#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CA9	768	genome.wustl.edu	37	9	35674290	35674290	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr9:35674290G>T	ENST00000378357.4	+	1	438	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	112	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GAAGTTAGAGGATCTACCTAC	0.493																																						dbGAP											0													64.0	56.0	59.0					9																	35674290		2203	4300	6503	-	-	-	SO:0001583	missense	0			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.334G>T	9.37:g.35674290G>T	ENSP00000367608:p.Asp112Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4R1	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.D112Y	ENST00000378357.4	37	c.334	CCDS6585.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.113632	0.94339	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.70986	-0.53	4.68	4.68	0.58851	.	2.563350	0.02257	N	0.067225	T	0.81432	0.4821	L	0.36672	1.1	0.43593	D	0.995941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.67654	-0.5615	10	0.87932	D	0	.	13.3166	0.60411	0.0:0.0:1.0:0.0	.	112;112	F5H404;Q16790	.;CAH9_HUMAN	Y	112	ENSP00000367608:D112Y	ENSP00000367608:D112Y	D	+	1	0	CA9	35664290	1.000000	0.71417	0.978000	0.43139	0.962000	0.63368	3.936000	0.56568	2.606000	0.88127	0.655000	0.94253	GAT	CA9	-	NULL	ENSG00000107159		0.493	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	HGNC	protein_coding	OTTHUMT00000055479.1	175	0.00	0	G	NM_001216		35674290	35674290	+1	no_errors	ENST00000378357	ensembl	human	known	69_37n	missense	99	23.85	31	SNP	1.000	T
CLIC5	53405	genome.wustl.edu	37	6	46047880	46047880	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:46047880C>T	ENST00000185206.6	-	1	252	c.100G>A	c.(100-102)Gat>Aat	p.D34N		NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	34					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGACATCATCATAATGGGGA	0.408																																						dbGAP											0													167.0	137.0	146.0					6																	46047880		692	1591	2283	-	-	-	SO:0001583	missense	0			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.100G>A	6.37:g.46047880C>T	ENSP00000185206:p.Asp34Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.D34N	ENST00000185206.6	37	c.100	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833750	0.32421	.	.	ENSG00000112782	ENST00000185206	T	0.20598	2.06	5.1	1.16	0.20824	.	0.306670	0.27927	N	0.017294	T	0.04452	0.0122	N	0.19112	0.55	0.20307	N	0.999918	B	0.14805	0.011	B	0.11329	0.006	T	0.36648	-0.9739	10	0.87932	D	0	.	8.5356	0.33362	0.0:0.467:0.4489:0.0841	.	34	Q9NZA1	CLIC5_HUMAN	N	34	ENSP00000185206:D34N	ENSP00000185206:D34N	D	-	1	0	CLIC5	46155839	0.077000	0.21312	0.004000	0.12327	0.018000	0.09664	0.035000	0.13797	0.090000	0.17273	-0.176000	0.13171	GAT	CLIC5	-	NULL	ENSG00000112782		0.408	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	223	0.00	0	C			46047880	46047880	-1	no_errors	ENST00000185206	ensembl	human	known	69_37n	missense	236	16.01	45	SNP	0.023	T
CYSLTR2	57105	genome.wustl.edu	37	13	49281015	49281015	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr13:49281015G>A	ENST00000282018.3	+	1	65	c.62G>A	c.(61-63)gGc>gAc	p.G21D		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	21					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAACCAAATGGCACCTTCAGC	0.368																																						dbGAP											0													84.0	87.0	86.0					13																	49281015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.62G>A	13.37:g.49281015G>A	ENSP00000282018:p.Gly21Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCQ2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_TAS2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_P2_purnocptor,prints_Protea_act_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.G21D	ENST00000282018.3	37	c.62	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680714	0.47886	.	.	ENSG00000152207	ENST00000282018	T	0.37752	1.18	5.7	-0.304	0.12788	.	1.436910	0.04552	N	0.390082	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12941	-1.0528	10	0.10636	T	0.68	.	1.7977	0.03065	0.3515:0.1129:0.3998:0.1359	.	21	Q9NS75	CLTR2_HUMAN	D	21	ENSP00000282018:G21D	ENSP00000282018:G21D	G	+	2	0	CYSLTR2	48179016	0.000000	0.05858	0.003000	0.11579	0.927000	0.56198	-0.135000	0.10420	-0.428000	0.07339	-0.150000	0.13652	GGC	CYSLTR2	-	prints_CLT2_recept	ENSG00000152207		0.368	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	100	0.00	0	G			49281015	49281015	+1	no_errors	ENST00000282018	ensembl	human	known	69_37n	missense	88	17.76	19	SNP	0.000	A
DNAH17	8632	genome.wustl.edu	37	17	76556902	76556902	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr17:76556902C>A	ENST00000585328.1	-	13	2075	c.1951G>T	c.(1951-1953)Gac>Tac	p.D651Y	DNAH17_ENST00000389840.5_Missense_Mutation_p.D651Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	651	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTGGCAGTCCTGGTCCACG	0.602																																						dbGAP											0													54.0	36.0	42.0					17																	76556902		2077	4017	6094	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1951G>T	17.37:g.76556902C>A	ENSP00000465516:p.Asp651Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.D651Y	ENST00000585328.1	37	c.1951		17	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345167	0.61073	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55930	0.49	4.54	4.54	0.55810	.	1.158180	0.06730	U	0.776578	T	0.69708	0.3141	L	0.56769	1.78	0.37586	D	0.919995	D	0.56035	0.974	P	0.60789	0.879	T	0.63910	-0.6530	10	0.59425	D	0.04	.	15.4404	0.75178	0.0:1.0:0.0:0.0	.	353	Q9UFH2-4	.	Y	651	ENSP00000374490:D651Y	ENSP00000300671:D651Y	D	-	1	0	DNAH17	74068497	0.998000	0.40836	1.000000	0.80357	0.677000	0.39632	4.132000	0.57977	2.234000	0.73211	0.557000	0.71058	GAC	DNAH17	-	pfam_Dynein_heavy_dom-1	ENSG00000187775		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	43	0.00	0	C	NM_173628		76556902	76556902	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	A
DNAH3	55567	genome.wustl.edu	37	16	20974834	20974834	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr16:20974834C>T	ENST00000261383.3	-	53	10371	c.10372G>A	c.(10372-10374)Gag>Aag	p.E3458K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3458					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGAGTTGCTCCTCATGGGGC	0.542																																						dbGAP											0													89.0	72.0	78.0					16																	20974834		2201	4300	6501	-	-	-	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10372G>A	16.37:g.20974834C>T	ENSP00000261383:p.Glu3458Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3458K	ENST00000261383.3	37	c.10372	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	9.757	1.168991	0.21621	.	.	ENSG00000158486	ENST00000261383	T	0.08896	3.04	5.39	4.43	0.53597	Dynein heavy chain (1);	0.125932	0.51477	D	0.000090	T	0.17492	0.0420	M	0.82823	2.61	0.46416	D	0.999032	P	0.41673	0.759	B	0.43990	0.438	T	0.01256	-1.1404	10	0.36615	T	0.2	.	13.5062	0.61485	0.0:0.925:0.0:0.075	.	3458	Q8TD57	DYH3_HUMAN	K	3458	ENSP00000261383:E3458K	ENSP00000261383:E3458K	E	-	1	0	DNAH3	20882335	0.918000	0.31147	0.353000	0.25747	0.388000	0.30384	3.109000	0.50345	2.521000	0.84997	0.563000	0.77884	GAG	DNAH3	-	pfam_Dynein_heavy	ENSG00000158486		0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	405	0.00	0	C	NM_017539		20974834	20974834	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	200	18.95	47	SNP	0.166	T
EEA1	8411	genome.wustl.edu	37	12	93226389	93226389	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr12:93226389C>G	ENST00000322349.8	-	11	1417	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	385					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TACTTGGTCTCTACCTCAGAT	0.393																																						dbGAP											0													183.0	170.0	174.0					12																	93226389		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1153G>C	12.37:g.93226389C>G	ENSP00000317955:p.Glu385Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E385Q	ENST00000322349.8	37	c.1153	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541647	0.65085	.	.	ENSG00000102189	ENST00000322349	T	0.69561	-0.41	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000052	T	0.67468	0.2896	L	0.34521	1.04	0.80722	D	1	D	0.56968	0.978	P	0.51324	0.666	T	0.65455	-0.6164	10	0.34782	T	0.22	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	385	Q15075	EEA1_HUMAN	Q	385	ENSP00000317955:E385Q	ENSP00000317955:E385Q	E	-	1	0	EEA1	91750520	1.000000	0.71417	0.995000	0.50966	0.175000	0.22909	6.625000	0.74248	2.577000	0.86979	0.655000	0.94253	GAG	EEA1	-	NULL	ENSG00000102189		0.393	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	106	0.00	0	C	NM_003566		93226389	93226389	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	missense	100	24.81	33	SNP	1.000	G
FANCM	57697	genome.wustl.edu	37	14	45658083	45658085	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr14:45658083_45658085delGAA	ENST00000267430.5	+	20	4943_4945	c.4858_4860delGAA	c.(4858-4860)gaadel	p.E1622del	FANCM_ENST00000542564.2_In_Frame_Del_p.E1596del	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1622					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCAATCAAGTGAAGAAGAAGTTT	0.325								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0										21,4243		2,17,2113						3.3	1.0			89	4,8246		2,0,4123	no	coding	FANCM	NM_020937.2		4,17,6236	A1A1,A1R,RR		0.0485,0.4925,0.1998				25,12489				-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4858_4860delGAA	14.37:g.45658089_45658091delGAA	ENSP00000267430:p.Glu1622del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	In_Frame_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1622in_frame_del	ENST00000267430.5	37	c.4858_4860	CCDS32070.1	14																																																																																			FANCM	-	NULL	ENSG00000187790		0.325	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	111	0.00	0	GAA	XM_048128		45658083	45658085	+1	no_errors	ENST00000267430	ensembl	human	known	69_37n	in_frame_del	87	20.18	22	DEL	1.000:0.998:0.996	-
FBXO11	80204	genome.wustl.edu	37	2	48047527	48047527	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr2:48047527C>T	ENST00000403359.3	-	14	1843	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	FBXO11_ENST00000402508.1_Missense_Mutation_p.D507N|FBXO11_ENST00000316377.4_Missense_Mutation_p.D507N|FBXO11_ENST00000434523.2_Intron	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	591					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTGGCCATCATGAATTTTG	0.363			"""Mis, F, D"""		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											97.0	92.0	94.0					2																	48047527		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1771G>A	2.37:g.48047527C>T	ENSP00000384823:p.Asp591Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.D591N	ENST00000403359.3	37	c.1771	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120043	0.56613	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.79653	-1.29;-1.29;-1.29	5.35	5.35	0.76521	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	0.089344	0.85682	D	0.000000	T	0.78117	0.4233	L	0.42245	1.32	0.80722	D	1	B	0.34349	0.45	B	0.37422	0.249	T	0.75505	-0.3294	10	0.35671	T	0.21	7.4961	19.2535	0.93935	0.0:1.0:0.0:0.0	.	591	Q86XK2	FBX11_HUMAN	N	507;591;507	ENSP00000385398:D507N;ENSP00000384823:D591N;ENSP00000323822:D507N	ENSP00000323822:D507N	D	-	1	0	FBXO11	47901031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.596000	0.82721	2.780000	0.95670	0.655000	0.94253	GAT	FBXO11	-	superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	ENSG00000138081		0.363	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	108	0.00	0	C	NM_012167, NM_018693, NM_025133		48047527	48047527	-1	no_errors	ENST00000403359	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	T
HLA-DRB6	3128	genome.wustl.edu	37	6	32522535	32522535	+	RNA	SNP	C	C	T	rs201413801	byFrequency	TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:32522535C>T	ENST00000411500.1	-	0	671					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		CTCTCCACTCCGAGGAACTGT	0.522																																						dbGAP											0																																										-	-	-			0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522535C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-	ENSG00000229391		0.522	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	9	0.00	0	C	NR_001298		32522535	32522535	-1	no_errors	ENST00000411500	ensembl	human	known	69_37n	rna	8	40.00	6	SNP	0.975	T
HLA-DQB1	3119	genome.wustl.edu	37	6	32634318	32634318	+	Missense_Mutation	SNP	C	C	A	rs3891176	byFrequency	TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:32634318C>A	ENST00000399082.3	-	1	111	c.67G>T	c.(67-69)Gcg>Tcg	p.A23S	HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.A23S|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.A23S|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.A23S|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.A23S			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	23			A -> S (in allele DQB1*02:01 and allele DQB1*02:02; dbSNP:rs3891176).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	CTCAGCATCGCCAGCATCAAG	0.582									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				C|||	736	0.146965	0.171	0.1513	5008	,	,		9453	0.0575		0.1769	False		,,,				2504	0.1728				Esophageal Squamous(151;720 1825 15000 40336 43415)	dbGAP											0													54.0	53.0	53.0					6																	32634318		1960	4115	6075	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.67G>T	6.37:g.32634318C>A	ENSP00000382032:p.Ala23Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.A23S	ENST00000399082.3	37	c.67		6	238	0.10897435897435898	55	0.11178861788617886	51	0.1408839779005525	32	0.055944055944055944	100	0.13192612137203166	.	13.75	2.330244	0.41297	.	.	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084	T;T;T;T;T	0.05513	3.76;3.43;3.43;3.43;3.43	4.3	-3.85	0.04243	.	1.411740	0.04739	U	0.422481	T	0.03305	0.0096	M	0.67953	2.075	0.80722	P	0.0	D;B;B;B	0.53151	0.958;0.012;0.001;0.003	P;B;B;B	0.46917	0.531;0.014;0.005;0.014	T	0.24799	-1.0150	9	0.66056	D	0.02	.	1.5524	0.02578	0.1513:0.1952:0.15:0.5035	rs3891176;rs9274518;rs34136982	33;23;23;23	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	S	23	ENSP00000382032:A23S;ENSP00000382029:A23S;ENSP00000364080:A23S;ENSP00000407332:A23S;ENSP00000382034:A23S	ENSP00000364080:A23S	A	-	1	0	HLA-DQB1	32742296	0.000000	0.05858	0.179000	0.23059	0.023000	0.10783	-2.101000	0.01344	-0.296000	0.08947	0.454000	0.30748	GCG	HLA-DQB1	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000179344		0.582	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276131.1	12	0.00	0	C	NM_002123		32634318	32634318	-1	no_errors	ENST00000374943	ensembl	human	known	69_37n	missense	23	33.33	12	SNP	0.043	A
GSTA5	221357	genome.wustl.edu	37	6	52701123	52701123	+	Silent	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:52701123G>A	ENST00000370989.2	-	3	212	c.183C>T	c.(181-183)gaC>gaT	p.D61D	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Silent_p.D61D			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	61	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GCTTCATCCCGTCAATCTCAA	0.428																																						dbGAP											0													127.0	125.0	126.0					6																	52701123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.183C>T	6.37:g.52701123G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZC2	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.D61	ENST00000370989.2	37	c.183	CCDS4946.1	6																																																																																			GSTA5	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000182793		0.428	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	227	0.00	0	G	NM_153699		52701123	52701123	-1	no_errors	ENST00000284562	ensembl	human	known	69_37n	silent	245	20.13	62	SNP	1.000	A
IPO4	79711	genome.wustl.edu	37	14	24656970	24656970	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr14:24656970G>A	ENST00000354464.6	-	5	487	c.311C>T	c.(310-312)tCa>tTa	p.S104L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	104					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AATGGTGGCTGAGAGCTGGGC	0.572																																						dbGAP											0													39.0	45.0	43.0					14																	24656970		2036	4194	6230	-	-	-	SO:0001583	missense	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.311C>T	14.37:g.24656970G>A	ENSP00000346453:p.Ser104Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.S104L	ENST00000354464.6	37	c.311	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651196	0.29336	.	.	ENSG00000196497	ENST00000354464	T	0.02369	4.32	5.38	4.49	0.54785	Armadillo-like helical (1);Armadillo-type fold (1);	0.585221	0.17542	N	0.170489	T	0.03651	0.0104	L	0.43152	1.355	0.40203	D	0.977534	B	0.09022	0.002	B	0.15052	0.012	T	0.39313	-0.9620	10	0.45353	T	0.12	-0.116	9.8098	0.40815	0.0917:0.0:0.9083:0.0	.	104	Q8TEX9	IPO4_HUMAN	L	104	ENSP00000346453:S104L	ENSP00000346453:S104L	S	-	2	0	IPO4	23726810	0.782000	0.28689	0.924000	0.36721	0.773000	0.43773	1.803000	0.38863	1.494000	0.48533	0.655000	0.94253	TCA	IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.572	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	78	0.00	0	G	NM_024658		24656970	24656970	-1	no_errors	ENST00000354464	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.889	A
ITGB1	3688	genome.wustl.edu	37	10	33217185	33217185	+	Silent	SNP	T	T	C			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr10:33217185T>C	ENST00000396033.2	-	5	519	c.384A>G	c.(382-384)ccA>ccG	p.P128P	ITGB1_ENST00000374956.4_Silent_p.P128P|ITGB1_ENST00000423113.1_Silent_p.P128P|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000302278.3_Silent_p.P128P	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	128					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TAAATGTCTGTGGCTCCCCTA	0.378																																						dbGAP											0													104.0	105.0	104.0					10																	33217185		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.384A>G	10.37:g.33217185T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.P128	ENST00000396033.2	37	c.384	CCDS7174.1	10																																																																																			ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000150093		0.378	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	106	0.00	0	T	NM_002211		33217185	33217185	-1	no_errors	ENST00000374956	ensembl	human	known	69_37n	silent	65	27.78	25	SNP	0.215	C
LRP2	4036	genome.wustl.edu	37	2	170060630	170060630	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr2:170060630C>G	ENST00000263816.3	-	42	8152	c.7867G>C	c.(7867-7869)Ggg>Cgg	p.G2623R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2623					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGACCTGACCCGTCATATTTG	0.438																																						dbGAP											0													204.0	210.0	208.0					2																	170060630		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7867G>C	2.37:g.170060630C>G	ENSP00000263816:p.Gly2623Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2623R	ENST00000263816.3	37	c.7867	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026651	0.93518	.	.	ENSG00000081479	ENST00000263816	D	0.94828	-3.53	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99260	1.0890	10	0.87932	D	0	.	19.5584	0.95363	0.0:1.0:0.0:0.0	.	2623	P98164	LRP2_HUMAN	R	2623	ENSP00000263816:G2623R	ENSP00000263816:G2623R	G	-	1	0	LRP2	169768876	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.618000	0.88619	0.655000	0.94253	GGG	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	239	0.00	0	C	NM_004525		170060630	170060630	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	166	24.20	53	SNP	1.000	G
LRRC16A	55604	genome.wustl.edu	37	6	25600890	25600890	+	Silent	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:25600890G>A	ENST00000329474.6	+	33	3836	c.3468G>A	c.(3466-3468)cgG>cgA	p.R1156R		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1156					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGGCAGGGCGGAGGTATGGGG	0.542																																						dbGAP											0													45.0	53.0	51.0					6																	25600890		2042	4197	6239	-	-	-	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3468G>A	6.37:g.25600890G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R1156	ENST00000329474.6	37	c.3468	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.542	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	319	0.00	0	G	NM_017640		25600890	25600890	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	silent	222	21.83	62	SNP	0.853	A
MGAM	8972	genome.wustl.edu	37	7	141780655	141780655	+	Intron	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr7:141780655C>T	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.S1971F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCGTGCCATCCAGCACCCCT	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-13765C>T	7.37:g.141780655C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S1972F	ENST00000549489.2	37	c.5915	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	6.017	0.371454	0.11409	.	.	ENSG00000257335	ENST00000475668	.	.	.	4.67	3.79	0.43588	.	.	.	.	.	T	0.41534	0.1163	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30475	-0.9977	5	0.51188	T	0.08	.	7.8848	0.29644	0.1595:0.7534:0.0:0.087	.	.	.	.	F	1972	.	ENSP00000417515:S1972F	S	+	2	0	MGAM	141427124	0.000000	0.05858	0.216000	0.23742	0.025000	0.11179	0.555000	0.23422	1.110000	0.41699	0.462000	0.41574	TCC	MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	155	0.00	0	C			141780655	141780655	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	missense	57	42.42	42	SNP	0.012	T
NNT	23530	genome.wustl.edu	37	5	43704416	43704416	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr5:43704416C>G	ENST00000264663.5	+	22	3392	c.3171C>G	c.(3169-3171)ttC>ttG	p.F1057L	NNT_ENST00000512996.2_Missense_Mutation_p.F926L|NNT_ENST00000344920.4_Missense_Mutation_p.F1057L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1057					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATCCAATCTTCTACAAACCTA	0.423																																						dbGAP											0													192.0	164.0	173.0					5																	43704416		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3171C>G	5.37:g.43704416C>G	ENSP00000264663:p.Phe1057Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.F1057L	ENST00000264663.5	37	c.3171	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141408	0.77775	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95171	-3.63;-3.63;-3.63	5.18	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96691	0.9511	10	0.62326	D	0.03	-16.3084	8.4237	0.32716	0.0:0.767:0.0:0.233	.	1057	Q13423	NNTM_HUMAN	L	572;1057;1057;926	ENSP00000264663:F1057L;ENSP00000343873:F1057L;ENSP00000426343:F926L	ENSP00000264663:F1057L	F	+	3	2	NNT	43740173	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.243000	0.32767	1.196000	0.43129	-0.145000	0.13849	TTC	NNT	-	pfam_NADH_DH_b	ENSG00000112992		0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	147	0.00	0	C	NM_182977		43704416	43704416	+1	no_errors	ENST00000264663	ensembl	human	known	69_37n	missense	141	23.24	43	SNP	1.000	G
OGN	4969	genome.wustl.edu	37	9	95147960	95147960	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr9:95147960C>G	ENST00000262551.4	-	7	1259	c.839G>C	c.(838-840)gGa>gCa	p.G280A	OGN_ENST00000375561.5_Missense_Mutation_p.G280A|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	280					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TGGATGCTTTCCCAGGACGAT	0.408																																						dbGAP											0													150.0	143.0	146.0					9																	95147960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.839G>C	9.37:g.95147960C>G	ENSP00000262551:p.Gly280Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G280A	ENST00000262551.4	37	c.839	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622868	0.28889	.	.	ENSG00000106809	ENST00000262551;ENST00000375561	T;T	0.59224	0.28;0.28	5.42	5.42	0.78866	.	0.168586	0.51477	D	0.000090	T	0.45276	0.1334	L	0.28014	0.82	0.43029	D	0.994595	B;B	0.22851	0.072;0.076	B;B	0.19666	0.016;0.026	T	0.31223	-0.9951	10	0.23302	T	0.38	.	16.1559	0.81666	0.0:0.8578:0.1422:0.0	.	338;280	B4DI63;P20774	.;MIME_HUMAN	A	280	ENSP00000262551:G280A;ENSP00000364711:G280A	ENSP00000262551:G280A	G	-	2	0	OGN	94187781	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.275000	0.43399	2.708000	0.92522	0.650000	0.86243	GGA	OGN	-	NULL	ENSG00000106809		0.408	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	203	0.00	0	C	NM_024416		95147960	95147960	-1	no_errors	ENST00000262551	ensembl	human	known	69_37n	missense	170	26.09	60	SNP	1.000	G
PDE3B	5140	genome.wustl.edu	37	11	14666376	14666377	+	Frame_Shift_Ins	INS	-	-	G	rs201771414		TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr11:14666376_14666377insG	ENST00000282096.4	+	1	1108_1109	c.755_756insG	c.(754-759)gtggggfs	p.VG252fs	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Frame_Shift_Ins_p.VG252fs|PDE3B_ENST00000534317.1_3'UTR	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	252					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TCCGGCCTGGTGGGGGGCGCTG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.761dupG	11.37:g.14666382_14666382dupG	ENSP00000282096:p.Val252fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM37|O00639|Q14408|Q6SEI4	Frame_Shift_Ins	INS	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A255fs	ENST00000282096.4	37	c.755_756	CCDS7817.1	11																																																																																			PDE3B	-	NULL	ENSG00000152270		0.649	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1	21	0.00	0	-	NM_000922		14666376	14666377	+1	no_errors	ENST00000282096	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	0.719:0.721	G
PDZRN3	23024	genome.wustl.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr3:73433778G>A	ENST00000263666.4	-	10	2053	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662																																						dbGAP											0													55.0	61.0	59.0					3																	73433778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1939C>T	3.37:g.73433778G>A	ENSP00000263666:p.Arg647Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R647C	ENST00000263666.4	37	c.1939	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438370	0.62955	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.13901	2.55;3.25;3.14;3.14;3.26;3.21	4.28	4.28	0.50868	.	0.058403	0.64402	D	0.000002	T	0.35038	0.0918	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;P;P;P	0.64321	0.924;0.739;0.901;0.739	T	0.24512	-1.0158	10	0.87932	D	0	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	369;364;364;647	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	647;369;304;304;364;345	ENSP00000263666:R647C;ENSP00000442026:R369C;ENSP00000418168:R304C;ENSP00000418484:R304C;ENSP00000418624:R364C;ENSP00000419250:R345C	ENSP00000263666:R647C	R	-	1	0	PDZRN3	73516468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.212000	0.71576	0.655000	0.94253	CGC	PDZRN3	-	NULL	ENSG00000121440		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	75	0.00	0	G	XM_041363		73433778	73433778	-1	no_errors	ENST00000263666	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	1.000	A
PTK7	5754	genome.wustl.edu	37	6	43099859	43099859	+	Silent	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:43099859G>A	ENST00000230419.4	+	6	1139	c.918G>A	c.(916-918)caG>caA	p.Q306Q	PTK7_ENST00000471863.1_Silent_p.Q306Q|PTK7_ENST00000352931.2_Silent_p.Q306Q|PTK7_ENST00000481273.1_Silent_p.Q314Q|PTK7_ENST00000345201.2_Silent_p.Q306Q|PTK7_ENST00000349241.2_Silent_p.Q306Q	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	306	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCAGGGGCAGAGGGGCCCAC	0.607																																						dbGAP											0													42.0	43.0	42.0					6																	43099859		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.918G>A	6.37:g.43099859G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q306	ENST00000230419.4	37	c.918	CCDS4884.1	6																																																																																			PTK7	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000112655		0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	44	0.00	0	G			43099859	43099859	+1	no_errors	ENST00000230419	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	0.998	A
SLC46A1	113235	genome.wustl.edu	37	17	26723195	26723195	+	3'UTR	SNP	G	G	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr17:26723195G>T	ENST00000440501.1	-	0	4952				SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_Nonsense_Mutation_p.E655*|SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CGAATACCAGGAGGCCACCAT	0.607																																						dbGAP											0													78.0	68.0	71.0					17																	26723195		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3477C>A	17.37:g.26723195G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.E655*	ENST00000440501.1	37	c.1963		17	.	.	.	.	.	.	.	.	.	.	G	41	9.150458	0.99082	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	4.84	4.84	0.62591	.	0.059111	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-27.3339	17.9677	0.89105	0.0:0.0:1.0:0.0	.	.	.	.	X	687;655	.	ENSP00000003834:E655X	E	+	1	0	SARM1	23747322	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.718000	0.74713	2.222000	0.72286	0.561000	0.74099	GAG	SARM1	-	smart_TIR_dom	ENSG00000004139		0.607	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SARM1	HGNC	protein_coding		216	0.00	0	G	NM_080669		26723195	26723195	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	nonsense	110	23.61	34	SNP	1.000	T
SHROOM4	57477	genome.wustl.edu	37	X	50376535	50376535	+	Silent	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chrX:50376535G>A	ENST00000289292.7	-	4	2821	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	SHROOM4_ENST00000460112.3_Silent_p.S730S|SHROOM4_ENST00000376020.2_Silent_p.S846S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	846					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGGTGACATGGAATGATATG	0.453																																						dbGAP											0													209.0	181.0	190.0					X																	50376535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2538C>T	X.37:g.50376535G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S846	ENST00000289292.7	37	c.2538	CCDS35277.1	X																																																																																			SHROOM4	-	NULL	ENSG00000158352		0.453	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	305	0.00	0	G	NM_020717		50376535	50376535	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	silent	148	25.87	52	SNP	0.936	A
STK31	56164	genome.wustl.edu	37	7	23825188	23825188	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr7:23825188G>C	ENST00000355870.3	+	18	2359	c.2240G>C	c.(2239-2241)cGt>cCt	p.R747P	STK31_ENST00000428484.1_Missense_Mutation_p.R724P|STK31_ENST00000354639.3_Missense_Mutation_p.R724P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.R747P	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	747	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTGGTACGTTCTGAGGTT	0.438																																						dbGAP											0													209.0	195.0	200.0					7																	23825188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2240G>C	7.37:g.23825188G>C	ENSP00000348132:p.Arg747Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.R747P	ENST00000355870.3	37	c.2240	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972194	0.53614	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.75367	-0.93;1.99;-0.93;-0.93	5.24	5.24	0.73138	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.250172	0.41294	D	0.000911	T	0.65554	0.2702	L	0.29908	0.895	0.31132	N	0.70761	P;B	0.42993	0.797;0.299	B;B	0.39299	0.296;0.086	T	0.67296	-0.5706	10	0.30078	T	0.28	-3.7759	18.7834	0.91944	0.0:0.0:1.0:0.0	.	747;747	B4DZ06;Q9BXU1	.;STK31_HUMAN	P	747;747;724;724	ENSP00000348132:R747P;ENSP00000411852:R747P;ENSP00000346660:R724P;ENSP00000406146:R724P	ENSP00000346660:R724P	R	+	2	0	STK31	23791713	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.453000	0.80700	2.580000	0.87095	0.650000	0.86243	CGT	STK31	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000196335		0.438	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	310	0.00	0	G	NM_031414		23825188	23825188	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	missense	202	25.19	68	SNP	1.000	C
UBE2Q1	55585	genome.wustl.edu	37	1	154528347	154528350	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	CTTT	CTTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr1:154528347_154528350delCTTT	ENST00000292211.4	-	2	497_500	c.418_421delAAAG	c.(418-423)aaagggfs	p.KG140fs	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	140					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAGTATTCCCTTTCTTTATGTCC	0.534																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.418_421delAAAG	1.37:g.154528351_154528354delCTTT	ENSP00000292211:p.Lys140fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Frame_Shift_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K140fs	ENST00000292211.4	37	c.421_418	CCDS1069.1	1																																																																																			UBE2Q1	-	superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000160714		0.534	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	93	0.00	0	CTTT	NM_017582		154528347	154528350	-1	no_errors	ENST00000292211	ensembl	human	known	69_37n	frame_shift_del	171	12.24	24	DEL	1.000:1.000:1.000:1.000	-
VPS53	55275	genome.wustl.edu	37	17	559191	559191	+	Silent	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr17:559191C>T	ENST00000571805.1	-	6	511	c.375G>A	c.(373-375)gtG>gtA	p.V125V	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000437048.2_Silent_p.V125V|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000291074.5_Silent_p.V96V			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	125					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGATTTCTTTCACCTAAACAT	0.443																																						dbGAP											0													156.0	130.0	139.0					17																	559191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.375G>A	17.37:g.559191C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.V125	ENST00000571805.1	37	c.375		17																																																																																			VPS53	-	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	ENSG00000141252		0.443	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	354	0.00	0	C	NM_018289		559191	559191	-1	no_errors	ENST00000437048	ensembl	human	known	69_37n	silent	216	29.41	90	SNP	0.922	T
WIF1	11197	genome.wustl.edu	37	12	65514331	65514331	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr12:65514331C>T	ENST00000286574.4	-	2	528	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	52	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATATCTTCTTCAAATCCTGGT	0.343			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	dbGAP		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													96.0	102.0	100.0					12																	65514331		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.154G>A	12.37:g.65514331C>T	ENSP00000286574:p.Glu52Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EGF-like,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.E52K	ENST00000286574.4	37	c.154	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998853	0.54147	.	.	ENSG00000156076	ENST00000286574	T	0.46451	0.87	5.35	5.35	0.76521	WIF domain (4);	0.170455	0.35124	N	0.003431	T	0.51873	0.1700	N	0.22421	0.69	0.58432	D	0.999997	D	0.67145	0.996	D	0.78314	0.991	T	0.45804	-0.9236	9	.	.	.	.	19.4452	0.94844	0.0:1.0:0.0:0.0	.	52	Q9Y5W5	WIF1_HUMAN	K	52	ENSP00000286574:E52K	.	E	-	1	0	WIF1	63800598	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	6.673000	0.74482	2.680000	0.91292	0.655000	0.94253	GAA	WIF1	-	pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh	ENSG00000156076		0.343	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	HGNC	protein_coding	OTTHUMT00000401258.2	68	0.00	0	C			65514331	65514331	-1	no_errors	ENST00000286574	ensembl	human	known	69_37n	missense	67	31.63	31	SNP	1.000	T
WTAP	9589	genome.wustl.edu	37	6	160169354	160169354	+	Silent	SNP	G	G	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr6:160169354G>T	ENST00000358372.4	+	6	2162	c.405G>T	c.(403-405)ctG>ctT	p.L135L	WTAP_ENST00000337387.4_Silent_p.L135L|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	135					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AAGACAAACTGGAACAAGCCC	0.453																																						dbGAP											0													65.0	65.0	65.0					6																	160169354		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.405G>T	6.37:g.160169354G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	NULL	p.L135	ENST00000358372.4	37	c.405	CCDS5266.1	6																																																																																			WTAP	-	NULL	ENSG00000146457		0.453	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	236	0.00	0	G	NM_152857		160169354	160169354	+1	no_errors	ENST00000358372	ensembl	human	known	69_37n	silent	129	32.11	61	SNP	1.000	T
ZHX3	23051	genome.wustl.edu	37	20	39831958	39831958	+	Silent	SNP	G	G	A			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr20:39831958G>A	ENST00000309060.3	-	4	2014	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	ZHX3_ENST00000544979.2_Silent_p.L533L|ZHX3_ENST00000560361.1_Silent_p.L533L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.L533L|ZHX3_ENST00000432768.2_Silent_p.L533L|ZHX3_ENST00000559234.1_Silent_p.L533L|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	533	Required for nuclear localization.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTCTGGTACTGAGGCCCGTCA	0.512																																						dbGAP											0													69.0	65.0	66.0					20																	39831958		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1599C>T	20.37:g.39831958G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q242*	ENST00000309060.3	37	c.724	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	G	1.922	-0.448078	0.04572	.	.	ENSG00000174306	ENST00000421422	.	.	.	5.93	0.325	0.15903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.5788	3.466	0.07550	0.1886:0.3252:0.3829:0.1033	.	.	.	.	X	242	.	.	Q	-	1	0	ZHX3	39265372	0.597000	0.26874	0.998000	0.56505	0.598000	0.36846	-0.180000	0.09754	0.102000	0.17638	0.561000	0.74099	CAG	ZHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000174306		0.512	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	218	0.00	0	G	NM_015035		39831958	39831958	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000421422	ensembl	human	novel	69_37n	nonsense	143	21.20	39	SNP	0.949	A
ZNF213	7760	genome.wustl.edu	37	16	3191255	3191255	+	Silent	SNP	C	C	T			TCGA-A2-A04X-01A-21W-A050-09	TCGA-A2-A04X-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66a73891-2fea-450c-8224-0865d98b4346	20662b69-e7e6-4f78-a7fb-2c1562ca4223	g.chr16:3191255C>T	ENST00000396878.3	+	6	1762	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZNF213_ENST00000576416.1_Silent_p.F429F|ZNF213_ENST00000574902.1_Silent_p.F429F|ZNF213_ENST00000416391.2_Silent_p.F271F|CASP16_ENST00000428155.1_5'Flank	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	429					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGCGGCCCTTCGGCTGCGGAG	0.672																																						dbGAP											0													39.0	41.0	40.0					16																	3191255		2197	4299	6496	-	-	-	SO:0001819	synonymous_variant	0			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1287C>T	16.37:g.3191255C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B9|B4DMG6|Q96IS1	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F429	ENST00000396878.3	37	c.1287	CCDS10495.1	16																																																																																			ZNF213	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085644		0.672	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	HGNC	protein_coding	OTTHUMT00000437334.1	42	0.00	0	C	NM_004220		3191255	3191255	+1	no_errors	ENST00000396878	ensembl	human	known	69_37n	silent	25	28.57	10	SNP	0.314	T
