#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
ACSBG2	81616	genome.wustl.edu	37	19	6183236	6183236	+	Silent	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr19:6183236C>T	ENST00000586696.1	+	10	1551	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	ACSBG2_ENST00000591403.1_Silent_p.S425S|ACSBG2_ENST00000588485.1_Silent_p.S238S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Silent_p.S375S|ACSBG2_ENST00000252669.5_Silent_p.S425S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	425					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGTGAGAGCTCGGGACCCC	0.537																																						dbGAP											0													71.0	72.0	72.0					19																	6183236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1275C>T	19.37:g.6183236C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.S425	ENST00000586696.1	37	c.1275	CCDS12159.1	19																																																																																			ACSBG2	-	pfam_AMP-dep_Synth/Lig	ENSG00000130377		0.537	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	23	0.00	0	C	NM_030924		6183236	6183236	+1	no_errors	ENST00000252669	ensembl	human	known	69_37n	silent	16	48.39	15	SNP	0.997	T
ADD2	119	genome.wustl.edu	37	2	70931513	70931513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr2:70931513G>A	ENST00000264436.4	-	4	706	c.262C>T	c.(262-264)Cga>Tga	p.R88*	ADD2_ENST00000413157.2_Nonsense_Mutation_p.R88*|ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R104*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R88*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R88*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	88					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCGATCTGTCGCAGGGCCCAG	0.597																																						dbGAP											0													160.0	138.0	145.0					2																	70931513		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.262C>T	2.37:g.70931513G>A	ENSP00000264436:p.Arg88*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Nonsense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.R88*	ENST00000264436.4	37	c.262	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.863019	0.98982	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	.	.	.	5.14	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-22.5328	11.2777	0.49176	0.0:0.0:0.5178:0.4822	.	.	.	.	X	88;88;88;88;88;88;88;88;104;88;88	.	ENSP00000264436:R88X	R	-	1	2	ADD2	70785021	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.384000	0.52478	0.727000	0.32360	0.655000	0.94253	CGA	ADD2	-	NULL	ENSG00000075340		0.597	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	22	0.00	0	G	NM_001617		70931513	70931513	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	nonsense	7	63.16	12	SNP	1.000	A
AKT3	10000	genome.wustl.edu	37	1	243727042	243727042	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:243727042G>C	ENST00000366539.1	-	10	1128	c.928C>G	c.(928-930)Cca>Gca	p.P310A	AKT3_ENST00000336199.5_Missense_Mutation_p.P310A|AKT3_ENST00000366540.1_Missense_Mutation_p.P310A|AKT3_ENST00000263826.5_Missense_Mutation_p.P310A			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGATATTCTGGAGTGCCACAG	0.383																																						dbGAP											0													169.0	155.0	159.0					1																	243727042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.928C>G	1.37:g.243727042G>C	ENSP00000355497:p.Pro310Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.P310A	ENST00000366539.1	37	c.928	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692266	0.88735	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	L	0.55213	1.73	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.74023	0.982;0.969	T	0.51748	-0.8666	10	0.87932	D	0	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	310;310	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	A	310	ENSP00000336943:P310A;ENSP00000355498:P310A;ENSP00000355497:P310A;ENSP00000263826:P310A	ENSP00000263826:P310A	P	-	1	0	AKT3	241793665	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	9.869000	0.99810	2.789000	0.95967	0.591000	0.81541	CCA	AKT3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000117020		0.383	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	145	0.00	0	G	NM_181690		243727042	243727042	-1	no_errors	ENST00000263826	ensembl	human	known	69_37n	missense	65	29.35	27	SNP	1.000	C
ALS2	57679	genome.wustl.edu	37	2	202590162	202590162	+	Silent	SNP	T	T	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr2:202590162T>C	ENST00000264276.6	-	20	3636	c.3264A>G	c.(3262-3264)agA>agG	p.R1088R	ALS2_ENST00000457679.2_Silent_p.R400R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1088					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGTTTGGGATTCTGTATTCTC	0.358																																						dbGAP											0													203.0	200.0	201.0					2																	202590162		1858	4095	5953	-	-	-	SO:0001819	synonymous_variant	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3264A>G	2.37:g.202590162T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_MORN,pfam_DH-domain,superfamily_DH-domain,smart_MORN,pfscan_DH-domain	p.N409D	ENST00000264276.6	37	c.1225	CCDS42800.1	2																																																																																			ALS2	-	pfam_MORN,smart_MORN	ENSG00000003393		0.358	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	129	0.00	0	T	NM_020919		202590162	202590162	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000439495	ensembl	human	known	69_37n	missense	37	62.63	62	SNP	1.000	C
ANKRD18B	441459	genome.wustl.edu	37	9	33572347	33572347	+	Missense_Mutation	SNP	T	T	C	rs7853994	byFrequency	TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr9:33572347T>C	ENST00000290943.6	+	16	3121	c.3025T>C	c.(3025-3027)Ttt>Ctt	p.F1009L		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	1009										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TCCTATCTACTTTCTTCTCTA	0.323													.|||	972	0.194089	0.1679	0.2104	5008	,	,		16850	0.2103		0.2048	False		,,,				2504	0.1902					dbGAP											0																																										-	-	-	SO:0001583	missense	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.3025T>C	9.37:g.33572347T>C	ENSP00000290943:p.Phe1009Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F1009L	ENST00000290943.6	37	c.3025		9	467	0.21382783882783882	102	0.2073170731707317	84	0.23204419889502761	125	0.21853146853146854	156	0.20580474934036938	T	11.80	1.746056	0.30955	.	.	ENSG00000230453	ENST00000290943	T	0.26223	1.75	1.46	-2.27	0.06846	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.30974	P	0.7227589999999999	.	.	.	.	.	.	T	0.40850	-0.9541	5	0.08837	T	0.75	.	5.3397	0.15976	0.0:0.3931:0.0:0.6069	rs7853994;rs17503365;rs52813410;rs7853994	.	.	.	L	1009	ENSP00000290943:F1009L	ENSP00000290943:F1009L	F	+	1	0	ANKRD18B	33562347	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.197000	0.09518	-0.749000	0.04747	0.248000	0.18094	TTT	ANKRD18B	-	NULL	ENSG00000230453		0.323	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	10	0.00	0	T	XM_001718334		33572347	33572347	+1	no_errors	ENST00000290943	ensembl	human	known	69_37n	missense	0	100.00	8	SNP	0.000	C
ANO2	57101	genome.wustl.edu	37	12	5674793	5674793	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr12:5674793G>T	ENST00000356134.5	-	26	2732	c.2661C>A	c.(2659-2661)aaC>aaA	p.N887K	ANO2_ENST00000546188.1_Missense_Mutation_p.N887K|ANO2_ENST00000327087.8_Missense_Mutation_p.N886K	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	891					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCATAAGGGTTCGGGGCCC	0.493																																						dbGAP											0													44.0	43.0	43.0					12																	5674793		1848	4090	5938	-	-	-	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2661C>A	12.37:g.5674793G>T	ENSP00000348453:p.Asn887Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.N887K	ENST00000356134.5	37	c.2661		12	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869161	0.32977	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.64803	-0.12;-0.12;-0.12	4.95	4.95	0.65309	.	0.104089	0.64402	D	0.000004	T	0.49508	0.1561	L	0.35542	1.07	0.37672	D	0.923179	P	0.39940	0.696	B	0.42030	0.373	T	0.49960	-0.8883	10	0.17369	T	0.5	.	9.2011	0.37258	0.1671:0.0:0.8329:0.0	.	886	Q9NQ90-3	.	K	886;887;887;891	ENSP00000314048:N886K;ENSP00000348453:N887K;ENSP00000440981:N887K	ENSP00000314048:N886K	N	-	3	2	ANO2	5545054	0.981000	0.34729	1.000000	0.80357	0.980000	0.70556	0.698000	0.25571	2.309000	0.77851	0.561000	0.74099	AAC	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.493	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	31	0.00	0	G	NM_020373		5674793	5674793	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	0.884	T
AWAT1	158833	genome.wustl.edu	37	X	69459753	69459753	+	Silent	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:69459753C>T	ENST00000374521.3	+	6	842	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	267					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCACTGGGCTCCTGCCATACT	0.537																																						dbGAP											0													77.0	70.0	72.0					X																	69459753		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.801C>T	X.37:g.69459753C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.L267	ENST00000374521.3	37	c.801	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT	ENSG00000204195		0.537	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	86	0.00	0	C	NM_001013579		69459753	69459753	+1	no_errors	ENST00000374521	ensembl	human	known	69_37n	silent	81	27.68	31	SNP	0.704	T
BCLAF1	9774	genome.wustl.edu	37	6	136596775	136596776	+	Frame_Shift_Ins	INS	-	-	T	rs78118727	byFrequency	TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr6:136596775_136596776insT	ENST00000531224.1	-	6	1998_1999	c.1746_1747insA	c.(1744-1749)gagcaafs	p.Q583fs	BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.Q581fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.Q581fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.Q581fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.Q410fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.Q583fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	583					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGGAATTCTTGCTCCTTCTTGA	0.416																																					Colon(142;1534 1789 5427 7063 28491)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1746_1747insA	6.37:g.136596775_136596776insT	ENSP00000435210:p.Gln583fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Ins	INS	NULL	p.Q582fs	ENST00000531224.1	37	c.1747_1746	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.416	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	108	0.00	0	-	NM_014739		136596775	136596776	-1	no_errors	ENST00000531224	ensembl	human	known	69_37n	frame_shift_ins	46	11.54	6	INS	1.000:0.999	T
BICC1	80114	genome.wustl.edu	37	10	60553276	60553276	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr10:60553276G>A	ENST00000373886.3	+	9	1084	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	BICC1_ENST00000263103.1_5'Flank	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	360					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGTTTGATATGAAGGAAGAAA	0.358																																						dbGAP											0													145.0	133.0	137.0					10																	60553276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1080G>A	10.37:g.60553276G>A	ENSP00000362993:p.Met360Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.M360I	ENST00000373886.3	37	c.1080	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116396	0.37339	.	.	ENSG00000122870	ENST00000373886	T	0.27256	1.68	5.76	5.76	0.90799	.	0.035866	0.85682	D	0.000000	T	0.18045	0.0433	N	0.16790	0.44	0.80722	D	1	B;B	0.18461	0.028;0.001	B;B	0.09377	0.004;0.002	T	0.10154	-1.0642	10	0.11794	T	0.64	-17.7842	19.9664	0.97271	0.0:0.0:1.0:0.0	.	280;360	E7EU62;Q9H694	.;BICC1_HUMAN	I	360	ENSP00000362993:M360I	ENSP00000362993:M360I	M	+	3	0	BICC1	60223282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.117000	0.50407	2.718000	0.92993	0.655000	0.94253	ATG	BICC1	-	NULL	ENSG00000122870		0.358	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	223	0.00	0	G	NM_025044		60553276	60553276	+1	no_errors	ENST00000373886	ensembl	human	known	69_37n	missense	203	22.73	60	SNP	1.000	A
BSDC1	55108	genome.wustl.edu	37	1	32849538	32849538	+	Missense_Mutation	SNP	C	C	T	rs551508208		TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:32849538C>T	ENST00000455895.2	-	4	283	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	BSDC1_ENST00000341071.7_Missense_Mutation_p.V101M|BSDC1_ENST00000446293.2_Missense_Mutation_p.V101M|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000413080.1_Missense_Mutation_p.V84M|BSDC1_ENST00000449308.1_Missense_Mutation_p.V84M	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	84										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCTGAGATCACCCCTAGGAAG	0.552																																						dbGAP											0													188.0	168.0	175.0					1																	32849538		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.250G>A	1.37:g.32849538C>T	ENSP00000412173:p.Val84Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.V101M	ENST00000455895.2	37	c.301	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.436770	0.96168	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000325745;ENST00000446293;ENST00000449308;ENST00000527163;ENST00000530485	.	.	.	5.12	5.12	0.69794	.	0.055968	0.64402	D	0.000001	T	0.73265	0.3565	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.984;0.984;0.996	P;P;P	0.61940	0.896;0.891;0.838	T	0.74127	-0.3765	9	0.56958	D	0.05	-8.7773	18.4217	0.90592	0.0:1.0:0.0:0.0	.	101;101;84	Q9NW68-7;Q9NW68-3;Q9NW68	.;.;BSDC1_HUMAN	M	84;84;101;84;101;84;18;45	.	ENSP00000317670:V84M	V	-	1	0	BSDC1	32622125	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.684000	0.84104	2.764000	0.94973	0.563000	0.77884	GTG	BSDC1	-	NULL	ENSG00000160058		0.552	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	60	0.00	0	C	NM_018045		32849538	32849538	-1	no_errors	ENST00000341071	ensembl	human	known	69_37n	missense	47	45.35	39	SNP	1.000	T
C11orf52	91894	genome.wustl.edu	37	11	111789707	111789707	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr11:111789707G>C	ENST00000278601.5	+	1	107	c.11G>C	c.(10-12)cGg>cCg	p.R4P	HSPB2-C11orf52_ENST00000534100.1_3'UTR|CRYAB_ENST00000527950.1_Intron	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	4						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ATGGGAAACCGGGTCTGCTGC	0.562																																						dbGAP											0													100.0	92.0	95.0					11																	111789707		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.11G>C	11.37:g.111789707G>C	ENSP00000278601:p.Arg4Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R4P	ENST00000278601.5	37	c.11	CCDS8353.1	11	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351289	0.24512	.	.	ENSG00000149300	ENST00000529342;ENST00000278601	T;T	0.53423	0.62;0.62	5.39	-3.78	0.04333	.	1.585720	0.03721	N	0.251923	T	0.44265	0.1285	L	0.32530	0.975	0.09310	N	0.999999	P	0.49447	0.924	P	0.46685	0.524	T	0.55173	-0.8182	10	0.72032	D	0.01	-0.3663	12.3561	0.55176	0.5818:0.0:0.4182:0.0	.	4	Q96A22	CK052_HUMAN	P	4	ENSP00000436268:R4P;ENSP00000278601:R4P	ENSP00000278601:R4P	R	+	2	0	C11orf52	111294917	0.001000	0.12720	0.005000	0.12908	0.309000	0.27889	-1.126000	0.03254	-0.799000	0.04439	0.655000	0.94253	CGG	C11orf52	-	NULL	ENSG00000149300		0.562	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf52	HGNC	protein_coding	OTTHUMT00000391673.1	43	0.00	0	G	NM_080659		111789707	111789707	+1	no_errors	ENST00000278601	ensembl	human	known	69_37n	missense	19	64.29	36	SNP	0.007	C
CAP1	10487	genome.wustl.edu	37	1	40525103	40525103	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:40525103C>G	ENST00000372797.3	+	2	646	c.85C>G	c.(85-87)Cgt>Ggt	p.R29G	CAP1_ENST00000372792.2_Missense_Mutation_p.R29G|CAP1_ENST00000372798.1_Missense_Mutation_p.R29G|CAP1_ENST00000340450.3_Missense_Mutation_p.R29G|CAP1_ENST00000372802.1_Missense_Mutation_p.R29G|CAP1_ENST00000372805.3_Missense_Mutation_p.R29G	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACATGCACCGTGGGTATGC	0.493																																						dbGAP											0													76.0	77.0	76.0					1																	40525103		1932	4137	6069	-	-	-	SO:0001583	missense	0			L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.85C>G	1.37:g.40525103C>G	ENSP00000361883:p.Arg29Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.R29G	ENST00000372797.3	37	c.85	CCDS41309.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506008	0.26949	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414893;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000372794;ENST00000427843;ENST00000424977;ENST00000417287;ENST00000446031	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.75	-3.31	0.04988	Adenylate cyclase-associated CAP, N-terminal (1);	0.673555	0.15701	N	0.248915	T	0.03053	0.0090	N	0.02345	-0.59	0.20196	N	0.999924	B	0.02656	0.0	B	0.04013	0.001	T	0.39231	-0.9624	10	0.14656	T	0.56	-3.9532	1.697	0.02864	0.1234:0.2346:0.1663:0.4757	.	29	Q01518	CAP1_HUMAN	G	29;29;29;29;29;29;29;29;6;29;29;29;29;29;29;29;29;29	ENSP00000361883:R29G;ENSP00000361888:R29G;ENSP00000398475:R29G;ENSP00000403198:R29G;ENSP00000398877:R29G;ENSP00000408561:R29G;ENSP00000410586:R29G;ENSP00000361878:R29G;ENSP00000361884:R29G;ENSP00000344832:R29G;ENSP00000361891:R29G;ENSP00000412859:R29G;ENSP00000413656:R29G;ENSP00000413383:R29G;ENSP00000400943:R29G;ENSP00000389974:R29G	ENSP00000344832:R29G	R	+	1	0	CAP1	40297690	0.961000	0.32948	0.817000	0.32601	0.965000	0.64279	0.480000	0.22244	-0.250000	0.09555	-0.355000	0.07637	CGT	CAP1	-	pfam_Adenylate_cyclase-assoc_CAP_N	ENSG00000131236		0.493	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CAP1	HGNC	protein_coding	OTTHUMT00000013109.1	41	0.00	0	C	NM_006367		40525103	40525103	+1	no_errors	ENST00000372792	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.709	G
CD300A	11314	genome.wustl.edu	37	17	72469868	72469868	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr17:72469868G>C	ENST00000360141.3	+	2	522	c.234G>C	c.(232-234)agG>agC	p.R78S	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	78	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGTCCATCAGGGACAGTCCTG	0.527																																						dbGAP											0													169.0	148.0	155.0					17																	72469868		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.234G>C	17.37:g.72469868G>C	ENSP00000353259:p.Arg78Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R78S	ENST00000360141.3	37	c.234	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	7.592	0.670885	0.14776	.	.	ENSG00000167851	ENST00000360141	T	0.03524	3.9	4.06	-0.463	0.12164	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.645030	0.13304	N	0.398031	T	0.04952	0.0133	M	0.66439	2.03	0.80722	D	1	P	0.37330	0.59	B	0.39094	0.29	T	0.43637	-0.9379	10	0.54805	T	0.06	.	2.9399	0.05826	0.218:0.0:0.3999:0.3821	.	78	Q9UGN4	CLM8_HUMAN	S	78	ENSP00000353259:R78S	ENSP00000353259:R78S	R	+	3	2	CD300A	69981463	0.856000	0.29760	0.994000	0.49952	0.010000	0.07245	0.150000	0.16263	0.074000	0.16767	0.305000	0.20034	AGG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000167851		0.527	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	47	0.00	0	G	NM_007261		72469868	72469868	+1	no_errors	ENST00000360141	ensembl	human	known	69_37n	missense	64	11.11	8	SNP	0.997	C
CNIH1	10175	genome.wustl.edu	37	14	54896977	54896977	+	Splice_Site	SNP	A	A	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr14:54896977A>C	ENST00000216416.4	-	4	511		c.e4+1		CNIH1_ENST00000553660.1_Splice_Site|CNIH1_ENST00000557690.1_Splice_Site|CNIH1_ENST00000395573.4_Intron|CNIH1_ENST00000556113.1_Nonstop_Mutation_p.*137E	NM_005776.2	NP_005767.1	O95406	CNIH1_HUMAN	cornichon family AMPA receptor auxiliary protein 1						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTTTCAACTTACCCATATAGG	0.323																																						dbGAP											0													84.0	80.0	81.0					14																	54896977		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF031379	CCDS9717.1	14q22.1	2013-08-28	2013-08-28	2013-08-28	ENSG00000100528	ENSG00000100528			19431	protein-coding gene	gene with protein product		611287	"""cornichon homolog (Drosophila)"""	CNIH		10209299	Standard	NM_005776		Approved	TGAM77, CNIL	uc001xat.1	O95406	OTTHUMG00000152335	ENST00000216416.4:c.407+1T>G	14.37:g.54896977A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYM7	Splice_Site	SNP	-	e4+2	ENST00000216416.4	37	c.407+2	CCDS9717.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.68|19.68	3.873607|3.873607	0.72180|0.72180	.|.	.|.	ENSG00000100528|ENSG00000100528	ENST00000216416;ENST00000553660;ENST00000557690|ENST00000556113	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999985|0.999985	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.3747|15.3747	0.74596|0.74596	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|E	-1|137	.|.	.|.	.|X	-|-	.|1	.|0	CNIH|CNIH	53966727|53966727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.854000|0.854000	0.48673|0.48673	8.709000|8.709000	0.91379|0.91379	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	.|TAA	CNIH	-	-	ENSG00000100528		0.323	CNIH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH	HGNC	protein_coding	OTTHUMT00000276896.2	128	0.00	0	A	NM_005776	Intron	54896977	54896977	-1	no_errors	ENST00000216416	ensembl	human	known	69_37n	splice_site	97	39.51	64	SNP	1.000	C
CNKSR3	154043	genome.wustl.edu	37	6	154763259	154763259	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr6:154763259T>A	ENST00000607772.1	-	3	926	c.382A>T	c.(382-384)Atc>Ttc	p.I128F	CNKSR3_ENST00000479339.1_Missense_Mutation_p.I48F	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	128	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GCGGCGCCGATGAGCTCCACC	0.562																																						dbGAP											0													52.0	55.0	54.0					6																	154763259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.382A>T	6.37:g.154763259T>A	ENSP00000475915:p.Ile128Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SGD5|Q96N65	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.I128F	ENST00000607772.1	37	c.382	CCDS5246.1	6	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797380	0.90538	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.60424	0.88;0.19	5.81	5.81	0.92471	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	L	0.61218	1.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.71928	-0.4444	10	0.62326	D	0.03	.	16.1447	0.81559	0.0:0.0:0.0:1.0	.	128	Q6P9H4	CNKR3_HUMAN	F	128;48	ENSP00000356182:I128F;ENSP00000418975:I48F	ENSP00000356182:I128F	I	-	1	0	CNKSR3	154804951	1.000000	0.71417	0.994000	0.49952	0.635000	0.38103	7.655000	0.83696	2.215000	0.71742	0.533000	0.62120	ATC	CNKSR3	-	pfam_CRIC_domain_Chordata	ENSG00000153721		0.562	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	19	0.00	0	T	NM_173515		154763259	154763259	-1	no_errors	ENST00000367213	ensembl	human	known	69_37n	missense	21	48.78	20	SNP	1.000	A
CRIP2	1397	genome.wustl.edu	37	14	105945815	105945815	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr14:105945815C>G	ENST00000329146.4	+	7	1257	c.544C>G	c.(544-546)Ctc>Gtc	p.L182V	CRIP2_ENST00000483017.3_Missense_Mutation_p.L256V|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	182	Gly-rich.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		CTATGGAATCCTCTTCGGACC	0.657																																						dbGAP											0													144.0	134.0	138.0					14																	105945815		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.544C>G	14.37:g.105945815C>G	ENSP00000328521:p.Leu182Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L182V	ENST00000329146.4	37	c.544	CCDS10003.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.277556|4.277556	0.80580|0.80580	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000483017;ENST00000329146|ENST00000550577;ENST00000538259	D;D|.	0.93019|.	-3.15;-3.15|.	4.06|4.06	4.06|4.06	0.47325|0.47325	Zinc finger, LIM-type (2);|.	0.000000|.	0.34088|.	U|.	0.004279|.	D|D	0.85075|0.85075	0.5614|0.5614	M|M	0.93328|0.93328	3.405|3.405	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	D;D;D|.	0.85130|.	0.997;0.997;0.992|.	D|D	0.89556|0.89556	0.3803|0.3803	10|5	0.49607|.	T|.	0.09|.	-36.0948|-36.0948	14.9374|14.9374	0.70967|0.70967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	256;182;182|.	B7Z6C0;Q53FN1;P52943|.	.;.;CRIP2_HUMAN|.	V|R	256;182|77;165	ENSP00000426119:L256V;ENSP00000328521:L182V|.	ENSP00000328521:L182V|.	L|P	+|+	1|2	0|0	CRIP2|CRIP2	105016860|105016860	0.998000|0.998000	0.40836|0.40836	0.984000|0.984000	0.44739|0.44739	0.969000|0.969000	0.65631|0.65631	3.942000|3.942000	0.56614|0.56614	2.082000|2.082000	0.62665|0.62665	0.313000|0.313000	0.20887|0.20887	CTC|CCT	CRIP2	-	pfscan_Znf_LIM	ENSG00000182809		0.657	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIP2	HGNC	protein_coding	OTTHUMT00000074597.3	20	0.00	0	C	NM_001312		105945815	105945815	+1	no_errors	ENST00000329146	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	1.000	G
DEFB113	245927	genome.wustl.edu	37	6	49937333	49937333	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr6:49937333C>G	ENST00000398718.1	-	1	5	c.6G>C	c.(4-6)aaG>aaC	p.K2N		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	2					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TACAAAGTATCTTCATTGCTG	0.343																																						dbGAP											0													99.0	99.0	99.0					6																	49937333		1860	4087	5947	-	-	-	SO:0001583	missense	0			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.6G>C	6.37:g.49937333C>G	ENSP00000381703:p.Lys2Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.K2N	ENST00000398718.1	37	c.6	CCDS43472.1	6	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624190	0.28889	.	.	ENSG00000214642	ENST00000398718	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.31223	N	0.697224	D	0.89917	1.0	D	0.83275	0.996	T	0.55995	-0.8052	6	.	.	.	-13.0918	11.9256	0.52817	0.0:1.0:0.0:0.0	.	2	Q30KQ7	DB113_HUMAN	N	2	.	.	K	-	3	2	DEFB113	50045292	0.973000	0.33851	0.991000	0.47740	0.193000	0.23685	1.598000	0.36740	2.262000	0.75019	0.591000	0.81541	AAG	DEFB113	-	NULL	ENSG00000214642		0.343	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	HGNC	protein_coding	OTTHUMT00000359666.1	150	0.00	0	C			49937333	49937333	-1	no_errors	ENST00000398718	ensembl	human	known	69_37n	missense	15	58.33	21	SNP	0.984	G
DYNC1I1	1780	genome.wustl.edu	37	7	95726876	95726876	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr7:95726876G>A	ENST00000324972.6	+	17	2102	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.E600K|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.E617K|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.E620K|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.E620K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	637					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGATAGCGAGGAGGAAGGCAC	0.522																																						dbGAP											0													140.0	126.0	131.0					7																	95726876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1909G>A	7.37:g.95726876G>A	ENSP00000320130:p.Glu637Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E637K	ENST00000324972.6	37	c.1909	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366397	0.82463	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T	0.73469	-0.73;-0.75;-0.74;-0.65;-0.73	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.66939	2.045	0.80722	D	1	B;P;P;B;P	0.36789	0.435;0.57;0.57;0.435;0.57	B;B;B;B;B	0.42522	0.218;0.39;0.39;0.218;0.295	T	0.78265	-0.2271	10	0.49607	T	0.09	-23.0103	19.5787	0.95455	0.0:0.0:1.0:0.0	.	620;617;620;637;600	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	K	620;637;617;600;620	ENSP00000392337:E620K;ENSP00000320130:E637K;ENSP00000398118:E617K;ENSP00000352348:E600K;ENSP00000412444:E620K	ENSP00000320130:E637K	E	+	1	0	DYNC1I1	95564812	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	GAG	DYNC1I1	-	NULL	ENSG00000158560		0.522	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	44	0.00	0	G	NM_004411		95726876	95726876	+1	no_errors	ENST00000324972	ensembl	human	known	69_37n	missense	7	56.25	9	SNP	1.000	A
EIF3I	8668	genome.wustl.edu	37	1	32691906	32691906	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:32691906G>A	ENST00000373586.1	+	5	457	c.385G>A	c.(385-387)Gat>Aat	p.D129N	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TGACCTGCGGGATCCGAGCCA	0.547																																					Colon(102;1138 2140 2180 17876)	dbGAP											0													117.0	112.0	113.0					1																	32691906		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.385G>A	1.37:g.32691906G>A	ENSP00000362688:p.Asp129Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D129N	ENST00000373586.1	37	c.385	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.420242	0.62622	.	.	ENSG00000084623	ENST00000373586	T	0.45668	0.89	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.31664	0.95	0.80722	D	1	B	0.15719	0.014	B	0.18871	0.023	T	0.09079	-1.0691	10	0.20046	T	0.44	-13.696	18.0263	0.89270	0.0:0.0:1.0:0.0	.	129	Q13347	EIF3I_HUMAN	N	129	ENSP00000362688:D129N	ENSP00000362688:D129N	D	+	1	0	EIF3I	32464493	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.425000	0.97467	2.341000	0.79615	0.457000	0.33378	GAT	EIF3I	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000084623		0.547	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	28	0.00	0	G	NM_003757		32691906	32691906	+1	no_errors	ENST00000373586	ensembl	human	known	69_37n	missense	28	53.23	33	SNP	1.000	A
EPHA10	284656	genome.wustl.edu	37	1	38185168	38185168	+	Silent	SNP	T	T	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:38185168T>G	ENST00000373048.4	-	15	2673	c.2674A>C	c.(2674-2676)Agg>Cgg	p.R892R	EPHA10_ENST00000330210.7_Silent_p.R387R|EPHA10_ENST00000427468.2_Silent_p.R892R|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	892	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGAGAACCTGGGCCGCTCA	0.612																																						dbGAP											0													48.0	57.0	54.0					1																	38185168		2043	4192	6235	-	-	-	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2674A>C	1.37:g.38185168T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R892	ENST00000373048.4	37	c.2674	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000183317		0.612	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	13	0.00	0	T	NM_173641		38185168	38185168	-1	no_errors	ENST00000427468	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	1.000	G
ETV1	2115	genome.wustl.edu	37	7	13946060	13946060	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr7:13946060C>G	ENST00000430479.1	-	12	1772	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	ETV1_ENST00000242066.5_Missense_Mutation_p.E351Q|ETV1_ENST00000403685.1_Missense_Mutation_p.E351Q|ETV1_ENST00000403527.1_Missense_Mutation_p.E329Q|ETV1_ENST00000405192.2_Missense_Mutation_p.E346Q|ETV1_ENST00000420159.2_Missense_Mutation_p.E311Q|ETV1_ENST00000343495.5_Missense_Mutation_p.E351Q|ETV1_ENST00000405358.4_Missense_Mutation_p.E383Q|ETV1_ENST00000405218.2_Missense_Mutation_p.E369Q|ETV1_ENST00000399357.3_Missense_Mutation_p.E266Q	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	369					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTAACCTCTTCAGGCTCAATC	0.348			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	dbGAP		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	0													50.0	48.0	48.0					7																	13946060		1829	4090	5919	-	-	-	SO:0001583	missense	0				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1105G>C	7.37:g.13946060C>G	ENSP00000405327:p.Glu369Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E369Q	ENST00000430479.1	37	c.1105	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.412003	0.96072	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.996;0.997;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.996;0.986;0.997;0.992;1.0	T	0.75184	-0.3407	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	357;351;383;311;266;329;369	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	Q	369;351;351;311;266;346;383;329;369;351	ENSP00000405327:E369Q;ENSP00000242066:E351Q;ENSP00000340853:E351Q;ENSP00000411626:E311Q;ENSP00000382293:E266Q;ENSP00000385381:E346Q;ENSP00000384085:E383Q;ENSP00000384138:E329Q;ENSP00000385551:E369Q;ENSP00000385686:E351Q	ENSP00000242066:E351Q	E	-	1	0	ETV1	13912585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	ETV1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000006468		0.348	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	77	0.00	0	C	NM_004956		13946060	13946060	-1	no_errors	ENST00000405218	ensembl	human	known	69_37n	missense	13	63.89	23	SNP	1.000	G
F8	2157	genome.wustl.edu	37	X	154159895	154159895	+	Silent	SNP	A	A	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:154159895A>G	ENST00000360256.4	-	14	2370	c.2170T>C	c.(2170-2172)Tta>Cta	p.L724L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	724	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACCTTCAGTAAGGCGGTCATG	0.423																																						dbGAP											0													87.0	78.0	81.0					X																	154159895		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2170T>C	X.37:g.154159895A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L724	ENST00000360256.4	37	c.2170	CCDS35457.1	X																																																																																			F8	-	superfamily_Cupredoxin	ENSG00000185010		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	68	0.00	0	A			154159895	154159895	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	silent	28	62.16	46	SNP	1.000	G
FAAH2	158584	genome.wustl.edu	37	X	57358158	57358158	+	Silent	SNP	T	T	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:57358158T>C	ENST00000374900.4	+	4	660	c.540T>C	c.(538-540)tgT>tgC	p.C180C		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	180						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTGAGTTGTGTATGTGGTATG	0.448										HNSCC(52;0.14)																												dbGAP											0													192.0	145.0	161.0					X																	57358158		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.540T>C	X.37:g.57358158T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VT2|Q96N98	Silent	SNP	pfam_Amidase,superfamily_Amidase_dom	p.C180	ENST00000374900.4	37	c.540	CCDS14375.1	X																																																																																			FAAH2	-	pfam_Amidase,superfamily_Amidase_dom	ENSG00000165591		0.448	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	79	0.00	0	T	NM_174912		57358158	57358158	+1	no_errors	ENST00000374900	ensembl	human	known	69_37n	silent	20	35.48	11	SNP	1.000	C
F8	2157	genome.wustl.edu	37	X	154194287	154194287	+	Missense_Mutation	SNP	G	G	C	rs149756842		TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:154194287G>C	ENST00000360256.4	-	9	1601	c.1401C>G	c.(1399-1401)atC>atG	p.I467M	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	467	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGTCCCAAGATTCCTGATT	0.408																																						dbGAP											0													149.0	132.0	137.0					X																	154194287		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1401C>G	X.37:g.154194287G>C	ENSP00000353393:p.Ile467Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I467M	ENST00000360256.4	37	c.1401	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646876	0.47258	.	.	ENSG00000185010	ENST00000360256	D	0.99488	-6.0	5.23	2.4	0.29515	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.276491	0.38959	N	0.001506	D	0.99020	0.9665	M	0.73217	2.22	0.26172	N	0.97986	D	0.58268	0.982	P	0.60473	0.875	D	0.96915	0.9670	10	0.72032	D	0.01	-7.0636	5.4512	0.16566	0.2436:0.0:0.612:0.1443	.	467	P00451	FA8_HUMAN	M	467	ENSP00000353393:I467M	ENSP00000353393:I467M	I	-	3	3	F8	153847481	1.000000	0.71417	0.968000	0.41197	0.925000	0.55904	0.805000	0.27112	0.411000	0.25702	-0.560000	0.04181	ATC	F8	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000185010		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	138	0.72	1	G			154194287	154194287	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	127	11.11	16	SNP	0.980	C
GRIN2A	2903	genome.wustl.edu	37	16	9857875	9857875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr16:9857875C>A	ENST00000396573.2	-	14	3835	c.3526G>T	c.(3526-3528)Gag>Tag	p.E1176*	GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1176*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1176*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1176*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E1019*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1176*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1176					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAAGCCCCTCTTCATTATGC	0.552																																						dbGAP											0													203.0	198.0	200.0					16																	9857875		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3526G>T	16.37:g.9857875C>A	ENSP00000379818:p.Glu1176*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Nonsense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E1176*	ENST00000396573.2	37	c.3526	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.215857	0.97385	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.19	5.19	0.71726	.	0.181162	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7092	0.88317	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1176;1019;1176;1176	.	.	E	-	1	0	GRIN2A	9765376	1.000000	0.71417	0.355000	0.25773	0.013000	0.08279	7.296000	0.78790	2.406000	0.81754	0.650000	0.86243	GAG	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.552	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	32	0.00	0	C			9857875	9857875	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	nonsense	4	80.00	16	SNP	0.976	A
HDAC10	83933	genome.wustl.edu	37	22	50688545	50688545	+	Silent	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr22:50688545C>T	ENST00000216271.5	-	4	688	c.336G>A	c.(334-336)caG>caA	p.Q112Q	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.Q112Q|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.Q112Q	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	112	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCCACCAGCTGCAGTCCAG	0.677																																						dbGAP											0													60.0	45.0	50.0					22																	50688545		2197	4297	6494	-	-	-	SO:0001819	synonymous_variant	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.336G>A	22.37:g.50688545C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	NULL	p.S80N	ENST00000216271.5	37	c.239	CCDS14088.1	22																																																																																			HDAC10	-	NULL	ENSG00000100429		0.677	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4	12	0.00	0	C	NM_032019		50688545	50688545	-1	no_errors	ENST00000415993	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28446656	28446656	+	Silent	SNP	T	T	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr15:28446656T>A	ENST00000261609.7	-	48	7770	c.7662A>T	c.(7660-7662)cgA>cgT	p.R2554R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGAAATCAGCTCGTTTTTTGT	0.383																																						dbGAP											0													135.0	123.0	127.0					15																	28446656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7662A>T	15.37:g.28446656T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R2554	ENST00000261609.7	37	c.7662	CCDS10021.1	15																																																																																			HERC2	-	pfam_CPH_domain	ENSG00000128731		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	126	0.00	0	T	NM_004667		28446656	28446656	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	silent	57	60.00	87	SNP	1.000	A
HNF4A	3172	genome.wustl.edu	37	20	43036067	43036067	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr20:43036067C>G	ENST00000316099.4	+	3	426	c.337C>G	c.(337-339)Cgc>Ggc	p.R113G	HNF4A_ENST00000609795.1_Missense_Mutation_p.R91G|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000316673.4_Missense_Mutation_p.R91G|HNF4A_ENST00000415691.2_Missense_Mutation_p.R113G|HNF4A_ENST00000443598.2_Missense_Mutation_p.R113G|HNF4A_ENST00000457232.1_Missense_Mutation_p.R91G	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	113					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAACCAGTGCCGCTACTGCAG	0.597																																					Colon(79;2 1269 8820 14841 52347)	dbGAP											0													77.0	64.0	68.0					20																	43036067		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.337C>G	20.37:g.43036067C>G	ENSP00000312987:p.Arg113Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.R113G	ENST00000316099.4	37	c.337	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635790	0.67130	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15	5.69	2.7	0.31948	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.152113	0.64402	D	0.000012	D	0.98077	0.9366	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;0.999;1.0	D	0.96276	0.9202	10	0.87932	D	0	.	4.812	0.13347	0.1246:0.6224:0.1204:0.1326	.	106;113;113;113;91;91;91	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	G	91;91;113;113;143;113	ENSP00000315180:R91G;ENSP00000396216:R91G;ENSP00000312987:R113G;ENSP00000410911:R113G;ENSP00000412111:R113G	ENSP00000312987:R113G	R	+	1	0	HNF4A	42469481	0.981000	0.34729	0.987000	0.45799	0.984000	0.73092	1.393000	0.34497	0.336000	0.23639	-0.163000	0.13421	CGC	HNF4A	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000101076		0.597	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	14	0.00	0	C			43036067	43036067	+1	no_errors	ENST00000316099	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	0.990	G
HYDIN	54768	genome.wustl.edu	37	16	70993566	70993566	+	Silent	SNP	A	A	G	rs1774266	byFrequency	TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr16:70993566A>G	ENST00000393567.2	-	39	6276	c.6126T>C	c.(6124-6126)caT>caC	p.H2042H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2042					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGTGTCCCATGAATGATAA	0.537													G|||	2199	0.439097	0.8608	0.3919	5008	,	,		10800	0.3968		0.164	False		,,,				2504	0.229					dbGAP											0													26.0	61.0	54.0					16																	70993566		879	3631	4510	-	-	-	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6126T>C	16.37:g.70993566A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.H2041	ENST00000393567.2	37	c.6123	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	13	0.00	0	A			70993566	70993566	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	silent	2	60.00	3	SNP	0.953	G
WDR37	22884	genome.wustl.edu	37	10	1094816	1094816	+	5'Flank	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr10:1094816C>T	ENST00000358220.1	+	0	0				IDI1_ENST00000381344.3_Missense_Mutation_p.R43Q|IDI1_ENST00000491735.1_5'UTR			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37											breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GATCAGCCTCCGGCCACAGAC	0.756																																						dbGAP											0													11.0	12.0	11.0					10																	1094816		2172	4253	6425	-	-	-	SO:0001631	upstream_gene_variant	0			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540		10.37:g.1094816C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.R43Q	ENST00000358220.1	37	c.128	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164205	0.21538	.	.	ENSG00000067064	ENST00000381344	.	.	.	0.91	-1.82	0.07857	.	9.024590	0.00567	U	0.000292	T	0.08492	0.0211	.	.	.	0.09310	N	1	P	0.39717	0.684	B	0.16289	0.015	T	0.12682	-1.0538	8	0.13108	T	0.6	.	2.5979	0.04858	0.3116:0.3771:0.3114:0.0	.	43	Q13907-2	.	Q	43	.	ENSP00000370748:R43Q	R	-	2	0	IDI1	1084816	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.881000	0.04179	-0.882000	0.03987	0.430000	0.28490	CGG	IDI1	-	NULL	ENSG00000067064		0.756	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046418.1	9	0.00	0	C	NM_014023		1094816	1094816	-1	no_errors	ENST00000381344	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	0.001	T
IFIT5	24138	genome.wustl.edu	37	10	91177984	91177984	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr10:91177984A>G	ENST00000371795.4	+	2	1241	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G	IFIT5_ENST00000416601.1_Missense_Mutation_p.D295G	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	343					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GCCTACACAGACCTGGCCAAC	0.433																																						dbGAP											0													126.0	117.0	120.0					10																	91177984		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1028A>G	10.37:g.91177984A>G	ENSP00000360860:p.Asp343Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D343G	ENST00000371795.4	37	c.1028	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	A	11.28	1.592757	0.28357	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.59638	0.25;0.25	6.03	3.68	0.42216	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.045574	0.85682	D	0.000000	T	0.56920	0.2018	M	0.70842	2.15	0.42253	D	0.991989	P;P	0.42357	0.777;0.777	B;B	0.42738	0.396;0.396	T	0.56541	-0.7962	10	0.54805	T	0.06	-11.2114	8.4282	0.32742	0.7999:0.1319:0.0681:0.0	.	343;295	Q13325;B4DDV1	IFIT5_HUMAN;.	G	343;295	ENSP00000360860:D343G;ENSP00000414042:D295G	ENSP00000360860:D343G	D	+	2	0	IFIT5	91167964	0.058000	0.20735	0.847000	0.33407	0.997000	0.91878	0.643000	0.24750	0.503000	0.28060	0.533000	0.62120	GAC	IFIT5	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000152778		0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	HGNC	protein_coding	OTTHUMT00000049303.1	53	0.00	0	A	NM_012420		91177984	91177984	+1	no_errors	ENST00000371795	ensembl	human	known	69_37n	missense	37	40.62	26	SNP	1.000	G
IKBKE	9641	genome.wustl.edu	37	1	206650162	206650162	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:206650162C>T	ENST00000367120.3	+	7	1055	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	IKBKE_ENST00000537984.1_Missense_Mutation_p.R143W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGGTGGGCCACGGCGGAACAA	0.617																																						dbGAP											0													91.0	79.0	83.0					1																	206650162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.682C>T	1.37:g.206650162C>T	ENSP00000356087:p.Arg228Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R228W	ENST00000367120.3	37	c.682	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403002	0.42613	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.66815	-0.23;-0.23	5.13	3.2	0.36748	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	M	0.93420	3.415	0.47659	D	0.999482	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88804	0.3287	10	0.87932	D	0	1.583	15.0531	0.71891	0.1854:0.8146:0.0:0.0	.	143;228	Q3B754;Q14164	.;IKKE_HUMAN	W	228;143	ENSP00000356087:R228W;ENSP00000444529:R143W	ENSP00000356087:R228W	R	+	1	2	IKBKE	204716785	0.970000	0.33590	0.157000	0.22605	0.292000	0.27327	2.368000	0.44222	0.511000	0.28236	0.555000	0.69702	CGG	IKBKE	-	pfam_Prot_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000143466		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	20	0.00	0	C			206650162	206650162	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	missense	17	21.74	5	SNP	0.723	T
KANSL3	55683	genome.wustl.edu	37	2	97267392	97267392	+	Silent	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr2:97267392G>A	ENST00000431828.1	-	20	2680	c.2604C>T	c.(2602-2604)ccC>ccT	p.P868P	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Silent_p.P781P|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.P688P			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	894					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTGAGCTGGAGGGCAGCACCT	0.572																																						dbGAP											0													31.0	33.0	32.0					2																	97267392		1947	4151	6098	-	-	-	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2604C>T	2.37:g.97267392G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.P868	ENST00000431828.1	37	c.2604	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.572	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	16	0.00	0	G	NM_017991		97267392	97267392	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	silent	15	42.31	11	SNP	0.920	A
KCNJ8	3764	genome.wustl.edu	37	12	21919255	21919255	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr12:21919255C>T	ENST00000240662.2	-	3	1022	c.677G>A	c.(676-678)cGc>cAc	p.R226H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	226					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CACCTGGATGCGCACAGAGGC	0.493																																						dbGAP											0													145.0	132.0	137.0					12																	21919255		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.677G>A	12.37:g.21919255C>T	ENSP00000240662:p.Arg226His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.1	p.R226H	ENST00000240662.2	37	c.677	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153571	0.57259	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.92647	-3.08	5.11	5.11	0.69529	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.73372	2.23	0.58432	D	0.999992	B	0.32324	0.364	B	0.18561	0.022	D	0.90081	0.4170	10	0.54805	T	0.06	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	226	Q15842	IRK8_HUMAN	H	226	ENSP00000240662:R226H	ENSP00000240662:R226H	R	-	2	0	KCNJ8	21810522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.962000	0.56766	2.667000	0.90743	0.563000	0.77884	CGC	KCNJ8	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000121361		0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	34	0.00	0	C	NM_004982		21919255	21919255	-1	no_errors	ENST00000240662	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	1.000	T
KCNC2	3747	genome.wustl.edu	37	12	75441951	75441951	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr12:75441951C>T	ENST00000549446.1	-	4	2442	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	KCNC2_ENST00000298972.1_Missense_Mutation_p.D588N|KCNC2_ENST00000548513.1_Missense_Mutation_p.D588N|KCNC2_ENST00000550433.1_Missense_Mutation_p.D588N|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000341669.3_Missense_Mutation_p.D588N|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000393288.2_Missense_Mutation_p.D588N|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	588					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ATCCCTCCATCAGAAGCACAC	0.433																																						dbGAP											0													298.0	242.0	261.0					12																	75441951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1762G>A	12.37:g.75441951C>T	ENSP00000449253:p.Asp588Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.D588N	ENST00000549446.1	37	c.1762	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505152	0.85282	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000393288	D;D;D;D;D;D	0.98296	-4.57;-4.6;-4.85;-4.57;-4.6;-4.73	5.55	5.55	0.83447	.	0.381500	0.25299	N	0.031664	D	0.98648	0.9547	M	0.61703	1.905	0.50039	D	0.999843	D;D;P	0.76494	0.999;0.998;0.932	D;P;P	0.66979	0.948;0.889;0.726	D	0.99883	1.1117	10	0.72032	D	0.01	.	19.4922	0.95054	0.0:1.0:0.0:0.0	.	588;588;588	Q96PR1-2;Q96PR1;Q96PR1-3	.;KCNC2_HUMAN;.	N	588	ENSP00000448301:D588N;ENSP00000449941:D588N;ENSP00000449253:D588N;ENSP00000340121:D588N;ENSP00000298972:D588N;ENSP00000376966:D588N	ENSP00000298972:D588N	D	-	1	0	KCNC2	73728218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.604000	0.88044	0.585000	0.79938	GAT	KCNC2	-	NULL	ENSG00000166006		0.433	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	57	0.00	0	C	NM_153748		75441951	75441951	-1	no_errors	ENST00000549446	ensembl	human	known	69_37n	missense	11	59.26	16	SNP	1.000	T
KIAA0232	9778	genome.wustl.edu	37	4	6863899	6863899	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr4:6863899G>C	ENST00000307659.5	+	7	2245	c.1790G>C	c.(1789-1791)aGc>aCc	p.S597T	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S597T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	597							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGTTCATCCAGCTCCGGTGAT	0.527																																						dbGAP											0													154.0	144.0	147.0					4																	6863899		1964	4170	6134	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1790G>C	4.37:g.6863899G>C	ENSP00000303928:p.Ser597Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.S597T	ENST00000307659.5	37	c.1790	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132445	0.37630	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.7	5.7	0.88788	.	0.143296	0.64402	D	0.000004	T	0.62417	0.2426	M	0.64997	1.995	0.58432	D	0.999994	B	0.33022	0.394	B	0.30782	0.12	T	0.61192	-0.7112	9	0.39692	T	0.17	-14.9718	19.8218	0.96599	0.0:0.0:1.0:0.0	.	597	Q92628	K0232_HUMAN	T	597	.	ENSP00000303928:S597T	S	+	2	0	KIAA0232	6914800	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.837000	0.69381	2.678000	0.91216	0.655000	0.94253	AGC	KIAA0232	-	NULL	ENSG00000170871		0.527	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	67	0.00	0	G	NM_014743		6863899	6863899	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	5	70.59	12	SNP	1.000	C
KIAA1683	80726	genome.wustl.edu	37	19	18377840	18377840	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr19:18377840C>A	ENST00000600328.3	-	3	703	c.510G>T	c.(508-510)caG>caT	p.Q170H	KIAA1683_ENST00000600359.3_Missense_Mutation_p.Q124H|KIAA1683_ENST00000392413.4_Missense_Mutation_p.Q170H			Q9H0B3	K1683_HUMAN	KIAA1683	170						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGAAGCGCACCTGCTGTGGGG	0.572																																						dbGAP											0													54.0	53.0	53.0					19																	18377840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.510G>T	19.37:g.18377840C>A	ENSP00000470780:p.Gln170His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q170H	ENST00000600328.3	37	c.510	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168699	0.78339	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.07327	3.24;3.25;3.2	3.23	3.23	0.37069	.	0.000000	0.32719	N	0.005739	T	0.16214	0.0390	L	0.34521	1.04	0.27735	N	0.944686	D;D	0.76494	0.999;0.999	D;P	0.77557	0.99;0.907	T	0.00875	-1.1531	10	0.66056	D	0.02	-12.1082	10.112	0.42568	0.0:1.0:0.0:0.0	.	170;170	E9PDE0;Q9H0B3	.;K1683_HUMAN	H	170;170;124;169;170	ENSP00000376213:Q170H;ENSP00000352774:Q170H;ENSP00000404501:Q124H	ENSP00000351198:Q169H	Q	-	3	2	KIAA1683	18238840	0.999000	0.42202	0.998000	0.56505	0.488000	0.33401	1.049000	0.30392	1.821000	0.53095	0.313000	0.20887	CAG	KIAA1683	-	NULL	ENSG00000130518		0.572	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	11	0.00	0	C			18377840	18377840	-1	no_errors	ENST00000392413	ensembl	human	known	69_37n	missense	19	42.42	14	SNP	0.997	A
KRT14	3861	genome.wustl.edu	37	17	39740663	39740663	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr17:39740663T>C	ENST00000167586.6	-	3	697	c.611A>G	c.(610-612)tAt>tGt	p.Y204C		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	204	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CTCTGTCTCATACCTGGAATG	0.562																																						dbGAP											0													59.0	60.0	59.0					17																	39740663		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.611A>G	17.37:g.39740663T>C	ENSP00000167586:p.Tyr204Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Y204C	ENST00000167586.6	37	c.611	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271955	0.59649	.	.	ENSG00000186847	ENST00000167586	D	0.90069	-2.61	5.77	2.18	0.27775	Filament (1);	0.428524	0.19915	N	0.103220	D	0.91553	0.7332	M	0.86420	2.815	0.34677	D	0.72428	B	0.29232	0.238	B	0.40009	0.316	D	0.91827	0.5472	10	0.87932	D	0	.	12.3657	0.55226	0.5305:0.0:0.0:0.4695	.	204	P02533	K1C14_HUMAN	C	204	ENSP00000167586:Y204C	ENSP00000167586:Y204C	Y	-	2	0	KRT14	36994189	0.003000	0.15002	0.979000	0.43373	0.989000	0.77384	-0.050000	0.11904	0.124000	0.18369	0.533000	0.62120	TAT	KRT14	-	pfam_F,prints_Keratin_I	ENSG00000186847		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	27	0.00	0	T	NM_000526		39740663	39740663	-1	no_errors	ENST00000167586	ensembl	human	known	69_37n	missense	9	68.97	20	SNP	0.939	C
LAMA3	3909	genome.wustl.edu	37	18	21481288	21481288	+	Splice_Site	SNP	G	G	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr18:21481288G>T	ENST00000313654.9	+	48	6442		c.e48+1		LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGCCATTCAGGTGAGTTCACA	0.483																																						dbGAP											0													42.0	41.0	42.0					18																	21481288		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6201+1G>T	18.37:g.21481288G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	-	e48+1	ENST00000313654.9	37	c.6201+1	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824797	0.71143	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8686	0.96842	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19735286	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.679000	0.74513	2.768000	0.95171	0.655000	0.94253	.	LAMA3	-	-	ENSG00000053747		0.483	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	30	0.00	0	G	NM_000227, NM_198129	Intron	21481288	21481288	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	splice_site	18	41.94	13	SNP	1.000	T
MAGEC3	139081	genome.wustl.edu	37	X	140969432	140969432	+	Silent	SNP	A	A	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:140969432A>G	ENST00000298296.1	+	4	759	c.759A>G	c.(757-759)gtA>gtG	p.V253V	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	253	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTTTGTAAACACATTAG	0.468																																						dbGAP											0													140.0	129.0	133.0					X																	140969432		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.759A>G	X.37:g.140969432A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V253	ENST00000298296.1	37	c.759	CCDS14676.1	X																																																																																			MAGEC3	-	pfam_MAGE,pfscan_MAGE	ENSG00000165509		0.468	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	66	0.00	0	A	NM_138702		140969432	140969432	+1	no_errors	ENST00000298296	ensembl	human	known	69_37n	silent	92	26.19	33	SNP	0.000	G
MAMLD1	10046	genome.wustl.edu	37	X	149639246	149639246	+	Silent	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:149639246C>A	ENST00000370401.2	+	4	1711	c.1401C>A	c.(1399-1401)ggC>ggA	p.G467G	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.G467G|MAMLD1_ENST00000432680.2_Silent_p.G442G|MAMLD1_ENST00000426613.2_Silent_p.G442G			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	467					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCAGGCTTGCCACAGC	0.592																																						dbGAP											0													72.0	72.0	72.0					X																	149639246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1401C>A	X.37:g.149639246C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCQ4|B4DG93|B9EGA5	Silent	SNP	NULL	p.G442	ENST00000370401.2	37	c.1326	CCDS14693.2	X																																																																																			MAMLD1	-	NULL	ENSG00000013619		0.592	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	20	0.00	0	C	NM_005491		149639246	149639246	+1	no_errors	ENST00000432680	ensembl	human	known	69_37n	silent	14	53.12	17	SNP	0.027	A
MAN2A1	4124	genome.wustl.edu	37	5	109200756	109200756	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr5:109200756A>G	ENST00000261483.4	+	21	4243	c.3191A>G	c.(3190-3192)aAt>aGt	p.N1064S	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1064					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GGGCACTCCAATGAGGCAGCC	0.473																																						dbGAP											0													145.0	130.0	135.0					5																	109200756		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3191A>G	5.37:g.109200756A>G	ENSP00000261483:p.Asn1064Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16767	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.N1064S	ENST00000261483.4	37	c.3191	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	A	9.571	1.121103	0.20877	.	.	ENSG00000112893	ENST00000261483	D	0.82619	-1.63	5.53	3.17	0.36434	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.739713	0.13367	N	0.393195	T	0.70386	0.3218	N	0.24115	0.695	0.20074	N	0.999938	B	0.06786	0.001	B	0.15052	0.012	T	0.54990	-0.8210	9	.	.	.	-10.5441	9.5768	0.39463	0.8582:0.0:0.1418:0.0	.	1064	Q16706	MA2A1_HUMAN	S	1064	ENSP00000261483:N1064S	.	N	+	2	0	MAN2A1	109228655	0.998000	0.40836	0.041000	0.18516	0.085000	0.17905	1.975000	0.40569	1.041000	0.40125	0.528000	0.53228	AAT	MAN2A1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000112893		0.473	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	77	0.00	0	A			109200756	109200756	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	missense	9	62.50	15	SNP	0.602	G
MAPKBP1	23005	genome.wustl.edu	37	15	42113197	42113197	+	Silent	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr15:42113197G>C	ENST00000456763.2	+	24	2863	c.2667G>C	c.(2665-2667)tcG>tcC	p.S889S	MAPKBP1_ENST00000457542.2_Silent_p.S883S|MAPKBP1_ENST00000514566.1_Silent_p.S883S|MAPKBP1_ENST00000260357.7_Silent_p.S722S|MAPKBP1_ENST00000221214.6_Silent_p.S766S	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	889										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCAGGACTCGCTGGCCATCA	0.597																																						dbGAP											0													61.0	56.0	58.0					15																	42113197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2667G>C	15.37:g.42113197G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S889	ENST00000456763.2	37	c.2667	CCDS45239.1	15																																																																																			MAPKBP1	-	NULL	ENSG00000137802		0.597	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	9	0.00	0	G	NM_014994		42113197	42113197	+1	no_errors	ENST00000456763	ensembl	human	known	69_37n	silent	2	71.43	5	SNP	0.006	C
MET	4233	genome.wustl.edu	37	7	116340214	116340216	+	In_Frame_Del	DEL	GAT	GAT	-	rs201274041		TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr7:116340214_116340216delGAT	ENST00000318493.6	+	2	1263_1265	c.1076_1078delGAT	c.(1075-1080)cgatct>cct	p.359_360RS>P	MET_ENST00000397752.3_In_Frame_Del_p.359_360RS>P|MET_ENST00000436117.2_In_Frame_Del_p.359_360RS>P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCAATGGATCGATCTGCCATGTG	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1076_1078delGAT	7.37:g.116340214_116340216delGAT	ENSP00000317272:p.Arg359_Ser360delinsPro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	In_Frame_Del	DEL	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.RS359in_frame_delP	ENST00000318493.6	37	c.1076_1078	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000105976		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	25	0.00	0	GAT			116340214	116340216	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	in_frame_del	16	27.27	6	DEL	1.000:1.000:1.000	-
MET	4233	genome.wustl.edu	37	7	116340219	116340221	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr7:116340219_116340221delGCC	ENST00000318493.6	+	2	1268_1270	c.1081_1083delGCC	c.(1081-1083)gccdel	p.A361del	MET_ENST00000397752.3_In_Frame_Del_p.A361del|MET_ENST00000436117.2_In_Frame_Del_p.A361del			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGATCGATCTGCCATGTGTGCAT	0.448			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1081_1083delGCC	7.37:g.116340219_116340221delGCC	ENSP00000317272:p.Ala361del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	In_Frame_Del	DEL	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.A361in_frame_del	ENST00000318493.6	37	c.1081_1083	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000105976		0.448	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	25	0.00	0	GCC			116340219	116340221	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	in_frame_del	16	25.00	6	DEL	1.000:1.000:0.022	-
MET	4233	genome.wustl.edu	37	7	116340222	116340223	+	Frame_Shift_Ins	INS	-	-	T	rs77523018	byFrequency	TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr7:116340222_116340223insT	ENST00000318493.6	+	2	1271_1272	c.1084_1085insT	c.(1084-1086)atgfs	p.M362fs	MET_ENST00000397752.3_Frame_Shift_Ins_p.M362fs|MET_ENST00000436117.2_Frame_Shift_Ins_p.M362fs			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCGATCTGCCATGTGTGCATTC	0.446			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1085dupT	7.37:g.116340223_116340223dupT	ENSP00000317272:p.Met362fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.M362fs	ENST00000318493.6	37	c.1084_1085	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000105976		0.446	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	25	0.00	0	-			116340222	116340223	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	frame_shift_ins	17	29.17	7	INS	0.551:1.000	T
MMS19	64210	genome.wustl.edu	37	10	99220677	99220677	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr10:99220677G>A	ENST00000438925.2	-	24	2734	c.2399C>T	c.(2398-2400)aCt>aTt	p.T800I	MMS19_ENST00000370782.2_Missense_Mutation_p.T800I|MMS19_ENST00000355839.6_Missense_Mutation_p.T757I|MMS19_ENST00000327238.10_Missense_Mutation_p.T702I|MMS19_ENST00000327277.7_3'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	800					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GAGAAGAAGAGTGAAGGCCTG	0.498								Direct reversal of damage																														dbGAP											0													37.0	36.0	36.0					10																	99220677		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2399C>T	10.37:g.99220677G>A	ENSP00000412698:p.Thr800Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.T800I	ENST00000438925.2	37	c.2399	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.015827|4.015827	0.75161|0.75161	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000434538|ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53610|0.53610	0.1807|0.1807	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D	.|0.76494	.|0.959;0.998;0.999;0.27;0.998	.|P;P;D;B;P	.|0.68192	.|0.625;0.873;0.956;0.131;0.904	T|T	0.42732|0.42732	-0.9434|-0.9434	5|10	.|0.36615	.|T	.|0.2	.|.	19.331|19.331	0.94288|0.94288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|821;702;757;800;757	.|B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.|.;.;.;MMS19_HUMAN;.	F|I	375|800;800;702;779;757	.|ENSP00000412698:T800I;ENSP00000359818:T800I;ENSP00000320059:T702I;ENSP00000348097:T757I	.|ENSP00000320059:T702I	L|T	-|-	1|2	0|0	MMS19|MMS19	99210667|99210667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	4.810000|4.810000	0.62598|0.62598	2.668000|2.668000	0.90789|0.90789	0.484000|0.484000	0.47621|0.47621	CTC|ACT	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	20	0.00	0	G			99220677	99220677	-1	no_errors	ENST00000370782	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	1.000	A
NF2	4771	genome.wustl.edu	37	22	30057312	30057312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr22:30057312C>A	ENST00000338641.4	+	8	1235	c.794C>A	c.(793-795)tCg>tAg	p.S265*	NF2_ENST00000361166.4_Nonsense_Mutation_p.S265*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S265*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S224*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S182*|NF2_ENST00000403435.1_Nonsense_Mutation_p.S265*|NF2_ENST00000347330.5_Nonsense_Mutation_p.S106*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S223*|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Nonsense_Mutation_p.S182*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S265*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	265	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.D245fs*31(1)|p.N226_E270del(1)|p.K253_S265del(1)|p.S265fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CGAAACATCTCGTACAGTGAC	0.557			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													dbGAP	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	7	Unknown(3)|Deletion - In frame(2)|Complex - frameshift(1)|Deletion - Frameshift(1)	soft_tissue(4)|large_intestine(1)|stomach(1)|central_nervous_system(1)											125.0	116.0	119.0					22																	30057312		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.794C>A	22.37:g.30057312C>A	ENSP00000344666:p.Ser265*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.S265*	ENST00000338641.4	37	c.794	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	C	40	8.379110	0.98784	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	.	.	.	X	106;265;265;224;265;265;182;182;265;223;265	.	.	S	+	2	0	NF2	28387312	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	5.916000	0.69981	2.747000	0.94245	0.650000	0.86243	TCG	NF2	-	pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000186575		0.557	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	48	0.00	0	C	NM_000268		30057312	30057312	+1	no_errors	ENST00000338641	ensembl	human	known	69_37n	nonsense	12	61.29	19	SNP	1.000	A
NKTR	4820	genome.wustl.edu	37	3	42678448	42678448	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr3:42678448C>A	ENST00000232978.8	+	13	1440	c.1252C>A	c.(1252-1254)Ctt>Att	p.L418I	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	418					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTATTCAGACCTTAGTACAGC	0.398																																						dbGAP											0													78.0	79.0	79.0					3																	42678448		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1252C>A	3.37:g.42678448C>A	ENSP00000232978:p.Leu418Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.L418I	ENST00000232978.8	37	c.1252	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462098	0.26248	.	.	ENSG00000114857	ENST00000232978	T	0.12361	2.69	5.72	-0.834	0.10779	.	0.707453	0.13278	N	0.399984	T	0.08358	0.0208	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.35076	-0.9803	10	0.28530	T	0.3	-0.0799	6.0744	0.19907	0.281:0.2997:0.3602:0.0591	.	118;418	Q6M1B8;P30414	.;NKTR_HUMAN	I	418	ENSP00000232978:L418I	ENSP00000232978:L418I	L	+	1	0	NKTR	42653452	0.000000	0.05858	0.016000	0.15963	0.997000	0.91878	0.536000	0.23129	-0.495000	0.06659	0.655000	0.94253	CTT	NKTR	-	NULL	ENSG00000114857		0.398	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	52	0.00	0	C	NM_005385		42678448	42678448	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	missense	55	29.49	23	SNP	0.000	A
NOX3	50508	genome.wustl.edu	37	6	155750119	155750119	+	Silent	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr6:155750119C>T	ENST00000159060.2	-	9	1056	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	318	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACTGCCCTGGCGCCATTTTAA	0.547																																						dbGAP											0													88.0	87.0	87.0					6																	155750119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.954G>A	6.37:g.155750119C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.A318	ENST00000159060.2	37	c.954	CCDS5250.1	6																																																																																			NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000074771		0.547	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	19	0.00	0	C			155750119	155750119	-1	no_errors	ENST00000159060	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	0.147	T
ODF1	4956	genome.wustl.edu	37	8	103572897	103572898	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr8:103572897_103572898delTG	ENST00000285402.3	+	2	694_695	c.538_539delTG	c.(538-540)tgtfs	p.C180fs	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTTGCCGCCCTGTGTGGATGAG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.538_539delTG	8.37:g.103572901_103572902delTG	ENSP00000285402:p.Cys180fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SX72	Frame_Shift_Del	DEL	pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20	p.V181fs	ENST00000285402.3	37	c.538_539	CCDS6293.1	8																																																																																			ODF1	-	pfam_Hsp20,superfamily_HSP20-like_chaperone,pfscan_Hsp20	ENSG00000155087		0.525	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	34	0.00	0	TG			103572897	103572898	+1	no_errors	ENST00000285402	ensembl	human	known	69_37n	frame_shift_del	38	25.00	13	DEL	0.120:0.137	-
OR2D2	120776	genome.wustl.edu	37	11	6913043	6913044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr11:6913043_6913044insT	ENST00000299459.2	-	1	786_787	c.688_689insA	c.(688-690)tcafs	p.S230fs		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCCCACAGTTGACTTCATCTTG	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.688_689insA	11.37:g.6913043_6913044insT	ENSP00000299459:p.Ser230fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt	p.S230fs	ENST00000299459.2	37	c.689_688	CCDS31416.1	11																																																																																			OR2D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000166368		0.436	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	HGNC	protein_coding	OTTHUMT00000385986.1	49	0.00	0	-	NM_003700		6913043	6913044	-1	no_errors	ENST00000299459	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.833:0.817	T
OR8D1	283159	genome.wustl.edu	37	11	124179975	124179976	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr11:124179975_124179976insAT	ENST00000357821.2	-	1	757_758	c.687_688insAT	c.(685-690)cgctccfs	p.S230fs		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCCTCTGAGGAGCGGATGTGAA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.687_688insAT	11.37:g.124179975_124179976insAT	ENSP00000350474:p.Ser230fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL4|Q6IEW1|Q8NGH0	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S229fs	ENST00000357821.2	37	c.688_687	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196341		0.500	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	50	0.00	0	-	NM_001002917		124179975	124179976	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.020:0.000	AT
PASD1	139135	genome.wustl.edu	37	X	150844587	150844587	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:150844587A>G	ENST00000370357.4	+	16	2539	c.2294A>G	c.(2293-2295)gAg>gGg	p.E765G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	765						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCTGCAGAGCAACGTGAC	0.572																																						dbGAP											0													118.0	105.0	109.0					X																	150844587		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2294A>G	X.37:g.150844587A>G	ENSP00000359382:p.Glu765Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.E765G	ENST00000370357.4	37	c.2294	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535314	0.45176	.	.	ENSG00000166049	ENST00000370357	T	0.37915	1.17	2.39	2.39	0.29439	.	.	.	.	.	T	0.39759	0.1090	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.10870	-1.0611	9	0.87932	D	0	.	6.029	0.19669	1.0:0.0:0.0:0.0	.	765	Q8IV76	PASD1_HUMAN	G	765	ENSP00000359382:E765G	ENSP00000359382:E765G	E	+	2	0	PASD1	150595243	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.377000	0.07456	1.211000	0.43351	0.356000	0.21956	GAG	PASD1	-	NULL	ENSG00000166049		0.572	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	37	0.00	0	A	NM_173493		150844587	150844587	+1	no_errors	ENST00000370357	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	0.002	G
PDIA5	10954	genome.wustl.edu	37	3	122811242	122811242	+	Silent	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr3:122811242G>A	ENST00000316218.7	+	3	305	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	70					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGTCCACAGTGGCCCAGGCGG	0.532																																						dbGAP											0													121.0	111.0	114.0					3																	122811242		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.210G>A	3.37:g.122811242G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN95|Q9BV43	Silent	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.V70	ENST00000316218.7	37	c.210	CCDS3020.1	3																																																																																			PDIA5	-	superfamily_Thioredoxin-like_fold	ENSG00000065485		0.532	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	39	0.00	0	G	NM_006810		122811242	122811242	+1	no_errors	ENST00000316218	ensembl	human	known	69_37n	silent	12	71.43	30	SNP	1.000	A
PRKCI	5584	genome.wustl.edu	37	3	170015134	170015134	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr3:170015134G>C	ENST00000295797.4	+	16	1845	c.1540G>C	c.(1540-1542)Gct>Cct	p.A514P		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	514	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AACAGGATTTGCTGATATTCA	0.363																																						dbGAP											0													117.0	97.0	104.0					3																	170015134		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1540G>C	3.37:g.170015134G>C	ENSP00000295797:p.Ala514Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.A514P	ENST00000295797.4	37	c.1540	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343725	0.82022	.	.	ENSG00000163558	ENST00000295797	T	0.60299	0.2	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045372	0.85682	D	0.000000	T	0.56529	0.1991	L	0.41027	1.25	0.80722	D	1	P	0.52692	0.955	P	0.46076	0.503	T	0.53187	-0.8474	9	.	.	.	.	19.7828	0.96424	0.0:0.0:1.0:0.0	.	514	P41743	KPCI_HUMAN	P	514	ENSP00000295797:A514P	.	A	+	1	0	PRKCI	171497828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.343000	0.65976	2.747000	0.94245	0.650000	0.86243	GCT	PRKCI	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom	ENSG00000163558		0.363	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	71	0.00	0	G	NM_002740		170015134	170015134	+1	no_errors	ENST00000295797	ensembl	human	known	69_37n	missense	27	73.79	76	SNP	1.000	C
PROX2	283571	genome.wustl.edu	37	14	75329523	75329523	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr14:75329523G>T	ENST00000445876.1	-	1	1014	c.1015C>A	c.(1015-1017)Cac>Aac	p.H339N	PROX2_ENST00000556489.2_Missense_Mutation_p.H339N|PROX2_ENST00000556084.2_Intron			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	339					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCCTGGATGTGGGAAGGTGCA	0.522																																						dbGAP											0													58.0	61.0	60.0					14																	75329523		1881	4128	6009	-	-	-	SO:0001583	missense	0				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1015C>A	14.37:g.75329523G>T	ENSP00000405932:p.His339Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.H339N	ENST00000445876.1	37	c.1015	CCDS45136.2	14	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194636	0.22037	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.48522	0.82;0.81	5.81	2.63	0.31362	.	0.827192	0.10432	N	0.675429	T	0.30978	0.0782	L	0.27053	0.805	0.09310	N	1	P	0.37276	0.589	B	0.33454	0.164	T	0.08638	-1.0712	10	0.23302	T	0.38	-0.1345	8.7716	0.34735	0.2603:0.0:0.7397:0.0	.	339	G3V3G0	.	N	339	ENSP00000451223:H339N;ENSP00000405932:H339N	ENSP00000374315:H339N	H	-	1	0	PROX2	74399276	1.000000	0.71417	0.005000	0.12908	0.564000	0.35744	3.483000	0.53194	0.240000	0.21263	0.555000	0.69702	CAC	PROX2	-	NULL	ENSG00000119608		0.522	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		45	0.00	0	G			75329523	75329523	-1	no_errors	ENST00000445876	ensembl	human	known	69_37n	missense	14	63.41	26	SNP	0.070	T
PRUNE2	158471	genome.wustl.edu	37	9	79320287	79320287	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr9:79320287G>C	ENST00000376718.3	-	8	7026	c.6903C>G	c.(6901-6903)caC>caG	p.H2301Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.H1942Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2301					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGCTGAAACTGTGGTCAAAGG	0.478																																						dbGAP											0													77.0	71.0	72.0					9																	79320287		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6903C>G	9.37:g.79320287G>C	ENSP00000365908:p.His2301Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.H1942Q	ENST00000376718.3	37	c.5826	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362875|3.362875	0.61403|0.61403	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55760|.	0.5;0.53|.	5.79|5.79	1.62|1.62	0.23740|0.23740	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.57858|0.57858	0.2082|0.2082	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.53947|0.53947	-0.8366|-0.8366	10|5	0.72032|.	D|.	0.01|.	-16.9625|-16.9625	5.2488|5.2488	0.15512|0.15512	0.3036:0.0:0.5578:0.1385|0.3036:0.0:0.5578:0.1385	.|.	2301|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|E	2301;1942;2300|1623	ENSP00000365908:H2301Q;ENSP00000397425:H1942Q|.	ENSP00000365908:H2301Q|.	H|Q	-|-	3|1	2|0	PRUNE2|PRUNE2	78510107|78510107	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.304000|0.304000	0.19228|0.19228	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	CAC|CAG	PRUNE2	-	NULL	ENSG00000106772		0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	24	0.00	0	G	NM_138818		79320287	79320287	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	0.998	C
Unknown	0	genome.wustl.edu	37	10	49313245	49313245	+	IGR	SNP	C	C	T	rs2270911	byFrequency	TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr10:49313245C>T								RNA5SP315 (64654 upstream) : RP11-13E1.5 (50122 downstream)																							GCAGCCTCCTCATCCTCACTG	0.488													C|||	2256	0.450479	0.5363	0.3285	5008	,	,		10884	0.7073		0.341	False		,,,				2504	0.2689					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															10.37:g.49313245C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E99K		37	c.295		10	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980355	0.34942	.	.	ENSG00000126542	ENST00000316733;ENST00000455582	.	.	.	2.99	-0.298	0.12814	.	.	.	.	.	T	0.22282	0.0537	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35773	-0.9775	4	0.13108	T	0.6	.	5.2137	0.15331	0.41:0.3891:0.2008:0.0	rs2270911;rs2270911	.	.	.	K	96;99	.	ENSP00000313973:E96K	E	-	1	0	PTPN20C	48983251	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.191000	0.17076	-0.051000	0.13334	0.194000	0.17425	GAG	PTPN20C	-	NULL	ENSG00000126542	0	0.488					PTPN20C	HGNC			29	0.00	0	C			49313245	49313245	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000455582	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.002	T
ROBO1	6091	genome.wustl.edu	37	3	78734951	78734951	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr3:78734951C>A	ENST00000464233.1	-	10	1400	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	ROBO1_ENST00000436010.2_Missense_Mutation_p.Q390H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q393H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q393H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	429	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATTTAAAGTCTGGCAGATGT	0.393																																						dbGAP											0													64.0	63.0	63.0					3																	78734951		1905	4107	6012	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1287G>T	3.37:g.78734951C>A	ENSP00000420321:p.Gln429His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q429H	ENST00000464233.1	37	c.1287	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050503	0.75960	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.42	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.103686	0.64402	D	0.000002	T	0.69788	0.3150	N	0.21282	0.65	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.68550	-0.5379	9	.	.	.	.	14.0318	0.64619	0.0:0.9275:0.0:0.0725	.	393;429;393;393;390	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	390;393;429;393;393;429	ENSP00000406043:Q390H;ENSP00000420321:Q429H;ENSP00000420637:Q393H;ENSP00000417992:Q393H	.	Q	-	3	2	ROBO1	78817641	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.037000	0.57311	1.420000	0.47138	0.563000	0.77884	CAG	ROBO1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000169855		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	48	0.00	0	C	NM_002941		78734951	78734951	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	32	52.24	35	SNP	1.000	A
PVRL3	25945	genome.wustl.edu	37	3	110852796	110852796	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr3:110852796G>A	ENST00000485303.1	+	6	1659	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	462					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TCAACAAGATGAGCTTGATTC	0.363																																						dbGAP											0													56.0	58.0	57.0					3																	110852796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1384G>A	3.37:g.110852796G>A	ENSP00000418070:p.Glu462Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E462K	ENST00000485303.1	37	c.1384	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811322	0.50527	.	.	ENSG00000177707	ENST00000485303	T	0.13657	2.57	5.8	5.8	0.92144	.	0.121317	0.56097	D	0.000025	T	0.22551	0.0544	L	0.48642	1.525	0.80722	D	1	D	0.62365	0.991	P	0.51266	0.664	T	0.00129	-1.2016	10	0.36615	T	0.2	.	17.5382	0.87840	0.0:0.0:1.0:0.0	.	462	Q9NQS3	PVRL3_HUMAN	K	462	ENSP00000418070:E462K	ENSP00000418070:E462K	E	+	1	0	PVRL3	112335486	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.551000	0.90678	2.734000	0.93682	0.460000	0.39030	GAG	PVRL3	-	NULL	ENSG00000177707		0.363	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	56	0.00	0	G	NM_015480		110852796	110852796	+1	no_errors	ENST00000485303	ensembl	human	known	69_37n	missense	23	50.00	23	SNP	1.000	A
RPGR	6103	genome.wustl.edu	37	X	38145271	38145272	+	Intron	INS	-	-	CCC			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:38145271_38145272insCCC	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_In_Frame_Ins_p.993_994insG|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ttcttccccttcctcctcttcc	0.609																																						dbGAP											0									,	22,3370		0,22,0,1474,400					,	-0.6	0.0			12	50,5822		2,31,15,2183,1425	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	2,53,15,3657,1825	A1A1,A1R,A1,RR,R		0.8515,0.6486,0.7772	,	,		72,9192				-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1074->GGG	X.37:g.38145271_38145272insCCC		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.994in_frame_insG	ENST00000339363.3	37	c.2981_2980		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.609	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		39	0.00	0	-	NM_000328		38145271	38145272	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	in_frame_ins	19	13.64	3	INS	0.060:0.135	CCC
SCFD2	152579	genome.wustl.edu	37	4	54231620	54231620	+	Silent	SNP	A	A	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr4:54231620A>T	ENST00000401642.3	-	1	622	c.489T>A	c.(487-489)gtT>gtA	p.V163V	SCFD2_ENST00000388940.4_Silent_p.V163V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	163					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGGGGAGCAACAGGGGCAA	0.562																																						dbGAP											0													86.0	73.0	77.0					4																	54231620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.489T>A	4.37:g.54231620A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.V163	ENST00000401642.3	37	c.489	CCDS33984.1	4																																																																																			SCFD2	-	NULL	ENSG00000184178		0.562	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	18	0.00	0	A	NM_152540		54231620	54231620	-1	no_errors	ENST00000401642	ensembl	human	known	69_37n	silent	45	28.12	18	SNP	0.002	T
SCN1A	6323	genome.wustl.edu	37	2	166848260	166848260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr2:166848260delG	ENST00000303395.4	-	26	5524	c.5525delC	c.(5524-5526)ccafs	p.P1842fs	SCN1A_ENST00000423058.2_Frame_Shift_Del_p.P1842fs|SCN1A_ENST00000409050.1_Frame_Shift_Del_p.P1814fs|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Frame_Shift_Del_p.P1831fs			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1842					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTGGTTGTGGCAGATTGAG	0.448																																						dbGAP											0													94.0	96.0	95.0					2																	166848260		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5525delC	2.37:g.166848260delG	ENSP00000303540:p.Pro1842fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.P1842fs	ENST00000303395.4	37	c.5525	CCDS54413.1	2																																																																																			SCN1A	-	NULL	ENSG00000144285		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	66	0.00	0	G	NM_006920		166848260	166848260	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
SLC23A1	9963	genome.wustl.edu	37	5	138718947	138718947	+	5'UTR	DEL	G	G	-			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr5:138718947delG	ENST00000348729.3	-	0	42				SLC23A1_ENST00000353963.3_5'UTR|SLC23A1_ENST00000503919.1_5'UTR	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1						brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCTCATCTTTGGGGCACAGGT	0.617																																						dbGAP											0													34.0	33.0	34.0					5																	138718947		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.-5C>-	5.37:g.138718947delG		Somatic		WXS	Illumina GAIIx	Phase_IV	O95191|Q8WWB6|Q9UGH4|Q9UI39	Frame_Shift_Del	DEL	pfam_Xant/urac/vitC	p.P73fs	ENST00000348729.3	37	c.218	CCDS4212.1	5																																																																																			SLC23A1	-	NULL	ENSG00000170482		0.617	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	SLC23A1	HGNC	protein_coding	OTTHUMT00000374185.1	9	0.00	0	G	NM_152685		138718947	138718947	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000508270	ensembl	human	putative	69_37n	frame_shift_del	4	33.33	2	DEL	0.076	-
SLC7A3	84889	genome.wustl.edu	37	X	70149842	70149842	+	Silent	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:70149842C>T	ENST00000374299.3	-	2	150	c.6G>A	c.(4-6)ccG>ccA	p.P2P	SLC7A3_ENST00000298085.4_Silent_p.P2P			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	2					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGCTTGCCACGGCATCCTAG	0.493																																						dbGAP											0													63.0	58.0	60.0					X																	70149842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.6G>A	X.37:g.70149842C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.P2	ENST00000374299.3	37	c.6	CCDS14404.1	X																																																																																			SLC7A3	-	tigrfam_Cat_AA_permease	ENSG00000165349		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	9	0.00	0	C	NM_032803		70149842	70149842	-1	no_errors	ENST00000298085	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	0.801	T
SPEF2	79925	genome.wustl.edu	37	5	35727923	35727923	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr5:35727923G>C	ENST00000356031.3	+	21	3215	c.3061G>C	c.(3061-3063)Gag>Cag	p.E1021Q	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.E1016Q	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1021					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAGTTCCTGAGGTATGGCC	0.438																																						dbGAP											0													105.0	106.0	106.0					5																	35727923		1924	4130	6054	-	-	-	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3061G>C	5.37:g.35727923G>C	ENSP00000348314:p.Glu1021Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E1021Q	ENST00000356031.3	37	c.3061	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835590	0.50951	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06068	3.36;3.35	5.3	4.38	0.52667	.	0.385393	0.26991	N	0.021471	T	0.13670	0.0331	L	0.43701	1.375	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.02975	-1.1087	10	0.25106	T	0.35	.	7.9982	0.30280	0.089:0.1635:0.7475:0.0	.	1016;1021	Q9C093-2;Q9C093	.;SPEF2_HUMAN	Q	1021;1016	ENSP00000348314:E1021Q;ENSP00000412125:E1016Q	ENSP00000348314:E1021Q	E	+	1	0	SPEF2	35763680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.541000	0.45735	2.641000	0.89580	0.650000	0.86243	GAG	SPEF2	-	NULL	ENSG00000152582		0.438	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	43	0.00	0	G	NM_144722		35727923	35727923	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	missense	29	53.97	34	SNP	1.000	C
SSBP3	23648	genome.wustl.edu	37	1	54722839	54722839	+	Silent	SNP	G	G	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:54722839G>A	ENST00000371320.3	-	7	878	c.468C>T	c.(466-468)taC>taT	p.Y156Y	SSBP3_ENST00000417664.2_Silent_p.Y46Y|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000371319.3_Silent_p.Y129Y|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	156	Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCGCCTGCGTATCGCGGTG	0.522																																						dbGAP											0													82.0	62.0	69.0					1																	54722839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.468C>T	1.37:g.54722839G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Silent	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.Y156	ENST00000371320.3	37	c.468	CCDS591.1	1																																																																																			SSBP3	-	pfam_SSDP_ss-bd	ENSG00000157216		0.522	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1	19	0.00	0	G	NM_018070		54722839	54722839	-1	no_errors	ENST00000371320	ensembl	human	known	69_37n	silent	28	33.33	14	SNP	0.983	A
TLN1	7094	genome.wustl.edu	37	9	35711758	35711758	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr9:35711758G>C	ENST00000314888.9	-	29	4066	c.3713C>G	c.(3712-3714)gCt>gGt	p.A1238G	TLN1_ENST00000540444.1_Missense_Mutation_p.A1238G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1238					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCTCTGAGCTTCTTGAAA	0.572																																						dbGAP											0													64.0	68.0	67.0					9																	35711758		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3713C>G	9.37:g.35711758G>C	ENSP00000316029:p.Ala1238Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.A1238G	ENST00000314888.9	37	c.3713	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949458	0.73787	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.29397	1.57;1.57	5.82	5.82	0.92795	Vinculin-binding site-containing domain (1);	0.111298	0.64402	D	0.000009	T	0.46983	0.1421	M	0.72118	2.19	0.58432	D	0.999999	P	0.34699	0.464	P	0.45138	0.471	T	0.19386	-1.0307	10	0.27082	T	0.32	-9.4025	20.0953	0.97838	0.0:0.0:1.0:0.0	.	1238	Q9Y490	TLN1_HUMAN	G	1238	ENSP00000316029:A1238G;ENSP00000442981:A1238G	ENSP00000316029:A1238G	A	-	2	0	TLN1	35701758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.785000	0.85724	2.767000	0.95098	0.655000	0.94253	GCT	TLN1	-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin	ENSG00000137076		0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	15	0.00	0	G	NM_006289		35711758	35711758	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	missense	4	71.43	10	SNP	1.000	C
TPR	7175	genome.wustl.edu	37	1	186321122	186321122	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:186321122G>T	ENST00000367478.4	-	19	2751	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	819					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTGTTTGCAGATTAGTTAGC	0.308			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													143.0	132.0	135.0					1																	186321122		1806	4076	5882	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2455C>A	1.37:g.186321122G>T	ENSP00000356448:p.Leu819Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L819M	ENST00000367478.4	37	c.2455	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480513	0.63849	.	.	ENSG00000047410	ENST00000367478	T	0.32515	1.45	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.63843	1.955	0.52501	D	0.999958	D	0.76494	0.999	D	0.85130	0.997	T	0.45789	-0.9237	10	0.49607	T	0.09	.	10.4135	0.44307	0.1465:0.0:0.8535:0.0	.	819	P12270	TPR_HUMAN	M	819	ENSP00000356448:L819M	ENSP00000356448:L819M	L	-	1	2	TPR	184587745	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.069000	0.71209	2.711000	0.92665	0.563000	0.77884	CTG	TPR	-	NULL	ENSG00000047410		0.308	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	257	0.00	0	G	NM_003292		186321122	186321122	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	270	33.58	137	SNP	1.000	T
TRPM6	140803	genome.wustl.edu	37	9	77435320	77435320	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr9:77435320T>G	ENST00000360774.1	-	9	1271	c.1034A>C	c.(1033-1035)gAg>gCg	p.E345A	TRPM6_ENST00000361255.3_Missense_Mutation_p.E340A|TRPM6_ENST00000449912.2_Missense_Mutation_p.E340A|TRPM6_ENST00000451710.3_Missense_Mutation_p.E345A|TRPM6_ENST00000376871.3_Missense_Mutation_p.E345A|TRPM6_ENST00000376864.4_Missense_Mutation_p.E345A|TRPM6_ENST00000376872.3_Missense_Mutation_p.E345A|TRPM6_ENST00000483186.1_5'UTR	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	345					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATGATCTCCTCTTTCACCTG	0.443																																						dbGAP											0													117.0	110.0	112.0					9																	77435320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1034A>C	9.37:g.77435320T>G	ENSP00000354006:p.Glu345Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E345A	ENST00000360774.1	37	c.1034	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345144	0.24426	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;0.21;0.21;-0.37;-0.37;-0.37	5.37	5.37	0.77165	.	0.144593	0.64402	D	0.000011	T	0.60483	0.2272	L	0.39898	1.24	0.50467	D	0.999871	B;B;B;B	0.19200	0.005;0.025;0.034;0.006	B;B;B;B	0.20184	0.007;0.028;0.016;0.015	T	0.59300	-0.7480	10	0.62326	D	0.03	.	15.382	0.74664	0.0:0.0:0.0:1.0	.	345;345;345;340	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	A	345;345;345;345;340;340;345;8;8	ENSP00000354006:E345A;ENSP00000407341:E345A;ENSP00000366068:E345A;ENSP00000366067:E345A;ENSP00000396672:E340A;ENSP00000354962:E340A;ENSP00000366060:E345A	ENSP00000309693:E8A	E	-	2	0	TRPM6	76625140	0.997000	0.39634	0.990000	0.47175	0.040000	0.13550	3.153000	0.50685	2.024000	0.59613	0.533000	0.62120	GAG	TRPM6	-	NULL	ENSG00000119121		0.443	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	75	0.00	0	T	NM_017662		77435320	77435320	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	69	32.35	33	SNP	0.997	G
USH2A	7399	genome.wustl.edu	37	1	215953193	215953193	+	Missense_Mutation	SNP	G	G	A	rs185823130	byFrequency	TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr1:215953193G>A	ENST00000307340.3	-	55	11317	c.10931C>T	c.(10930-10932)aCg>aTg	p.T3644M	USH2A_ENST00000366943.2_Missense_Mutation_p.T3644M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3644	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGTGACCGTATGCTGTCT	0.473										HNSCC(13;0.011)			G|||	3	0.000599042	0.0	0.0	5008	,	,		14853	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													150.0	126.0	134.0					1																	215953193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10931C>T	1.37:g.215953193G>A	ENSP00000305941:p.Thr3644Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T3644M	ENST00000307340.3	37	c.10931	CCDS31025.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.88	3.245046	0.59103	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61274	0.12;0.12	5.9	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000296	T	0.62612	0.2442	M	0.84326	2.69	0.40241	D	0.977964	D	0.54397	0.966	B	0.43123	0.409	T	0.70608	-0.4825	10	0.49607	T	0.09	.	14.4791	0.67567	0.07:0.0:0.93:0.0	.	3644	O75445	USH2A_HUMAN	M	3644	ENSP00000305941:T3644M;ENSP00000355910:T3644M	ENSP00000305941:T3644M	T	-	2	0	USH2A	214019816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.104000	0.50306	2.790000	0.95986	0.650000	0.86243	ACG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	64	0.00	0	G	NM_007123		215953193	215953193	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	25	44.44	20	SNP	1.000	A
VDR	7421	genome.wustl.edu	37	12	48240182	48240182	+	Silent	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr12:48240182C>T	ENST00000395324.2	-	9	1228	c.960G>A	c.(958-960)ctG>ctA	p.L320L	VDR_ENST00000535672.1_Silent_p.L288L|VDR_ENST00000549336.1_Silent_p.L320L|VDR_ENST00000229022.3_Silent_p.L320L|VDR_ENST00000550325.1_Silent_p.L370L			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	320	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCAGCTTCTTCAGTCCCACCT	0.612																																						dbGAP											0													60.0	37.0	45.0					12																	48240182		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.960G>A	12.37:g.48240182C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L320	ENST00000395324.2	37	c.960	CCDS8757.1	12																																																																																			VDR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000111424		0.612	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	VDR	HGNC	protein_coding	OTTHUMT00000406433.1	13	0.00	0	C			48240182	48240182	-1	no_errors	ENST00000229022	ensembl	human	known	69_37n	silent	3	62.50	5	SNP	0.999	T
VNN1	8876	genome.wustl.edu	37	6	133032939	133032939	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr6:133032939C>A	ENST00000367928.4	-	2	263	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	84	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AAGTTCCAGCCATAAATAGCA	0.458																																						dbGAP											0													116.0	117.0	116.0					6																	133032939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.250G>T	6.37:g.133032939C>A	ENSP00000356905:p.Gly84Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.G84C	ENST00000367928.4	37	c.250	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974052	0.53720	.	.	ENSG00000112299	ENST00000367928	D	0.88975	-2.45	5.6	4.73	0.59995	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.87328	2.875	0.49915	D	0.999835	D	0.89917	1.0	D	0.97110	1.0	D	0.94356	0.7583	10	0.87932	D	0	-10.9464	11.6884	0.51501	0.0:0.8532:0.0:0.1468	.	84	O95497	VNN1_HUMAN	C	84	ENSP00000356905:G84C	ENSP00000356905:G84C	G	-	1	0	VNN1	133074632	1.000000	0.71417	0.458000	0.27068	0.574000	0.36063	3.857000	0.55972	1.381000	0.46364	0.555000	0.69702	GGC	VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.458	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	118	0.00	0	C			133032939	133032939	-1	no_errors	ENST00000367928	ensembl	human	known	69_37n	missense	100	10.71	12	SNP	0.989	A
VPS18	57617	genome.wustl.edu	37	15	41195138	41195138	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr15:41195138C>T	ENST00000220509.5	+	5	2860	c.2521C>T	c.(2521-2523)Cgg>Tgg	p.R841W		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	841					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCAGGAGCTGCGGGGCCGCTA	0.612																																						dbGAP											0													84.0	85.0	85.0					15																	41195138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2521C>T	15.37:g.41195138C>T	ENSP00000220509:p.Arg841Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.R841W	ENST00000220509.5	37	c.2521	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302665	0.81136	.	.	ENSG00000104142	ENST00000220509	T	0.50277	0.75	5.76	5.76	0.90799	.	0.092823	0.64402	D	0.000001	T	0.71500	0.3347	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.76192	-0.3049	10	0.87932	D	0	-32.7844	13.883	0.63691	0.2539:0.7461:0.0:0.0	.	841	Q9P253	VPS18_HUMAN	W	841	ENSP00000220509:R841W	ENSP00000220509:R841W	R	+	1	2	VPS18	38982430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.472000	0.66768	2.724000	0.93272	0.561000	0.74099	CGG	VPS18	-	NULL	ENSG00000104142		0.612	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	16	0.00	0	C			41195138	41195138	+1	no_errors	ENST00000220509	ensembl	human	known	69_37n	missense	11	61.29	19	SNP	1.000	T
VPS13C	54832	genome.wustl.edu	37	15	62172909	62172909	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr15:62172909G>C	ENST00000261517.5	-	73	9974	c.9901C>G	c.(9901-9903)Caa>Gaa	p.Q3301E	VPS13C_ENST00000395896.4_Missense_Mutation_p.Q3301E|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3258E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q3258E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATATCTTGTTGGATTAACTTT	0.259																																						dbGAP											0													41.0	41.0	41.0					15																	62172909		2197	4283	6480	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9901C>G	15.37:g.62172909G>C	ENSP00000261517:p.Gln3301Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.Q3301E	ENST00000261517.5	37	c.9901	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	3.483	-0.105483	0.06967	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.40756	1.02;1.02;1.19	5.58	5.58	0.84498	.	0.255735	0.39834	N	0.001260	T	0.34600	0.0903	L	0.35723	1.085	0.46396	D	0.999022	B;B;B;B	0.09022	0.0;0.002;0.002;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.21655	-1.0239	10	0.08599	T	0.76	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	3258;3301;3258;3301	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	E	3258;3301;3301;3301	ENSP00000249837:Q3258E;ENSP00000261517:Q3301E;ENSP00000379233:Q3301E	ENSP00000249837:Q3258E	Q	-	1	0	VPS13C	59960201	1.000000	0.71417	0.998000	0.56505	0.213000	0.24496	4.283000	0.58977	2.629000	0.89072	0.650000	0.86243	CAA	VPS13C	-	NULL	ENSG00000129003		0.259	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	118	0.00	0	G	NM_017684		62172909	62172909	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	13	59.38	19	SNP	0.978	C
ZIM3	114026	genome.wustl.edu	37	19	57649909	57649909	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr19:57649909G>C	ENST00000269834.1	-	3	458	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCGGGATTCAGCCGCTGCCAC	0.512																																						dbGAP											0													95.0	86.0	89.0					19																	57649909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.73C>G	19.37:g.57649909G>C	ENSP00000269834:p.Leu25Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L25V	ENST00000269834.1	37	c.73	CCDS33125.1	19	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389491	0.42410	.	.	ENSG00000141946	ENST00000269834	T	0.18657	2.2	2.72	0.237	0.15475	Krueppel-associated box (4);	.	.	.	.	T	0.35189	0.0923	H	0.94964	3.605	0.09310	N	1	D	0.55172	0.97	P	0.45538	0.484	T	0.34378	-0.9831	9	0.87932	D	0	.	4.7454	0.13035	0.1352:0.0:0.6543:0.2105	.	25	Q96PE6	ZIM3_HUMAN	V	25	ENSP00000269834:L25V	ENSP00000269834:L25V	L	-	1	2	ZIM3	62341721	0.926000	0.31397	0.008000	0.14137	0.280000	0.26924	1.919000	0.40015	0.306000	0.22856	0.205000	0.17691	CTG	ZIM3	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000141946		0.512	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	41	0.00	0	G			57649909	57649909	-1	no_errors	ENST00000269834	ensembl	human	known	69_37n	missense	12	62.50	20	SNP	0.003	C
ZNF300	91975	genome.wustl.edu	37	5	150275563	150275564	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chr5:150275563_150275564insC	ENST00000274599.5	-	6	1657_1658	c.1237_1238insG	c.(1237-1239)gaafs	p.E413fs	ZNF300_ENST00000446148.2_Frame_Shift_Ins_p.E429fs|ZNF300_ENST00000418587.2_Frame_Shift_Ins_p.E377fs|ZNF300_ENST00000394226.2_Frame_Shift_Ins_p.E413fs|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E413K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCCCACATTCGGTACACTCA	0.455																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1238dupG	5.37:g.150275564_150275564dupC	ENSP00000274599:p.Glu413fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E429fs	ENST00000274599.5	37	c.1286_1285	CCDS4311.2	5																																																																																			ZNF300	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000145908		0.455	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		56	0.00	0	-	NM_052860		150275563	150275564	-1	no_errors	ENST00000446148	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.885:0.871	C
ZNF711	7552	genome.wustl.edu	37	X	84526405	84526405	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TU-01A-31D-A10G-09	TCGA-AR-A0TU-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	31922dbe-3b4a-4ac1-98fc-db88ae851462	406d5b1c-1023-40c4-bd89-aaa03b36ac39	g.chrX:84526405C>A	ENST00000373165.3	+	9	2163	c.1857C>A	c.(1855-1857)caC>caA	p.H619Q	ZNF711_ENST00000542798.1_Missense_Mutation_p.H461Q|ZNF711_ENST00000276123.3_Missense_Mutation_p.H619Q|ZNF711_ENST00000360700.4_Missense_Mutation_p.H665Q|ZNF711_ENST00000395402.1_Missense_Mutation_p.H627Q	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	619					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATTTTCCTCACAAATGTGAGG	0.428																																						dbGAP											0													78.0	61.0	67.0					X																	84526405		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1857C>A	X.37:g.84526405C>A	ENSP00000362260:p.His619Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H627Q	ENST00000373165.3	37	c.1881	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696381	0.48202	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.5	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.46145	D	0.000309	T	0.41696	0.1170	M	0.72479	2.2	0.49389	D	0.999787	D;D	0.71674	0.984;0.998	D;D	0.71656	0.974;0.966	T	0.16660	-1.0395	10	0.87932	D	0	-7.2438	10.6864	0.45846	0.0:0.7839:0.0:0.2161	.	665;619	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Q	627;619;619;665;461	ENSP00000378798:H627Q;ENSP00000362260:H619Q;ENSP00000276123:H619Q;ENSP00000353922:H665Q;ENSP00000442071:H461Q	ENSP00000276123:H619Q	H	+	3	2	ZNF711	84413061	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.015000	0.40961	0.143000	0.18926	0.513000	0.50165	CAC	ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147180		0.428	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	48	0.00	0	C	NM_021998		84526405	84526405	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	1.000	A
