)gagfs	p.E344fs		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	344					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTAGCCGGGAGGGACTAACAG	0.557																																						dbGAP											0													49.0	52.0	51.0					1																	245582913		1976	4148	6124	-	-	-	SO:0001589	frameshift_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1032delG	1.37:g.245582913delG	ENSP00000385545:p.Glu344fs		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G345fs	ENST00000407071.2	37	c.1032	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.557	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	126	0.00	0	G	XM_371354		245582913	245582913	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	frame_shift_del	90	47.37	81	DEL	0.997	-
KLF11	8462	genome.wustl.edu	37	2	10192628	10192628	+	Silent	SNP	T	T	G			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr2:10192628T>G	ENST00000305883.1	+	4	1695	c.1533T>G	c.(1531-1533)tcT>tcG	p.S511S	KLF11_ENST00000535335.1_Silent_p.S494S|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000540845.1_Silent_p.S494S	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	511					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGCCAGCCTCTGCCTGAAAGG	0.537																																					Melanoma(56;431 1507 23687 50789)	dbGAP											0													22.0	24.0	23.0					2																	10192628		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1533T>G	2.37:g.10192628T>G			B4DZE7|Q9EPF4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S511	ENST00000305883.1	37	c.1533	CCDS1668.1	2																																																																																			KLF11	-	NULL	ENSG00000172059		0.537	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3	22	0.00	0	T	NM_003597		10192628	10192628	+1	no_errors	ENST00000305883	ensembl	human	known	69_37n	silent	24	29.41	10	SNP	0.005	G
MAGED2	10916	genome.wustl.edu	37	X	54841170	54841170	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chrX:54841170G>A	ENST00000375068.1	+	11	1581	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	MAGED2_ENST00000396224.1_Missense_Mutation_p.E450K|MAGED2_ENST00000375060.1_Missense_Mutation_p.E365K|MAGED2_ENST00000347546.4_Missense_Mutation_p.E432K|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.E450K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E450K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E365K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E450K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	450	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CTCTTACTATGAGACCAGCAA	0.527																																						dbGAP											0													74.0	63.0	67.0					X																	54841170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1348G>A	X.37:g.54841170G>A	ENSP00000364209:p.Glu450Lys		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E450K	ENST00000375068.1	37	c.1348	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200153	0.79015	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.32	4.32	0.51571	.	0.000000	0.44097	D	0.000499	T	0.60183	0.2249	M	0.92077	3.27	0.48975	D	0.999737	P;P	0.51351	0.938;0.944	P;D	0.70227	0.895;0.968	T	0.71912	-0.4449	10	0.87932	D	0	.	15.4511	0.75274	0.0:0.0:1.0:0.0	.	365;450	Q5H907;Q9UNF1	.;MAGD2_HUMAN	K	450;450;394;432;365;450;450;365;450	ENSP00000364209:E450K;ENSP00000364193:E450K;ENSP00000336962:E394K;ENSP00000340290:E432K;ENSP00000364202:E365K;ENSP00000218439:E450K;ENSP00000364198:E450K;ENSP00000364200:E365K;ENSP00000379526:E450K	ENSP00000218439:E450K	E	+	1	0	MAGED2	54857895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.710000	0.74670	2.090000	0.63153	0.513000	0.50165	GAG	MAGED2	-	pfam_MAGE,pfscan_MAGE	ENSG00000102316		0.527	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	139	0.00	0	G	NM_014599		54841170	54841170	+1	no_errors	ENST00000218439	ensembl	human	known	69_37n	missense	146	15.12	26	SNP	1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56178411	56178411	+	Silent	SNP	C	C	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr5:56178411C>T	ENST00000399503.3	+	14	3384	c.3384C>T	c.(3382-3384)ctC>ctT	p.L1128L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1128					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATACAGAGCTCAACTCCAGTA	0.433																																						dbGAP											0													118.0	114.0	115.0					5																	56178411		1952	4152	6104	-	-	-	SO:0001819	synonymous_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3384C>T	5.37:g.56178411C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L1128	ENST00000399503.3	37	c.3384	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.433	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	175	0.00	0	C	XM_042066		56178411	56178411	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	silent	177	13.66	28	SNP	1.000	T
MAST1	22983	genome.wustl.edu	37	19	12979921	12979921	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr19:12979921C>A	ENST00000251472.4	+	22	2854	c.2815C>A	c.(2815-2817)Cca>Aca	p.P939T		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCATGTCTCCACGATCTCT	0.557																																						dbGAP											0													146.0	103.0	117.0					19																	12979921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2815C>A	19.37:g.12979921C>A	ENSP00000251472:p.Pro939Thr			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.P939T	ENST00000251472.4	37	c.2815	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667993	0.88348	.	.	ENSG00000105613	ENST00000251472	T	0.69435	-0.4	5.01	5.01	0.66863	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.84082	2.675	0.58432	D	0.999997	D	0.76494	0.999	D	0.70935	0.971	D	0.85354	0.1103	10	0.72032	D	0.01	-12.5144	15.805	0.78491	0.0:1.0:0.0:0.0	.	939	Q9Y2H9	MAST1_HUMAN	T	939	ENSP00000251472:P939T	ENSP00000251472:P939T	P	+	1	0	MAST1	12840921	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.757000	0.85209	2.327000	0.79052	0.462000	0.41574	CCA	MAST1	-	superfamily_PDZ	ENSG00000105613		0.557	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	45	0.00	0	C	NM_014975		12979921	12979921	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	missense	90	10.89	11	SNP	1.000	A
MEFV	4210	genome.wustl.edu	37	16	3304386	3304386	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr16:3304386G>C	ENST00000219596.1	-	2	721	c.682C>G	c.(682-684)Ccc>Gcc	p.P228A	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	228					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACTTCGAAGGGCCTGCACTCC	0.662																																						dbGAP											0													40.0	44.0	43.0					16																	3304386		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.682C>G	16.37:g.3304386G>C	ENSP00000219596:p.Pro228Ala		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.P228A	ENST00000219596.1	37	c.682	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	G	3.025	-0.200934	0.06219	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.61980	0.06	4.41	-0.86	0.10680	.	1.137010	0.06539	N	0.742917	T	0.32071	0.0817	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	10	0.15066	T	0.55	-33.3748	4.1607	0.10282	0.0:0.2477:0.3697:0.3826	.	228	O15553	MEFV_HUMAN	A	228	ENSP00000219596:P228A	ENSP00000219596:P228A	P	-	1	0	MEFV	3244387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.233000	0.09041	-0.170000	0.10816	-1.041000	0.02371	CCC	MEFV	-	NULL	ENSG00000103313		0.662	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	26	0.00	0	G	NM_000243		3304386	3304386	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	missense	11	68.42	26	SNP	0.000	C
MEFV	4210	genome.wustl.edu	37	16	3304392	3304392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr16:3304392delA	ENST00000219596.1	-	2	715	c.676delT	c.(676-678)tgcfs	p.C226fs	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	226					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AAGGGCCTGCACTCCTTCTGC	0.672																																						dbGAP											0													33.0	37.0	36.0					16																	3304392		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.676delT	16.37:g.3304392delA	ENSP00000219596:p.Cys226fs		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Frame_Shift_Del	DEL	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.C226fs	ENST00000219596.1	37	c.676	CCDS10498.1	16																																																																																			MEFV	-	NULL	ENSG00000103313		0.672	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	22	0.00	0	A	NM_000243		3304392	3304392	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	frame_shift_del	9	64.29	18	DEL	0.000	-
MKI67	4288	genome.wustl.edu	37	10	129914073	129914073	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr10:129914073G>A	ENST00000368654.3	-	7	974	c.599C>T	c.(598-600)tCt>tTt	p.S200F	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	200					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAAATCCCCAGAAATGGGATC	0.403																																						dbGAP											0													114.0	112.0	113.0					10																	129914073		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.599C>T	10.37:g.129914073G>A	ENSP00000357643:p.Ser200Phe		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S200F	ENST00000368654.3	37	c.599	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550028	0.45383	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.24350	1.86	3.69	-0.429	0.12303	.	1.153990	0.06613	N	0.755894	T	0.25938	0.0632	N	0.24115	0.695	0.09310	N	1	D	0.56521	0.976	P	0.53809	0.735	T	0.34254	-0.9836	9	.	.	.	.	8.2908	0.31956	0.0903:0.4533:0.4565:0.0	.	200	P46013	KI67_HUMAN	F	200	ENSP00000357643:S200F	.	S	-	2	0	MKI67	129804063	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.490000	0.22403	-0.059000	0.13154	-0.176000	0.13171	TCT	MKI67	-	NULL	ENSG00000148773		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	99	0.00	0	G	NM_002417		129914073	129914073	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	92	29.23	38	SNP	0.000	A
KMT2B	9757	genome.wustl.edu	37	19	36216136	36216136	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr19:36216136G>A	ENST00000222270.7	+	11	3544	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	KMT2B_ENST00000420124.1_Missense_Mutation_p.E1182K|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1182					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTGTGATTTAGAGAACGTGTG	0.602																																						dbGAP											0													27.0	31.0	30.0					19																	36216136		1994	4155	6149	-	-	-	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3544G>A	19.37:g.36216136G>A	ENSP00000222270:p.Glu1182Lys		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC	p.E1182K	ENST00000222270.7	37	c.3544	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603789	0.46423	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.90676	-2.71;-2.71	5.54	4.5	0.54988	.	0.000000	0.45126	D	0.000382	D	0.85957	0.5818	L	0.34521	1.04	0.48696	D	0.999697	B	0.30851	0.297	B	0.31390	0.129	D	0.85601	0.1252	10	0.72032	D	0.01	.	14.0081	0.64478	0.0:0.2886:0.7114:0.0	.	1182	Q9UMN6	MLL4_HUMAN	K	1182	ENSP00000222270:E1182K;ENSP00000398837:E1182K	ENSP00000222270:E1182K	E	+	1	0	AD000671.1	40907976	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.043000	0.57354	1.554000	0.49487	0.655000	0.94253	GAG	MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		20	0.00	0	G	NM_014727		36216136	36216136	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	missense	15	50.00	15	SNP	1.000	A
MUC20P1	651714	genome.wustl.edu	37	3	195346862	195346862	+	IGR	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr3:195346862G>A								APOD (35786 upstream) : RP11-141C7.4 (19998 downstream)																							ACAGCCCCTTGGAAGCCGCCC	0.592																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															3.37:g.195346862G>A				Silent	SNP	NULL	p.L388		37	c.1164		3																																																																																			MUC20	-	NULL	ENSG00000176945	0	0.592					MUC20	HGNC			42	0.00	0	G			195346862	195346862	+1	no_errors	ENST00000381954	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	0.001	A
MYBPC1	4604	genome.wustl.edu	37	12	102040637	102040637	+	Silent	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr12:102040637G>A	ENST00000550270.1	+	11	987	c.987G>A	c.(985-987)gaG>gaA	p.E329E	MYBPC1_ENST00000441232.1_Silent_p.E329E|MYBPC1_ENST00000360610.2_Silent_p.E329E|MYBPC1_ENST00000549145.1_Silent_p.E342E|MYBPC1_ENST00000361685.2_Silent_p.E354E|MYBPC1_ENST00000547405.1_Silent_p.E303E|MYBPC1_ENST00000541119.1_Silent_p.E317E|MYBPC1_ENST00000545503.2_Silent_p.E329E|MYBPC1_ENST00000361466.2_Silent_p.E354E|MYBPC1_ENST00000551300.1_Silent_p.E230E|MYBPC1_ENST00000553190.1_Silent_p.E329E|MYBPC1_ENST00000392934.3_Silent_p.E316E|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Silent_p.E315E|MYBPC1_ENST00000452455.2_Silent_p.E329E|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000536007.1_Silent_p.E310E|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	329	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCGGTGATGAGAAATGTTCCA	0.408																																						dbGAP											0													116.0	110.0	112.0					12																	102040637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.987G>A	12.37:g.102040637G>A			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E354	ENST00000550270.1	37	c.1062	CCDS9085.1	12																																																																																			MYBPC1	-	smart_Ig_sub	ENSG00000196091		0.408	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	88	0.00	0	G			102040637	102040637	+1	no_errors	ENST00000361466	ensembl	human	known	69_37n	silent	78	18.75	18	SNP	1.000	A
NFATC4	4776	genome.wustl.edu	37	14	24842944	24842944	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr14:24842944G>A	ENST00000250373.4	+	5	1744	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	NFATC4_ENST00000554661.1_Missense_Mutation_p.E465K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E535K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E598K|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.E523K|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.E523K|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.E548K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E567K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E567K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E465K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E548K|NFATC4_ENST00000556759.1_Missense_Mutation_p.E70K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E465K|NFATC4_ENST00000555167.1_Missense_Mutation_p.E70K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E465K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E548K|NFATC4_ENST00000413692.2_Missense_Mutation_p.E598K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E523K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E535K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E567K|NFATC4_ENST00000554473.1_Missense_Mutation_p.E70K	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	535	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TTCAGACATTGAGCTTCGGAA	0.567																																						dbGAP											0													108.0	108.0	108.0					14																	24842944		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1603G>A	14.37:g.24842944G>A	ENSP00000250373:p.Glu535Lys		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E598K	ENST00000250373.4	37	c.1792	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.670226	0.96754	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.055361	0.64402	D	0.000001	D	0.93252	0.7850	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.995;0.999;0.996;0.999;0.999;0.998;0.998;0.998;0.998;0.999;0.999;0.999;0.999;0.999	D	0.94337	0.7567	10	0.87932	D	0	-6.9464	15.5774	0.76404	0.0:0.0:1.0:0.0	.	523;523;567;567;548;548;548;598;598;523;465;567;512;598;535	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	K	598;598;548;548;548;567;567;567;535;535;535;465;465;465;523;465;523;523;70;70;70	ENSP00000388910:E598K;ENSP00000452039:E598K;ENSP00000451224:E548K;ENSP00000450644:E548K;ENSP00000388668:E548K;ENSP00000439350:E567K;ENSP00000452270:E567K;ENSP00000451502:E567K;ENSP00000451151:E535K;ENSP00000250373:E535K;ENSP00000450590:E535K;ENSP00000452349:E465K;ENSP00000450469:E465K;ENSP00000450733:E465K;ENSP00000451454:E523K;ENSP00000451284:E465K;ENSP00000396788:E523K;ENSP00000450686:E523K;ENSP00000450810:E70K;ENSP00000451183:E70K;ENSP00000451395:E70K	ENSP00000250373:E535K	E	+	1	0	NFATC4	23912784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.618000	0.98365	2.515000	0.84797	0.655000	0.94253	GAG	NFATC4	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000100968		0.567	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	54	0.00	0	G	NM_004554		24842944	24842944	+1	no_errors	ENST00000413692	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	A
NMT1	4836	genome.wustl.edu	37	17	43163979	43163979	+	Missense_Mutation	SNP	G	G	A	rs377156745		TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:43163979G>A	ENST00000592782.1	+	4	475	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	NMT1_ENST00000258960.2_Missense_Mutation_p.R115Q|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	115					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GCTAGCAAGCGAAGCTACCAG	0.557																																						dbGAP											0													99.0	78.0	85.0					17																	43163979		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.344G>A	17.37:g.43163979G>A	ENSP00000468424:p.Arg115Gln		A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.R115Q	ENST00000592782.1	37	c.344	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602463	0.87157	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.42131	0.98;1.0	5.53	5.53	0.82687	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	L	0.50333	1.59	0.80722	D	1	P	0.46656	0.882	B	0.31946	0.138	T	0.40059	-0.9583	10	0.51188	T	0.08	-7.4789	19.6556	0.95837	0.0:0.0:1.0:0.0	.	115	P30419	NMT1_HUMAN	Q	115	ENSP00000258960:R115Q;ENSP00000439263:R115Q	ENSP00000258960:R115Q	R	+	2	0	NMT1	40519505	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	7.694000	0.84235	2.882000	0.98803	0.655000	0.94253	CGA	NMT1	-	superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.557	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	31	0.00	0	G	NM_021079		43163979	43163979	+1	no_errors	ENST00000258960	ensembl	human	known	69_37n	missense	41	28.07	16	SNP	1.000	A
NOL3	8996	genome.wustl.edu	37	16	67208834	67208835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr16:67208834_67208835insC	ENST00000568146.1	+	3	649_650	c.596_597insC	c.(595-600)gggacgfs	p.T200fs	KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_Frame_Shift_Ins_p.D203fs|NOL3_ENST00000564053.1_Frame_Shift_Ins_p.D265fs|NOL3_ENST00000432069.2_Frame_Shift_Ins_p.D203fs			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	200					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		tcgaGGAAAGGGACGAGTCCGA	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		Exception_encountered	16.37:g.67208834_67208835insC	ENSP00000454598:p.Thr200fs		B4DFL0|O60937	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.T200fs	ENST00000568146.1	37	c.596_597	CCDS58473.1	16																																																																																			NOL3	-	NULL	ENSG00000140939		0.653	NOL3-003	KNOWN	basic|CCDS	protein_coding	NOL3	HGNC	protein_coding	OTTHUMT00000422746.1	148	0.00	0	-			67208834	67208835	+1	no_errors	ENST00000568146	ensembl	human	known	69_37n	frame_shift_ins	92	13.21	14	INS	0.000:0.003	C
NOP14	8602	genome.wustl.edu	37	4	2952728	2952729	+	Intron	DEL	GG	GG	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr4:2952728_2952729delGG	ENST00000314262.6	-	7	1051				NOP14_ENST00000416614.2_Intron|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Intron|NOP14_ENST00000398071.4_Intron	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGAGAAACTGGTTAAAAAGAT	0.287																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1002+111CC>-	4.37:g.2952728_2952729delGG			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	RNA	DEL	-	NULL	ENST00000314262.6	37	NULL	CCDS33945.1	4																																																																																			NOP14-AS1	-	-	ENSG00000249673		0.287	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14-AS1	HGNC	protein_coding	OTTHUMT00000358135.2	49	0.00	0	GG	NM_003703		2952728	2952729	+1	no_errors	ENST00000515194	ensembl	human	known	69_37n	rna	47	58.77	67	DEL	0.000:0.000	-
NOP14	8602	genome.wustl.edu	37	4	2952735	2952735	+	Intron	SNP	A	A	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr4:2952735A>T	ENST00000314262.6	-	7	1051				NOP14_ENST00000416614.2_Intron|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Intron|NOP14_ENST00000398071.4_Intron	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACTGGTTAAAAAGATTTAAAA	0.269																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1002+105T>A	4.37:g.2952735A>T			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	RNA	SNP	-	NULL	ENST00000314262.6	37	NULL	CCDS33945.1	4																																																																																			NOP14-AS1	-	-	ENSG00000249673		0.269	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14-AS1	HGNC	protein_coding	OTTHUMT00000358135.2	53	0.00	0	A	NM_003703		2952735	2952735	+1	no_errors	ENST00000515194	ensembl	human	known	69_37n	rna	51	60.16	77	SNP	0.001	T
OR4F21	441308	genome.wustl.edu	37	8	116434	116434	+	Silent	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr8:116434G>A	ENST00000320901.3	-	1	609	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_001005504.1	NP_001005504.1	O95013	O4F21_HUMAN	olfactory receptor, family 4, subfamily F, member 21	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						all_cancers(2;8.42e-24)|all_epithelial(2;5.38e-15)|Lung NSC(2;2.68e-06)|all_lung(2;5.05e-06)|Ovarian(12;0.0731)|Colorectal(14;0.0785)|all_hematologic(2;0.157)|Myeloproliferative disorder(644;0.185)|all_neural(12;0.186)|Acute lymphoblastic leukemia(644;0.244)		Epithelial(5;5.01e-18)|all cancers(2;6.06e-17)|OV - Ovarian serous cystadenocarcinoma(5;8.27e-09)|BRCA - Breast invasive adenocarcinoma(11;1.63e-06)|Colorectal(2;5.31e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0649)		CAGTGACCATGAACTGCAATC	0.443																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS34792.1	8p23.3	2012-08-09		2004-03-10	ENSG00000176269	ENSG00000176269		"""GPCR / Class A : Olfactory receptors"""	19583	protein-coding gene	gene with protein product				OR4F21P			Standard	NM_001005504		Approved		uc011kwf.2	O95013	OTTHUMG00000163908	ENST00000320901.3:c.591C>T	8.37:g.116434G>A			A6NIU1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F197	ENST00000320901.3	37	c.591	CCDS34792.1	8																																																																																			OR4F21	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176269		0.443	OR4F21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F21	HGNC	protein_coding	OTTHUMT00000376340.1	68	0.00	0	G			116434	116434	-1	no_errors	ENST00000320901	ensembl	human	known	69_37n	silent	86	14.00	14	SNP	0.520	A
PCDHB6	56130	genome.wustl.edu	37	5	140531687	140531688	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr5:140531687_140531688delGC	ENST00000231136.1	+	1	1849_1850	c.1849_1850delGC	c.(1849-1851)gcgfs	p.A617fs	PCDHB6_ENST00000543635.1_Frame_Shift_Del_p.A481fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	617	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGTGTGGGCGCACAATGGC	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1849_1850delGC	5.37:g.140531689_140531690delGC	ENSP00000231136:p.Ala617fs		B2R8R9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H618fs	ENST00000231136.1	37	c.1849_1850	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.678	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	45	0.00	0	GC	NM_018939		140531687	140531688	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	frame_shift_del	30	33.33	15	DEL	0.986:0.995	-
PFAS	5198	genome.wustl.edu	37	17	8168403	8168403	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:8168403delC	ENST00000314666.6	+	18	2373	c.2240delC	c.(2239-2241)gccfs	p.A747fs	PFAS_ENST00000545834.1_Frame_Shift_Del_p.A323fs	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	747					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GTGGCCGAAGCCCTCACCAAC	0.627																																						dbGAP											0													20.0	21.0	20.0					17																	8168403		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2240delC	17.37:g.8168403delC	ENSP00000313490:p.Ala747fs		A6H8V8	Frame_Shift_Del	DEL	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth	p.L748fs	ENST00000314666.6	37	c.2240	CCDS11136.1	17																																																																																			PFAS	-	superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	8	0.00	0	C			8168403	8168403	+1	no_errors	ENST00000314666	ensembl	human	known	69_37n	frame_shift_del	10	52.38	11	DEL	1.000	-
RBM15B	29890	genome.wustl.edu	37	3	51430439	51430439	+	Silent	SNP	C	C	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr3:51430439C>T	ENST00000323686.4	+	1	1709	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	537					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCACACCTTCTGTACTCAGA	0.602																																						dbGAP											0													40.0	45.0	43.0					3																	51430439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1609C>T	3.37:g.51430439C>T			A4QPG7|Q6QE19|Q9BV96	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.L537	ENST00000323686.4	37	c.1609	CCDS33764.1	3																																																																																			RBM15B	-	NULL	ENSG00000179837		0.602	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM15B	HGNC	protein_coding	OTTHUMT00000346489.1	21	0.00	0	C	NM_013286		51430439	51430439	+1	no_errors	ENST00000323686	ensembl	human	novel	69_37n	silent	8	61.90	13	SNP	0.993	T
RNF213	57674	genome.wustl.edu	37	17	78348337	78348338	+	Frame_Shift_Ins	INS	-	-	AG	rs9897381	byFrequency	TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:78348337_78348338insAG	ENST00000582970.1	+	50	13165_13166	c.13022_13023insAG	c.(13021-13026)gtggccfs	p.A4342fs	RNF213_ENST00000508628.2_Frame_Shift_Ins_p.A4391fs|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Frame_Shift_Ins_p.A2415fs|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4342					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGTGATGCTGTGGCCAAAGCTG	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		Exception_encountered	17.37:g.78348337_78348338insAG	ENSP00000464087:p.Ala4342fs		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Ins	INS	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.A4342fs	ENST00000582970.1	37	c.13022_13023	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.569	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	28	0.00	0	-	NM_020914		78348337	78348338	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	frame_shift_ins	26	36.59	15	INS	0.889:0.995	AG
SLC12A4	6560	genome.wustl.edu	37	16	67979728	67979729	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr16:67979728_67979729insCG	ENST00000316341.3	-	21	2925_2926	c.2785_2786insCG	c.(2785-2787)atgfs	p.M929fs	SLC12A4_ENST00000576616.1_Frame_Shift_Ins_p.M929fs|SLC12A4_ENST00000537830.2_Frame_Shift_Ins_p.M923fs|LCAT_ENST00000264005.5_5'Flank|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Frame_Shift_Ins_p.M898fs|SLC12A4_ENST00000422611.2_Frame_Shift_Ins_p.M931fs|SLC12A4_ENST00000572037.1_Frame_Shift_Ins_p.M881fs	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	929					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCTGCTCCATCATCAGCGTC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2785_2786insCG	16.37:g.67979728_67979729insCG	ENSP00000318557:p.Met929fs		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Frame_Shift_Ins	INS	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.M931fs	ENST00000316341.3	37	c.2792_2791	CCDS10855.1	16																																																																																			SLC12A4	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.614	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	10	0.00	0	-	NM_005072		67979728	67979729	-1	no_errors	ENST00000422611	ensembl	human	known	69_37n	frame_shift_ins	24	81.10	103	INS	1.000:1.000	CG
SMAD3	4088	genome.wustl.edu	37	15	67473741	67473742	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr15:67473741_67473742insG	ENST00000327367.4	+	6	1131_1132	c.821_822insG	c.(820-825)ctctccfs	p.S275fs	SMAD3_ENST00000540846.2_Frame_Shift_Ins_p.S170fs|SMAD3_ENST00000537194.2_Frame_Shift_Ins_p.S80fs|SMAD3_ENST00000439724.3_Frame_Shift_Ins_p.S231fs	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	275	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Sufficient for interaction with XPO4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTAGGGCTGCTCTCCAATGTCA	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	Exception_encountered	15.37:g.67473741_67473742insG	ENSP00000332973:p.Ser275fs		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Frame_Shift_Ins	INS	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S275fs	ENST00000327367.4	37	c.821_822	CCDS10222.1	15																																																																																			SMAD3	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000166949		0.619	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	37	0.00	0	-	NM_005902		67473741	67473742	+1	no_errors	ENST00000327367	ensembl	human	known	69_37n	frame_shift_ins	16	27.27	6	INS	1.000:1.000	G
SRP68	6730	genome.wustl.edu	37	17	74068439	74068439	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr17:74068439G>A	ENST00000307877.2	-	1	295	c.134C>T	c.(133-135)tCg>tTg	p.S45L	SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000539137.1_Missense_Mutation_p.S45L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CGATCCGGCCGAAGGGCGTTC	0.597																																						dbGAP											0													192.0	197.0	196.0					17																	74068439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.134C>T	17.37:g.74068439G>A	ENSP00000312066:p.Ser45Leu		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.S45L	ENST00000307877.2	37	c.134	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792568	0.50102	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	5.12	3.11	0.35812	.	0.654947	0.14495	N	0.316159	T	0.20210	0.0486	N	0.19112	0.55	0.22330	N	0.999191	B;B	0.26935	0.164;0.164	B;B	0.14023	0.01;0.01	T	0.11227	-1.0596	9	0.49607	T	0.09	-8.8077	5.8076	0.18448	0.1621:0.0:0.6824:0.1556	.	45;45	G3V1U4;Q9UHB9	.;SRP68_HUMAN	L	45	.	ENSP00000307756:S45L	S	-	2	0	SRP68	71580034	0.994000	0.37717	0.581000	0.28614	0.836000	0.47400	3.864000	0.56024	1.295000	0.44724	0.555000	0.69702	TCG	SRP68	-	NULL	ENSG00000167881		0.597	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	86	0.00	0	G	NM_014230		74068439	74068439	-1	no_errors	ENST00000307877	ensembl	human	known	69_37n	missense	56	32.53	27	SNP	0.059	A
SRPX2	27286	genome.wustl.edu	37	X	99921786	99921787	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chrX:99921786_99921787delGG	ENST00000373004.3	+	8	1245_1246	c.817_818delGG	c.(817-819)ggcfs	p.G273fs		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	273	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCGCAGCACGGCTACCTCACC	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.817_818delGG	X.37:g.99921786_99921787delGG	ENSP00000362095:p.Gly273fs		B3KQT3|Q8WW85	Frame_Shift_Del	DEL	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.G273fs	ENST00000373004.3	37	c.817_818	CCDS14471.1	X																																																																																			SRPX2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000102359		0.550	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	90	0.00	0	GG	NM_014467		99921786	99921787	+1	no_errors	ENST00000373004	ensembl	human	known	69_37n	frame_shift_del	66	68.42	143	DEL	1.000:1.000	-
SYTL5	94122	genome.wustl.edu	37	X	37985868	37985869	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chrX:37985868_37985869GG>AA	ENST00000357972.5	+	17	2624_2625	c.2078_2079GG>AA	c.(2077-2079)tGG>tAA	p.W693*	SYTL5_ENST00000456733.2_Nonsense_Mutation_p.W715*|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Nonsense_Mutation_p.W693*			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	693					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AACGTGGATTGGATGGACTCTC	0.5																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	Exception_encountered	X.37:g.37985868_37985869delinsAA	ENSP00000350657:p.Trp693*		A2RRF2	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.W715*	ENST00000357972.5	37	c.2144|c.2145	CCDS14244.1	X																																																																																			SYTL5	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000147041		0.500	SYTL5-201	KNOWN	basic|CCDS	protein_coding	SYTL5	HGNC	protein_coding	OTTHUMT00000080883.1	64	0.00	0	G	NM_138780		37985868|37985869	37985868|37985869	+1	no_errors	ENST00000456733	ensembl	human	known	69_37n	nonsense	61|60	43.52|43.40	47|46	SNP	1.000	A
TBC1D20	128637	genome.wustl.edu	37	20	422288	422288	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr20:422288G>T	ENST00000354200.4	-	5	717	c.570C>A	c.(568-570)aaC>aaA	p.N190K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	190	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GCATCAGATAGTTTAATATAT	0.448																																						dbGAP											0													209.0	175.0	186.0					20																	422288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.570C>A	20.37:g.422288G>T	ENSP00000346139:p.Asn190Lys		A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N190K	ENST00000354200.4	37	c.570	CCDS13002.1	20	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016173	0.75161	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.10860	2.83	5.88	4.92	0.64577	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.45352	1.415	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.13124	-1.0521	10	0.06236	T	0.91	-33.1104	9.7191	0.40291	0.1757:0.0:0.8243:0.0	.	190	Q96BZ9	TBC20_HUMAN	K	190;215	ENSP00000346139:N190K	ENSP00000246077:N215K	N	-	3	2	TBC1D20	370288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.015000	0.64035	1.458000	0.47871	0.655000	0.94253	AAC	TBC1D20	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000125875		0.448	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2	53	0.00	0	G	NM_144628		422288	422288	-1	no_errors	ENST00000354200	ensembl	human	known	69_37n	missense	105	11.76	14	SNP	1.000	T
TM9SF4	9777	genome.wustl.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	pfam_EMP70	p.Q338fs	ENST00000398022.2	37	c.1008_1009	CCDS13196.2	20																																																																																			TM9SF4	-	pfam_EMP70	ENSG00000101337		0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	47	0.00	0	-	NM_014742		30737490	30737491	+1	no_errors	ENST00000398022	ensembl	human	known	69_37n	frame_shift_ins	39	11.36	5	INS	1.000:1.000	C
TMEM132A	54972	genome.wustl.edu	37	11	60704276	60704279	+	Frame_Shift_Del	DEL	TTGT	TTGT	-	rs148123295		TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	TTGT	TTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr11:60704276_60704279delTTGT	ENST00000453848.2	+	11	3127_3130	c.2969_2972delTTGT	c.(2968-2973)cttgtgfs	p.LV990fs	TMEM132A_ENST00000005286.4_Frame_Shift_Del_p.LV991fs			Q24JP5	T132A_HUMAN	transmembrane protein 132A	990	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGTCCATCCTTGTGGCAGGCGAG	0.637																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2969_2972delTTGT	11.37:g.60704276_60704279delTTGT	ENSP00000405823:p.Leu990fs		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Frame_Shift_Del	DEL	NULL	p.L991fs	ENST00000453848.2	37	c.2972_2975	CCDS44618.1	11																																																																																			TMEM132A	-	NULL	ENSG00000006118		0.637	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	19	0.00	0	TTGT	NM_017870		60704276	60704279	+1	no_errors	ENST00000005286	ensembl	human	known	69_37n	frame_shift_del	8	42.86	6	DEL	1.000:1.000:1.000:1.000	-
TSC22D1	8848	genome.wustl.edu	37	13	45150014	45150014	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr13:45150014G>A	ENST00000458659.2	-	1	687	c.197C>T	c.(196-198)cCg>cTg	p.P66L	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.P66L	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	66	Pro-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGGGGGCGGCGGCTGAAGCAG	0.627																																						dbGAP											0													38.0	36.0	37.0					13																	45150014		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.197C>T	13.37:g.45150014G>A	ENSP00000397435:p.Pro66Leu		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.P66L	ENST00000458659.2	37	c.197	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786962	0.16189	.	.	ENSG00000102804	ENST00000458659;ENST00000501704;ENST00000493016	T	0.39056	1.1	4.23	4.23	0.50019	.	0.131649	0.34002	N	0.004343	T	0.23727	0.0574	N	0.19112	0.55	0.41778	D	0.989808	P;P	0.43352	0.792;0.804	B;B	0.28709	0.093;0.062	T	0.12656	-1.0539	10	0.34782	T	0.22	.	15.6979	0.77515	0.0:0.0:1.0:0.0	.	66;66	B3KRL7;Q15714	.;T22D1_HUMAN	L	66	ENSP00000397435:P66L	ENSP00000397435:P66L	P	-	2	0	TSC22D1	44048014	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.734000	0.62043	2.337000	0.79520	0.561000	0.74099	CCG	TSC22D1	-	NULL	ENSG00000102804		0.627	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	16	0.00	0	G	NM_006022		45150014	45150014	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179593267	179593267	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr2:179593267delG	ENST00000591111.1	-	64	18659	c.18435delC	c.(18433-18435)gacfs	p.D6145fs	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.D6462fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.D5218fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12929	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D5218E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTCCGAAGTCATTTTCCA	0.393																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											66.0	59.0	61.0					2																	179593267		1905	4134	6039	-	-	-	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18435delC	2.37:g.179593267delG	ENSP00000465570:p.Asp6145fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F5219fs	ENST00000591111.1	37	c.15654		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	123	0.00	0	G	NM_133378		179593267	179593267	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	84	31.82	42	DEL	1.000	-
UNC5A	90249	genome.wustl.edu	37	5	176305378	176305378	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr5:176305378delT	ENST00000329542.4	+	12	2277	c.2003delT	c.(2002-2004)ctcfs	p.L669fs	UNC5A_ENST00000261961.3_Frame_Shift_Del_p.L629fs	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	669					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGTAAGCTCCTTGTCAGC	0.612																																						dbGAP											0													97.0	100.0	99.0					5																	176305378		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2003delT	5.37:g.176305378delT	ENSP00000332737:p.Leu669fs		B2RXE6|Q8TF26|Q96GP4	Frame_Shift_Del	DEL	pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.L668fs	ENST00000329542.4	37	c.2003	CCDS34299.1	5																																																																																			UNC5A	-	NULL	ENSG00000113763		0.612	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1	26	0.00	0	T	XM_030300		176305378	176305378	+1	no_errors	ENST00000329542	ensembl	human	known	69_37n	frame_shift_del	7	36.36	4	DEL	1.000	-
ZBTB48	3104	genome.wustl.edu	37	1	6649225	6649225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr1:6649225delC	ENST00000377674.4	+	11	2178	c.2020delC	c.(2020-2022)cccfs	p.P674fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	674					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TGTCCTGGAGCCCTCCCTCAT	0.647																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	dbGAP											0													48.0	52.0	50.0					1																	6649225		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.2020delC	1.37:g.6649225delC	ENSP00000366902:p.Pro674fs		Q5SY19	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S675fs	ENST00000377674.4	37	c.2020	CCDS84.1	1																																																																																			ZBTB48	-	NULL	ENSG00000204859		0.647	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB48	HGNC	protein_coding	OTTHUMT00000004193.1	24	0.00	0	C	NM_005341		6649225	6649225	+1	no_errors	ENST00000377674	ensembl	human	known	69_37n	frame_shift_del	13	58.82	20	DEL	1.000	-
ZFYVE26	23503	genome.wustl.edu	37	14	68229469	68229469	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr14:68229469C>T	ENST00000347230.4	-	33	6217	c.6079G>A	c.(6079-6081)Gat>Aat	p.D2027N	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D2027N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2027					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGATCTGATCCAAAGATGGC	0.498																																						dbGAP											0													101.0	85.0	90.0					14																	68229469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6079G>A	14.37:g.68229469C>T	ENSP00000251119:p.Asp2027Asn		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.D2027N	ENST00000347230.4	37	c.6079	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712615	0.48517	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30714	1.67;1.52	5.62	4.73	0.59995	.	0.156920	0.53938	D	0.000045	T	0.49029	0.1533	L	0.54323	1.7	0.39827	D	0.97291	D;P	0.55800	0.973;0.954	P;P	0.60415	0.874;0.647	T	0.50039	-0.8874	10	0.51188	T	0.08	-3.5975	17.664	0.88199	0.0:0.9348:0.0:0.0652	.	2027;2027	G3V2D8;Q68DK2	.;ZFY26_HUMAN	N	2027;2006;2027	ENSP00000251119:D2027N;ENSP00000450603:D2027N	ENSP00000251119:D2027N	D	-	1	0	ZFYVE26	67299222	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	4.828000	0.62730	0.753000	0.32945	-1.119000	0.02030	GAT	ZFYVE26	-	NULL	ENSG00000072121		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	79	0.00	0	C	NM_015346		68229469	68229469	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	131	27.96	52	SNP	1.000	T
ZFYVE28	57732	genome.wustl.edu	37	4	2341340	2341340	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr4:2341340T>A	ENST00000290974.2	-	4	700	c.361A>T	c.(361-363)Agc>Tgc	p.S121C	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S121C|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S51C|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.S51C|ZFYVE28_ENST00000509171.1_Missense_Mutation_p.S74C|ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.S121C	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	121					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ATGGCCATGCTCTCCAGCTCC	0.711																																						dbGAP											0													28.0	28.0	28.0					4																	2341340		2202	4296	6498	-	-	-	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.361A>T	4.37:g.2341340T>A	ENSP00000290974:p.Ser121Cys		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S121C	ENST00000290974.2	37	c.361	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743165	0.89663	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312;ENST00000515169;ENST00000509171;ENST00000503000;ENST00000508184	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.87578	0.998;0.855;0.992	T	0.69720	-0.5069	10	0.87932	D	0	.	13.0491	0.58944	0.0:0.0:0.0:1.0	.	121;74;121	Q9HCC9-2;E9PB54;Q9HCC9	.;.;LST2_HUMAN	C	121;121;51;51;74;121;51	ENSP00000290974:S121C;ENSP00000425706:S121C;ENSP00000426299:S51C;ENSP00000425766:S51C;ENSP00000422638:S74C;ENSP00000423694:S121C;ENSP00000427471:S51C	ENSP00000290974:S121C	S	-	1	0	ZFYVE28	2311138	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.523000	0.67099	1.673000	0.50895	0.477000	0.44152	AGC	ZFYVE28	-	NULL	ENSG00000159733		0.711	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	11	0.00	0	T	XM_035371		2341340	2341340	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	1.000	A
ZNF592	9640	genome.wustl.edu	37	15	85334030	85334030	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr15:85334030A>T	ENST00000560079.2	+	5	2603	c.2315A>T	c.(2314-2316)gAg>gTg	p.E772V	ZNF592_ENST00000299927.3_Missense_Mutation_p.E772V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	772					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTGCCCGGAGTGTGGGGTC	0.597																																						dbGAP											0													123.0	107.0	112.0					15																	85334030		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2315A>T	15.37:g.85334030A>T	ENSP00000452877:p.Glu772Val		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E772V	ENST00000560079.2	37	c.2315	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	A	29.7	5.029069	0.93518	.	.	ENSG00000166716	ENST00000299927	T	0.02498	4.27	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	M	0.62088	1.915	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.00208	-1.1918	10	0.66056	D	0.02	-29.5721	13.7682	0.63008	1.0:0.0:0.0:0.0	.	772	Q92610	ZN592_HUMAN	V	772	ENSP00000299927:E772V	ENSP00000299927:E772V	E	+	2	0	ZNF592	83135034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.138000	0.66242	0.460000	0.39030	GAG	ZNF592	-	smart_Znf_C2H2-like	ENSG00000166716		0.597	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	77	0.00	0	A	NM_014630		85334030	85334030	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	missense	84	12.50	12	SNP	1.000	T
ZNRF4	148066	genome.wustl.edu	37	19	5455855	5455855	+	Missense_Mutation	SNP	C	C	T	rs149951234		TCGA-A8-A08H-01A-21W-A019-09	TCGA-A8-A08H-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	26161c06-f816-489a-8800-e0a68a4ce78a	c384d5d9-b1d6-4553-8f3f-7602dbaca681	g.chr19:5455855C>T	ENST00000222033.4	+	1	430	c.353C>T	c.(352-354)gCg>gTg	p.A118V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	118						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GATCTGCCGGCGCTGTTCGGC	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15622	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													48.0	57.0	54.0					19																	5455855		2103	4204	6307	-	-	-	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.353C>T	19.37:g.5455855C>T	ENSP00000222033:p.Ala118Val		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A118V	ENST00000222033.4	37	c.353	CCDS42475.1	19	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	C	16.39	3.110696	0.56398	.	.	ENSG00000105428	ENST00000222033	T	0.20069	2.1	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.49236	0.1545	M	0.82323	2.585	0.45250	D	0.998254	D	0.89917	1.0	D	0.85130	0.997	T	0.56842	-0.7912	10	0.87932	D	0	.	13.9999	0.64427	0.0:1.0:0.0:0.0	.	118	Q8WWF5	ZNRF4_HUMAN	V	118	ENSP00000222033:A118V	ENSP00000222033:A118V	A	+	2	0	ZNRF4	5406855	0.944000	0.32072	0.053000	0.19242	0.037000	0.13140	2.926000	0.48892	2.082000	0.62665	0.491000	0.48974	GCG	ZNRF4	-	NULL	ENSG00000105428		0.687	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	37	0.00	0	C	NM_181710		5455855	5455855	+1	no_errors	ENST00000222033	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	0.757	T
