#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
ABAT	18	genome.wustl.edu	37	16	8875208	8875208	+	Missense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr16:8875208G>A	ENST00000396600.2	+	16	2362	c.1424G>A	c.(1423-1425)cGt>cAt	p.R475H	ABAT_ENST00000425191.2_Missense_Mutation_p.R475H|ABAT_ENST00000567812.1_Missense_Mutation_p.R490H|ABAT_ENST00000569156.1_Missense_Mutation_p.V495I|ABAT_ENST00000268251.8_Missense_Mutation_p.R475H|TMEM186_ENST00000564869.1_5'UTR	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	475					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATTCGTTTCCGTCCCACGCTG	0.498																																						dbGAP											0													208.0	159.0	176.0					16																	8875208		2197	4300	6497	-	-	-	SO:0001583	missense	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1424G>A	16.37:g.8875208G>A	ENSP00000379845:p.Arg475His		A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.R475H	ENST00000396600.2	37	c.1424	CCDS10534.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.149405	0.94645	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.30448	1.53;1.53;1.53	5.39	5.39	0.77823	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75695	-0.3228	10	0.87932	D	0	-13.8493	18.1344	0.89614	0.0:0.0:1.0:0.0	.	475	P80404	GABT_HUMAN	H	475	ENSP00000268251:R475H;ENSP00000379845:R475H;ENSP00000411916:R475H	ENSP00000268251:R475H	R	+	2	0	ABAT	8782709	1.000000	0.71417	0.984000	0.44739	0.864000	0.49448	9.695000	0.98691	2.526000	0.85167	0.549000	0.68633	CGT	ABAT	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	ENSG00000183044		0.498	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	73	0.00	0	G	NM_020686		8875208	8875208	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	missense	12	75.00	39	SNP	1.000	A
ABCA12	26154	genome.wustl.edu	37	2	215851351	215851351	+	Missense_Mutation	SNP	C	C	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:215851351C>A	ENST00000272895.7	-	28	4297	c.4078G>T	c.(4078-4080)Gct>Tct	p.A1360S	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1042S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1360	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCAACAGCAACTTTTGAG	0.428																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													96.0	90.0	92.0					2																	215851351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4078G>T	2.37:g.215851351C>A	ENSP00000272895:p.Ala1360Ser		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1360S	ENST00000272895.7	37	c.4078	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.272699	0.95429	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.94723	-3.5;-3.5	5.61	5.61	0.85477	ABC transporter-like (1);	0.000000	0.64402	D	0.000004	D	0.97939	0.9322	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.98076	1.0401	10	0.54805	T	0.06	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1360;1042	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	1360;1042	ENSP00000272895:A1360S;ENSP00000374312:A1042S	ENSP00000272895:A1360S	A	-	1	0	ABCA12	215559596	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	7.818000	0.86416	2.640000	0.89533	0.563000	0.77884	GCT	ABCA12	-	pfscan_ABC_transporter-like	ENSG00000144452		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	65	0.00	0	C	NM_173076		215851351	215851351	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	6	82.86	29	SNP	1.000	A
ADSS	159	genome.wustl.edu	37	1	244615099	244615099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:244615099G>T	ENST00000366535.3	-	1	337	c.21C>A	c.(19-21)taC>taA	p.Y7*		NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			ATGCCGCCGGGTAGGTCTCGG	0.726																																						dbGAP											0													13.0	12.0	12.0					1																	244615099		2185	4281	6466	-	-	-	SO:0001587	stop_gained	0			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.21C>A	1.37:g.244615099G>T	ENSP00000355493:p.Tyr7*			Nonsense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.Y7*	ENST00000366535.3	37	c.21	CCDS1624.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.633151	0.97722	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	.	.	.	4.63	3.71	0.42584	.	1.284830	0.04732	N	0.421244	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3656	11.41	0.49921	0.0:0.0:0.8194:0.1806	.	.	.	.	X	7	.	ENSP00000355493:Y7X	Y	-	3	2	ADSS	242681722	.	.	0.986000	0.45419	0.406000	0.30931	.	.	1.168000	0.42723	0.411000	0.27672	TAC	ADSS	-	NULL	ENSG00000035687		0.726	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	HGNC	protein_coding	OTTHUMT00000096697.1	27	0.00	0	G	NM_001126		244615099	244615099	-1	no_errors	ENST00000366535	ensembl	human	known	69_37n	nonsense	18	48.57	17	SNP	0.003	T
AFAP1	60312	genome.wustl.edu	37	4	7774593	7774593	+	Missense_Mutation	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr4:7774593G>C	ENST00000360265.4	-	14	2189	c.1955C>G	c.(1954-1956)aCc>aGc	p.T652S	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.T736S|AFAP1_ENST00000420658.1_Missense_Mutation_p.T736S|AFAP1_ENST00000358461.2_Missense_Mutation_p.T652S|AFAP1-AS1_ENST00000608442.1_RNA			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	652						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAGCCCCAGGGTGACTCCGCC	0.672																																						dbGAP											0													44.0	45.0	45.0					4																	7774593		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1955C>G	4.37:g.7774593G>C	ENSP00000353402:p.Thr652Ser		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T736S	ENST00000360265.4	37	c.2207	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447636	0.84101	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.18960	2.21;2.18;2.21;2.18	4.9	4.9	0.64082	.	0.056640	0.64402	D	0.000001	T	0.48277	0.1491	M	0.75777	2.31	0.40906	D	0.984194	D;D	0.76494	0.997;0.999	D;D	0.79784	0.97;0.993	T	0.52328	-0.8590	10	0.52906	T	0.07	-40.7014	18.0557	0.89363	0.0:0.0:1.0:0.0	.	736;652	E9PDT7;Q8N556	.;AFAP1_HUMAN	S	652;736;652;736	ENSP00000353402:T652S;ENSP00000410689:T736S;ENSP00000351245:T652S;ENSP00000371983:T736S	ENSP00000351245:T652S	T	-	2	0	AFAP1	7825493	1.000000	0.71417	0.739000	0.30968	0.865000	0.49528	7.229000	0.78088	2.255000	0.74692	0.436000	0.28706	ACC	AFAP1	-	NULL	ENSG00000196526		0.672	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	31	0.00	0	G	NM_021638		7774593	7774593	-1	no_errors	ENST00000420658	ensembl	human	known	69_37n	missense	8	50.00	9	SNP	1.000	C
ANAPC4	29945	genome.wustl.edu	37	4	25390489	25390489	+	Missense_Mutation	SNP	T	T	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr4:25390489T>C	ENST00000315368.3	+	7	642	c.500T>C	c.(499-501)cTc>cCc	p.L167P	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167P	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ATTATTAAGCTCTTGGGAGAC	0.294																																						dbGAP											0													44.0	50.0	48.0					4																	25390489		2179	4285	6464	-	-	-	SO:0001583	missense	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.500T>C	4.37:g.25390489T>C	ENSP00000318775:p.Leu167Pro		A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.L167P	ENST00000315368.3	37	c.500	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343592	0.82022	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.37584	1.19;1.19	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58267	-0.7666	10	0.39692	T	0.17	-16.3323	16.542	0.84395	0.0:0.0:0.0:1.0	.	167	Q9UJX5	APC4_HUMAN	P	167	ENSP00000318775:L167P;ENSP00000426654:L167P	ENSP00000318775:L167P	L	+	2	0	ANAPC4	24999587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.304000	0.77564	0.528000	0.53228	CTC	ANAPC4	-	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	ENSG00000053900		0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1	54	0.00	0	T	NM_013367		25390489	25390489	+1	no_errors	ENST00000510092	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	1.000	C
ANGPTL7	10218	genome.wustl.edu	37	1	11254927	11254927	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:11254927C>G	ENST00000376819.3	+	5	1127	c.888C>G	c.(886-888)aaC>aaG	p.N296K	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	296	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGGTACAACTGCTGCACAG	0.512																																						dbGAP											0													122.0	100.0	107.0					1																	11254927		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.888C>G	1.37:g.11254927C>G	ENSP00000366015:p.Asn296Lys		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.N296K	ENST00000376819.3	37	c.888	CCDS128.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136699	0.77662	.	.	ENSG00000171819	ENST00000376819	D	0.81739	-1.53	5.37	2.42	0.29668	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.040341	0.85682	N	0.000000	D	0.82476	0.5045	L	0.46741	1.465	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.77653	-0.2507	10	0.25751	T	0.34	.	8.8587	0.35245	0.1242:0.7431:0.0:0.1327	.	296	O43827	ANGL7_HUMAN	K	296	ENSP00000366015:N296K	ENSP00000366015:N296K	N	+	3	2	ANGPTL7	11177514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.278000	0.51662	0.751000	0.32900	0.655000	0.94253	AAC	ANGPTL7	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000171819		0.512	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL7	HGNC	protein_coding	OTTHUMT00000005564.1	58	0.00	0	C	NM_021146		11254927	11254927	+1	no_errors	ENST00000376819	ensembl	human	known	69_37n	missense	2	92.00	23	SNP	1.000	G
ARHGAP24	83478	genome.wustl.edu	37	4	86893257	86893257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr4:86893257delT	ENST00000395184.1	+	6	1134	c.668delT	c.(667-669)attfs	p.I223fs	ARHGAP24_ENST00000503995.1_Frame_Shift_Del_p.I223fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Del_p.I128fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Del_p.I130fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	223	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GAACCAGTTATTCCTTATGCG	0.408																																						dbGAP											0													120.0	111.0	114.0					4																	86893257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.668delT	4.37:g.86893257delT	ENSP00000378611:p.Ile223fs		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.P224fs	ENST00000395184.1	37	c.668	CCDS34025.1	4																																																																																			ARHGAP24	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000138639		0.408	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	74	0.00	0	T	NM_031305		86893257	86893257	+1	no_errors	ENST00000395184	ensembl	human	known	69_37n	frame_shift_del	6	76.67	23	DEL	0.998	-
ARSH	347527	genome.wustl.edu	37	X	2936644	2936644	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chrX:2936644G>T	ENST00000381130.2	+	5	834	c.834G>T	c.(832-834)aaG>aaT	p.K278N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	278					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCTCCAAAAAGAAGTTTGTTG	0.398																																						dbGAP											0													119.0	112.0	114.0					X																	2936644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.834G>T	X.37:g.2936644G>T	ENSP00000370522:p.Lys278Asn			Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.K278N	ENST00000381130.2	37	c.834	CCDS35198.1	X	.	.	.	.	.	.	.	.	.	.	G	1.690	-0.504143	0.04261	.	.	ENSG00000205667	ENST00000381130	D	0.94280	-3.39	3.87	-0.38	0.12490	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.809669	0.11300	N	0.578288	D	0.88930	0.6571	L	0.51422	1.61	0.09310	N	1	B	0.23128	0.08	B	0.31946	0.138	T	0.76493	-0.2939	10	0.35671	T	0.21	.	2.4446	0.04503	0.1673:0.2624:0.4326:0.1377	.	278	Q5FYA8	ARSH_HUMAN	N	278	ENSP00000370522:K278N	ENSP00000370522:K278N	K	+	3	2	ARSH	2946644	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	0.001000	0.13038	-0.673000	0.05259	0.594000	0.82650	AAG	ARSH	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000205667		0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSH	HGNC	protein_coding	OTTHUMT00000356489.1	112	0.00	0	G	NM_001011719		2936644	2936644	+1	no_errors	ENST00000381130	ensembl	human	known	69_37n	missense	137	22.91	41	SNP	0.021	T
BPIFB4	149954	genome.wustl.edu	37	20	31678569	31678569	+	Silent	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr20:31678569G>A	ENST00000375483.3	+	8	1107	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	369						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCAGCCTCCCGCTTGTGACCG	0.592																																						dbGAP											0													100.0	84.0	89.0					20																	31678569		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1107G>A	20.37:g.31678569G>A			Q5TDX6	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P369	ENST00000375483.3	37	c.1107	CCDS13213.2	20																																																																																			BPIFB4	-	superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186191		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	87	0.00	0	G	NM_182519		31678569	31678569	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	silent	33	50.75	34	SNP	0.927	A
CHST15	51363	genome.wustl.edu	37	10	125801928	125801928	+	Missense_Mutation	SNP	A	A	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr10:125801928A>G	ENST00000346248.5	-	4	1564	c.922T>C	c.(922-924)Tat>Cat	p.Y308H	CHST15_ENST00000435907.1_Missense_Mutation_p.Y308H|CHST15_ENST00000421115.1_Missense_Mutation_p.Y308H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	308					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCACGGGATAGCGGTCTCGC	0.542																																						dbGAP											0													111.0	96.0	101.0					10																	125801928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.922T>C	10.37:g.125801928A>G	ENSP00000333947:p.Tyr308His		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.Y308H	ENST00000346248.5	37	c.922	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677314	0.88445	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.72	5.72	0.89469	Sulfotransferase domain (1);	0.126503	0.56097	D	0.000040	T	0.61375	0.2342	L	0.32530	0.975	0.51012	D	0.999903	D;D	0.59767	0.986;0.964	P;P	0.57152	0.814;0.677	T	0.58999	-0.7536	9	0.32370	T	0.25	-41.9321	16.0205	0.80486	1.0:0.0:0.0:0.0	.	308;308	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	308	.	ENSP00000333947:Y308H	Y	-	1	0	CHST15	125791918	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.717000	0.91425	2.194000	0.70268	0.533000	0.62120	TAT	CHST15	-	pfam_Sulfotransferase_dom	ENSG00000182022		0.542	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	55	0.00	0	A	NM_015892		125801928	125801928	-1	no_errors	ENST00000346248	ensembl	human	known	69_37n	missense	40	47.44	37	SNP	1.000	G
CLDN2	9075	genome.wustl.edu	37	X	106171891	106171891	+	Missense_Mutation	SNP	C	C	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chrX:106171891C>T	ENST00000541806.1	+	2	952	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	CLDN2_ENST00000540876.1_Missense_Mutation_p.R145W|CLDN2_ENST00000336803.1_Missense_Mutation_p.R145W	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	145					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGGATCCTACGGGACTTCTA	0.507																																						dbGAP											0													153.0	144.0	147.0					X																	106171891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.433C>T	X.37:g.106171891C>T	ENSP00000441283:p.Arg145Trp		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.R145W	ENST00000541806.1	37	c.433	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877782	0.51801	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89270	-2.49;-2.49;-2.49	5.25	2.2	0.27929	.	0.119521	0.56097	D	0.000026	D	0.92681	0.7674	M	0.78049	2.395	0.42720	D	0.99367	D	0.89917	1.0	D	0.65140	0.932	D	0.91925	0.5550	10	0.66056	D	0.02	.	11.0228	0.47728	0.6314:0.3686:0.0:0.0	.	145	P57739	CLD2_HUMAN	W	145	ENSP00000441283:R145W;ENSP00000443230:R145W;ENSP00000336571:R145W	ENSP00000336571:R145W	R	+	1	2	CLDN2	106058547	0.224000	0.23674	0.902000	0.35471	0.992000	0.81027	0.812000	0.27211	0.382000	0.24878	0.523000	0.50628	CGG	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000165376		0.507	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1	141	0.00	0	C			106171891	106171891	+1	no_errors	ENST00000336803	ensembl	human	known	69_37n	missense	63	40.00	42	SNP	0.960	T
COL11A1	1301	genome.wustl.edu	37	1	103480081	103480081	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:103480081G>T	ENST00000370096.3	-	13	1870	c.1558C>A	c.(1558-1560)Ctt>Att	p.L520I	COL11A1_ENST00000512756.1_Missense_Mutation_p.L404I|COL11A1_ENST00000353414.4_Missense_Mutation_p.L481I|COL11A1_ENST00000358392.2_Missense_Mutation_p.L532I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	520	Telopeptide.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTGCTGAAGAATAGCTTGA	0.423																																						dbGAP											0													99.0	84.0	89.0					1																	103480081		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1558C>A	1.37:g.103480081G>T	ENSP00000359114:p.Leu520Ile		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.L532I	ENST00000370096.3	37	c.1594	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661682	0.67700	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.89343	-2.49;-2.5;-2.47;-2.48;-2.37	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	M	0.84433	2.695	0.58432	D	0.999998	P;D;D;D	0.67145	0.956;0.996;0.996;0.993	D;D;D;D	0.75484	0.931;0.986;0.986;0.967	D	0.94173	0.7425	10	0.52906	T	0.07	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	404;481;532;520	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	520;532;481;404;532	ENSP00000359114:L520I;ENSP00000351163:L532I;ENSP00000302551:L481I;ENSP00000426533:L404I;ENSP00000408640:L532I	ENSP00000302551:L481I	L	-	1	0	COL11A1	103252669	1.000000	0.71417	0.899000	0.35326	0.994000	0.84299	3.959000	0.56744	2.620000	0.88729	0.655000	0.94253	CTT	COL11A1	-	NULL	ENSG00000060718		0.423	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	88	0.00	0	G	NM_080630		103480081	103480081	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	missense	30	55.22	37	SNP	1.000	T
CSTF2	1478	genome.wustl.edu	37	X	100087875	100087875	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chrX:100087875G>T	ENST00000372972.2	+	10	1200	c.1184G>T	c.(1183-1185)aGg>aTg	p.R395M	CSTF2_ENST00000415585.2_Missense_Mutation_p.R415M	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	395	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CTAGATCAGAGGGGTCCACCC	0.527																																						dbGAP											0													35.0	28.0	30.0					X																	100087875		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1184G>T	X.37:g.100087875G>T	ENSP00000362063:p.Arg395Met		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R415M	ENST00000372972.2	37	c.1244	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318340	0.81469	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.19105	2.17;2.29	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.56769	1.78	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.85130	0.962;0.997;0.846	T	0.34079	-0.9843	10	0.51188	T	0.08	-10.4671	17.836	0.88697	0.0:0.0:1.0:0.0	.	415;378;395	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	M	415;395;371	ENSP00000387996:R415M;ENSP00000362063:R395M	ENSP00000362063:R395M	R	+	2	0	CSTF2	99974531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.132000	0.71676	2.143000	0.66587	0.506000	0.49869	AGG	CSTF2	-	NULL	ENSG00000101811		0.527	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	37	0.00	0	G	NM_001325		100087875	100087875	+1	no_errors	ENST00000415585	ensembl	human	known	69_37n	missense	17	59.52	25	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43170930	43170930	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr6:43170930G>T	ENST00000252050.4	+	18	3921	c.3837G>T	c.(3835-3837)aaG>aaT	p.K1279N	CUL9_ENST00000354495.3_Missense_Mutation_p.K1169N|CUL9_ENST00000372647.2_Missense_Mutation_p.K1279N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1279	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCCGCATAAAGCGCTGCCAGC	0.597																																						dbGAP											0													75.0	71.0	72.0					6																	43170930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3837G>T	6.37:g.43170930G>T	ENSP00000252050:p.Lys1279Asn		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.K1279N	ENST00000252050.4	37	c.3837	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650550	0.67472	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.44083	0.93;0.93;0.93	5.09	3.29	0.37713	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.108253	0.64402	D	0.000004	T	0.51941	0.1704	M	0.82517	2.595	0.36709	D	0.880562	D;D;D	0.56287	0.973;0.975;0.975	D;D;D	0.65573	0.913;0.936;0.936	T	0.60311	-0.7288	10	0.87932	D	0	-28.2031	9.7712	0.40591	0.1614:0.0:0.8386:0.0	.	1169;1279;1279	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	N	1279;1169;1279	ENSP00000252050:K1279N;ENSP00000346490:K1169N;ENSP00000361730:K1279N	ENSP00000252050:K1279N	K	+	3	2	CUL9	43278908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.533000	0.45667	0.638000	0.30545	0.561000	0.74099	AAG	CUL9	-	pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like	ENSG00000112659		0.597	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	93	0.00	0	G	NM_015089		43170930	43170930	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	55	44.44	44	SNP	1.000	T
DBX1	120237	genome.wustl.edu	37	11	20178187	20178187	+	Intron	SNP	C	C	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr11:20178187C>T	ENST00000524983.2	-	4	961				DBX1_ENST00000227256.3_Missense_Mutation_p.R241H			A6NMT0	DBX1_HUMAN	developing brain homeobox 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGGGACGCACGGGGGCGGGG	0.627																																						dbGAP											0													26.0	36.0	33.0					11																	20178187		2199	4293	6492	-	-	-	SO:0001627	intron_variant	0					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.673-68G>A	11.37:g.20178187C>T				Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R241H	ENST00000524983.2	37	c.722		11	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382095	0.24944	.	.	ENSG00000109851	ENST00000227256	T	0.60040	0.22	2.97	-5.93	0.02254	.	.	.	.	.	T	0.33469	0.0864	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16305	-1.0407	8	0.42905	T	0.14	4.9662	1.4314	0.02334	0.1297:0.1885:0.3376:0.3443	.	241	F8W811	.	H	241	ENSP00000227256:R241H	ENSP00000227256:R241H	R	-	2	0	DBX1	20134763	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.220000	0.02971	-1.361000	0.02169	-0.983000	0.02560	CGT	DBX1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000109851		0.627	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	12	0.00	0	C	NM_001029865		20178187	20178187	-1	no_errors	ENST00000227256	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.000	T
DCTN6	10671	genome.wustl.edu	37	8	30038046	30038046	+	Missense_Mutation	SNP	T	T	C	rs372379363		TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr8:30038046T>C	ENST00000221114.3	+	6	461	c.374T>C	c.(373-375)aTt>aCt	p.I125T	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Missense_Mutation_p.I125T	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	125					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		GGCTGCATCATTGGGGCTTGT	0.433																																						dbGAP											0													150.0	124.0	133.0					8																	30038046		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.374T>C	8.37:g.30038046T>C	ENSP00000221114:p.Ile125Thr		B2RAC1	Missense_Mutation	SNP	superfamily_Trimer_LpxA-like	p.I125T	ENST00000221114.3	37	c.374	CCDS6076.1	8	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317139	0.81469	.	.	ENSG00000104671	ENST00000221114;ENST00000520829	D;D	0.87029	-2.2;-2.2	5.33	5.33	0.75918	Trimeric LpxA-like (1);	0.051095	0.85682	D	0.000000	D	0.92110	0.7499	M	0.79475	2.455	0.80722	D	1	D	0.63046	0.992	P	0.61275	0.886	D	0.93039	0.6455	10	0.87932	D	0	-20.1927	13.248	0.60033	0.0:0.0:0.0:1.0	.	125	O00399	DCTN6_HUMAN	T	125	ENSP00000221114:I125T;ENSP00000431017:I125T	ENSP00000221114:I125T	I	+	2	0	DCTN6	30157588	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.036000	0.76524	2.015000	0.59207	0.383000	0.25322	ATT	DCTN6	-	superfamily_Trimer_LpxA-like	ENSG00000104671		0.433	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN6	HGNC	protein_coding	OTTHUMT00000375815.2	101	0.00	0	T	NM_006571		30038046	30038046	+1	no_errors	ENST00000221114	ensembl	human	known	69_37n	missense	71	41.32	50	SNP	1.000	C
E2F2	1870	genome.wustl.edu	37	1	23857034	23857034	+	Splice_Site	SNP	C	C	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:23857034C>A	ENST00000361729.2	-	1	678	c.252G>T	c.(250-252)ccG>ccT	p.P84P		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	84	Cyclin A/CDK2 binding. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCAGCATTACCGGCAGCCGGC	0.677																																						dbGAP											0													12.0	15.0	14.0					1																	23857034		1666	3619	5285	-	-	-	SO:0001630	splice_region_variant	0			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.252+1G>T	1.37:g.23857034C>A			B2R9W1|Q7Z6H1	Silent	SNP	pfam_E2F_TDP	p.P84	ENST00000361729.2	37	c.252	CCDS236.1	1																																																																																			E2F2	-	NULL	ENSG00000007968		0.677	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	27	0.00	0	C	NM_004091	Silent	23857034	23857034	-1	no_errors	ENST00000361729	ensembl	human	known	69_37n	silent	18	45.45	15	SNP	1.000	A
EGR2	1959	genome.wustl.edu	37	10	64573499	64573499	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr10:64573499G>T	ENST00000242480.3	-	2	1224	c.899C>A	c.(898-900)gCa>gAa	p.A300E	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.A300E|EGR2_ENST00000411732.1_Missense_Mutation_p.A250E	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	300	Poly-Ala.				brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGCTGCTGCTGCTGAGCTGCT	0.677																																						dbGAP											0													9.0	13.0	12.0					10																	64573499		2018	4093	6111	-	-	-	SO:0001583	missense	0			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.899C>A	10.37:g.64573499G>T	ENSP00000242480:p.Ala300Glu		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A300E	ENST00000242480.3	37	c.899	CCDS7267.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.619401|2.619401	0.46736|0.46736	.|.	.|.	ENSG00000122877|ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732|ENST00000432380	T;T;T|.	0.13657|.	2.57;2.57;2.62|.	3.96|3.96	3.05|3.05	0.35203|0.35203	.|.	0.328523|.	0.22326|.	N|.	0.061525|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.08118|0.08118	0|0	0.28537|0.28537	N|N	0.912292|0.912292	P;B|.	0.40476|.	0.718;0.212|.	B;B|.	0.38156|.	0.266;0.137|.	T|T	0.19257|0.19257	-1.0311|-1.0311	10|6	0.72032|0.20046	D|T	0.01|0.44	-5.5785|-5.5785	9.3447|9.3447	0.38100|0.38100	0.1041:0.0:0.8959:0.0|0.1041:0.0:0.8959:0.0	.|.	250;300|.	P11161-2;P11161|.	.;EGR2_HUMAN|.	E|K	300;300;250|241	ENSP00000242480:A300E;ENSP00000402040:A300E;ENSP00000387634:A250E|.	ENSP00000242480:A300E|ENSP00000410985:Q241K	A|Q	-|-	2|1	0|0	EGR2|EGR2	64243505|64243505	0.341000|0.341000	0.24801|0.24801	0.862000|0.862000	0.33874|0.33874	0.958000|0.958000	0.62258|0.62258	1.551000|1.551000	0.36233|0.36233	1.240000|1.240000	0.43803|0.43803	0.655000|0.655000	0.94253|0.94253	GCA|CAG	EGR2	-	NULL	ENSG00000122877		0.677	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	HGNC	protein_coding	OTTHUMT00000048245.2	22	0.00	0	G	NM_000399		64573499	64573499	-1	no_errors	ENST00000242480	ensembl	human	known	69_37n	missense	1	90.91	10	SNP	0.990	T
FBXO45	200933	genome.wustl.edu	37	3	196296086	196296086	+	Silent	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr3:196296086G>A	ENST00000311630.6	+	1	528	c.231G>A	c.(229-231)gaG>gaA	p.E77E	WDR53_ENST00000429115.1_5'Flank|FBXO45_ENST00000440469.1_Intron|WDR53_ENST00000332629.5_5'Flank|WDR53_ENST00000433160.1_5'Flank	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	77	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAACAGCGAGGTGTGGCGGA	0.647																																						dbGAP											0													9.0	13.0	12.0					3																	196296086		2133	4262	6395	-	-	-	SO:0001819	synonymous_variant	0			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.231G>A	3.37:g.196296086G>A			A6NF90|D3DXB5	Silent	SNP	pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like	p.E77	ENST00000311630.6	37	c.231	CCDS46985.1	3																																																																																			FBXO45	-	superfamily_ConA-like_lec_gl,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	ENSG00000174013		0.647	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	16	0.00	0	G			196296086	196296086	+1	no_errors	ENST00000311630	ensembl	human	known	69_37n	silent	20	42.86	15	SNP	1.000	A
FKBP4	2288	genome.wustl.edu	37	12	2909686	2909686	+	Silent	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr12:2909686G>A	ENST00000001008.4	+	8	1162	c.975G>A	c.(973-975)ctG>ctA	p.L325L	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	325	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			ACCTCAACCTGGCCATGTGTC	0.502																																						dbGAP											0													51.0	46.0	48.0					12																	2909686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.975G>A	12.37:g.2909686G>A			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L325	ENST00000001008.4	37	c.975	CCDS8512.1	12																																																																																			FKBP4	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004478		0.502	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	29	0.00	0	G			2909686	2909686	+1	no_errors	ENST00000001008	ensembl	human	known	69_37n	silent	25	33.33	13	SNP	1.000	A
MROH5	389690	genome.wustl.edu	37	8	142486200	142486200	+	RNA	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr8:142486200G>T	ENST00000430863.1	-	0	1573					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GAAGCAGGTGGACAGGAGCTG	0.617																																						dbGAP											0													22.0	27.0	25.0					8																	142486200		2043	4201	6244	-	-	-			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142486200G>T				Missense_Mutation	SNP	NULL	p.S498Y	ENST00000430863.1	37	c.1493		8																																																																																			AC100803.1	-	NULL	ENSG00000226807		0.617	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	Clone_based_vega_gene	polymorphic_pseudogene	OTTHUMT00000342412.4	40	0.00	0	G	NM_207414		142486200	142486200	-1	pseudogene	ENST00000430863	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	0.001	T
FOLH1	2346	genome.wustl.edu	37	11	49194915	49194915	+	Missense_Mutation	SNP	T	T	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr11:49194915T>C	ENST00000256999.2	-	10	1479	c.1219A>G	c.(1219-1221)Aag>Gag	p.K407E	FOLH1_ENST00000343844.4_Missense_Mutation_p.K99E|FOLH1_ENST00000340334.7_Missense_Mutation_p.K392E|FOLH1_ENST00000356696.3_Missense_Mutation_p.K407E|FOLH1_ENST00000533034.1_Missense_Mutation_p.K392E|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	407	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TTACCTTCCTTTTTCAGTGTT	0.418																																						dbGAP											0													160.0	149.0	153.0					11																	49194915		2201	4298	6499	-	-	-	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1219A>G	11.37:g.49194915T>C	ENSP00000256999:p.Lys407Glu		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.K407E	ENST00000256999.2	37	c.1219	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073505	0.20147	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.45	4.45	0.53987	Peptidase M28 (1);	0.191282	0.36034	N	0.002827	T	0.44498	0.1296	L	0.48260	1.515	0.24098	N	0.995882	B;B;B;B	0.29805	0.257;0.138;0.123;0.013	B;B;B;B	0.35727	0.209;0.129;0.109;0.027	T	0.47522	-0.9111	10	0.59425	D	0.04	.	11.7074	0.51605	0.0:0.0:0.0:1.0	.	392;392;407;407	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	E	407;407;392;99;392;407	ENSP00000256999:K407E;ENSP00000349129:K407E;ENSP00000344131:K392E;ENSP00000344086:K99E;ENSP00000431463:K392E	ENSP00000256999:K407E	K	-	1	0	FOLH1	49151491	0.175000	0.23083	0.251000	0.24312	0.267000	0.26476	3.009000	0.49552	1.861000	0.53984	0.496000	0.49642	AAG	FOLH1	-	pfam_Peptidase_M28	ENSG00000086205		0.418	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	175	0.00	0	T	NM_004476		49194915	49194915	-1	no_errors	ENST00000256999	ensembl	human	known	69_37n	missense	109	38.89	70	SNP	0.180	C
GREB1L	80000	genome.wustl.edu	37	18	19088164	19088164	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr18:19088164C>G	ENST00000580732.2	+	26	4835	c.4454C>G	c.(4453-4455)tCc>tGc	p.S1485C	GREB1L_ENST00000424526.1_Missense_Mutation_p.S1485C|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000269218.6_Missense_Mutation_p.S1376C			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1485						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						ATTCCCAAATCCAAAGAGAGT	0.493																																						dbGAP											0													95.0	78.0	83.0					18																	19088164		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.4454C>G	18.37:g.19088164C>G	ENSP00000464162:p.Ser1485Cys		A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.S1485C	ENST00000580732.2	37	c.4454	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558931	0.86231	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.56444	0.46;0.46	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.74382	0.3709	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.947;0.935;0.997	T	0.76801	-0.2825	10	0.87932	D	0	-6.2209	19.5039	0.95106	0.0:1.0:0.0:0.0	.	1376;1485;859	Q9C091-3;Q9C091;B4DDS9	.;GRB1L_HUMAN;.	C	1485;1376	ENSP00000412060:S1485C;ENSP00000269218:S1376C	ENSP00000269218:S1376C	S	+	2	0	GREB1L	17342162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.592000	0.87571	0.563000	0.77884	TCC	GREB1L	-	NULL	ENSG00000141449		0.493	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	45	0.00	0	C	NM_024935		19088164	19088164	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	missense	78	18.75	18	SNP	1.000	G
GUCY2D	3000	genome.wustl.edu	37	17	7911260	7911260	+	Silent	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr17:7911260G>T	ENST00000254854.4	+	7	1728	c.1578G>T	c.(1576-1578)ggG>ggT	p.G526G		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TGGCCCAGGGGAGTCGATCAA	0.537																																						dbGAP											0													41.0	40.0	40.0					17																	7911260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1578G>T	17.37:g.7911260G>T			Q6LEA7	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G526	ENST00000254854.4	37	c.1578	CCDS11127.1	17																																																																																			GUCY2D	-	smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000132518		0.537	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	24	0.00	0	G			7911260	7911260	+1	no_errors	ENST00000254854	ensembl	human	known	69_37n	silent	26	31.58	12	SNP	0.981	T
HMGB4	127540	genome.wustl.edu	37	1	34330058	34330058	+	Missense_Mutation	SNP	A	A	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:34330058A>T	ENST00000522796.1	+	4	2171	c.266A>T	c.(265-267)gAt>gTt	p.D89V	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.D89V			Q8WW32	HMGB4_HUMAN	high mobility group box 4	89						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAAGCGGGATCCCCAGGAA	0.522																																						dbGAP											0													128.0	144.0	139.0					1																	34330058		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.266A>T	1.37:g.34330058A>T	ENSP00000430919:p.Asp89Val		B2R4X7|Q0QWA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D89V	ENST00000522796.1	37	c.266	CCDS30668.1	1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310972	0.81358	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.94687	-3.49;-3.49	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98968	1.0800	10	0.87932	D	0	.	12.0666	0.53592	1.0:0.0:0.0:0.0	.	89	B2R4X7	.	V	89	ENSP00000429214:D89V;ENSP00000430919:D89V	ENSP00000429214:D89V	D	+	2	0	HMGB4	34102645	1.000000	0.71417	0.572000	0.28498	0.936000	0.57629	3.176000	0.50863	2.343000	0.79666	0.496000	0.49642	GAT	HMGB4	-	superfamily_HMG_superfamily	ENSG00000176256		0.522	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMGB4	HGNC	protein_coding	OTTHUMT00000375773.1	71	0.00	0	A	NM_145205		34330058	34330058	+1	no_errors	ENST00000519684	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	1.000	T
IFITM10	402778	genome.wustl.edu	37	11	1756661	1756661	+	Splice_Site	SNP	T	T	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr11:1756661T>G	ENST00000340134.4	-	3	686		c.e3-2		IFITM10_ENST00000482459.1_Splice_Site	NM_001170820.3	NP_001164291.2	A6NMD0	IFM10_HUMAN	interferon induced transmembrane protein 10						response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTCTCGCACCTGAAGCCGGGA	0.612																																						dbGAP											0													77.0	79.0	78.0					11																	1756661		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0				CCDS53593.1, CCDS53593.2	11p15.5	2011-05-06			ENSG00000244242	ENSG00000244242			40022	protein-coding gene	gene with protein product							Standard	NM_001170820		Approved		uc021qbs.2	A6NMD0	OTTHUMG00000043933	ENST00000340134.4:c.538-2A>C	11.37:g.1756661T>G			A6NEU7	Splice_Site	SNP	-	e3-2	ENST00000340134.4	37	c.538-2	CCDS53593.2	11	.	.	.	.	.	.	.	.	.	.	T	17.18	3.325058	0.60634	.	.	ENSG00000244242	ENST00000382123;ENST00000340134	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0337	0.58859	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFITM10	1713237	1.000000	0.71417	0.988000	0.46212	0.885000	0.51271	4.600000	0.61083	1.648000	0.50643	0.379000	0.24179	.	IFITM10	-	-	ENSG00000244242		0.612	IFITM10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IFITM10	HGNC	protein_coding	OTTHUMT00000102341.5	69	0.00	0	T	NM_001170820	Intron	1756661	1756661	-1	no_errors	ENST00000340134	ensembl	human	known	69_37n	splice_site	26	42.22	19	SNP	1.000	G
IGFN1	91156	genome.wustl.edu	37	1	201172878	201172878	+	Missense_Mutation	SNP	A	A	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:201172878A>T	ENST00000335211.4	+	10	890	c.760A>T	c.(760-762)Atc>Ttc	p.I254F	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Missense_Mutation_p.I254F	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	254						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGTGAGATGATCCCCTATGG	0.557																																						dbGAP											0													35.0	30.0	32.0					1																	201172878		692	1591	2283	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.760A>T	1.37:g.201172878A>T	ENSP00000334714:p.Ile254Phe		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I254F	ENST00000335211.4	37	c.760	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.749448	0.49257	.	.	ENSG00000163395	ENST00000335211;ENST00000451870	T;T	0.70749	-0.23;-0.51	4.92	-6.86	0.01676	.	.	.	.	.	T	0.78246	0.4253	M	0.79011	2.435	0.80722	D	1	.	.	.	.	.	.	T	0.82360	-0.0496	7	0.87932	D	0	.	15.5931	0.76554	0.3382:0.0:0.6618:0.0	.	.	.	.	F	254	ENSP00000334714:I254F;ENSP00000398386:I254F	ENSP00000334714:I254F	I	+	1	0	IGFN1	199439501	0.017000	0.18338	0.630000	0.29268	0.904000	0.53231	-0.620000	0.05565	-1.903000	0.01093	-0.904000	0.02843	ATC	IGFN1	-	smart_Ig_sub	ENSG00000163395		0.557	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		40	0.00	0	A	NM_178275		201172878	201172878	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	5	88.37	38	SNP	0.823	T
IGSF10	285313	genome.wustl.edu	37	3	151160785	151160785	+	Missense_Mutation	SNP	C	C	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr3:151160785C>T	ENST00000282466.3	-	5	5949	c.5950G>A	c.(5950-5952)Gac>Aac	p.D1984N	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1984	Ig-like C2-type 6.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCTGCTGGTCGACCACAGCC	0.443																																						dbGAP											0													92.0	89.0	90.0					3																	151160785		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5950G>A	3.37:g.151160785C>T	ENSP00000282466:p.Asp1984Asn		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D1984N	ENST00000282466.3	37	c.5950	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374045	0.42105	.	.	ENSG00000152580	ENST00000489791;ENST00000282466;ENST00000544042	T;T	0.78003	-0.21;-1.14	5.38	3.59	0.41128	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000111	T	0.73321	0.3572	L	0.52573	1.65	0.54753	D	0.999988	B	0.33755	0.424	B	0.38106	0.265	T	0.68484	-0.5396	10	0.36615	T	0.2	.	11.8547	0.52431	0.0:0.8574:0.0:0.1426	.	1984	Q6WRI0	IGS10_HUMAN	N	52;1984;611	ENSP00000417627:D52N;ENSP00000282466:D1984N	ENSP00000282466:D1984N	D	-	1	0	IGSF10	152643475	1.000000	0.71417	0.562000	0.28370	0.691000	0.40173	4.926000	0.63433	0.663000	0.31027	-0.216000	0.12614	GAC	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000152580		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	71	0.00	0	C	NM_178822		151160785	151160785	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	63	38.24	39	SNP	0.995	T
IHH	3549	genome.wustl.edu	37	2	219925127	219925127	+	Silent	SNP	C	C	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:219925127C>A	ENST00000295731.6	-	1	62	c.63G>T	c.(61-63)gtG>gtT	p.V21V	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	21					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCGGCACCACCAGCAGCA	0.746																																						dbGAP											0													8.0	11.0	10.0					2																	219925127		2002	3966	5968	-	-	-	SO:0001819	synonymous_variant	0			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.63G>T	2.37:g.219925127C>A			B9EGM5|O43322|Q8N4B9	Silent	SNP	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pfscan_Intein_splice_site,prints_Hedgehog	p.V21	ENST00000295731.6	37	c.63	CCDS33380.1	2																																																																																			IHH	-	pirsf_Hedgehog	ENSG00000163501		0.746	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	18	0.00	0	C	NM_002181		219925127	219925127	-1	no_errors	ENST00000295731	ensembl	human	known	69_37n	silent	6	68.42	13	SNP	0.998	A
KAZN	23254	genome.wustl.edu	37	1	14925608	14925608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:14925608G>T	ENST00000376030.2	+	1	409	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	KAZN_ENST00000422387.2_Nonsense_Mutation_p.E39*|KAZN_ENST00000503743.1_Nonsense_Mutation_p.E39*	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	39					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GAGACTGGCGGAACTGAgcgg	0.746																																						dbGAP											0													15.0	18.0	17.0					1																	14925608		1842	4054	5896	-	-	-	SO:0001587	stop_gained	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.115G>T	1.37:g.14925608G>T	ENSP00000365198:p.Glu39*		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E39*	ENST00000376030.2	37	c.115	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	41	9.113592	0.99069	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387	.	.	.	3.81	3.81	0.43845	.	0.108852	0.33253	U	0.005108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-5.8755	13.1297	0.59373	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000365198:E39X	E	+	1	0	KAZN	14798195	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.044000	0.71012	1.653000	0.50694	0.313000	0.20887	GAA	KAZN	-	NULL	ENSG00000189337		0.746	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	12	0.00	0	G	NM_001017999		14925608	14925608	+1	no_errors	ENST00000376030	ensembl	human	known	69_37n	nonsense	6	53.85	7	SNP	1.000	T
KIF21A	55605	genome.wustl.edu	37	12	39711981	39711981	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr12:39711981C>G	ENST00000361418.5	-	29	3817	c.3802G>C	c.(3802-3804)Gct>Cct	p.A1268P	KIF21A_ENST00000544797.2_Missense_Mutation_p.A1248P|KIF21A_ENST00000361961.3_Missense_Mutation_p.A1255P|KIF21A_ENST00000541463.2_Missense_Mutation_p.A1232P|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000395670.3_Missense_Mutation_p.A1268P			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1268					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAAAGACTAGCCTCTGAAGTT	0.393																																						dbGAP											0													78.0	85.0	83.0					12																	39711981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3802G>C	12.37:g.39711981C>G	ENSP00000354878:p.Ala1268Pro		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1268P	ENST00000361418.5	37	c.3802	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741002	0.49151	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.70986	-0.53;-0.48;-0.52;-0.42;-0.51	5.83	3.97	0.46021	.	0.118857	0.37483	N	0.002077	T	0.64972	0.2647	L	0.51422	1.61	0.36024	D	0.838964	P;B;B;B	0.39883	0.693;0.384;0.0;0.384	B;B;B;B	0.40636	0.214;0.335;0.004;0.246	T	0.69881	-0.5025	10	0.29301	T	0.29	.	12.1534	0.54062	0.0:0.8574:0.0:0.1426	.	1248;1232;1268;1255	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	P	1255;1268;1248;1268;1232	ENSP00000354851:A1255P;ENSP00000379029:A1268P;ENSP00000445606:A1248P;ENSP00000354878:A1268P;ENSP00000438075:A1232P	ENSP00000354878:A1268P	A	-	1	0	KIF21A	37998248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.633000	0.37113	1.444000	0.47605	0.585000	0.79938	GCT	KIF21A	-	NULL	ENSG00000139116		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	99	1.00	1	C	NM_017641		39711981	39711981	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	missense	18	67.86	38	SNP	1.000	G
KLHL7	55975	genome.wustl.edu	37	7	23164391	23164391	+	Missense_Mutation	SNP	A	A	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr7:23164391A>G	ENST00000339077.5	+	3	551	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000322231.7_Missense_Mutation_p.Y81C|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.Y27C|KLHL7_ENST00000545771.1_Missense_Mutation_p.Y81C|KLHL7_ENST00000322275.5_Missense_Mutation_p.Y103C|KLHL7_ENST00000410047.1_Missense_Mutation_p.Y81C|KLHL7_ENST00000409689.1_Missense_Mutation_p.Y55C|KLHL7_ENST00000545443.1_Missense_Mutation_p.Y81C	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAATTTGCTTATACTGCTAGG	0.338																																						dbGAP											0													102.0	99.0	100.0					7																	23164391		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.308A>G	7.37:g.23164391A>G	ENSP00000343273:p.Tyr103Cys		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y103C	ENST00000339077.5	37	c.308	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294822	0.81025	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.77	5.77	0.91146	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	H	0.99058	4.415	0.80722	D	1	D;D;D;P;D	0.89917	0.998;0.999;1.0;0.948;0.997	D;D;D;P;P	0.68353	0.911;0.954;0.957;0.715;0.874	D	0.98565	1.0643	10	0.87932	D	0	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	81;103;81;103;81	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	C	81;103;103;27;55;81;81;81	ENSP00000322958:Y81C;ENSP00000343273:Y103C;ENSP00000323270:Y103C;ENSP00000441136:Y27C;ENSP00000386263:Y55C;ENSP00000386999:Y81C;ENSP00000446445:Y81C;ENSP00000442366:Y81C	ENSP00000322958:Y81C	Y	+	2	0	KLHL7	23130916	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.414000	0.90238	2.326000	0.78906	0.533000	0.62120	TAT	KLHL7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000122550		0.338	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	73	0.00	0	A	NM_018846		23164391	23164391	+1	no_errors	ENST00000339077	ensembl	human	known	69_37n	missense	46	48.31	43	SNP	1.000	G
LINC00283	100874057	genome.wustl.edu	37	13	103397321	103397321	+	RNA	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr13:103397321C>G	ENST00000430111.1	+	0	1694									long intergenic non-protein coding RNA 283																		TAAAACTTCACCATTTACTGA	0.393																																						dbGAP											0													192.0	143.0	158.0					13																	103397321		692	1590	2282	-	-	-			0					13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103397321C>G				RNA	SNP	-	NULL	ENST00000430111.1	37	NULL		13																																																																																			LINC00283	-	-	ENSG00000231633		0.393	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	LINC00283	HGNC	antisense	OTTHUMT00000045714.1	138	0.00	0	C			103397321	103397321	+1	no_errors	ENST00000430111	ensembl	human	known	69_37n	rna	158	25.12	53	SNP	0.000	G
MACF1	23499	genome.wustl.edu	37	1	39854171	39854171	+	Silent	SNP	T	T	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:39854171T>C	ENST00000372915.3	+	57	15759	c.15672T>C	c.(15670-15672)cgT>cgC	p.R5224R	MACF1_ENST00000361689.2_Silent_p.R3157R|MACF1_ENST00000545844.1_Silent_p.R3157R|MACF1_ENST00000567887.1_Silent_p.R5256R|MACF1_ENST00000289893.4_Silent_p.R3659R|MACF1_ENST00000564288.1_Silent_p.R5219R|MACF1_ENST00000539005.1_Silent_p.R3136R|MACF1_ENST00000317713.7_Silent_p.R3157R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5224					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAAGCTCGTCAGGAACAGC	0.522																																						dbGAP											0													59.0	61.0	60.0					1																	39854171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15672T>C	1.37:g.39854171T>C			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2	p.S2270P	ENST00000372915.3	37	c.6808		1	.	.	.	.	.	.	.	.	.	.	T	5.575	0.290992	0.10567	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.78	-11.1	0.00147	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.52501	D	0.999959	.	.	.	.	.	.	T	0.54456	-0.8291	4	.	.	.	.	7.8469	0.29431	0.0689:0.5063:0.2889:0.1359	.	.	.	.	P	2270	.	.	S	+	1	0	MACF1	39626758	0.002000	0.14202	0.696000	0.30242	0.993000	0.82548	-1.632000	0.02024	-1.920000	0.01069	0.460000	0.39030	TCA	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.522	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	43	0.00	0	T	NM_033044		39854171	39854171	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372925	ensembl	human	novel	69_37n	missense	25	45.65	21	SNP	0.043	C
MARS	4141	genome.wustl.edu	37	12	57910296	57910296	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr12:57910296C>G	ENST00000262027.5	+	21	2769	c.2635C>G	c.(2635-2637)Cta>Gta	p.L879V	RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	879	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACTCTTGGATCTAAAGAAACA	0.468																																						dbGAP											0													66.0	64.0	65.0					12																	57910296		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2635C>G	12.37:g.57910296C>G	ENSP00000262027:p.Leu879Val		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.L879V	ENST00000262027.5	37	c.2635	CCDS8942.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.862821|3.862821	0.71949|0.71949	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000262027;ENST00000552914|ENST00000548944	T;T|.	0.54675|.	0.56;0.56|.	5.47|5.47	4.58|4.58	0.56647|0.56647	WHEP-TRS (3);S15/NS1, RNA-binding (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.92219|0.92219	3.285|3.285	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.87886|0.87886	0.2681|0.2681	10|6	0.48119|0.87932	T|D	0.1|0	-8.7135|-8.7135	13.6221|13.6221	0.62143|0.62143	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	879|.	P56192|.	SYMC_HUMAN|.	V|C	879;198|51	ENSP00000262027:L879V;ENSP00000449787:L198V|.	ENSP00000262027:L879V|ENSP00000449071:S51C	L|S	+|+	1|2	2|0	MARS|MARS	56196563|56196563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.378000|5.378000	0.66190|0.66190	1.457000|1.457000	0.47850|0.47850	0.561000|0.561000	0.74099|0.74099	CTA|TCT	MARS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000166986		0.468	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	43	0.00	0	C	NM_004990		57910296	57910296	+1	no_errors	ENST00000262027	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	G
MRPS2	51116	genome.wustl.edu	37	9	138395775	138395775	+	Silent	SNP	C	C	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr9:138395775C>T	ENST00000371785.1	+	5	896	c.687C>T	c.(685-687)ccC>ccT	p.P229P	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.P229P|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	229					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACTGCAACCCCTGCCTCATCA	0.597																																						dbGAP											0													134.0	131.0	132.0					9																	138395775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.687C>T	9.37:g.138395775C>T			Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.P229	ENST00000371785.1	37	c.687	CCDS6990.1	9																																																																																			MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom	ENSG00000122140		0.597	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	46	0.00	0	C			138395775	138395775	+1	no_errors	ENST00000241600	ensembl	human	known	69_37n	silent	2	91.67	22	SNP	0.517	T
MUC6	4588	genome.wustl.edu	37	11	1023613	1023613	+	Missense_Mutation	SNP	C	C	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr11:1023613C>A	ENST00000421673.2	-	26	3472	c.3422G>T	c.(3421-3423)gGc>gTc	p.G1141V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1141					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCGCCATGGCCGTCCTGCGT	0.657																																						dbGAP											0													89.0	104.0	99.0					11																	1023613		2176	4268	6444	-	-	-	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3422G>T	11.37:g.1023613C>A	ENSP00000406861:p.Gly1141Val		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.G1141V	ENST00000421673.2	37	c.3422	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	6.448	0.450753	0.12223	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	4.1	0.842	0.18927	.	1.151550	0.07214	U	0.859705	T	0.18718	0.0449	L	0.50333	1.59	0.09310	N	0.999999	B	0.27498	0.18	B	0.20955	0.032	T	0.30851	-0.9964	10	0.72032	D	0.01	.	5.218	0.15354	0.0:0.6522:0.1624:0.1854	.	1141	Q6W4X9	MUC6_HUMAN	V	1141	ENSP00000406861:G1141V	ENSP00000406861:G1141V	G	-	2	0	MUC6	1013613	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.002000	0.13061	-0.036000	0.13669	0.542000	0.68232	GGC	MUC6	-	NULL	ENSG00000184956		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	116	0.00	0	C	XM_290540		1023613	1023613	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	missense	66	42.11	48	SNP	0.000	A
MX1	4599	genome.wustl.edu	37	21	42824760	42824760	+	Missense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr21:42824760G>A	ENST00000398600.2	+	18	2747	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	MX1_ENST00000455164.2_Missense_Mutation_p.M574I|MX1_ENST00000398598.3_Missense_Mutation_p.M574I|MX1_ENST00000288383.6_Missense_Mutation_p.M551I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	574	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				ACTCTTCCATGGAGGAGATCT	0.498																																						dbGAP											0													185.0	189.0	188.0					21																	42824760		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1722G>A	21.37:g.42824760G>A	ENSP00000381601:p.Met574Ile		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.M574I	ENST00000398600.2	37	c.1722	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	G	12.48	1.952080	0.34471	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.74	0.247	0.15521	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	1.121890	0.06401	N	0.718758	T	0.27832	0.0685	N	0.17312	0.475	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18304	-1.0341	10	0.21540	T	0.41	-13.2617	4.319	0.11007	0.3266:0.1633:0.5102:0.0	.	574	P20591	MX1_HUMAN	I	574;574;574;551	ENSP00000381601:M574I;ENSP00000381599:M574I;ENSP00000410523:M574I;ENSP00000288383:M551I	ENSP00000288383:M551I	M	+	3	0	MX1	41746630	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	0.040000	0.13905	-0.076000	0.12775	0.655000	0.94253	ATG	MX1	-	pfam_GED,smart_GED	ENSG00000157601		0.498	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	73	0.00	0	G			42824760	42824760	+1	no_errors	ENST00000398598	ensembl	human	known	69_37n	missense	10	64.29	18	SNP	0.000	A
MYO15A	51168	genome.wustl.edu	37	17	18060272	18060272	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr17:18060272C>G	ENST00000205890.5	+	49	8944	c.8606C>G	c.(8605-8607)tCt>tGt	p.S2869C	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.S133C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2869	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCAGGACTCTGACTACGTG	0.612																																						dbGAP											0													58.0	62.0	61.0					17																	18060272		2150	4259	6409	-	-	-	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8606C>G	17.37:g.18060272C>G	ENSP00000205890:p.Ser2869Cys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.S2869C	ENST00000205890.5	37	c.8606	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860720	0.51482	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	T	0.13778	2.56	5.04	5.04	0.67666	Src homology-3 domain (1);	.	.	.	.	T	0.41789	0.1174	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.85130	0.931;0.945;0.997	T	0.43410	-0.9393	9	0.87932	D	0	.	17.4107	0.87485	0.0:1.0:0.0:0.0	.	68;133;2869	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	C	2869;68	ENSP00000205890:S2869C	ENSP00000205890:S2869C	S	+	2	0	MYO15A	18000997	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	7.433000	0.80362	2.345000	0.79718	0.555000	0.69702	TCT	MYO15A	-	superfamily_SH3_domain	ENSG00000091536		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	50	0.00	0	C	NM_016239		18060272	18060272	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	missense	30	44.44	24	SNP	1.000	G
MYO16	23026	genome.wustl.edu	37	13	109777494	109777494	+	Silent	SNP	T	T	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr13:109777494T>C	ENST00000357550.2	+	29	3545	c.3504T>C	c.(3502-3504)ctT>ctC	p.L1168L	MYO16_ENST00000356711.2_Silent_p.L1168L|MYO16_ENST00000457511.2_Silent_p.L680L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCACCTGCTTCAGAGAATAA	0.423																																						dbGAP											0													66.0	64.0	64.0					13																	109777494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3504T>C	13.37:g.109777494T>C				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1168	ENST00000357550.2	37	c.3504	CCDS32008.1	13																																																																																			MYO16	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000041515		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	65	0.00	0	T	NM_015011		109777494	109777494	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	silent	50	43.33	39	SNP	0.996	C
NAF1	92345	genome.wustl.edu	37	4	164061489	164061489	+	Missense_Mutation	SNP	C	C	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr4:164061489C>T	ENST00000274054.2	-	5	957	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	NAF1_ENST00000509434.1_5'UTR|NAF1_ENST00000422287.2_Missense_Mutation_p.R255Q	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	255					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAATTAAACCGTAACACATA	0.294																																						dbGAP											0													85.0	93.0	90.0					4																	164061489		2203	4291	6494	-	-	-	SO:0001583	missense	0				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.764G>A	4.37:g.164061489C>T	ENSP00000274054:p.Arg255Gln		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.R255Q	ENST00000274054.2	37	c.764	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.199256	0.94997	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.46819	0.97;0.86	5.68	5.68	0.88126	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.132313	0.48286	D	0.000193	T	0.59018	0.2163	M	0.69823	2.125	0.58432	D	0.999998	P;D	0.54207	0.916;0.965	B;P	0.48952	0.441;0.596	T	0.61392	-0.7072	10	0.51188	T	0.08	-15.8797	18.7805	0.91930	0.0:1.0:0.0:0.0	.	255;255	E9PAZ2;Q96HR8	.;NAF1_HUMAN	Q	255	ENSP00000408963:R255Q;ENSP00000274054:R255Q	ENSP00000274054:R255Q	R	-	2	0	NAF1	164280939	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	3.161000	0.50747	2.693000	0.91896	0.655000	0.94253	CGG	NAF1	-	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000145414		0.294	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	58	0.00	0	C	NM_138386		164061489	164061489	-1	no_errors	ENST00000274054	ensembl	human	known	69_37n	missense	4	86.67	26	SNP	1.000	T
NAV3	89795	genome.wustl.edu	37	12	78513280	78513280	+	Missense_Mutation	SNP	A	A	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr12:78513280A>G	ENST00000397909.2	+	15	3477	c.3304A>G	c.(3304-3306)Att>Gtt	p.I1102V	NAV3_ENST00000228327.6_Missense_Mutation_p.I1102V|NAV3_ENST00000266692.7_Missense_Mutation_p.I1102V|NAV3_ENST00000536525.2_Missense_Mutation_p.I1102V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1102	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATCTGCTGCCATTGGCGGGAA	0.468										HNSCC(70;0.22)																												dbGAP											0													67.0	69.0	68.0					12																	78513280		1945	4149	6094	-	-	-	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3304A>G	12.37:g.78513280A>G	ENSP00000381007:p.Ile1102Val		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.I1102V	ENST00000397909.2	37	c.3304		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.14|19.14	3.769248|3.769248	0.69992|0.69992	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.37584	.|1.19;1.19;1.19;1.19	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.40469	.|U	.|0.001084	T|T	0.51534|0.51534	0.1680|0.1680	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|B;P;P;P	.|0.47545	.|0.129;0.897;0.543;0.639	.|B;P;B;B	.|0.52424	.|0.075;0.698;0.085;0.172	T|T	0.55256|0.55256	-0.8169|-0.8169	5|10	.|0.72032	.|D	.|0.01	-18.0461|-18.0461	15.8562|15.8562	0.78979|0.78979	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1102;1102;1102;1102	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	R|V	173|1102	.|ENSP00000446132:I1102V;ENSP00000381007:I1102V;ENSP00000228327:I1102V;ENSP00000266692:I1102V	.|ENSP00000228327:I1102V	H|I	+|+	2|1	0|0	NAV3|NAV3	77037411|77037411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.770000|3.770000	0.55310|0.55310	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	CAT|ATT	NAV3	-	NULL	ENSG00000067798		0.468	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	43	0.00	0	A	NM_001024383		78513280	78513280	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	1.000	G
NRAP	4892	genome.wustl.edu	37	10	115355443	115355443	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr10:115355443G>T	ENST00000359988.3	-	38	4719	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	NRAP_ENST00000369360.3_Missense_Mutation_p.T1465N|NRAP_ENST00000369358.4_Missense_Mutation_p.T1500N|NRAP_ENST00000360478.3_Missense_Mutation_p.T1457N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGGGATCAGGGTGTATCTGTG	0.517																																						dbGAP											0													207.0	171.0	183.0					10																	115355443		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4475C>A	10.37:g.115355443G>T	ENSP00000353078:p.Thr1492Asn			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.T1500N	ENST00000359988.3	37	c.4499	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042360	0.55003	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.19938	2.37;2.36;2.21;2.11	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	L	0.56769	1.78	0.38903	D	0.957379	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.96;0.999;1.0;0.999	T	0.07158	-1.0787	10	0.29301	T	0.29	.	18.1269	0.89589	0.0:0.0:1.0:0.0	.	650;1492;1457;1492	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	N	1500;1465;1492;1457;650	ENSP00000358365:T1500N;ENSP00000358367:T1465N;ENSP00000353078:T1492N;ENSP00000353666:T1457N	ENSP00000353078:T1492N	T	-	2	0	NRAP	115345433	1.000000	0.71417	0.970000	0.41538	0.609000	0.37215	5.447000	0.66606	2.826000	0.97356	0.655000	0.94253	ACC	NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000197893		0.517	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	82	0.00	0	G	NM_006175		115355443	115355443	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	missense	45	40.00	30	SNP	0.967	T
NWD1	284434	genome.wustl.edu	37	19	16918863	16918863	+	Missense_Mutation	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr19:16918863G>C	ENST00000552788.1	+	16	4203	c.4203G>C	c.(4201-4203)caG>caC	p.Q1401H	NWD1_ENST00000523826.1_Missense_Mutation_p.Q1195H|NWD1_ENST00000339803.6_Missense_Mutation_p.Q1266H|NWD1_ENST00000524140.2_Missense_Mutation_p.Q1401H|NWD1_ENST00000379808.3_Missense_Mutation_p.Q1401H|NWD1_ENST00000549814.1_Missense_Mutation_p.Q1359H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1401							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAAGGAGCAGCTGGTGGTCA	0.592																																						dbGAP											0													97.0	94.0	95.0					19																	16918863		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4203G>C	19.37:g.16918863G>C	ENSP00000447224:p.Gln1401His		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1401H	ENST00000552788.1	37	c.4203		19	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955283	0.34471	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	4.95	2.41	0.29592	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.265904	0.28730	N	0.014339	T	0.59742	0.2216	L	0.42581	1.335	0.26204	N	0.979408	D;D;D	0.67145	0.996;0.995;0.996	D;P;D	0.64042	0.921;0.871;0.921	T	0.47787	-0.9090	10	0.54805	T	0.06	-21.2396	4.8859	0.13703	0.2089:0.0:0.6175:0.1735	.	1401;1401;1266	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	1266;1401;1359;1401;1195;1401;1266	ENSP00000428579:Q1401H;ENSP00000447548:Q1359H;ENSP00000369136:Q1401H;ENSP00000428955:Q1195H;ENSP00000447224:Q1401H;ENSP00000340159:Q1266H	ENSP00000340159:Q1266H	Q	+	3	2	NWD1	16779863	0.995000	0.38212	0.998000	0.56505	0.332000	0.28634	0.468000	0.22051	1.074000	0.40909	0.655000	0.94253	CAG	NWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	63	0.00	0	G	NM_001007525		16918863	16918863	+1	no_errors	ENST00000379808	ensembl	human	known	69_37n	missense	30	56.52	39	SNP	0.982	C
OR5I1	10798	genome.wustl.edu	37	11	55703337	55703338	+	Frame_Shift_Ins	INS	-	-	A	rs368986269		TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr11:55703337_55703338insA	ENST00000301532.3	-	1	538_539	c.539_540insT	c.(538-540)ttcfs	p.F180fs		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	180					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAGGTCACAGAAAAAATGATT	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.540dupT	11.37:g.55703343_55703343dupA	ENSP00000301532:p.Phe180fs		Q6IEU4	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C181fs	ENST00000301532.3	37	c.540_539	CCDS7949.1	11																																																																																			OR5I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000167825		0.401	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	44	0.00	0	-	NM_006637		55703337	55703338	-1	no_errors	ENST00000301532	ensembl	human	known	69_37n	frame_shift_ins	28	37.78	17	INS	1.000:1.000	A
PDE3A	5139	genome.wustl.edu	37	12	20522466	20522466	+	Missense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr12:20522466G>A	ENST00000359062.3	+	1	288	c.248G>A	c.(247-249)gGg>gAg	p.G83E	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	83					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGGTCCGCGGGGAGGTCGGC	0.711																																						dbGAP											0													5.0	5.0	5.0					12																	20522466		2095	4142	6237	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.248G>A	12.37:g.20522466G>A	ENSP00000351957:p.Gly83Glu		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.G83E	ENST00000359062.3	37	c.248	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603132	0.46423	.	.	ENSG00000172572	ENST00000359062	T	0.62364	0.03	5.07	1.06	0.20224	.	2.956300	0.01650	N	0.024481	T	0.48241	0.1489	N	0.19112	0.55	0.30993	N	0.721236	B	0.09022	0.002	B	0.06405	0.002	T	0.41124	-0.9526	10	0.46703	T	0.11	.	6.0879	0.19978	0.1699:0.2957:0.5345:0.0	.	83	Q14432	PDE3A_HUMAN	E	83	ENSP00000351957:G83E	ENSP00000351957:G83E	G	+	2	0	PDE3A	20413733	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	2.211000	0.42825	0.142000	0.18901	-0.273000	0.10243	GGG	PDE3A	-	NULL	ENSG00000172572		0.711	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	27	0.00	0	G			20522466	20522466	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	20	34.38	11	SNP	1.000	A
PDPR	55066	genome.wustl.edu	37	16	70177496	70177496	+	Silent	SNP	T	T	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr16:70177496T>C	ENST00000288050.4	+	14	2646	c.1689T>C	c.(1687-1689)acT>acC	p.T563T	PDPR_ENST00000398122.3_Silent_p.T463T|PDPR_ENST00000567046.1_5'Flank|PDPR_ENST00000568530.1_Silent_p.T563T|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_5'Flank	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	563					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTGTGCATACTGGCATGCTCA	0.542																																						dbGAP											0													63.0	63.0	63.0					16																	70177496		1918	4118	6036	-	-	-	SO:0001819	synonymous_variant	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1689T>C	16.37:g.70177496T>C			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.T563	ENST00000288050.4	37	c.1689	CCDS45520.1	16																																																																																			PDPR	-	pfam_GCV_T_N	ENSG00000090857		0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	130	0.00	0	T	NM_017990		70177496	70177496	+1	no_errors	ENST00000288050	ensembl	human	known	69_37n	silent	72	24.21	23	SNP	0.001	C
PROM2	150696	genome.wustl.edu	37	2	95951442	95951442	+	Missense_Mutation	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:95951442G>C	ENST00000317620.9	+	16	2064	c.1931G>C	c.(1930-1932)gGa>gCa	p.G644A	PROM2_ENST00000403131.2_Missense_Mutation_p.G644A|PROM2_ENST00000542147.1_Missense_Mutation_p.G595A|PROM2_ENST00000317668.4_Missense_Mutation_p.G644A	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	644					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGCTGCAAGGACTGGCCCAG	0.662																																						dbGAP											0													22.0	22.0	22.0					2																	95951442		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1931G>C	2.37:g.95951442G>C	ENSP00000318270:p.Gly644Ala		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.G644A	ENST00000317620.9	37	c.1931	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958255	0.00465	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.61	-2.7	0.06004	.	1.137090	0.06546	N	0.744169	T	0.29126	0.0724	L	0.43923	1.385	0.09310	N	1	B	0.23249	0.082	B	0.26864	0.074	T	0.32508	-0.9904	10	0.06365	T	0.9	0.2531	7.4821	0.27411	0.189:0.5634:0.2476:0.0	.	644	Q8N271	PROM2_HUMAN	A	644;644;644;595	ENSP00000385716:G644A;ENSP00000318520:G644A;ENSP00000318270:G644A;ENSP00000442542:G595A	ENSP00000318270:G644A	G	+	2	0	PROM2	95315169	0.000000	0.05858	0.242000	0.24170	0.044000	0.14063	-0.200000	0.09478	-0.156000	0.11079	0.462000	0.41574	GGA	PROM2	-	pfam_Prominin	ENSG00000155066		0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	39	0.00	0	G	NM_144707		95951442	95951442	+1	no_errors	ENST00000317620	ensembl	human	known	69_37n	missense	19	42.42	14	SNP	0.005	C
PLA2R1	22925	genome.wustl.edu	37	2	160832693	160832693	+	Silent	SNP	A	A	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:160832693A>G	ENST00000283243.7	-	17	2687	c.2481T>C	c.(2479-2481)caT>caC	p.H827H	PLA2R1_ENST00000392771.1_Silent_p.H827H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	827	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGGCAAAGGTATGAAAAAGGT	0.383																																						dbGAP											0													111.0	104.0	107.0					2																	160832693		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2481T>C	2.37:g.160832693A>G			B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.H827	ENST00000283243.7	37	c.2481	CCDS33309.1	2																																																																																			PLA2R1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.383	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	97	0.00	0	A			160832693	160832693	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	silent	5	90.57	48	SNP	0.061	G
RBM42	79171	genome.wustl.edu	37	19	36125255	36125255	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr19:36125255G>T	ENST00000262633.4	+	8	1220	c.1115G>T	c.(1114-1116)aGc>aTc	p.S372I	RBM42_ENST00000588161.1_Missense_Mutation_p.S342I|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.S343I|RBM42_ENST00000589559.1_Missense_Mutation_p.S343I|RBM42_ENST00000592202.1_Missense_Mutation_p.S318I|RBM42_ENST00000589871.1_Missense_Mutation_p.S350I	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	372	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGGACCCCAGCCTGCTGGAG	0.622																																						dbGAP											0													37.0	35.0	36.0					19																	36125255		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1115G>T	19.37:g.36125255G>T	ENSP00000262633:p.Ser372Ile		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S372I	ENST00000262633.4	37	c.1115	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925047	0.73213	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.37235	1.21;1.21	6.08	5.04	0.67666	Nucleotide-binding, alpha-beta plait (1);	0.037665	0.85682	D	0.000000	T	0.49643	0.1569	L	0.38838	1.175	0.80722	D	1	P;B;D;B	0.71674	0.86;0.004;0.998;0.002	P;B;D;B	0.70227	0.655;0.011;0.968;0.005	T	0.52852	-0.8520	10	0.87932	D	0	-10.2246	14.5956	0.68403	0.0:0.0:0.8529:0.1471	.	338;343;342;372	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	I	372;343	ENSP00000262633:S372I;ENSP00000353663:S343I	ENSP00000262633:S372I	S	+	2	0	RBM42	40817095	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.033000	0.93741	1.573000	0.49748	0.655000	0.94253	AGC	RBM42	-	NULL	ENSG00000126254		0.622	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	35	0.00	0	G	NM_024321		36125255	36125255	+1	no_errors	ENST00000262633	ensembl	human	known	69_37n	missense	18	43.75	14	SNP	1.000	T
RBM4B	83759	genome.wustl.edu	37	11	66436729	66436729	+	Missense_Mutation	SNP	C	C	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr11:66436729C>T	ENST00000525754.1	-	2	1114	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	RBM4B_ENST00000310046.4_Missense_Mutation_p.R149Q|RBM4B_ENST00000529195.2_5'Flank|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR|RP11-658F2.8_ENST00000548810.1_RNA|RP11-658F2.8_ENST00000550837.1_RNA			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	149					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGTCCGAAGCCGGCTTGTGGA	0.502																																						dbGAP											0													69.0	71.0	70.0					11																	66436729		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.446G>A	11.37:g.66436729C>T	ENSP00000433071:p.Arg149Gln		B3KT83	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.R149Q	ENST00000525754.1	37	c.446	CCDS8149.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440864	0.83993	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.75367	-0.93;-0.93	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	L	0.50993	1.605	0.80722	D	1	B	0.34329	0.449	B	0.26614	0.071	T	0.71013	-0.4715	10	0.66056	D	0.02	-26.4655	19.6313	0.95704	0.0:1.0:0.0:0.0	.	149	Q9BQ04	RBM4B_HUMAN	Q	149	ENSP00000433071:R149Q;ENSP00000310471:R149Q	ENSP00000310471:R149Q	R	-	2	0	RBM4B	66193305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.817000	0.69229	2.937000	0.99478	0.650000	0.86243	CGG	RBM4B	-	NULL	ENSG00000173914		0.502	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	HGNC	protein_coding	OTTHUMT00000393851.1	40	0.00	0	C	NM_031492		66436729	66436729	-1	no_errors	ENST00000310046	ensembl	human	known	69_37n	missense	16	52.94	18	SNP	1.000	T
SLC2A11	66035	genome.wustl.edu	37	22	24204354	24204354	+	Missense_Mutation	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr22:24204354G>C	ENST00000345044.6	+	2	353	c.85G>C	c.(85-87)Ggc>Cgc	p.G29R	SLC2A11_ENST00000403208.3_Missense_Mutation_p.G29R|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Missense_Mutation_p.G29R|SLC2A11_ENST00000398356.2_Missense_Mutation_p.G36R|AP000350.10_ENST00000433835.3_5'Flank|SLC2A11_ENST00000316185.8_Missense_Mutation_p.G32R			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	29					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TTTTCAGTTTGGCTATAACCT	0.537																																						dbGAP											0													236.0	214.0	221.0					22																	24204354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.85G>C	22.37:g.24204354G>C	ENSP00000342542:p.Gly29Arg		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.G36R	ENST00000345044.6	37	c.106	CCDS46673.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.04|19.04	3.748958|3.748958	0.69533|0.69533	.|.	.|.	ENSG00000133460|ENSG00000251357	ENST00000345044;ENST00000403208;ENST00000398356;ENST00000398363;ENST00000398359;ENST00000405847;ENST00000407566;ENST00000316185|ENST00000421180	D;D;D;D;D|.	0.86432|.	-2.12;-2.12;-2.12;-2.12;-2.12|.	3.4|3.4	3.4|3.4	0.38934|0.38934	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85106|0.85106	0.5621|0.5621	H|H	0.94925|0.94925	3.6|3.6	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.88972|0.88972	0.3401|0.3401	10|5	0.87932|.	D|.	0|.	.|.	13.1454|13.1454	0.59459|0.59459	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	32;36;32;29;36;36|.	B4E2T0;E7ENI4;Q9BYW1-3;Q9BYW1;E9PH55;Q6P4C1|.	.;.;.;GTR11_HUMAN;.;.|.	R|F	29;29;36;29;36;29;36;32|4	ENSP00000342542:G29R;ENSP00000385949:G29R;ENSP00000381399:G36R;ENSP00000384987:G29R;ENSP00000326748:G32R|.	ENSP00000255830:G29R|.	G|L	+|+	1|3	0|2	SLC2A11|AP000350.10	22534354|22534354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.974000|5.974000	0.70465|0.70465	2.239000|2.239000	0.73571|0.73571	0.603000|0.603000	0.83216|0.83216	GGC|TTG	SLC2A11	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	ENSG00000133460		0.537	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A11	HGNC	protein_coding	OTTHUMT00000319889.3	119	0.00	0	G	NM_030807		24204354	24204354	+1	no_errors	ENST00000398356	ensembl	human	known	69_37n	missense	16	81.61	71	SNP	1.000	C
SLC5A10	125206	genome.wustl.edu	37	17	18874526	18874526	+	Missense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr17:18874526G>A	ENST00000395645.3	+	8	859	c.841G>A	c.(841-843)Gac>Aac	p.D281N	SLC5A10_ENST00000395642.1_Missense_Mutation_p.D198N|SLC5A10_ENST00000395643.2_Missense_Mutation_p.D254N|SLC5A10_ENST00000317977.6_Missense_Mutation_p.D198N|FAM83G_ENST00000585154.2_3'UTR|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.D281N|SLC5A10_ENST00000417251.2_Missense_Mutation_p.D281N|FAM83G_ENST00000345041.4_3'UTR	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	281					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTGGTGCACCGACCAGGTGAG	0.652																																						dbGAP											0													124.0	89.0	101.0					17																	18874526		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.841G>A	17.37:g.18874526G>A	ENSP00000379007:p.Asp281Asn		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D281N	ENST00000395645.3	37	c.841	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.691922	0.96793	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.93659	-3.26;-2.22;-3.26;-2.24;-2.1;-2.22	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	L	0.48935	1.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.946;0.968;0.946;0.984	D	0.94745	0.7922	10	0.45353	T	0.12	.	20.023	0.97509	0.0:0.0:1.0:0.0	.	281;254;281;281;198	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	N	198;281;198;281;281;254	ENSP00000324346:D198N;ENSP00000379008:D281N;ENSP00000379004:D198N;ENSP00000401875:D281N;ENSP00000379007:D281N;ENSP00000379005:D254N	ENSP00000324346:D198N	D	+	1	0	SLC5A10	18815251	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	9.735000	0.98825	2.837000	0.97791	0.655000	0.94253	GAC	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.652	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	42	0.00	0	G	NM_152351		18874526	18874526	+1	no_errors	ENST00000395647	ensembl	human	known	69_37n	missense	34	42.37	25	SNP	1.000	A
ST3GAL3	6487	genome.wustl.edu	37	1	44202021	44202021	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr1:44202021C>G	ENST00000361392.4	+	2	265	c.88C>G	c.(88-90)Cta>Gta	p.L30V	ST3GAL3_ENST00000372366.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.L30V|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.L30V|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.L30V|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.L30V|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.L30V|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.L30V|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.L30V|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.L30V|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.L30V	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	30					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TGCGTGGAAGCTACACTTACT	0.483																																						dbGAP											0													216.0	193.0	201.0					1																	44202021		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.88C>G	1.37:g.44202021C>G	ENSP00000355341:p.Leu30Val		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L30V	ENST00000361392.4	37	c.88	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939117	0.73557	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	T;T;T;T;T;T;T;D;D;T;D;T;D;D;D;T;T;T;T;T;T;T;T;T;T;T;D	0.84589	-0.02;0.34;-0.84;-0.82;-0.95;-0.02;-0.83;-1.87;-1.84;-0.45;-1.83;-0.02;-1.87;-1.84;-1.77;-0.36;-0.84;-0.5;-0.44;-0.87;-0.82;-0.95;-0.37;-0.39;-0.83;-0.02;-1.76	5.94	5.03	0.67393	.	0.071710	0.56097	D	0.000021	D	0.90150	0.6922	L	0.59436	1.845	0.58432	D	0.99999	D;D;D;D;P;D;D;D;D;D;D;D;P;D;D;D;D;D	0.76494	0.974;0.999;0.976;0.974;0.917;0.976;0.996;0.999;0.99;0.993;0.998;0.998;0.952;0.998;0.998;0.994;0.99;0.997	D;D;P;D;D;P;D;D;D;D;D;D;P;D;D;P;D;D	0.91635	0.969;0.998;0.741;0.969;0.937;0.741;0.99;0.998;0.979;0.99;0.999;0.999;0.476;0.995;0.996;0.89;0.979;0.997	D	0.90832	0.4717	10	0.87932	D	0	.	12.3666	0.55232	0.0:0.8604:0.0:0.1396	.	30;30;30;30;30;30;30;30;30;30;30;30;30;30;30;30;30;30	Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	V	30	ENSP00000355341:L30V;ENSP00000354748:L30V;ENSP00000262915:L30V;ENSP00000361450:L30V;ENSP00000316999:L30V;ENSP00000361449:L30V;ENSP00000330463:L30V;ENSP00000439634:L30V;ENSP00000333494:L30V;ENSP00000335633:L30V;ENSP00000361452:L30V;ENSP00000317192:L30V;ENSP00000355201:L30V;ENSP00000361437:L30V;ENSP00000435603:L30V;ENSP00000361444:L30V;ENSP00000354657:L30V;ENSP00000361442:L30V;ENSP00000361441:L30V;ENSP00000361440:L30V;ENSP00000361443:L30V;ENSP00000361447:L30V;ENSP00000434876:L30V;ENSP00000432682:L30V;ENSP00000432965:L30V;ENSP00000329755:L30V;ENSP00000434378:L30V	ENSP00000262915:L30V	L	+	1	2	ST3GAL3	43974608	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.769000	0.47654	1.517000	0.48917	0.563000	0.77884	CTA	ST3GAL3	-	pirsf_Sialyl_trans	ENSG00000126091		0.483	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1	163	0.00	0	C	NM_174963		44202021	44202021	+1	no_errors	ENST00000262915	ensembl	human	known	69_37n	missense	92	42.86	69	SNP	1.000	G
SUDS3	64426	genome.wustl.edu	37	12	118823947	118823947	+	Missense_Mutation	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr12:118823947G>C	ENST00000543473.1	+	4	609	c.297G>C	c.(295-297)atG>atC	p.M99I	SUDS3_ENST00000397564.2_Missense_Mutation_p.M99I	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	99	Mediates interaction with USP17L2.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAAGAGAATGAAAAAACTAG	0.323																																						dbGAP											0													64.0	58.0	60.0					12																	118823947		1862	4103	5965	-	-	-	SO:0001583	missense	0			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.297G>C	12.37:g.118823947G>C	ENSP00000443988:p.Met99Ile		Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	pfam_Sds3	p.M99I	ENST00000543473.1	37	c.297	CCDS44993.1	12	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521184	0.64747	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.14	5.14	0.70334	.	0.077226	0.85682	D	0.000000	T	0.40767	0.1130	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21008	-1.0258	9	0.40728	T	0.16	-12.4583	18.3976	0.90504	0.0:0.0:1.0:0.0	.	99	Q9H7L9	SDS3_HUMAN	I	99	.	ENSP00000380695:M99I	M	+	3	0	SUDS3	117308330	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.263000	0.95617	2.690000	0.91761	0.460000	0.39030	ATG	SUDS3	-	pfam_Sds3	ENSG00000111707		0.323	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SUDS3	HGNC	protein_coding	OTTHUMT00000401504.1	59	0.00	0	G	NM_022491		118823947	118823947	+1	no_errors	ENST00000397564	ensembl	human	known	69_37n	missense	63	30.77	28	SNP	1.000	C
TBC1D2B	23102	genome.wustl.edu	37	15	78305580	78305580	+	Missense_Mutation	SNP	C	C	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr15:78305580C>A	ENST00000300584.3	-	9	1854	c.1855G>T	c.(1855-1857)Gat>Tat	p.D619Y	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D619Y	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	619							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTCTTCAGATCCAACGCGCGG	0.443																																						dbGAP											0													65.0	64.0	64.0					15																	78305580		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1855G>T	15.37:g.78305580C>A	ENSP00000300584:p.Asp619Tyr		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.D619Y	ENST00000300584.3	37	c.1855	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.291421|3.291421	0.59976|0.59976	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.09538|.	2.97;2.97|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.047921|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;B;D|.	0.89917|.	0.999;0.046;1.0|.	D;B;D|.	0.71184|.	0.964;0.036;0.972|.	T|T	0.63093|0.63093	-0.6714|-0.6714	10|5	0.44086|.	T|.	0.13|.	.|.	18.4471|18.4471	0.90688|0.90688	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	619;71;619|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	Y|C	619|500	ENSP00000387165:D619Y;ENSP00000300584:D619Y|.	ENSP00000300584:D619Y|.	D|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76092635|76092635	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.167000|0.167000	0.22549|0.22549	7.631000|7.631000	0.83237|0.83237	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	GAT|TGG	TBC1D2B	-	NULL	ENSG00000167202		0.443	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	43	0.00	0	C	NM_015079		78305580	78305580	-1	no_errors	ENST00000300584	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	1.000	A
TRDN	10345	genome.wustl.edu	37	6	123892141	123892141	+	Silent	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr6:123892141G>T	ENST00000398178.3	-	2	180	c.159C>A	c.(157-159)gtC>gtA	p.V53V	TRDN_ENST00000334268.4_Silent_p.V53V|TRDN_ENST00000546248.1_Silent_p.V53V|TRDN_ENST00000542443.1_Silent_p.V53V	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	53					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCAGGGCAATGACCAGAAGCC	0.443																																						dbGAP											0													107.0	111.0	110.0					6																	123892141		2048	4200	6248	-	-	-	SO:0001819	synonymous_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.159C>A	6.37:g.123892141G>T			A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom	p.V53	ENST00000398178.3	37	c.159	CCDS55053.1	6																																																																																			TRDN	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000186439		0.443	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		86	0.00	0	G			123892141	123892141	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	silent	41	41.43	29	SNP	0.991	T
TRO	7216	genome.wustl.edu	37	X	54956593	54956593	+	Missense_Mutation	SNP	A	A	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chrX:54956593A>T	ENST00000173898.7	+	12	3548	c.3436A>T	c.(3436-3438)Agc>Tgc	p.S1146C	TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S749C|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.S677C|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1146	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCATGGCACCAGCCTCTGTTT	0.557																																						dbGAP											0													59.0	58.0	58.0					X																	54956593		1993	4150	6143	-	-	-	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3436A>T	X.37:g.54956593A>T	ENSP00000173898:p.Ser1146Cys		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S1146C	ENST00000173898.7	37	c.3436	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611087	0.66558	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.23348	2.04;2.04;1.91	2.72	-0.488	0.12056	.	.	.	.	.	T	0.31295	0.0792	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72338	0.974;0.977	T	0.18147	-1.0346	9	0.87932	D	0	.	6.483	0.22073	0.4509:0.0:0.5491:0.0	.	749;1146	B1AKE9;Q12816	.;TROP_HUMAN	C	1146;677;749	ENSP00000173898:S1146C;ENSP00000405126:S677C;ENSP00000364181:S749C	ENSP00000173898:S1146C	S	+	1	0	TRO	54973318	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	0.478000	0.22212	-0.165000	0.10908	0.310000	0.20435	AGC	TRO	-	NULL	ENSG00000067445		0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	71	0.00	0	A	NM_016157		54956593	54956593	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	missense	42	40.00	28	SNP	0.006	T
TRPM6	140803	genome.wustl.edu	37	9	77435343	77435343	+	Splice_Site	SNP	C	C	G	rs373030184		TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr9:77435343C>G	ENST00000360774.1	-	9	1248	c.1011G>C	c.(1009-1011)ggG>ggC	p.G337G	TRPM6_ENST00000376872.3_Splice_Site_p.G337G|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Splice_Site_p.G332G|TRPM6_ENST00000449912.2_Splice_Site_p.G332G|TRPM6_ENST00000451710.3_Splice_Site_p.G337G|TRPM6_ENST00000376871.3_Splice_Site_p.G337G|TRPM6_ENST00000376864.4_Splice_Site_p.G337G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	337					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTCGCAGCATCCTGGAAGAGA	0.453																																						dbGAP											0													84.0	80.0	81.0					9																	77435343		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1011-1G>C	9.37:g.77435343C>G			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.G337	ENST00000360774.1	37	c.1011	CCDS6647.1	9																																																																																			TRPM6	-	NULL	ENSG00000119121		0.453	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	55	0.00	0	C	NM_017662	Silent	77435343	77435343	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	silent	44	35.29	24	SNP	0.835	G
TSHZ3	57616	genome.wustl.edu	37	19	31768092	31768092	+	Silent	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr19:31768092G>A	ENST00000240587.4	-	2	2934	c.2607C>T	c.(2605-2607)tcC>tcT	p.S869S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	869					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGACTTCTCGGAGATGCTGG	0.572																																						dbGAP											0													87.0	83.0	85.0					19																	31768092		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2607C>T	19.37:g.31768092G>A			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S869	ENST00000240587.4	37	c.2607	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	58	0.00	0	G	NM_020856		31768092	31768092	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	silent	40	39.39	26	SNP	0.747	A
TTN	7273	genome.wustl.edu	37	2	179514910	179514911	+	In_Frame_Ins	INS	-	-	GAG			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:179514910_179514911insGAG	ENST00000591111.1	-	165	35500_35501	c.35276_35277insCTC	c.(35275-35277)cca>ccCTCa	p.11759_11760insS	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_In_Frame_Ins_p.13266_13267insS|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_In_Frame_Ins_p.10832_10833insS|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11759	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAACCTCTGGTTCCTCCTC	0.396																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35276_35277insCTC	2.37:g.179514910_179514911insGAG	ENSP00000465570:p.Pro11759_Glu11760insSer		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.10833in_frame_insS	ENST00000591111.1	37	c.32496_32495		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.396	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	32	0.00	0	-	NM_133378		179514910	179514911	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	in_frame_ins	9	74.29	26	INS	0.003:0.016	GAG
TTN	7273	genome.wustl.edu	37	2	179641594	179641594	+	Missense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:179641594G>A	ENST00000591111.1	-	28	5221	c.4997C>T	c.(4996-4998)aCa>aTa	p.T1666I	TTN_ENST00000589042.1_Missense_Mutation_p.T1666I|TTN_ENST00000342175.6_Missense_Mutation_p.T1620I|TTN_ENST00000359218.5_Missense_Mutation_p.T1620I|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T1620I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T1666I|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T1666I			Q8WZ42	TITIN_HUMAN	titin	12511					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTATATGTCCCCCGTGG	0.453																																						dbGAP											0													75.0	70.0	72.0					2																	179641594		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4997C>T	2.37:g.179641594G>A	ENSP00000465570:p.Thr1666Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T1666I	ENST00000591111.1	37	c.4997		2	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087711	0.20390	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66280	-0.2;0.05;0.03;0.01;0.19	5.33	5.33	0.75918	Ribonuclease H-like (1);	.	.	.	.	T	0.63651	0.2529	L	0.27053	0.805	0.34734	D	0.730032	P;P;P;P;D	0.56521	0.635;0.635;0.635;0.779;0.976	B;B;B;B;P	0.52424	0.116;0.116;0.116;0.197;0.698	T	0.74423	-0.3670	9	0.87932	D	0	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	1620;1620;1620;1666;1666	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	1666;1620;1620;1620;1620;1666	ENSP00000343764:T1666I;ENSP00000434586:T1620I;ENSP00000340554:T1620I;ENSP00000352154:T1620I;ENSP00000354117:T1666I	ENSP00000340554:T1620I	T	-	2	0	TTN	179349839	1.000000	0.71417	0.734000	0.30879	0.778000	0.44026	7.986000	0.88173	2.518000	0.84900	0.650000	0.86243	ACA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	65	0.00	0	G	NM_133378		179641594	179641594	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	10	78.72	37	SNP	0.996	A
TXNDC15	79770	genome.wustl.edu	37	5	134223692	134223693	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr5:134223692_134223693AG>CT	ENST00000358387.4	+	2	1036_1037	c.411_412AG>CT	c.(409-414)ggAGca>ggCTca	p.A138S	TXNDC15_ENST00000546290.1_Missense_Mutation_p.A115S	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	138					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCGCTGGAGCACACTTCCC	0.554																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	Exception_encountered	5.37:g.134223692_134223693delinsCT	ENSP00000351157:p.Ala138Ser		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E121A|p.A138S	ENST00000358387.4	37	c.362|c.412	CCDS4180.1	5																																																																																			TXNDC15	-	NULL	ENSG00000113621		0.554	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC15	HGNC	protein_coding	OTTHUMT00000251160.1	54	0.00	0	A|G	NM_024715		134223692|134223693	134223692|134223693	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region|no_errors	ENST00000508779|ENST00000358387	ensembl	human	putative|known	69_37n	missense	6	80.00|80.65	24|25	SNP	0.000	C|T
UNC5B	219699	genome.wustl.edu	37	10	73048351	73048351	+	Missense_Mutation	SNP	A	A	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr10:73048351A>C	ENST00000335350.6	+	7	1344	c.928A>C	c.(928-930)Aag>Cag	p.K310Q	UNC5B_ENST00000373192.4_Missense_Mutation_p.K310Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	310	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGAGTGGAGCAAGTGGTCAGC	0.612																																						dbGAP											0													113.0	102.0	106.0					10																	73048351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.928A>C	10.37:g.73048351A>C	ENSP00000334329:p.Lys310Gln		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.K310Q	ENST00000335350.6	37	c.928	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	a	29.7	5.030689	0.93575	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.60920	0.15;0.15	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.45581	1.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65841	-0.6070	10	0.30078	T	0.28	-30.6258	14.4772	0.67554	1.0:0.0:0.0:0.0	.	310;310	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	Q	310	ENSP00000334329:K310Q;ENSP00000362288:K310Q	ENSP00000334329:K310Q	K	+	1	0	UNC5B	72718357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.336000	0.96533	1.833000	0.53350	0.524000	0.50904	AAG	UNC5B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000107731		0.612	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	26	0.00	0	A	NM_170744		73048351	73048351	+1	no_errors	ENST00000335350	ensembl	human	known	69_37n	missense	6	72.73	16	SNP	1.000	C
VPS13C	54832	genome.wustl.edu	37	15	62243152	62243152	+	Missense_Mutation	SNP	G	G	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr15:62243152G>T	ENST00000261517.5	-	40	4601	c.4528C>A	c.(4528-4530)Ctg>Atg	p.L1510M	VPS13C_ENST00000249837.3_Missense_Mutation_p.L1467M|VPS13C_ENST00000395896.4_Missense_Mutation_p.L1510M|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1467M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCTTTGTCAGTAACATTTTC	0.308																																						dbGAP											0													44.0	44.0	44.0					15																	62243152		2203	4296	6499	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4528C>A	15.37:g.62243152G>T	ENSP00000261517:p.Leu1510Met			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L1510M	ENST00000261517.5	37	c.4528	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873564	0.17322	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.17528	2.27;2.27;2.27	5.5	-4.67	0.03319	.	0.463445	0.23146	N	0.051419	T	0.07188	0.0182	N	0.03608	-0.345	0.09310	N	1	P;P;P;P	0.44309	0.58;0.702;0.58;0.832	P;P;P;B	0.45474	0.482;0.482;0.482;0.332	T	0.34354	-0.9832	10	0.66056	D	0.02	.	7.5921	0.28027	0.3984:0.0:0.48:0.1216	.	1467;1510;1467;1510	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	1467;1510;1510;1510	ENSP00000249837:L1467M;ENSP00000261517:L1510M;ENSP00000379233:L1510M	ENSP00000249837:L1467M	L	-	1	2	VPS13C	60030444	0.210000	0.23517	0.006000	0.13384	0.145000	0.21501	-0.122000	0.10627	-0.835000	0.04234	-0.482000	0.04802	CTG	VPS13C	-	NULL	ENSG00000129003		0.308	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	49	0.00	0	G	NM_017684		62243152	62243152	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	8	79.49	31	SNP	0.002	T
ZC3HAV1	56829	genome.wustl.edu	37	7	138764516	138764516	+	Missense_Mutation	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr7:138764516G>C	ENST00000242351.5	-	4	1487	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L391V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L391V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	391					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGTGTTTGCAGAGAGCCAAGA	0.542																																						dbGAP											0													107.0	105.0	105.0					7																	138764516		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1171C>G	7.37:g.138764516G>C	ENSP00000242351:p.Leu391Val		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L391V	ENST00000242351.5	37	c.1171	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194275	0.09599	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.17691	3.26;3.25;2.26	3.54	-0.392	0.12442	.	2.564020	0.01556	N	0.019903	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	1	B;B	0.28933	0.228;0.002	B;B	0.27796	0.083;0.001	T	0.20107	-1.0285	10	0.14252	T	0.57	.	5.5841	0.17266	0.0:0.2693:0.4775:0.2532	.	391;391	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	V	391;391;391;151	ENSP00000242351:L391V;ENSP00000418385:L391V;ENSP00000419855:L391V	ENSP00000242351:L391V	L	-	1	2	ZC3HAV1	138415056	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.043000	0.03535	-0.089000	0.12484	-0.165000	0.13383	CTG	ZC3HAV1	-	NULL	ENSG00000105939		0.542	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	80	0.00	0	G	NM_020119		138764516	138764516	-1	no_errors	ENST00000242351	ensembl	human	known	69_37n	missense	8	90.91	80	SNP	0.000	C
ZDBF2	57683	genome.wustl.edu	37	2	207171420	207171420	+	Missense_Mutation	SNP	A	A	T			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:207171420A>T	ENST00000374423.3	+	5	2554	c.2168A>T	c.(2167-2169)cAa>cTa	p.Q723L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	723							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATGAGCCTCAAGAAGCTTTG	0.413																																						dbGAP											0													85.0	85.0	85.0					2																	207171420		1830	4091	5921	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2168A>T	2.37:g.207171420A>T	ENSP00000363545:p.Gln723Leu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.Q723L	ENST00000374423.3	37	c.2168	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	A	5.021	0.189569	0.09547	.	.	ENSG00000204186	ENST00000374423	T	0.46819	0.86	4.11	-2.89	0.05665	.	2.093400	0.02470	N	0.087404	T	0.40272	0.1110	L	0.54323	1.7	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.24225	-1.0166	10	0.52906	T	0.07	.	2.9378	0.05820	0.2974:0.4602:0.0932:0.1493	.	723	Q9HCK1	ZDBF2_HUMAN	L	723	ENSP00000363545:Q723L	ENSP00000363545:Q723L	Q	+	2	0	ZDBF2	206879665	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.431000	0.21444	-0.505000	0.06568	-0.313000	0.08912	CAA	ZDBF2	-	NULL	ENSG00000204186		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	65	0.00	0	A	NM_020923		207171420	207171420	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	7	80.49	33	SNP	0.001	T
ZNF512B	57473	genome.wustl.edu	37	20	62594493	62594493	+	Silent	SNP	G	G	C			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr20:62594493G>C	ENST00000450537.1	-	12	1983	c.1923C>G	c.(1921-1923)tcC>tcG	p.S641S	ZNF512B_ENST00000217130.3_Silent_p.S641S|ZNF512B_ENST00000369888.1_Silent_p.S641S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGCCAGCCTTGGATCGGTACG	0.647																																						dbGAP											0													53.0	32.0	39.0					20																	62594493		2188	4288	6476	-	-	-	SO:0001819	synonymous_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1923C>G	20.37:g.62594493G>C			Q08AK9|Q9ULM4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S641	ENST00000450537.1	37	c.1923	CCDS13548.1	20																																																																																			ZNF512B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196700		0.647	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	25	0.00	0	G	NM_020713		62594493	62594493	-1	no_errors	ENST00000217130	ensembl	human	known	69_37n	silent	9	40.00	6	SNP	1.000	C
ZNF513	130557	genome.wustl.edu	37	2	27601550	27601550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr2:27601550G>A	ENST00000323703.6	-	3	781	c.583C>T	c.(583-585)Cga>Tga	p.R195*	ZNF513_ENST00000407879.1_Nonsense_Mutation_p.R133*|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	195					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGTATGTCGTGTCAGGTTG	0.657																																						dbGAP											0													145.0	117.0	127.0					2																	27601550		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.583C>T	2.37:g.27601550G>A	ENSP00000318373:p.Arg195*		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R195*	ENST00000323703.6	37	c.583	CCDS1751.1	2	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120296	0.56613	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	.	.	.	4.76	4.76	0.60689	.	0.000000	0.43110	D	0.000611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-2.7256	16.5112	0.84286	0.0:0.0:1.0:0.0	.	.	.	.	X	195;133	.	ENSP00000318373:R195X	R	-	1	2	ZNF513	27455054	1.000000	0.71417	0.998000	0.56505	0.198000	0.23893	2.733000	0.47360	2.472000	0.83506	0.655000	0.94253	CGA	ZNF513	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163795		0.657	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF513	HGNC	protein_coding	OTTHUMT00000215026.2	102	0.00	0	G	NM_144631		27601550	27601550	-1	no_errors	ENST00000323703	ensembl	human	known	69_37n	nonsense	28	70.53	67	SNP	0.998	A
ZNF99	7652	genome.wustl.edu	37	19	22940729	22940729	+	Missense_Mutation	SNP	G	G	A			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr19:22940729G>A	ENST00000596209.1	-	4	2072	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F	ZNF99_ENST00000397104.3_Missense_Mutation_p.S570F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGTGTGAGGACCACTTAAA	0.378																																						dbGAP											0													53.0	55.0	55.0					19																	22940729		2144	4255	6399	-	-	-	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1982C>T	19.37:g.22940729G>A	ENSP00000472969:p.Ser661Phe		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S570F	ENST00000596209.1	37	c.1709	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.969138	0.00457	.	.	ENSG00000213973	ENST00000397104	T	0.08008	3.14	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	M	0.76002	2.32	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.52162	-0.8612	9	0.08837	T	0.75	.	0.7699	0.01022	0.1829:0.1418:0.3333:0.342	.	570	A8MXY4	ZNF99_HUMAN	F	570	ENSP00000380293:S570F	ENSP00000380293:S570F	S	-	2	0	ZNF99	22732569	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.850000	0.00732	-2.422000	0.00563	-1.116000	0.02052	TCC	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	23	0.00	0	G	XM_065124		22940729	22940729	-1	no_errors	ENST00000397104	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.000	A
ZSCAN21	7589	genome.wustl.edu	37	7	99655431	99655431	+	Missense_Mutation	SNP	C	C	G			TCGA-HN-A2NL-01A-11D-A18P-09	TCGA-HN-A2NL-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73d09eab-d3f5-442d-aea8-690b282fd68a	e21e6d93-3bb6-4ba1-8c65-e20c13cfdf16	g.chr7:99655431C>G	ENST00000292450.4	+	3	674	c.510C>G	c.(508-510)caC>caG	p.H170Q	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.H170Q|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.H170Q	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	170					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGACCAGTCACAAATACGAGT	0.547																																						dbGAP											0													69.0	68.0	68.0					7																	99655431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.510C>G	7.37:g.99655431C>G	ENSP00000292450:p.His170Gln		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H170Q	ENST00000292450.4	37	c.510	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417412	0.25552	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.05199	4.36;3.48;4.36;4.3	4.81	1.78	0.24846	.	1.309430	0.05641	N	0.583507	T	0.04048	0.0113	N	0.24115	0.695	0.09310	N	1	B;B	0.32968	0.054;0.392	B;B	0.23018	0.013;0.043	T	0.41251	-0.9519	10	0.27082	T	0.32	.	4.1837	0.10388	0.0:0.5936:0.1927:0.2137	.	170;170	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	Q	170;170;170;170;145	ENSP00000441212:H170Q;ENSP00000292450:H170Q;ENSP00000390960:H170Q;ENSP00000404207:H170Q	ENSP00000292450:H170Q	H	+	3	2	ZSCAN21	99493367	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.116000	0.10724	0.731000	0.32448	0.655000	0.94253	CAC	ZSCAN21	-	NULL	ENSG00000166529		0.547	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	69	0.00	0	C	NM_145914		99655431	99655431	+1	no_errors	ENST00000292450	ensembl	human	known	69_37n	missense	33	40.68	24	SNP	0.000	G
