#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
AHCTF1	25909	genome.wustl.edu	37	1	247027259	247027259	+	Silent	SNP	T	T	C			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr1:247027259T>C	ENST00000391829.2	-	27	3630	c.3507A>G	c.(3505-3507)gaA>gaG	p.E1169E	AHCTF1_ENST00000366508.1_Silent_p.E1204E|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.E1178E			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1169	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCAAATGTAATTCTGAAGCCC	0.428																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													89.0	96.0	94.0					1																	247027259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3507A>G	1.37:g.247027259T>C			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.E1178	ENST00000391829.2	37	c.3534		1																																																																																			AHCTF1	-	NULL	ENSG00000153207		0.428	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		53	0.00	0	T	NM_015446		247027259	247027259	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	silent	17	45.16	14	SNP	0.981	C
BOD1L1	259282	genome.wustl.edu	37	4	13604573	13604573	+	Silent	SNP	G	G	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr4:13604573G>T	ENST00000040738.5	-	10	4086	c.3951C>A	c.(3949-3951)acC>acA	p.T1317T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1317						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCGCAGGGGAGGTGCTGGCTG	0.463																																						dbGAP											0													142.0	130.0	134.0					4																	13604573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3951C>A	4.37:g.13604573G>T			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.T1317	ENST00000040738.5	37	c.3951	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.463	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	46	0.00	0	G	NM_148894		13604573	13604573	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	silent	16	68.63	35	SNP	0.011	T
NRDE2	55051	genome.wustl.edu	37	14	90764685	90764685	+	Missense_Mutation	SNP	G	G	A	rs368842771		TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr14:90764685G>A	ENST00000354366.3	-	8	1817	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	NRDE2_ENST00000357904.3_Missense_Mutation_p.R298W	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	529																	TCCCCAGCCCGGGGCTCTCCA	0.542																																						dbGAP											0													55.0	56.0	56.0					14																	90764685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1585C>T	14.37:g.90764685G>A	ENSP00000346335:p.Arg529Trp		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.R529W	ENST00000354366.3	37	c.1585	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526643	0.85706	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.34472	1.36;1.36	5.58	4.68	0.58851	Domain of unknown function DUF1740 (1);	0.065412	0.64402	D	0.000012	T	0.66626	0.2808	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75249	-0.3384	10	0.87932	D	0	-31.5034	15.9753	0.80060	0.0:0.0:0.8642:0.1358	.	529	Q9H7Z3	CN102_HUMAN	W	529;298;108	ENSP00000346335:R529W;ENSP00000350579:R298W	ENSP00000346335:R529W	R	-	1	2	C14orf102	89834438	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.847000	0.62867	1.351000	0.45789	0.455000	0.32223	CGG	C14orf102	-	pfam_NRDE-2	ENSG00000119720		0.542	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf102	HGNC	protein_coding	OTTHUMT00000411264.1	42	0.00	0	G	NM_017970		90764685	90764685	-1	no_errors	ENST00000354366	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	1.000	A
COL27A1	85301	genome.wustl.edu	37	9	116930643	116930643	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr9:116930643G>A	ENST00000356083.3	+	3	1199	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	270					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTAGGCCTGGAGAACTTGAC	0.642																																						dbGAP											0													54.0	52.0	53.0					9																	116930643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.808G>A	9.37:g.116930643G>A	ENSP00000348385:p.Glu270Lys		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.E270K	ENST00000356083.3	37	c.808	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604753	0.28623	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.90788	-2.49;-2.73	4.96	3.94	0.45596	.	.	.	.	.	T	0.80934	0.4719	L	0.27053	0.805	0.09310	N	0.999996	B;B	0.26318	0.085;0.146	B;B	0.22152	0.026;0.038	T	0.65685	-0.6108	9	0.22706	T	0.39	.	3.9543	0.09383	0.1539:0.2511:0.595:0.0	.	270;217	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	K	270;270;217;217	ENSP00000348385:E270K;ENSP00000391328:E217K	ENSP00000348385:E270K	E	+	1	0	COL27A1	115970464	0.115000	0.22152	0.990000	0.47175	0.588000	0.36517	0.503000	0.22610	2.294000	0.77228	0.561000	0.74099	GAG	COL27A1	-	NULL	ENSG00000196739		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	45	0.00	0	G	NM_032888		116930643	116930643	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	20	13.04	3	SNP	0.679	A
CS	1431	genome.wustl.edu	37	12	56676232	56676232	+	Missense_Mutation	SNP	T	T	C	rs77708038		TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr12:56676232T>C	ENST00000351328.3	-	6	750	c.560A>G	c.(559-561)cAg>cGg	p.Q187R	CS_ENST00000548567.1_Missense_Mutation_p.Q121R|CS_ENST00000542324.2_Missense_Mutation_p.Q174R	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	187				Q -> R (in Ref. 1; AAC25560). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCTGATACCCTGTGCATATGC	0.502																																						dbGAP											0													101.0	76.0	85.0					12																	56676232		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.560A>G	12.37:g.56676232T>C	ENSP00000342056:p.Gln187Arg		Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.Q187R	ENST00000351328.3	37	c.560	CCDS8913.1	12	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123447	0.56613	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554	.	.	.	4.79	4.79	0.61399	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.098661	0.64402	D	0.000002	T	0.35158	0.0922	N	0.25245	0.725	0.28067	N	0.932723	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.12837	0.008;0.003;0.005;0.003	T	0.25984	-1.0116	9	0.42905	T	0.14	-9.4858	14.0038	0.64449	0.0:0.0:0.0:1.0	.	121;174;142;187	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	R	121;187;174;112;121;121;121;121;151;137	.	ENSP00000342056:Q187R	Q	-	2	0	CS	54962499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.602000	0.82796	2.094000	0.63399	0.528000	0.53228	CAG	CS	-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk	ENSG00000062485		0.502	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	110	0.90	1	T	NM_004077		56676232	56676232	-1	no_errors	ENST00000351328	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	C
CS	1431	genome.wustl.edu	37	12	56676244	56676244	+	Missense_Mutation	SNP	C	C	T	rs116165297		TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr12:56676244C>T	ENST00000351328.3	-	6	738	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	CS_ENST00000548567.1_Missense_Mutation_p.R117Q|CS_ENST00000542324.2_Missense_Mutation_p.R170Q	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	183				R -> Q (in Ref. 1; AAC25560). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.R183Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TGCATATGCTCGGGCAAAGTT	0.507																																						dbGAP											1	Substitution - Missense(1)	skin(1)											110.0	83.0	92.0					12																	56676244		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.548G>A	12.37:g.56676244C>T	ENSP00000342056:p.Arg183Gln		Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.R183Q	ENST00000351328.3	37	c.548	CCDS8913.1	12	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678105	0.68042	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554;ENST00000551473;ENST00000547298	.	.	.	4.79	4.79	0.61399	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	N	0.04355	-0.22	0.53688	D	0.999977	B;B;B;B	0.15930	0.015;0.005;0.005;0.005	B;B;B;B	0.10450	0.005;0.003;0.002;0.003	T	0.22487	-1.0215	9	0.42905	T	0.14	-8.3747	17.4825	0.87677	0.0:1.0:0.0:0.0	.	117;170;138;183	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	Q	117;183;170;108;117;117;117;117;147;133;117;117	.	ENSP00000342056:R183Q	R	-	2	0	CS	54962511	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.596000	0.67570	2.591000	0.87537	0.650000	0.86243	CGA	CS	-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk	ENSG00000062485		0.507	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	104	0.95	1	C	NM_004077		56676244	56676244	-1	no_errors	ENST00000351328	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	T
CTBP1	1487	genome.wustl.edu	37	4	1245889	1245889	+	5'Flank	SNP	C	C	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr4:1245889C>A	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1_ENST00000382952.3_5'Flank	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GAAAAAAAAACCAGTCAtttt	0.418																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1245889C>A	Exception_encountered		Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS1	-	-	ENSG00000196810		0.418	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS1	HGNC	protein_coding	OTTHUMT00000202938.1	24	0.00	0	C	NM_001328		1245889	1245889	+1	no_errors	ENST00000581398	ensembl	human	known	69_37n	rna	12	50.00	12	SNP	0.001	A
DST	667	genome.wustl.edu	37	6	56323823	56323823	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr6:56323823C>G	ENST00000361203.3	-	98	22373	c.22366G>C	c.(22366-22368)Gac>Cac	p.D7456H	DST_ENST00000244364.6_Missense_Mutation_p.D5166H|DST_ENST00000446842.2_Missense_Mutation_p.D7241H|DST_ENST00000370754.5_Missense_Mutation_p.D7745H|DST_ENST00000370788.2_Missense_Mutation_p.D5370H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D5452H|DST_ENST00000370769.4_Missense_Mutation_p.D7567H			Q03001	DYST_HUMAN	dystonin	7565					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGGACTTGTCCAATTTGCTG	0.463																																						dbGAP											0													88.0	90.0	89.0					6																	56323823		1863	4097	5960	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22366G>C	6.37:g.56323823C>G	ENSP00000354508:p.Asp7456His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D7745H	ENST00000361203.3	37	c.23233		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.873851|2.873851	0.51695|0.51695	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000523292	T;T;T;T;T;T;T|.	0.66280|.	1.06;-0.2;-0.2;0.02;0.74;-0.01;-0.09|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.53938|.	D|.	0.000052|.	T|T	0.51329|0.51329	0.1668|0.1668	L|L	0.51422|0.51422	1.61|1.61	0.35467|.	D|.	0.797058|.	D;B;D;P;P;P;P;D|.	0.89917|.	0.976;0.328;1.0;0.93;0.897;0.694;0.731;0.994|.	P;B;D;B;P;B;P;P|.	0.71656|.	0.781;0.022;0.974;0.436;0.735;0.259;0.45;0.885|.	T|T	0.53194|0.53194	-0.8473|-0.8473	9|4	0.56958|.	D|.	0.05|.	.|.	13.0058|13.0058	0.58703|0.58703	0.0:0.926:0.0:0.0739|0.0:0.926:0.0:0.0739	.|.	5452;7567;7745;7565;5166;253;253;5370|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0|.	.;.;.;DYST_HUMAN;.;.;.;.|.	H|C	5166;7745;7567;5452;7241;5370;7456|253	ENSP00000244364:D5166H;ENSP00000359790:D7745H;ENSP00000359805:D7567H;ENSP00000400883:D5452H;ENSP00000393645:D7241H;ENSP00000359824:D5370H;ENSP00000354508:D7456H|.	ENSP00000244364:D5166H|.	D|W	-|-	1|3	0|0	DST|DST	56431782|56431782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.739000|5.739000	0.68622|0.68622	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GAC|TGG	DST	-	NULL	ENSG00000151914		0.463	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	90	0.00	0	C	NM_001723		56323823	56323823	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	39	36.07	22	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56323940	56323940	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr6:56323940C>T	ENST00000361203.3	-	98	22256	c.22249G>A	c.(22249-22251)Gat>Aat	p.D7417N	DST_ENST00000244364.6_Missense_Mutation_p.D5127N|DST_ENST00000446842.2_Missense_Mutation_p.D7202N|DST_ENST00000370754.5_Missense_Mutation_p.D7706N|DST_ENST00000370788.2_Missense_Mutation_p.D5331N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D5413N|DST_ENST00000370769.4_Missense_Mutation_p.D7528N			Q03001	DYST_HUMAN	dystonin	7526					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCCACATCTGAGCACACG	0.567																																						dbGAP											0													72.0	75.0	74.0					6																	56323940		2009	4187	6196	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22249G>A	6.37:g.56323940C>T	ENSP00000354508:p.Asp7417Asn		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D7706N	ENST00000361203.3	37	c.23116		6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265186	0.80358	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.71461	-0.17;-0.56;-0.57;-0.37;0.37;-0.26;-0.46	5.96	5.96	0.96718	.	0.113575	0.38492	N	0.001675	D	0.83050	0.5170	M	0.77820	2.39	0.32497	N	0.5393319999999999	P;D;D;P;D;P;D;P	0.76494	0.954;0.991;0.999;0.954;0.987;0.748;0.983;0.469	P;P;D;P;P;B;P;B	0.70935	0.563;0.848;0.971;0.563;0.877;0.397;0.848;0.287	T	0.82997	-0.0179	9	0.62326	D	0.03	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	5413;7528;7706;7526;5127;214;214;5331	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.;.;.;DYST_HUMAN;.;.;.;.	N	5127;7706;7528;5413;7202;5331;7417	ENSP00000244364:D5127N;ENSP00000359790:D7706N;ENSP00000359805:D7528N;ENSP00000400883:D5413N;ENSP00000393645:D7202N;ENSP00000359824:D5331N;ENSP00000354508:D7417N	ENSP00000244364:D5127N	D	-	1	0	DST	56431899	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAT	DST	-	NULL	ENSG00000151914		0.567	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	39	0.00	0	C	NM_001723		56323940	56323940	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	23	46.51	20	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56324027	56324027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr6:56324027C>A	ENST00000361203.3	-	98	22169	c.22162G>T	c.(22162-22164)Gga>Tga	p.G7388*	DST_ENST00000244364.6_Nonsense_Mutation_p.G5098*|DST_ENST00000446842.2_Nonsense_Mutation_p.G7173*|DST_ENST00000370754.5_Nonsense_Mutation_p.G7677*|DST_ENST00000370788.2_Nonsense_Mutation_p.G5302*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.G5384*|DST_ENST00000370769.4_Nonsense_Mutation_p.G7499*			Q03001	DYST_HUMAN	dystonin	7497					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTTGCTTCCAGCTCGACTT	0.507																																						dbGAP											0													33.0	34.0	34.0					6																	56324027		1955	4159	6114	-	-	-	SO:0001587	stop_gained	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22162G>T	6.37:g.56324027C>A	ENSP00000354508:p.Gly7388*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.G7677*	ENST00000361203.3	37	c.23029		6	.	.	.	.	.	.	.	.	.	.	C	59	34.685495	0.99982	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	X	5098;7677;7499;5384;7173;5302;7388	.	ENSP00000244364:G5098X	G	-	1	0	DST	56431986	1.000000	0.71417	0.729000	0.30791	0.977000	0.68977	7.813000	0.86123	2.826000	0.97356	0.655000	0.94253	GGA	DST	-	NULL	ENSG00000151914		0.507	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	40	0.00	0	C	NM_001723		56324027	56324027	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	nonsense	9	47.06	8	SNP	1.000	A
AMER3	205147	genome.wustl.edu	37	2	131521307	131521308	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr2:131521307_131521308insG	ENST00000423981.1	+	2	1772_1773	c.1662_1663insG	c.(1663-1665)gggfs	p.G555fs	AMER3_ENST00000321420.4_Frame_Shift_Ins_p.G555fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	555					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCTCAGATGCAGGGGGGGCGAC	0.713																																						dbGAP											0									,,,	18,4140		2,14,2063					,,,	0.4	0.0			11	10,8116		0,10,4053	no	frameshift,frameshift,frameshift,frameshift	FAM123C	NM_152698.2,NM_001105195.1,NM_001105194.1,NM_001105193.1	,,,	2,24,6116	A1A1,A1R,RR		0.1231,0.4329,0.2279	,,,	,,,		28,12256				-	-	-	SO:0001589	frameshift_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1669dupG	2.37:g.131521314_131521314dupG	ENSP00000392700:p.Gly555fs		B7ZLH6	Frame_Shift_Ins	INS	pfam_Uncharacterised_FAM123	p.A556fs	ENST00000423981.1	37	c.1662_1663	CCDS2164.1	2																																																																																			FAM123C	-	NULL	ENSG00000178171		0.713	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	14	0.00	0	-	NM_152698		131521307	131521308	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	frame_shift_ins	10	28.57	4	INS	0.000:0.000	G
FCGBP	8857	genome.wustl.edu	37	19	40433370	40433370	+	Missense_Mutation	SNP	C	C	A	rs566622474		TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr19:40433370C>A	ENST00000221347.6	-	2	906	c.899G>T	c.(898-900)cGg>cTg	p.R300L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	300	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGATGGCCGGACCTCAAA	0.562																																						dbGAP											0													61.0	56.0	58.0					19																	40433370		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.899G>T	19.37:g.40433370C>A	ENSP00000221347:p.Arg300Leu		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.R300L	ENST00000221347.6	37	c.899	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	9.009	0.981909	0.18812	.	.	ENSG00000090920	ENST00000221347	T	0.18502	2.21	4.36	-0.133	0.13485	.	1.265550	0.05874	N	0.625259	T	0.11239	0.0274	L	0.36672	1.1	0.09310	N	1	P	0.38827	0.649	B	0.26693	0.072	T	0.31223	-0.9951	10	0.42905	T	0.14	.	7.1573	0.25645	0.0:0.4869:0.0:0.5131	.	300	Q9Y6R7	FCGBP_HUMAN	L	300	ENSP00000221347:R300L	ENSP00000221347:R300L	R	-	2	0	FCGBP	45125210	0.000000	0.05858	0.016000	0.15963	0.230000	0.25150	-1.053000	0.03500	0.077000	0.16863	0.655000	0.94253	CGG	FCGBP	-	NULL	ENSG00000090920		0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	36	0.00	0	C	NM_003890		40433370	40433370	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.023	A
GATA3	2625	genome.wustl.edu	37	10	8115861	8115862	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr10:8115861_8115862insT	ENST00000346208.3	+	6	1662_1663	c.1207_1208insT	c.(1207-1209)ctgfs	p.L403fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.L404fs			P23771	GATA3_HUMAN	GATA binding protein 3	403					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CATGTCCTCCCTGAGCCACATC	0.584			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1208dupT	10.37:g.8115862_8115862dupT	ENSP00000341619:p.Leu403fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S405fs	ENST00000346208.3	37	c.1210_1211	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.584	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	52	0.00	0	-	NM_001002295		8115861	8115862	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	10	28.57	4	INS	0.998:1.000	T
GFPT2	9945	genome.wustl.edu	37	5	179740926	179740927	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr5:179740926_179740927insA	ENST00000253778.8	-	14	1480_1481	c.1311_1312insT	c.(1309-1314)tgtaagfs	p.K438fs	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	438	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCGCGGTCCTTACAGTAGCGCA	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1312dupT	5.37:g.179740927_179740927dupA	ENSP00000253778:p.Lys438fs		Q53XM2|Q9BWS4	Frame_Shift_Ins	INS	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.K437fs	ENST00000253778.8	37	c.1312_1311	CCDS43411.1	5																																																																																			GFPT2	-	pfam_SIS,tigrfam_GlmS_trans	ENSG00000131459		0.708	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	51	0.00	0	-	NM_005110		179740926	179740927	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	frame_shift_ins	20	33.33	10	INS	1.000:0.889	A
HDAC5	10014	genome.wustl.edu	37	17	42161001	42161001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr17:42161001C>T	ENST00000393622.2	-	18	2706	c.2375G>A	c.(2374-2376)tGg>tAg	p.W792*	HDAC5_ENST00000586802.1_Nonsense_Mutation_p.W792*|HDAC5_ENST00000225983.6_Nonsense_Mutation_p.W793*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.W707*	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	792	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CATCTCATTCCACACGGTGTC	0.642																																						dbGAP											0													79.0	64.0	69.0					17																	42161001		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2375G>A	17.37:g.42161001C>T	ENSP00000377244:p.Trp792*		C9JFV9|O60340|O60528|Q96DY4	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.W793*	ENST00000393622.2	37	c.2378	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.781824	0.99263	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2938	16.9825	0.86332	0.0:1.0:0.0:0.0	.	.	.	.	X	793;792;707	.	ENSP00000225983:W793X	W	-	2	0	HDAC5	39516527	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.596000	0.82721	2.548000	0.85928	0.655000	0.94253	TGG	HDAC5	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	44	0.00	0	C	NM_001015053		42161001	42161001	-1	no_errors	ENST00000225983	ensembl	human	known	69_37n	nonsense	17	50.00	17	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152186614	152186614	+	Silent	SNP	C	C	G			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																						dbGAP											0													1.0	1.0	1.0					1																	152186614		84	271	355	-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	37	0.00	0	C	XM_373868		152186614	152186614	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	32	13.51	5	SNP	0.000	G
HTRA3	94031	genome.wustl.edu	37	4	8305971	8305971	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr4:8305971T>A	ENST00000307358.2	+	8	1365	c.1161T>A	c.(1159-1161)taT>taA	p.Y387*		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	387	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GTGGAATTTATGTGCAAGAGG	0.612																																						dbGAP											0													74.0	74.0	74.0					4																	8305971		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1161T>A	4.37:g.8305971T>A	ENSP00000303766:p.Tyr387*		Q7Z7A2	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kazal-type_dom,pfam_PDZ,pfam_Prot_inh_Kazal,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ	p.Y387*	ENST00000307358.2	37	c.1161	CCDS3400.1	4	.	.	.	.	.	.	.	.	.	.	t	18.09	3.547120	0.65311	.	.	ENSG00000170801	ENST00000307358	.	.	.	4.55	-8.5	0.00927	.	0.078430	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.127	17.4165	0.87502	0.0:0.2013:0.0:0.7987	.	.	.	.	X	387	.	ENSP00000303766:Y387X	Y	+	3	2	HTRA3	8356871	0.008000	0.16893	0.318000	0.25279	0.177000	0.22998	-1.960000	0.01517	-1.782000	0.01275	-1.260000	0.01463	TAT	HTRA3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000170801		0.612	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	99	0.00	0	T	NM_053044		8305971	8305971	+1	no_errors	ENST00000307358	ensembl	human	known	69_37n	nonsense	28	44.00	22	SNP	0.454	A
ITCH	83737	genome.wustl.edu	37	20	33077728	33077728	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr20:33077728G>T	ENST00000262650.6	+	23	2575	c.2439G>T	c.(2437-2439)tgG>tgT	p.W813C	ITCH_ENST00000535650.1_Missense_Mutation_p.W662C|ITCH_ENST00000374864.4_Missense_Mutation_p.W772C			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	813	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTGGTTTTGGCAGGTTTGTT	0.353																																						dbGAP											0													103.0	99.0	100.0					20																	33077728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2439G>T	20.37:g.33077728G>T	ENSP00000262650:p.Trp813Cys		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.W813C	ENST00000262650.6	37	c.2439	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524227	0.85600	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.55234	0.53;0.53;0.53	5.72	5.72	0.89469	HECT (4);	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.87278	0.2290	10	0.87932	D	0	.	19.8252	0.96614	0.0:0.0:1.0:0.0	.	724;813;772	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	C	772;662;813	ENSP00000363998:W772C;ENSP00000445608:W662C;ENSP00000262650:W813C	ENSP00000262650:W813C	W	+	3	0	ITCH	32541389	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.789000	0.99068	2.859000	0.98148	0.591000	0.81541	TGG	ITCH	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000078747		0.353	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	57	0.00	0	G			33077728	33077728	+1	no_errors	ENST00000262650	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	T
JRK	8629	genome.wustl.edu	37	8	143745924	143745924	+	RNA	SNP	G	G	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr8:143745924G>A	ENST00000507178.2	-	0	1886							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ACGGCACGCAGCGCCCgcagc	0.706																																						dbGAP											0													14.0	19.0	17.0					8																	143745924		2153	4260	6413	-	-	-			0			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143745924G>A			O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-	ENSG00000234616		0.706	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	35	0.00	0	G	NM_003724		143745924	143745924	-1	no_errors	ENST00000422119	ensembl	human	known	69_37n	rna	11	35.29	6	SNP	0.065	A
KDM2A	22992	genome.wustl.edu	37	11	67012699	67012699	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr11:67012699A>G	ENST00000529006.2	+	14	2049	c.1603A>G	c.(1603-1605)Atc>Gtc	p.I535V	KDM2A_ENST00000530342.1_Missense_Mutation_p.I96V|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.I535V|KDM2A_ENST00000308783.5_5'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	535					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGTTCCTACCATCCCCATTAC	0.522																																						dbGAP											0													154.0	160.0	158.0					11																	67012699		1964	4121	6085	-	-	-	SO:0001583	missense	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1603A>G	11.37:g.67012699A>G	ENSP00000432786:p.Ile535Val		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.I535V	ENST00000529006.2	37	c.1603	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	A	7.957	0.746075	0.15710	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134	T;T;T	0.41758	0.99;2.31;1.95	5.36	5.36	0.76844	.	0.456461	0.25427	N	0.030744	T	0.22781	0.0550	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.10450	0.005	T	0.10359	-1.0633	10	0.10902	T	0.67	-16.1525	14.0907	0.64987	1.0:0.0:0.0:0.0	.	535	Q9Y2K7	KDM2A_HUMAN	V	535;535;96;96	ENSP00000381640:I535V;ENSP00000432786:I535V;ENSP00000435776:I96V	ENSP00000381640:I535V	I	+	1	0	KDM2A	66769275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	2.254000	0.74563	0.528000	0.53228	ATC	KDM2A	-	NULL	ENSG00000173120		0.522	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	70	0.00	0	A	NM_012308		67012699	67012699	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	missense	19	50.00	19	SNP	1.000	G
KIAA0430	9665	genome.wustl.edu	37	16	15725261	15725261	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr16:15725261G>T	ENST00000396368.3	-	6	1534	c.1328C>A	c.(1327-1329)cCa>cAa	p.P443Q	KIAA0430_ENST00000602337.1_Missense_Mutation_p.P440Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P443Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.P443Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P440Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P265Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	443	NYN.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACTGTGGCTGGAGCAGTGTG	0.448																																						dbGAP											0													80.0	78.0	79.0					16																	15725261		1950	4169	6119	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1328C>A	16.37:g.15725261G>T	ENSP00000379654:p.Pro443Gln		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P443Q	ENST00000396368.3	37	c.1328	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	30	5.052316	0.93793	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.24	5.24	0.73138	Domain of unknown function DUF88 (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.86502	2.82	0.45822	D	0.998695	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.87554	0.2467	9	0.87932	D	0	.	18.8153	0.92075	0.0:0.0:1.0:0.0	.	442;440;439;442	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Q	443;443;442;265;440;443;443	.	ENSP00000315718:P442Q	P	-	2	0	KIAA0430	15632762	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	9.199000	0.95003	2.442000	0.82660	0.650000	0.86243	CCA	KIAA0430	-	pfam_NYN_limkain-b1	ENSG00000166783		0.448	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	47	0.00	0	G	NM_014647		15725261	15725261	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
KIAA0895	23366	genome.wustl.edu	37	7	36423487	36423487	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr7:36423487T>A	ENST00000297063.6	-	2	209	c.159A>T	c.(157-159)aaA>aaT	p.K53N		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	53										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAACTTGAGTTTAGCTCTTC	0.338																																						dbGAP											0													126.0	118.0	120.0					7																	36423487		1821	4083	5904	-	-	-	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.159A>T	7.37:g.36423487T>A	ENSP00000297063:p.Lys53Asn		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.K53N	ENST00000297063.6	37	c.159	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	T	8.564	0.878573	0.17395	.	.	ENSG00000164542	ENST00000297063;ENST00000429651	.	.	.	4.05	0.356	0.16074	.	.	.	.	.	T	0.20941	0.0504	N	0.22421	0.69	0.24750	N	0.992984	B	0.31318	0.319	B	0.26094	0.066	T	0.16571	-1.0398	8	0.72032	D	0.01	-1.8034	6.0087	0.19562	0.0:0.3615:0.0:0.6385	.	53	Q8NCT3	K0895_HUMAN	N	53	.	ENSP00000297063:K53N	K	-	3	2	KIAA0895	36390012	0.769000	0.28531	0.267000	0.24556	0.621000	0.37620	-0.043000	0.12043	0.062000	0.16340	0.459000	0.35465	AAA	KIAA0895	-	NULL	ENSG00000164542		0.338	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	51	0.00	0	T	NM_015314		36423487	36423487	-1	no_errors	ENST00000297063	ensembl	human	known	69_37n	missense	16	15.79	3	SNP	0.338	A
KRT86	3892	genome.wustl.edu	37	12	52695896	52695896	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr12:52695896C>T	ENST00000423955.2	+	3	374	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	KRT86_ENST00000293525.5_Missense_Mutation_p.R66C|KRT86_ENST00000544024.1_Missense_Mutation_p.R66C			O43790	KRT86_HUMAN	keratin 86	66	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCGGCTACCGCTCCGGGGG	0.706																																						dbGAP											0													3.0	4.0	4.0					12																	52695896		937	2307	3244	-	-	-	SO:0001583	missense	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.196C>T	12.37:g.52695896C>T	ENSP00000444533:p.Arg66Cys		P78387	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R66C	ENST00000423955.2	37	c.196	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557105	0.65425	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.75477	-0.94;-0.94;-0.94	5.0	5.0	0.66597	.	0.000000	0.35207	U	0.003372	D	0.86381	0.5919	M	0.84846	2.72	0.52099	D	0.999947	D	0.89917	1.0	D	0.68621	0.959	D	0.86955	0.2088	10	0.41790	T	0.15	.	15.4271	0.75061	0.0:1.0:0.0:0.0	.	66	O43790	KRT86_HUMAN	C	66	ENSP00000443169:R66C;ENSP00000444533:R66C;ENSP00000293525:R66C	ENSP00000293525:R66C	R	+	1	0	AC021066.1;KRT86	50982163	0.358000	0.24947	1.000000	0.80357	0.363000	0.29612	0.804000	0.27098	2.316000	0.78162	0.637000	0.83480	CGC	AC021066.1	-	NULL	ENSG00000170442		0.706	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404911.1	14	0.00	0	C	NM_002284		52695896	52695896	+1	no_errors	ENST00000293525	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	1.000	T
LINC00618	145249	genome.wustl.edu	37	14	97411646	97411646	+	lincRNA	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr14:97411646C>T	ENST00000435624.1	+	0	363				AL133168.3_ENST00000557090.1_RNA					long intergenic non-protein coding RNA 618																		GACCTACCCGCTCAGAAAGAC	0.502																																						dbGAP											0																																										-	-	-			0			AA055628		14q32.2	2012-10-12	2012-07-05	2012-07-05	ENSG00000225163	ENSG00000225163		"""Long non-coding RNAs"""	20110	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 63"""	C14orf63			Standard	NR_104113		Approved				OTTHUMG00000171460		14.37:g.97411646C>T				RNA	SNP	-	NULL	ENST00000435624.1	37	NULL		14																																																																																			LINC00618	-	-	ENSG00000225163		0.502	LINC00618-001	KNOWN	basic	lincRNA	LINC00618	HGNC	lincRNA	OTTHUMT00000072303.1	33	0.00	0	C			97411646	97411646	+1	no_errors	ENST00000435624	ensembl	human	known	69_37n	rna	19	47.22	17	SNP	0.011	T
KMT2E	55904	genome.wustl.edu	37	7	104703871	104703871	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr7:104703871A>G	ENST00000311117.3	+	5	805	c.260A>G	c.(259-261)aAt>aGt	p.N87S	KMT2E_ENST00000257745.4_Missense_Mutation_p.N87S|KMT2E_ENST00000476671.1_Missense_Mutation_p.N87S|KMT2E_ENST00000334877.4_Missense_Mutation_p.N87S|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	87					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATTAGCAAAAATGAAGTAGGC	0.423																																						dbGAP											0													120.0	117.0	118.0					7																	104703871		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.260A>G	7.37:g.104703871A>G	ENSP00000312379:p.Asn87Ser		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.N87S	ENST00000311117.3	37	c.260	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	13.02	2.111629	0.37242	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000537308	D;D;D;T;D	0.93133	-2.82;-2.44;-2.82;1.59;-3.17	5.46	5.46	0.80206	Zinc finger, FYVE/PHD-type (1);	0.223450	0.46758	D	0.000269	D	0.87977	0.6314	N	0.03608	-0.345	0.80722	D	1	D;P	0.56968	0.978;0.739	P;B	0.54140	0.743;0.291	D	0.86170	0.1599	10	0.09590	T	0.72	.	15.8148	0.78592	1.0:0.0:0.0:0.0	.	87;87	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	S	87;87;87;87;87;87;87;21	ENSP00000312379:N87S;ENSP00000335599:N87S;ENSP00000257745:N87S;ENSP00000420415:N87S;ENSP00000417888:N87S	ENSP00000257745:N87S	N	+	2	0	MLL5	104491107	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.029000	0.76477	2.200000	0.70718	0.477000	0.44152	AAT	MLL5	-	superfamily_Znf_FYVE_PHD	ENSG00000005483		0.423	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	46	0.00	0	A			104703871	104703871	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	missense	25	35.00	14	SNP	1.000	G
MUC5B	727897	genome.wustl.edu	37	11	1263006	1263006	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr11:1263006G>C	ENST00000529681.1	+	31	4954	c.4896G>C	c.(4894-4896)caG>caC	p.Q1632H	MUC5B_ENST00000447027.1_Missense_Mutation_p.Q1635H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1632	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACGCCGCAGCCTACGAGTA	0.672																																						dbGAP											0													23.0	29.0	27.0					11																	1263006		2050	4168	6218	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4896G>C	11.37:g.1263006G>C	ENSP00000436812:p.Gln1632His		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Q1635H	ENST00000529681.1	37	c.4905	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	6.081	0.383228	0.11524	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17213	2.29;2.48	2.83	-3.76	0.04359	.	.	.	.	.	T	0.08044	0.0201	N	0.14661	0.345	0.09310	N	1	B;B	0.15719	0.007;0.014	B;B	0.10450	0.002;0.005	T	0.34030	-0.9845	9	0.87932	D	0	.	3.5982	0.08014	0.4204:0.0:0.3051:0.2744	.	2325;1635	A7Y9J9;E9PBJ0	.;.	H	1632;1635;1633;1702	ENSP00000436812:Q1632H;ENSP00000415793:Q1635H	ENSP00000343037:Q1633H	Q	+	3	2	MUC5B	1219582	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.887000	0.04152	-0.746000	0.04766	-0.676000	0.03789	CAG	MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	23	0.00	0	G	XM_001126093		1263006	1263006	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	0.000	C
NOTCH1	4851	genome.wustl.edu	37	9	139400222	139400222	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr9:139400222C>T	ENST00000277541.6	-	25	4201	c.4126G>A	c.(4126-4128)Ggc>Agc	p.G1376S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1376	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGAAGGGGCCCAGGCACAGG	0.701			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												dbGAP		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													10.0	13.0	12.0					9																	139400222		1820	3968	5788	-	-	-	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4126G>A	9.37:g.139400222C>T	ENSP00000277541:p.Gly1376Ser		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G1376S	ENST00000277541.6	37	c.4126	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	5.716	0.316528	0.10845	.	.	ENSG00000148400	ENST00000277541	D	0.91521	-2.86	4.73	1.67	0.24075	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.470866	0.20785	U	0.085735	T	0.68229	0.2978	N	0.01482	-0.84	0.27536	N	0.950938	B	0.12013	0.005	B	0.11329	0.006	T	0.60989	-0.7153	10	0.02654	T	1	.	6.9519	0.24550	0.0:0.5939:0.2426:0.1635	.	1376	P46531	NOTC1_HUMAN	S	1376	ENSP00000277541:G1376S	ENSP00000277541:G1376S	G	-	1	0	NOTCH1	138520043	0.007000	0.16637	0.568000	0.28447	0.564000	0.35744	0.865000	0.27940	0.425000	0.26087	0.643000	0.83706	GGC	NOTCH1	-	pirsf_Notch,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000148400		0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	39	0.00	0	C	NM_017617		139400222	139400222	-1	no_errors	ENST00000277541	ensembl	human	known	69_37n	missense	25	46.81	22	SNP	0.674	T
NRIP1	8204	genome.wustl.edu	37	21	16340003	16340004	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr21:16340003_16340004insTT	ENST00000400202.1	-	3	1222_1223	c.510_511insAA	c.(508-513)aaagtgfs	p.V171fs	NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.V171fs|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.V171fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	171	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCCTTCTCCACTTTTAAAGAAT	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.509_510dupAA	21.37:g.16340006_16340007dupTT	ENSP00000383063:p.Val171fs		Q8IWE8	Frame_Shift_Ins	INS	NULL	p.V170fs	ENST00000400202.1	37	c.511_510	CCDS13568.1	21																																																																																			NRIP1	-	NULL	ENSG00000180530		0.406	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	61	0.00	0	-	NM_003489		16340003	16340004	-1	no_errors	ENST00000318948	ensembl	human	known	69_37n	frame_shift_ins	24	29.41	10	INS	1.000:0.999	TT
PIGA	5277	genome.wustl.edu	37	X	15342880	15342880	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chrX:15342880T>A	ENST00000333590.4	-	5	1179	c.1095A>T	c.(1093-1095)caA>caT	p.Q365H	PIGA_ENST00000542278.1_Missense_Mutation_p.Q131H|PIGA_ENST00000428964.1_Missense_Mutation_p.Q50H|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	365					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CTGACTTCAGTTGGAAAATAG	0.398																																						dbGAP											0													143.0	131.0	135.0					X																	15342880		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1095A>T	X.37:g.15342880T>A	ENSP00000369820:p.Gln365His		B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.Q365H	ENST00000333590.4	37	c.1095	CCDS14165.1	X	.	.	.	.	.	.	.	.	.	.	T	12.63	1.997118	0.35226	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	T	0.75367	-0.93	5.99	-2.35	0.06684	.	0.302554	0.33959	N	0.004396	T	0.68869	0.3048	N	0.17474	0.49	0.09310	N	0.999998	P;D;P	0.61080	0.75;0.989;0.95	P;P;P	0.60789	0.637;0.879;0.667	T	0.67480	-0.5660	10	0.39692	T	0.17	-5.5076	13.4417	0.61117	0.0:0.6492:0.0:0.3508	.	131;196;365	B4E0V2;P37287-2;P37287	.;.;PIGA_HUMAN	H	131;365;50	ENSP00000369820:Q365H	ENSP00000369820:Q365H	Q	-	3	2	PIGA	15252801	0.997000	0.39634	0.004000	0.12327	0.062000	0.15995	0.771000	0.26633	-0.453000	0.07076	0.486000	0.48141	CAA	PIGA	-	NULL	ENSG00000165195		0.398	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	47	0.00	0	T	NM_002641		15342880	15342880	-1	no_errors	ENST00000333590	ensembl	human	known	69_37n	missense	11	20.00	3	SNP	0.089	A
PPP1R37	284352	genome.wustl.edu	37	19	45649032	45649032	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr19:45649032G>A	ENST00000221462.4	+	11	2082	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PPP1R37_ENST00000421905.1_Missense_Mutation_p.R569Q	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	573	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GTGGTGACCCGGGTGGAGAGC	0.726																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.1718G>A	19.37:g.45649032G>A	ENSP00000221462:p.Arg573Gln		B5MDA4|Q8IWK3|Q8TF16	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R573Q	ENST00000221462.4	37	c.1718	CCDS56096.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237156	0.79800	.	.	ENSG00000104866	ENST00000421905;ENST00000221462	D;D	0.84070	-1.8;-1.54	4.5	4.5	0.54988	.	.	.	.	.	D	0.88362	0.6416	L	0.53249	1.67	0.32289	N	0.5666	D	0.89917	1.0	D	0.69654	0.965	D	0.89509	0.3770	9	0.66056	D	0.02	-15.7846	14.7337	0.69402	0.0:0.0:1.0:0.0	.	573	B5MDA4	.	Q	569;573	ENSP00000390861:R569Q;ENSP00000221462:R573Q	ENSP00000221462:R573Q	R	+	2	0	LRRC68	50340872	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.755000	0.91646	2.339000	0.79563	0.462000	0.41574	CGG	PPP1R37	-	NULL	ENSG00000104866		0.726	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	24	0.00	0	G	NM_173634		45649032	45649032	+1	no_errors	ENST00000221462	ensembl	human	known	69_37n	missense	10	26.67	4	SNP	1.000	A
PRICKLE2	166336	genome.wustl.edu	37	3	64084954	64084954	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr3:64084954C>T	ENST00000295902.6	-	8	2893	c.2308G>A	c.(2308-2310)Gcc>Acc	p.A770T	PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A826T	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	770					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCATACTCGGCGAAGTAGGGT	0.612																																						dbGAP											0													64.0	66.0	66.0					3																	64084954		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2308G>A	3.37:g.64084954C>T	ENSP00000295902:p.Ala770Thr		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A770T	ENST00000295902.6	37	c.2308	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	C	3.707	-0.060396	0.07317	.	.	ENSG00000163637	ENST00000295902	D	0.84944	-1.92	5.57	-3.85	0.04243	.	0.806042	0.11411	N	0.566766	T	0.72835	0.3510	L	0.40543	1.245	0.09310	N	1	P	0.44006	0.824	B	0.30855	0.121	T	0.60459	-0.7259	10	0.30854	T	0.27	-9.8693	14.3758	0.66874	0.0:0.7287:0.0:0.2713	.	770	Q7Z3G6	PRIC2_HUMAN	T	770	ENSP00000295902:A770T	ENSP00000295902:A770T	A	-	1	0	PRICKLE2	64059994	0.095000	0.21747	0.004000	0.12327	0.133000	0.20885	-0.120000	0.10660	-1.028000	0.03321	-0.140000	0.14226	GCC	PRICKLE2	-	NULL	ENSG00000163637		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1	30	0.00	0	C	NM_198859		64084954	64084954	-1	no_errors	ENST00000295902	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	0.186	T
PTP4A2	8073	genome.wustl.edu	37	1	32384789	32384792	+	5'UTR	DEL	ATCA	ATCA	-			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	ATCA	ATCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr1:32384789_32384792delATCA	ENST00000602725.1	-	0	292_295				RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000457805.2_5'UTR|PTP4A2_ENST00000344035.6_5'UTR|PTP4A2_ENST00000356536.3_5'UTR|PTP4A2_ENST00000470404.1_5'Flank|PTP4A2_ENST00000526960.1_5'UTR			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2						peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				AATGCCTATTATCAATCAGTGTTT	0.319																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.-126TGAT>-	1.37:g.32384793_32384796delATCA			A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	RNA	DEL	-	NULL	ENST00000602725.1	37	NULL	CCDS348.1	1																																																																																			PTP4A2	-	-	ENSG00000184007		0.319	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A2	HGNC	protein_coding	OTTHUMT00000468092.1	13	0.00	0	ATCA	NM_080391		32384789	32384792	-1	no_errors	ENST00000526960	ensembl	human	putative	69_37n	rna	7	50.00	7	DEL	0.940:0.897:0.372:0.298	-
RALYL	138046	genome.wustl.edu	37	8	85785620	85785620	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr8:85785620delA	ENST00000521268.1	+	7	1778	c.673delA	c.(673-675)aagfs	p.K225fs	RALYL_ENST00000518566.1_Frame_Shift_Del_p.K214fs|RALYL_ENST00000522455.1_Frame_Shift_Del_p.K225fs|RALYL_ENST00000517638.1_Frame_Shift_Del_p.K238fs|RALYL_ENST00000521695.1_Frame_Shift_Del_p.K225fs|RALYL_ENST00000523850.1_Frame_Shift_Del_p.K152fs|RALYL_ENST00000521376.1_Frame_Shift_Del_p.K136fs	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	225							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAAACAGCAGAAGGCGGAGGC	0.453																																						dbGAP											0													44.0	44.0	44.0					8																	85785620		1943	4122	6065	-	-	-	SO:0001589	frameshift_variant	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.673delA	8.37:g.85785620delA	ENSP00000430367:p.Lys225fs		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.K225fs	ENST00000521268.1	37	c.673	CCDS55253.1	8																																																																																			RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.453	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	28	0.00	0	A			85785620	85785620	+1	no_errors	ENST00000521268	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
SLC16A5	9121	genome.wustl.edu	37	17	73100170	73100172	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr17:73100170_73100172delAGA	ENST00000450736.2	+	5	1674_1676	c.1259_1261delAGA	c.(1258-1263)cagaag>cag	p.K422del	SLC16A5_ENST00000580123.1_In_Frame_Del_p.K422del|SLC16A5_ENST00000329783.4_In_Frame_Del_p.K422del|SLC16A5_ENST00000538213.2_In_Frame_Del_p.K462del			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	422					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TACGCCCTGCAGAAGAAGGAGCA	0.562																																						dbGAP											0										137,4127		68,1,2063						-2.9	0.0			97	254,8000		127,0,4000	no	coding	SLC16A5	NM_004695.2		195,1,6063	A1A1,A1R,RR		3.0773,3.2129,3.1235				391,12127				-	-	-	SO:0001651	inframe_deletion	0			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1259_1261delAGA	17.37:g.73100173_73100175delAGA	ENSP00000390564:p.Lys422del		B4E288	In_Frame_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.K422in_frame_del	ENST00000450736.2	37	c.1259_1261	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000170190		0.562	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	45	0.00	0	AGA	NM_004695		73100170	73100172	+1	no_errors	ENST00000329783	ensembl	human	known	69_37n	in_frame_del	12	69.05	29	DEL	0.922:0.979:0.996	-
SLCO1B7	338821	genome.wustl.edu	37	12	21220258	21220258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr12:21220258delT	ENST00000421593.2	+	11	1547	c.1547delT	c.(1546-1548)gttfs	p.V516fs	SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.V563fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.V624fs|RP11-125O5.2_ENST00000590779.1_Frame_Shift_Del_p.F17fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.V624fs|LST3_ENST00000381541.3_Frame_Shift_Del_p.V563fs	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	516						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACAGGATTGTTCAACCTGAA	0.279																																						dbGAP											0													68.0	67.0	67.0					12																	21220258		2121	4269	6390	-	-	-	SO:0001589	frameshift_variant	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1547delT	12.37:g.21220258delT	ENSP00000394168:p.Val516fs		Q71QF0	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.Q625fs	ENST00000421593.2	37	c.1871	CCDS44843.1	12																																																																																			SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000111700		0.279	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000402066.1	51	0.00	0	T	NM_001009562		21220258	21220258	+1	no_errors	ENST00000553473	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.184	-
SLTM	79811	genome.wustl.edu	37	15	59179738	59179738	+	Splice_Site	SNP	G	G	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr15:59179738G>A	ENST00000380516.2	-	18	2464	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Splice_Site_p.R362W	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	793	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGCGATCCCGCCTATTGATT	0.393																																						dbGAP											0													69.0	65.0	66.0					15																	59179738		2192	4292	6484	-	-	-	SO:0001630	splice_region_variant	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2376-1C>T	15.37:g.59179738G>A			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.R793W	ENST00000380516.2	37	c.2377	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701152	0.68501	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.14893	2.47	5.68	2.66	0.31614	.	0.000000	0.51477	D	0.000099	T	0.40398	0.1115	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.27088	-1.0084	10	0.66056	D	0.02	.	14.7135	0.69251	0.0:0.0:0.6202:0.3798	.	793;362	Q9NWH9;A8K5V8	SLTM_HUMAN;.	W	793;359;362	ENSP00000369887:R793W	ENSP00000369887:R793W	R	-	1	2	SLTM	56967030	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	4.719000	0.61937	0.282000	0.22254	-0.309000	0.09137	CGG	SLTM	-	NULL	ENSG00000137776		0.393	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	65	0.00	0	G	NM_024755	Missense_Mutation	59179738	59179738	-1	no_errors	ENST00000380516	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	1.000	A
WDR13	64743	genome.wustl.edu	37	X	48458086	48458086	+	Silent	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chrX:48458086C>T	ENST00000218056.5	+	4	1009	c.504C>T	c.(502-504)gaC>gaT	p.D168D	WDR13_ENST00000376729.5_Silent_p.D168D|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						ATGTTTTTGACCAGCACGTGG	0.572																																						dbGAP											0													92.0	78.0	83.0					X																	48458086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.504C>T	X.37:g.48458086C>T			Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D168	ENST00000218056.5	37	c.504	CCDS14302.1	X																																																																																			WDR13	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000101940		0.572	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	32	0.00	0	C			48458086	48458086	+1	no_errors	ENST00000218056	ensembl	human	known	69_37n	silent	3	76.92	10	SNP	1.000	T
ZNF385D	79750	genome.wustl.edu	37	3	21478513	21478513	+	Silent	SNP	G	G	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr3:21478513G>A	ENST00000281523.2	-	5	1140	c.622C>T	c.(622-624)Cta>Tta	p.L208L	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	208						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ACCTTGCATAGCGAACAGTAA	0.473																																						dbGAP											0													172.0	143.0	153.0					3																	21478513		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.622C>T	3.37:g.21478513G>A				Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.L208	ENST00000281523.2	37	c.622	CCDS2636.1	3																																																																																			ZNF385D	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000151789		0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	181	0.00	0	G	NM_024697		21478513	21478513	-1	no_errors	ENST00000281523	ensembl	human	known	69_37n	silent	69	47.33	62	SNP	0.954	A
ZNF518B	85460	genome.wustl.edu	37	4	10445820	10445820	+	Silent	SNP	G	G	A			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr4:10445820G>A	ENST00000326756.3	-	3	2571	c.2133C>T	c.(2131-2133)aaC>aaT	p.N711N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	711					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N711K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAGTGACACGTTGATTTCTT	0.443																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											107.0	106.0	106.0					4																	10445820		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2133C>T	4.37:g.10445820G>A			Q96LN8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N711	ENST00000326756.3	37	c.2133	CCDS33960.1	4																																																																																			ZNF518B	-	NULL	ENSG00000178163		0.443	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	35	0.00	0	G	NM_053042		10445820	10445820	-1	no_errors	ENST00000326756	ensembl	human	known	69_37n	silent	12	53.85	14	SNP	0.000	A
ZNF707	286075	genome.wustl.edu	37	8	144773090	144773090	+	Intron	SNP	C	C	T			TCGA-E9-A5UO-01A-11D-A28B-09	TCGA-E9-A5UO-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc23e9b3-7347-405e-8a21-72955541757e	ff54d8e4-64f8-48eb-8b2e-314142645eb6	g.chr8:144773090C>T	ENST00000532205.1	+	6	914				ZNF707_ENST00000358656.4_Intron|ZNF707_ENST00000454097.1_Intron|ZNF707_ENST00000532158.1_Intron|ZNF707_ENST00000418203.2_Intron|ZNF707_ENST00000442058.2_Intron			Q96C28	ZN707_HUMAN	zinc finger protein 707						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			cagacacagccactcggggct	0.587																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.16-153C>T	8.37:g.144773090C>T			A8K317|B3KNY1|D3DWK7	RNA	SNP	-	NULL	ENST00000532205.1	37	NULL	CCDS47932.1	8																																																																																			ZNF707	-	-	ENSG00000181135		0.587	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	15	0.00	0	C	NM_173831		144773090	144773090	+1	no_errors	ENST00000530341	ensembl	human	known	69_37n	rna	8	57.89	11	SNP	0.001	T
