#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
ARHGEF11	9826	genome.wustl.edu	37	1	156910022	156910022	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:156910022A>T	ENST00000361409.2	-	35	4332	c.3590T>A	c.(3589-3591)cTc>cAc	p.L1197H	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L613H|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L1237H|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1197					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAGTCAGCGAGCCCTTCCAT	0.627																																						dbGAP											0													81.0	72.0	75.0					1																	156910022		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3590T>A	1.37:g.156910022A>T	ENSP00000354644:p.Leu1197His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.L1237H	ENST00000361409.2	37	c.3710	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801088	0.70567	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.75154	-0.91;-0.9;-0.88	4.16	4.16	0.48862	.	0.000000	0.42294	D	0.000734	T	0.71517	0.3349	L	0.32530	0.975	0.32580	N	0.528607	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.74074	-0.3782	10	0.59425	D	0.04	-13.9018	12.3271	0.55018	1.0:0.0:0.0:0.0	.	613;1197;1237	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	H	1237;1197;613	ENSP00000357177:L1237H;ENSP00000354644:L1197H;ENSP00000313470:L613H	ENSP00000313470:L613H	L	-	2	0	ARHGEF11	155176646	0.987000	0.35691	0.733000	0.30861	0.926000	0.56050	6.121000	0.71602	1.735000	0.51646	0.459000	0.35465	CTC	ARHGEF11	-	NULL	ENSG00000132694		0.627	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	67	0.00	0	A	NM_198236		156910022	156910022	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	0.841	T
ARID5A	10865	genome.wustl.edu	37	2	97217854	97217854	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:97217854T>A	ENST00000357485.3	+	7	1667	c.1589T>A	c.(1588-1590)gTc>gAc	p.V530D	ARID5A_ENST00000454558.2_Missense_Mutation_p.V462D	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	530					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGCCCCCTGGTCATCCCGGCC	0.697																																						dbGAP											0													48.0	56.0	53.0					2																	97217854		2203	4299	6502	-	-	-	SO:0001583	missense	0			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1589T>A	2.37:g.97217854T>A	ENSP00000350078:p.Val530Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.V530D	ENST00000357485.3	37	c.1589	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168899	0.38315	.	.	ENSG00000196843	ENST00000357485;ENST00000454558	T	0.71103	-0.54	4.78	4.78	0.61160	.	0.000000	0.46442	D	0.000294	T	0.65863	0.2732	M	0.65975	2.015	0.46954	D	0.99926	P;P	0.46706	0.883;0.883	B;B	0.38458	0.231;0.274	T	0.72427	-0.4297	10	0.87932	D	0	.	10.8846	0.46960	0.0:0.0:0.0:1.0	.	462;530	C9J1Q0;Q03989	.;ARI5A_HUMAN	D	530;462	ENSP00000350078:V530D	ENSP00000350078:V530D	V	+	2	0	ARID5A	96581581	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.981000	0.56902	2.134000	0.65973	0.528000	0.53228	GTC	ARID5A	-	NULL	ENSG00000196843		0.697	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	36	0.00	0	T	NM_212481		97217854	97217854	+1	no_errors	ENST00000357485	ensembl	human	known	69_37n	missense	3	75.00	9	SNP	1.000	A
BCORL1	63035	genome.wustl.edu	37	X	129148840	129148840	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chrX:129148840G>T	ENST00000218147.7	+	4	2289	c.2092G>T	c.(2092-2094)Gac>Tac	p.D698Y	BCORL1_ENST00000303743.5_Missense_Mutation_p.D698Y|BCORL1_ENST00000540052.1_Missense_Mutation_p.D698Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D698Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	698					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAGGAATGGGGACCCGAGCAC	0.602																																						dbGAP											0													81.0	65.0	70.0					X																	129148840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2092G>T	X.37:g.129148840G>T	ENSP00000218147:p.Asp698Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D698Y	ENST00000218147.7	37	c.2092	CCDS14616.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.074104|2.074104	0.36566|0.36566	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.52526|.	0.68;1.06;0.66;0.68;1.15|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.38897|.	N|.	0.001536|.	T|T	0.58380|0.58380	0.2118|0.2118	N|N	0.24115|0.24115	0.695|0.695	0.43896|0.43896	D|D	0.996526|0.996526	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.972|.	T|T	0.63475|0.63475	-0.6629|-0.6629	10|6	0.72032|0.66056	D|D	0.01|0.02	-17.3904|-17.3904	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	698;698|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	Y|V	698;698;698;698;298|133	ENSP00000218147:D698Y;ENSP00000307541:D698Y;ENSP00000352253:D698Y;ENSP00000437775:D698Y;ENSP00000399483:D298Y|.	ENSP00000218147:D698Y|ENSP00000416520:G133V	D|G	+|+	1|2	0|0	BCORL1|BCORL1	128976521|128976521	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.541000|0.541000	0.35023|0.35023	6.598000|6.598000	0.74122|0.74122	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	GAC|GGA	BCORL1	-	NULL	ENSG00000085185		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	44	0.00	0	G	NM_021946		129148840	129148840	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	T
C10orf82	143379	genome.wustl.edu	37	10	118424328	118424328	+	Silent	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr10:118424328C>T	ENST00000369210.3	-	4	459	c.405G>A	c.(403-405)aaG>aaA	p.K135K	C10orf82_ENST00000588184.1_Silent_p.K135K	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	135										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CCAGGAAGTCCTTGTAGCAGT	0.562																																						dbGAP											0													165.0	143.0	150.0					10																	118424328		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.405G>A	10.37:g.118424328C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUM9|D3DRC3	Silent	SNP	NULL	p.K135	ENST00000369210.3	37	c.405	CCDS7596.1	10																																																																																			C10orf82	-	NULL	ENSG00000165863		0.562	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050527.1	100	0.00	0	C	NM_144661		118424328	118424328	-1	no_errors	ENST00000588184	ensembl	human	known	69_37n	silent	50	47.37	45	SNP	0.652	T
C14orf177	283598	genome.wustl.edu	37	14	99182541	99182541	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr14:99182541G>C	ENST00000325812.2	+	3	432	c.13G>C	c.(13-15)Gag>Cag	p.E5Q		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	5										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCATCGGAAAGAGCCTGGGGC	0.562																																						dbGAP											0													73.0	58.0	63.0					14																	99182541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.13G>C	14.37:g.99182541G>C	ENSP00000321360:p.Glu5Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7D2	Missense_Mutation	SNP	NULL	p.E5Q	ENST00000325812.2	37	c.13	CCDS9948.1	14	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274441	0.23307	.	.	ENSG00000176605	ENST00000325812;ENST00000541516	T;T	0.40756	1.11;1.02	3.0	-0.063	0.13778	.	.	.	.	.	T	0.32466	0.0830	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.61003	0.882	T	0.13791	-1.0496	9	0.87932	D	0	.	2.4395	0.04490	0.2818:0.0:0.4687:0.2495	.	5	Q52M58	CN177_HUMAN	Q	5	ENSP00000321360:E5Q;ENSP00000440687:E5Q	ENSP00000321360:E5Q	E	+	1	0	C14orf177	98252294	0.003000	0.15002	0.001000	0.08648	0.026000	0.11368	0.331000	0.19733	-0.024000	0.13941	0.561000	0.74099	GAG	C14orf177	-	NULL	ENSG00000176605		0.562	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf177	HGNC	protein_coding	OTTHUMT00000396078.1	34	0.00	0	G	NM_182560		99182541	99182541	+1	no_errors	ENST00000325812	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	0.001	C
CAMSAP2	23271	genome.wustl.edu	37	1	200818319	200818319	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:200818319G>T	ENST00000236925.4	+	12	2504	c.2455G>T	c.(2455-2457)Gca>Tca	p.A819S	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.A808S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A792S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	819					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGCGGCGGGTGCAGAAGATGA	0.418																																						dbGAP											0													81.0	92.0	88.0					1																	200818319		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2455G>T	1.37:g.200818319G>T	ENSP00000236925:p.Ala819Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.A819S	ENST00000236925.4	37	c.2455		1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267927	0.23136	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.71698	-0.59;-0.59;-0.59	5.58	5.58	0.84498	.	0.182212	0.47093	D	0.000246	T	0.57198	0.2037	N	0.21373	0.66	0.38423	D	0.946247	B;B;B	0.25772	0.08;0.048;0.134	B;B;B	0.22753	0.041;0.012;0.027	T	0.56347	-0.7994	10	0.08381	T	0.77	-21.2666	19.5661	0.95393	0.0:0.0:1.0:0.0	.	792;819;808	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	808;792;819	ENSP00000351684:A808S;ENSP00000416800:A792S;ENSP00000236925:A819S	ENSP00000236925:A819S	A	+	1	0	CAMSAP1L1	199084942	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	4.914000	0.63348	2.626000	0.88956	0.484000	0.47621	GCA	CAMSAP2	-	NULL	ENSG00000118200		0.418	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	227	0.00	0	G	NM_203459		200818319	200818319	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	448	25.70	155	SNP	0.969	T
CCNC	892	genome.wustl.edu	37	6	99993065	99993065	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr6:99993065C>G	ENST00000520429.1	-	11	1165	c.720G>C	c.(718-720)caG>caC	p.Q240H	CCNC_ENST00000369220.4_Missense_Mutation_p.Q239H|CCNC_ENST00000523985.1_Missense_Mutation_p.Q155H|CCNC_ENST00000520371.1_Missense_Mutation_p.Q240H|CCNC_ENST00000523799.1_Missense_Mutation_p.Q155H|CCNC_ENST00000518714.1_Missense_Mutation_p.Q240H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	240					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AATTCTTCCACTGCTCATATA	0.308																																					GBM(57;273 1020 40094 44454 49348)	dbGAP											0													142.0	132.0	136.0					6																	99993065		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.720G>C	6.37:g.99993065C>G	ENSP00000428982:p.Gln240His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H	p.Q240H	ENST00000520429.1	37	c.720	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958397	0.53400	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.32988	1.86;1.85;1.86;1.44;1.43;1.44;1.86;1.47	5.88	3.16	0.36331	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.04952	0.0133	N	0.16266	0.395	0.80722	D	1	D;D	0.53745	0.962;0.962	B;B	0.27887	0.084;0.084	T	0.30149	-0.9988	9	.	.	.	-5.2665	9.8943	0.41309	0.0:0.731:0.0:0.269	.	240;240	Q7Z4L3;P24863	.;CCNC_HUMAN	H	240;239;240;155;186;155;240;155	ENSP00000428982:Q240H;ENSP00000358222:Q239H;ENSP00000430381:Q240H;ENSP00000430014:Q155H;ENSP00000430077:Q186H;ENSP00000430119:Q155H;ENSP00000430294:Q240H;ENSP00000427885:Q155H	.	Q	-	3	2	CCNC	100099786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.734000	0.47368	0.822000	0.34565	-0.157000	0.13467	CAG	CCNC	-	superfamily_Cyclin-like,pirsf_Cyclin_C/H	ENSG00000112237		0.308	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	114	0.00	0	C	NM_005190		99993065	99993065	-1	no_errors	ENST00000520429	ensembl	human	known	69_37n	missense	33	57.50	46	SNP	1.000	G
CDK14	5218	genome.wustl.edu	37	7	90377007	90377007	+	Silent	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr7:90377007C>T	ENST00000380050.3	+	4	512	c.381C>T	c.(379-381)ccC>ccT	p.P127P	CDK14_ENST00000265741.3_Silent_p.P109P|CDK14_ENST00000406263.1_Silent_p.P81P|CDK14_ENST00000436577.2_Intron			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	127					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAACAAGTCCCAAATTTGGAA	0.323																																					GBM(83;1228 1256 8311 16577 31299)	dbGAP											0													113.0	116.0	115.0					7																	90377007		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.381C>T	7.37:g.90377007C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	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.P127	ENST00000380050.3	37	c.381		7																																																																																			CDK14	-	superfamily_Kinase-like_dom	ENSG00000058091		0.323	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	344	0.00	0	C	NM_012395		90377007	90377007	+1	no_errors	ENST00000380050	ensembl	human	known	69_37n	silent	142	41.15	100	SNP	1.000	T
CHERP	10523	genome.wustl.edu	37	19	16652820	16652820	+	Silent	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr19:16652820G>A	ENST00000198939.6	-	2	96	c.60C>T	c.(58-60)gcC>gcT	p.A20A	CHERP_ENST00000546361.2_Silent_p.A20A|CTD-3222D19.2_ENST00000409035.1_Intron|CTD-3222D19.7_ENST00000595909.1_lincRNA|RN7SL146P_ENST00000472338.2_RNA					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCACGAACTGGGCGAGCTTGT	0.577																																						dbGAP											0													67.0	78.0	75.0					19																	16652820		1915	4107	6022	-	-	-	SO:0001819	synonymous_variant	0			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.60C>T	19.37:g.16652820G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A20	ENST00000198939.6	37	c.60		19																																																																																			CHERP	-	pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	ENSG00000085872		0.577	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	20	0.00	0	G	NM_006387		16652820	16652820	-1	no_errors	ENST00000546361	ensembl	human	known	69_37n	silent	20	35.48	11	SNP	0.999	A
COL4A4	1286	genome.wustl.edu	37	2	227872737	227872737	+	Silent	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:227872737C>T	ENST00000396625.3	-	47	5013	c.4806G>A	c.(4804-4806)ctG>ctA	p.L1602L	COL4A4_ENST00000329662.7_Silent_p.L1599L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1602	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACTCACCATCAGGAATGAAT	0.592																																						dbGAP											0													31.0	34.0	33.0					2																	227872737		1934	4138	6072	-	-	-	SO:0001819	synonymous_variant	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4806G>A	2.37:g.227872737C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L1602	ENST00000396625.3	37	c.4806	CCDS42828.1	2																																																																																			COL4A4	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000081052		0.592	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	27	0.00	0	C	NM_000092		227872737	227872737	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.966	T
CPAMD8	27151	genome.wustl.edu	37	19	17014626	17014626	+	Silent	SNP	G	G	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr19:17014626G>T	ENST00000443236.1	-	33	4465	c.4434C>A	c.(4432-4434)atC>atA	p.I1478I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1431						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATAGGACAAGATGGCATATT	0.587																																						dbGAP											0													109.0	118.0	115.0					19																	17014626		2117	4232	6349	-	-	-	SO:0001819	synonymous_variant	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4434C>A	19.37:g.17014626G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.S1489Y	ENST00000443236.1	37	c.4466	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068572	0.20067	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.32	3.32	0.38043	.	.	.	.	.	T	0.58552	0.2130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55541	-0.8125	4	.	.	.	.	8.7332	0.34512	0.1076:0.0:0.8924:0.0	.	.	.	.	Y	1489	.	.	S	-	2	0	CPAMD8	16875626	1.000000	0.71417	0.921000	0.36526	0.991000	0.79684	3.078000	0.50096	1.443000	0.47586	0.456000	0.33151	TCT	CPAMD8	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	52	0.00	0	G	NM_015692		17014626	17014626	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443236	ensembl	human	known	69_37n	missense	133	15.82	25	SNP	1.000	T
DDX11	1663	genome.wustl.edu	37	12	31242378	31242381	+	Frame_Shift_Del	DEL	GCAG	GCAG	-	rs567458716		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	GCAG	GCAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr12:31242378_31242381delGCAG	ENST00000407793.2	+	8	1085_1088	c.834_837delGCAG	c.(832-837)gtgcagfs	p.VQ278fs	DDX11_ENST00000545668.1_Frame_Shift_Del_p.VQ278fs|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Frame_Shift_Del_p.VQ278fs|DDX11_ENST00000228264.6_Frame_Shift_Del_p.VQ252fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.VQ278fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	278	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TAGGTTCTGTGCAGCTTATCAACG	0.52										Multiple Myeloma(12;0.14)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.834_837delGCAG	12.37:g.31242378_31242381delGCAG	ENSP00000384703:p.Val278fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.Q279fs	ENST00000407793.2	37	c.834_837	CCDS44856.1	12																																																																																			DDX11	-	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.520	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	30	0.00	0	GCAG	NM_030653		31242378	31242381	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	frame_shift_del	16	23.81	5	DEL	1.000:1.000:1.000:0.979	-
DGCR14	8220	genome.wustl.edu	37	22	19125811	19125811	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr22:19125811delC	ENST00000252137.6	-	7	885	c.842delG	c.(841-843)ggcfs	p.G281fs		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	281					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GCCATCGGGGCCCACCTTGCC	0.627																																						dbGAP											0													48.0	42.0	44.0					22																	19125811		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.842delG	22.37:g.19125811delC	ENSP00000252137:p.Gly281fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AH7|Q9BTZ4	Frame_Shift_Del	DEL	pfam_Nuclear_protein_DGCR14	p.G281fs	ENST00000252137.6	37	c.842	CCDS13756.1	22																																																																																			DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.627	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	9	0.00	0	C			19125811	19125811	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
EIF5B	9669	genome.wustl.edu	37	2	99999274	99999274	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:99999274G>C	ENST00000289371.6	+	14	2363	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	721	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCTCTTTGTGACATTGCCAT	0.318																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													68.0	62.0	64.0					2																	99999274		1826	4076	5902	-	-	-	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2161G>C	2.37:g.99999274G>C	ENSP00000289371:p.Asp721His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.D721H	ENST00000289371.6	37	c.2161	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040581	0.93630	.	.	ENSG00000158417	ENST00000289371	D	0.84223	-1.82	6.06	6.06	0.98353	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	.	.	.	.	D	0.95629	0.8579	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96191	0.9138	8	.	.	.	-33.4886	20.6282	0.99521	0.0:0.0:1.0:0.0	.	721	O60841	IF2P_HUMAN	H	721	ENSP00000289371:D721H	.	D	+	1	0	EIF5B	99365706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.830000	0.99415	2.871000	0.98454	0.655000	0.94253	GAC	EIF5B	-	pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	ENSG00000158417		0.318	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	102	0.00	0	G	NM_015904		99999274	99999274	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	missense	72	40.50	49	SNP	1.000	C
ELAVL3	1995	genome.wustl.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)ggcfs	p.G16fs	CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.G170fs|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G16fs|RN7SL669P_ENST00000581926.1_RNA	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.48dupG	19.37:g.11577613_11577613dupC	ENSP00000352162:p.Gly16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.A18fs	ENST00000359227.3	37	c.48_47	CCDS32912.1	19																																																																																			ELAVL3	-	NULL	ENSG00000196361		0.649	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	25	0.00	0	-	NM_001420		11577604	11577605	-1	no_errors	ENST00000359227	ensembl	human	known	69_37n	frame_shift_ins	30	23.08	9	INS	1.000:1.000	C
ELOVL5	60481	genome.wustl.edu	37	6	53134010	53134010	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr6:53134010C>G	ENST00000542638.1	-	8	1262	c.815G>C	c.(814-816)gGg>gCg	p.G272A	ELOVL5_ENST00000541407.1_Missense_Mutation_p.G299A|ELOVL5_ENST00000370918.4_Missense_Mutation_p.G262A|ELOVL5_ENST00000304434.6_Missense_Mutation_p.G272A			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	272					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGCCATGGACCCATTCTGGTG	0.478																																						dbGAP											0													157.0	139.0	145.0					6																	53134010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.815G>C	6.37:g.53134010C>G	ENSP00000440728:p.Gly272Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.G299A	ENST00000542638.1	37	c.896	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102421	0.76983	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.26957	1.83;1.81;1.81;1.7	6.04	6.04	0.98038	.	.	.	.	.	T	0.26448	0.0646	.	.	.	0.80722	D	1	P;B	0.46457	0.878;0.044	P;B	0.46659	0.523;0.027	T	0.00553	-1.1674	8	0.42905	T	0.14	-7.648	20.6524	0.99598	0.0:1.0:0.0:0.0	.	299;272	F6SH78;Q9NYP7	.;ELOV5_HUMAN	A	262;272;272;299	ENSP00000359956:G262A;ENSP00000306640:G272A;ENSP00000440728:G272A;ENSP00000438095:G299A	ENSP00000306640:G272A	G	-	2	0	ELOVL5	53241969	1.000000	0.71417	0.642000	0.29436	0.995000	0.86356	6.477000	0.73591	2.890000	0.99128	0.585000	0.79938	GGG	ELOVL5	-	NULL	ENSG00000012660		0.478	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	103	0.00	0	C	NM_021814		53134010	53134010	-1	no_errors	ENST00000541407	ensembl	human	known	69_37n	missense	108	32.50	52	SNP	0.999	G
EML4	27436	genome.wustl.edu	37	2	42557268	42557268	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:42557268A>T	ENST00000318522.5	+	23	3129	c.2867A>T	c.(2866-2868)gAg>gTg	p.E956V	EML4_ENST00000402711.2_Missense_Mutation_p.E898V|EML4_ENST00000401738.3_Missense_Mutation_p.E967V|EML4_ENST00000453191.2_Missense_Mutation_p.E220V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	956					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CTTTATGAAGAGCCATGCAAC	0.562			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													62.0	52.0	55.0					2																	42557268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2867A>T	2.37:g.42557268A>T	ENSP00000320663:p.Glu956Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E956V	ENST00000318522.5	37	c.2867	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581854	0.46006	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.51817	1.0;1.06;1.05;0.69	5.82	3.44	0.39384	.	0.794069	0.11474	N	0.560392	T	0.35008	0.0917	L	0.27053	0.805	0.38296	D	0.942855	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.10450	0.002;0.002;0.005;0.004	T	0.16541	-1.0399	10	0.87932	D	0	-3.819	7.8629	0.29520	0.8101:0.0:0.0666:0.1234	.	898;898;967;956	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	V	956;898;967;220	ENSP00000320663:E956V;ENSP00000385059:E898V;ENSP00000384939:E967V;ENSP00000400590:E220V	ENSP00000320663:E956V	E	+	2	0	EML4	42410772	1.000000	0.71417	0.422000	0.26621	0.075000	0.17131	2.256000	0.43231	0.459000	0.27016	0.533000	0.62120	GAG	EML4	-	NULL	ENSG00000143924		0.562	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	107	0.00	0	A	NM_019063		42557268	42557268	+1	no_errors	ENST00000318522	ensembl	human	known	69_37n	missense	68	37.04	40	SNP	0.997	T
FAM171B	165215	genome.wustl.edu	37	2	187616031	187616031	+	Splice_Site	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:187616031G>A	ENST00000304698.5	+	5	1098	c.895G>A	c.(895-897)Ggt>Agt	p.G299S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	299						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TATGAACACAGGTATGTGAGC	0.358																																						dbGAP											0													60.0	61.0	61.0					2																	187616031		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.895+1G>A	2.37:g.187616031G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.G299S	ENST00000304698.5	37	c.895	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.164417	0.94727	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.65178	-0.14	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81728	-0.0800	10	0.87932	D	0	-12.9603	17.5582	0.87898	0.0:0.0:1.0:0.0	.	299;300	Q6P995;A8K122	F171B_HUMAN;.	S	299	ENSP00000304108:G299S	ENSP00000272804:G299S	G	+	1	0	FAM171B	187324276	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.699000	0.84547	2.581000	0.87130	0.609000	0.83330	GGT	FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.358	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	114	0.00	0	G	NM_177454	Missense_Mutation	187616031	187616031	+1	no_errors	ENST00000304698	ensembl	human	known	69_37n	missense	74	41.73	53	SNP	1.000	A
FGFR4	2264	genome.wustl.edu	37	5	176520707	176520707	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr5:176520707G>A	ENST00000292408.4	+	11	1695	c.1450G>A	c.(1450-1452)Gca>Aca	p.A484T	FGFR4_ENST00000502906.1_Missense_Mutation_p.A484T|FGFR4_ENST00000393637.1_Missense_Mutation_p.A444T|FGFR4_ENST00000292410.3_Missense_Mutation_p.A444T|FGFR4_ENST00000393648.2_Missense_Mutation_p.A416T	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGTAGTACGTGCAGAGGCCTT	0.632										TSP Lung(9;0.080)																												dbGAP											0													59.0	49.0	53.0					5																	176520707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1450G>A	5.37:g.176520707G>A	ENSP00000292408:p.Ala484Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A484T	ENST00000292408.4	37	c.1450	CCDS4410.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.059914|4.059914	0.76074|0.76074	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D;D|.	0.85088|.	-1.94;-1.94;-1.94;-1.94;-1.94|.	4.48|4.48	4.48|4.48	0.54585|0.54585	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79493|0.79493	0.4455|0.4455	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.999|.	T|T	0.82692|0.82692	-0.0331|-0.0331	10|5	0.87932|.	D|.	0|.	.|.	16.9773|16.9773	0.86316|0.86316	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;444;484|.	B4DVP5;P22455-2;P22455|.	.;.;FGFR4_HUMAN|.	T|Y	484;416;484;444;444;712|115	ENSP00000292408:A484T;ENSP00000377259:A416T;ENSP00000424960:A484T;ENSP00000292410:A444T;ENSP00000377254:A444T|.	ENSP00000292408:A484T|.	A|C	+|+	1|2	0|0	FGFR4|FGFR4	176453313|176453313	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.203000|0.203000	0.24098|0.24098	9.565000|9.565000	0.98154|0.98154	2.332000|2.332000	0.79248|0.79248	0.462000|0.462000	0.41574|0.41574	GCA|TGC	FGFR4	-	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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom	ENSG00000160867		0.632	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	72	0.00	0	G			176520707	176520707	+1	no_errors	ENST00000292408	ensembl	human	known	69_37n	missense	21	51.16	22	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216264037	216264037	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:216264037C>G	ENST00000359671.1	-	21	3556	c.3291G>C	c.(3289-3291)gaG>gaC	p.E1097D	FN1_ENST00000345488.5_Missense_Mutation_p.E1097D|FN1_ENST00000443816.1_Missense_Mutation_p.E1097D|FN1_ENST00000336916.4_Missense_Mutation_p.E1097D|FN1_ENST00000356005.4_Missense_Mutation_p.E1097D|FN1_ENST00000354785.4_Missense_Mutation_p.E1097D|FN1_ENST00000323926.6_Missense_Mutation_p.E1097D|FN1_ENST00000432072.2_Missense_Mutation_p.E1097D|FN1_ENST00000357867.4_Missense_Mutation_p.E1097D|FN1_ENST00000446046.1_Missense_Mutation_p.E1097D|FN1_ENST00000346544.3_Missense_Mutation_p.E1097D|FN1_ENST00000357009.2_Missense_Mutation_p.E1097D|FN1_ENST00000421182.1_Missense_Mutation_p.E1097D			P02751	FINC_HUMAN	fibronectin 1	1097	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTCAGTCACCTCGGTGTTGT	0.448																																						dbGAP											0													160.0	151.0	154.0					2																	216264037		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3291G>C	2.37:g.216264037C>G	ENSP00000352696:p.Glu1097Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E1097D	ENST00000359671.1	37	c.3291		2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926938	0.52759	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	6.01	4.22	0.49857	.	0.074591	0.56097	D	0.000037	T	0.52821	0.1758	N	0.26042	0.785	0.51482	D	0.99992	D;B;P;D;D;B;D;D;D;D	0.71674	0.994;0.038;0.711;0.994;0.99;0.067;0.998;0.988;0.994;0.987	D;B;P;D;D;B;D;D;D;D	0.85130	0.992;0.132;0.635;0.992;0.996;0.092;0.997;0.992;0.992;0.992	T	0.50482	-0.8823	10	0.26408	T	0.33	.	5.8419	0.18639	0.0:0.657:0.0:0.343	.	1097;1097;1097;1097;1097;1097;1097;1097;1097;1097	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	D	1097	ENSP00000394423:E1097D;ENSP00000323534:E1097D;ENSP00000338200:E1097D;ENSP00000350534:E1097D;ENSP00000346839:E1097D;ENSP00000352696:E1097D;ENSP00000265312:E1097D;ENSP00000273049:E1097D;ENSP00000349509:E1097D;ENSP00000410422:E1097D;ENSP00000415018:E1097D;ENSP00000399538:E1097D;ENSP00000348285:E1097D	ENSP00000265313:E1097D	E	-	3	2	FN1	215972282	0.866000	0.29940	1.000000	0.80357	0.758000	0.43043	-0.153000	0.10144	1.562000	0.49601	0.650000	0.86243	GAG	FN1	-	pfam_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.448	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		100	0.00	0	C	NM_212476		216264037	216264037	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	99	33.11	49	SNP	1.000	G
FREM1	158326	genome.wustl.edu	37	9	14801748	14801748	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr9:14801748C>T	ENST00000380880.3	-	20	4379	c.3596G>A	c.(3595-3597)aGg>aAg	p.R1199K	FREM1_ENST00000380881.4_Missense_Mutation_p.R1200K|FREM1_ENST00000422223.2_Missense_Mutation_p.R1199K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1199					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTAAACCCCCTATCGATGAG	0.527																																						dbGAP											0													148.0	145.0	146.0					9																	14801748		2002	4182	6184	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3596G>A	9.37:g.14801748C>T	ENSP00000370262:p.Arg1199Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.R1200K	ENST00000380880.3	37	c.3599	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	2.381	-0.342090	0.05243	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.11169	2.81;2.8;2.8	5.51	3.6	0.41247	.	1.119980	0.06368	N	0.713026	T	0.10680	0.0261	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.46925	-0.9156	10	0.06625	T	0.88	0.3233	9.6243	0.39741	0.0:0.7773:0.1461:0.0766	.	1199	Q5H8C1	FREM1_HUMAN	K	1200;1199;1199	ENSP00000370263:R1200K;ENSP00000412940:R1199K;ENSP00000370262:R1199K	ENSP00000370257:R1202K	R	-	2	0	FREM1	14791748	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.399000	0.20916	0.634000	0.30469	0.591000	0.81541	AGG	FREM1	-	superfamily_Cadherin-like	ENSG00000164946		0.527	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	207	0.00	0	C	NM_144966		14801748	14801748	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	114	36.81	67	SNP	0.001	T
GAS2L3	283431	genome.wustl.edu	37	12	101017635	101017635	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr12:101017635G>C	ENST00000539410.1	+	9	1438	c.1052G>C	c.(1051-1053)gGt>gCt	p.G351A	GAS2L3_ENST00000537247.1_Missense_Mutation_p.G247A|GAS2L3_ENST00000266754.5_Missense_Mutation_p.G351A|GAS2L3_ENST00000547754.1_Missense_Mutation_p.G351A			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	351					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CGTCCACCAGGTGCATTGGTG	0.438																																						dbGAP											0													91.0	85.0	87.0					12																	101017635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1052G>C	12.37:g.101017635G>C	ENSP00000439672:p.Gly351Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN2	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.G351A	ENST00000539410.1	37	c.1052	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585775	0.13749	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.57	-1.52	0.08637	.	0.473992	0.18830	N	0.129983	T	0.08537	0.0212	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35822	-0.9773	10	0.06891	T	0.86	-6.0622	4.1594	0.10277	0.1338:0.3959:0.3046:0.1656	.	351	Q86XJ1	GA2L3_HUMAN	A	351;351;247;351	ENSP00000266754:G351A;ENSP00000448955:G351A;ENSP00000442406:G247A;ENSP00000439672:G351A	ENSP00000266754:G351A	G	+	2	0	GAS2L3	99541766	0.000000	0.05858	0.003000	0.11579	0.095000	0.18619	-0.226000	0.09139	0.032000	0.15435	0.655000	0.94253	GGT	GAS2L3	-	NULL	ENSG00000139354		0.438	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	225	0.00	0	G	NM_174942		101017635	101017635	+1	no_errors	ENST00000266754	ensembl	human	known	69_37n	missense	212	40.28	143	SNP	0.000	C
GBA3	57733	genome.wustl.edu	37	4	22820484	22820484	+	RNA	SNP	T	T	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr4:22820484T>A	ENST00000503442.1	+	0	518				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508264.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGAGTCCCTTACACATCGGC	0.493																																						dbGAP											0													102.0	90.0	94.0					4																	22820484		1911	4136	6047	-	-	-			0			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820484T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	NULL	p.Y450N	ENST00000503442.1	37	c.1348		4																																																																																			GBA3	-	NULL	ENSG00000249948		0.493	GBA3-003	KNOWN	basic	polymorphic_pseudogene	GBA3	HGNC	polymorphic_pseudogene	OTTHUMT00000360620.2	96	0.00	0	T			22820484	22820484	+1	pseudogene	ENST00000508166	ensembl	human	known	69_37n	missense	38	35.59	21	SNP	1.000	A
HEATR1	55127	genome.wustl.edu	37	1	236749563	236749563	+	Silent	SNP	A	A	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:236749563A>C	ENST00000366582.3	-	15	2019	c.1905T>G	c.(1903-1905)ccT>ccG	p.P635P	HEATR1_ENST00000366581.2_Silent_p.P635P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	635					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCTTAATAGAGGGTGCAGGG	0.313																																						dbGAP											0													38.0	40.0	40.0					1																	236749563		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1905T>G	1.37:g.236749563A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.P635	ENST00000366582.3	37	c.1905	CCDS31066.1	1																																																																																			HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.313	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	99	0.00	0	A	XM_375853		236749563	236749563	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	silent	155	24.64	51	SNP	0.553	C
HERC1	8925	genome.wustl.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q4385fs	ENST00000443617.2	37	c.13154_13153	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	30	0.00	0	-	NM_003922		63918305	63918306	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	1.000:1.000	G
HMMR	3161	genome.wustl.edu	37	5	162905690	162905690	+	Splice_Site	SNP	G	G	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr5:162905690G>T	ENST00000358715.3	+	12	1302	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	HMMR_ENST00000393915.4_Splice_Site_p.G423G|HMMR_ENST00000432118.2_Splice_Site_p.G336G|HMMR_ENST00000353866.3_Splice_Site_p.G407G			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	422					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTTTTCTTAGGAAGGAGGCTG	0.378																																						dbGAP											0													89.0	91.0	91.0					5																	162905690		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1266-1G>T	5.37:g.162905690G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	NULL	p.G423	ENST00000358715.3	37	c.1269	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.378	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	298	0.00	0	G	NM_012484	Silent	162905690	162905690	+1	no_errors	ENST00000393915	ensembl	human	known	69_37n	silent	292	21.51	80	SNP	1.000	T
HS6ST1	9394	genome.wustl.edu	37	2	129026227	129026227	+	Missense_Mutation	SNP	G	G	T	rs3958533		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:129026227G>T	ENST00000259241.6	-	2	758	c.745C>A	c.(745-747)Cgc>Agc	p.R249S		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	249					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R249S(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCACCTGGCGGTTGTTGGCC	0.672																																						dbGAP											1	Substitution - Missense(1)	skin(1)											14.0	18.0	17.0					2																	129026227		1971	4143	6114	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.745C>A	2.37:g.129026227G>T	ENSP00000259241:p.Arg249Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R249S	ENST00000259241.6	37	c.745	CCDS42748.1	2	257	0.11767399267399267	38	0.07723577235772358	38	0.10497237569060773	62	0.10839160839160839	119	0.15699208443271767	G	27.0	4.792392	0.90453	.	.	ENSG00000136720	ENST00000259241	T	0.75821	-0.97	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.02571	0.0078	M	0.89601	3.045	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.48305	-0.9047	9	.	.	.	-0.1889	18.424	0.90602	0.0:0.0:1.0:0.0	rs3958533	249	O60243	H6ST1_HUMAN	S	249	ENSP00000259241:R249S	.	R	-	1	0	HS6ST1	128742697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.939000	0.70179	2.346000	0.79739	0.462000	0.41574	CGC	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.672	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	11	0.00	0	G	NM_004807		129026227	129026227	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	0	100.00	3	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124223779	124223779	+	Silent	SNP	C	C	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr3:124223779C>A	ENST00000393496.1	+	1	194	c.30C>A	c.(28-30)tcC>tcA	p.S10S	KALRN_ENST00000360013.3_Intron|KALRN_ENST00000240874.3_Intron|KALRN_ENST00000460856.1_Intron			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1637					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGACAGTCCAAGGCAAACA	0.463																																						dbGAP											0													22.0	17.0	19.0					3																	124223779		876	1987	2863	-	-	-	SO:0001819	synonymous_variant	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.30C>A	3.37:g.124223779C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S10	ENST00000393496.1	37	c.30		3																																																																																			KALRN	-	NULL	ENSG00000160145		0.463	KALRN-002	NOVEL	basic	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258840.2	50	0.00	0	C	NM_003947		124223779	124223779	+1	no_errors	ENST00000393496	ensembl	human	novel	69_37n	silent	87	21.62	24	SNP	0.679	A
KCNQ5	56479	genome.wustl.edu	37	6	73879506	73879506	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr6:73879506A>C	ENST00000370398.1	+	11	1615	c.1506A>C	c.(1504-1506)gaA>gaC	p.E502D	KCNQ5_ENST00000342056.2_Missense_Mutation_p.E521D|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E493D|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E503D|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E512D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E502D|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	502					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TATATGATGAAAAAGGATGCC	0.423																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													167.0	135.0	146.0					6																	73879506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1506A>C	6.37:g.73879506A>C	ENSP00000359425:p.Glu502Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E512D	ENST00000370398.1	37	c.1536	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744963	0.30865	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.46	-3.64	0.04515	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.165265	0.52532	N	0.000065	D	0.96691	0.8920	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.10296	0.002;0.003;0.003;0.002	B;B;B;B	0.17979	0.015;0.02;0.012;0.012	D	0.87108	0.2183	10	0.16420	T	0.52	.	13.0738	0.59075	0.1073:0.2192:0.6735:0.0	.	512;521;493;502	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	D	521;521;502;502;512;503;493	ENSP00000345055:E521D;ENSP00000347326:E502D;ENSP00000359425:E502D;ENSP00000385501:E512D;ENSP00000347853:E503D;ENSP00000384453:E493D	ENSP00000345055:E521D	E	+	3	2	KCNQ5	73936227	0.997000	0.39634	0.944000	0.38274	0.996000	0.88848	0.261000	0.18442	-0.995000	0.03459	0.533000	0.62120	GAA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000185760		0.423	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	120	0.00	0	A	NM_019842		73879506	73879506	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	107	23.57	33	SNP	0.980	C
KIAA1755	85449	genome.wustl.edu	37	20	36869429	36869429	+	Silent	SNP	C	C	A	rs371997422		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr20:36869429C>A	ENST00000279024.4	-	3	1375	c.1104G>T	c.(1102-1104)ccG>ccT	p.P368P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	368										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGCCTTGGGGCGGCCTTTCTG	0.552																																						dbGAP											0													133.0	144.0	140.0					20																	36869429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1104G>T	20.37:g.36869429C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.P368	ENST00000279024.4	37	c.1104	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.552	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	335	0.00	0	C	NM_001029864		36869429	36869429	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	silent	268	38.02	165	SNP	0.000	A
KIF4B	285643	genome.wustl.edu	37	5	154393807	154393807	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr5:154393807A>G	ENST00000435029.4	+	1	548	c.388A>G	c.(388-390)Agt>Ggt	p.S130G		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGATAAAAAGAGTGACTTTGA	0.363																																						dbGAP											0													85.0	91.0	89.0					5																	154393807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.388A>G	5.37:g.154393807A>G	ENSP00000387875:p.Ser130Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S130G	ENST00000435029.4	37	c.388	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	a	3.180	-0.168204	0.06461	.	.	ENSG00000226650	ENST00000435029	T	0.72615	-0.67	1.93	1.93	0.25924	Kinesin, motor domain (4);	.	.	.	.	T	0.52821	0.1758	L	0.28504	0.86	0.31675	N	0.64387	B	0.11235	0.004	B	0.16722	0.016	T	0.51694	-0.8673	9	0.30854	T	0.27	.	4.1597	0.10278	0.6893:0.0:0.0:0.3107	.	130	Q2VIQ3	KIF4B_HUMAN	G	130	ENSP00000387875:S130G	ENSP00000387875:S130G	S	+	1	0	KIF4B	154374000	0.040000	0.19996	0.451000	0.26982	0.634000	0.38068	0.589000	0.23939	1.151000	0.42436	0.533000	0.62120	AGT	KIF4B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000226650		0.363	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	177	0.00	0	A			154393807	154393807	+1	no_errors	ENST00000435029	ensembl	human	known	69_37n	missense	94	38.56	59	SNP	0.908	G
KSR1	8844	genome.wustl.edu	37	17	25909747	25909747	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr17:25909747A>G	ENST00000319524.6	+	4	596	c.596A>G	c.(595-597)gAc>gGc	p.D199G	KSR1_ENST00000398988.3_Missense_Mutation_p.D62G|KSR1_ENST00000509603.2_Missense_Mutation_p.D199G|KSR1_ENST00000268763.6_Missense_Mutation_p.D62G			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	199					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCTTCCACGGACACCCTCTCA	0.657																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	dbGAP											0													36.0	42.0	40.0					17																	25909747		2040	4210	6250	-	-	-	SO:0001583	missense	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.596A>G	17.37:g.25909747A>G	ENSP00000323178:p.Asp199Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D199G	ENST00000319524.6	37	c.596		17	.	.	.	.	.	.	.	.	.	.	A	9.729	1.161770	0.21538	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00470	7.2;7.2;7.2	5.7	5.7	0.88788	.	0.209962	0.50627	D	0.000103	T	0.00384	0.0012	L	0.54323	1.7	0.41494	D	0.988241	P	0.40144	0.704	B	0.29716	0.106	T	0.80834	-0.1205	10	0.42905	T	0.14	.	9.493	0.38971	0.9133:0.0:0.0867:0.0	.	197	Q8IVT5	KSR1_HUMAN	G	199;199;62;62	ENSP00000323178:D199G;ENSP00000438795:D199G;ENSP00000268763:D62G	ENSP00000268763:D62G	D	+	2	0	KSR1	22933874	0.999000	0.42202	0.114000	0.21550	0.025000	0.11179	4.343000	0.59348	2.176000	0.68965	0.374000	0.22700	GAC	KSR1	-	NULL	ENSG00000141068		0.657	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		32	0.00	0	A	NM_014238		25909747	25909747	+1	no_errors	ENST00000319524	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	0.802	G
LIG3	3980	genome.wustl.edu	37	17	33323606	33323606	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr17:33323606A>G	ENST00000378526.4	+	11	1890	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R	LIG3_ENST00000262327.5_Missense_Mutation_p.Q586R	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	586					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCAGCCTTCCAGGATGCTAAT	0.428								Other BER factors																														dbGAP											0													219.0	185.0	197.0					17																	33323606		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1757A>G	17.37:g.33323606A>G	ENSP00000367787:p.Gln586Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.Q586R	ENST00000378526.4	37	c.1757	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926866	0.34002	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.83914	-1.78;-1.78	5.47	5.47	0.80525	DNA ligase, ATP-dependent, central (2);	0.168717	0.53938	D	0.000055	T	0.68072	0.2961	N	0.04669	-0.19	0.58432	D	0.999999	B;B	0.15930	0.015;0.015	B;B	0.25405	0.06;0.021	T	0.64002	-0.6509	10	0.27082	T	0.32	-15.4754	15.0219	0.71637	1.0:0.0:0.0:0.0	.	586;586	P49916;E5KLB6	DNLI3_HUMAN;.	R	586	ENSP00000367787:Q586R;ENSP00000262327:Q586R	ENSP00000262327:Q586R	Q	+	2	0	LIG3	30347719	1.000000	0.71417	0.994000	0.49952	0.096000	0.18686	7.105000	0.77031	2.202000	0.70862	0.533000	0.62120	CAG	LIG3	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.428	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	118	0.00	0	A	NM_013975		33323606	33323606	+1	no_errors	ENST00000378526	ensembl	human	known	69_37n	missense	102	40.80	71	SNP	0.995	G
MADD	8567	genome.wustl.edu	37	11	47336775	47336775	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr11:47336775G>T	ENST00000311027.5	+	30	4439	c.4274G>T	c.(4273-4275)gGa>gTa	p.G1425V	MADD_ENST00000395344.3_Missense_Mutation_p.G1319V|MADD_ENST00000405573.2_Missense_Mutation_p.G235V|MADD_ENST00000349238.3_Missense_Mutation_p.G1386V|MADD_ENST00000402192.2_Missense_Mutation_p.G1365V|MADD_ENST00000407859.3_Missense_Mutation_p.G1343V|MADD_ENST00000395336.3_Missense_Mutation_p.G1425V|MADD_ENST00000402799.1_Missense_Mutation_p.G1323V|MADD_ENST00000406482.1_Missense_Mutation_p.G1323V|MADD_ENST00000342922.4_Missense_Mutation_p.G1366V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CATCAGAATGGACGCGATCTC	0.468																																						dbGAP											0													96.0	90.0	92.0					11																	47336775		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4274G>T	11.37:g.47336775G>T	ENSP00000310933:p.Gly1425Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G1425V	ENST00000311027.5	37	c.4274	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839359	0.91117	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.63255	2.43;2.26;2.28;2.39;2.37;2.27;2.29;2.38;2.43;-0.03	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.999;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.948;0.948;1.0;0.977;0.977;0.977;1.0;1.0;1.0;1.0	T	0.81011	-0.1126	10	0.87932	D	0	-11.4113	18.9415	0.92607	0.0:0.0:1.0:0.0	.	235;1319;1319;1425;1323;1323;1323;1386;1343;1425;1366	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	1366;1323;1323;1323;1386;1425;1343;1319;1425;1365;235	ENSP00000343902:G1366V;ENSP00000385585:G1323V;ENSP00000384435:G1323V;ENSP00000304505:G1386V;ENSP00000310933:G1425V;ENSP00000384204:G1343V;ENSP00000378753:G1319V;ENSP00000378745:G1425V;ENSP00000384287:G1365V;ENSP00000384483:G235V	ENSP00000310933:G1425V	G	+	2	0	MADD	47293351	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.305000	0.72805	2.453000	0.82957	0.563000	0.77884	GGA	MADD	-	NULL	ENSG00000110514		0.468	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	92	0.00	0	G			47336775	47336775	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	missense	88	38.89	56	SNP	1.000	T
MAMSTR	284358	genome.wustl.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G	rs373516785		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.H163fs	ENST00000318083.6	37	c.486_485	CCDS46137.1	19																																																																																			MAMSTR	-	NULL	ENSG00000176909		0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMSTR	HGNC	protein_coding	OTTHUMT00000466179.1	30	0.00	0	-	NM_182574		49218105	49218106	-1	no_errors	ENST00000318083	ensembl	human	known	69_37n	frame_shift_ins	30	11.76	4	INS	0.043:0.036	G
MAP1A	4130	genome.wustl.edu	37	15	43814046	43814046	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr15:43814046G>C	ENST00000300231.5	+	4	825	c.375G>C	c.(373-375)aaG>aaC	p.K125N	MAP1A_ENST00000399453.1_Missense_Mutation_p.K125N|MAP1A_ENST00000382031.1_Missense_Mutation_p.K363N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	125					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACTGGGTGAAGAACCTTATCT	0.552																																						dbGAP											0													132.0	135.0	134.0					15																	43814046		2031	4196	6227	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.375G>C	15.37:g.43814046G>C	ENSP00000300231:p.Lys125Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.K125N	ENST00000300231.5	37	c.375	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358034	0.24598	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.27720	1.65;1.65;1.65	5.1	4.19	0.49359	.	.	.	.	.	T	0.56124	0.1964	M	0.84082	2.675	0.52501	D	0.999958	D	0.71674	0.998	D	0.72075	0.976	T	0.62586	-0.6823	9	0.87932	D	0	-19.1756	11.7345	0.51757	0.1467:0.0:0.8533:0.0	.	125	P78559	MAP1A_HUMAN	N	363;125;125;125	ENSP00000371462:K363N;ENSP00000382380:K125N;ENSP00000300231:K125N	ENSP00000300231:K125N	K	+	3	2	MAP1A	41601338	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.224000	0.42945	1.392000	0.46585	0.561000	0.74099	AAG	MAP1A	-	NULL	ENSG00000166963		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	39	0.00	0	G	NM_002373		43814046	43814046	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	1.000	C
MAP6	4135	genome.wustl.edu	37	11	75298782	75298782	+	Silent	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr11:75298782G>C	ENST00000304771.3	-	4	2514	c.1764C>G	c.(1762-1764)gtC>gtG	p.V588V	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Silent_p.V259V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	588	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CAGATGCTGAGACCATGGGAC	0.522																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	dbGAP											0													156.0	141.0	146.0					11																	75298782		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1764C>G	11.37:g.75298782G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	pfam_STOP/FAM154	p.V588	ENST00000304771.3	37	c.1764	CCDS31641.1	11																																																																																			MAP6	-	NULL	ENSG00000171533		0.522	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	HGNC	protein_coding	OTTHUMT00000383527.1	259	0.00	0	G	NM_033063		75298782	75298782	-1	no_errors	ENST00000304771	ensembl	human	known	69_37n	silent	124	39.81	82	SNP	0.000	C
MMP25	64386	genome.wustl.edu	37	16	3107152	3107152	+	Silent	SNP	C	C	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr16:3107152C>A	ENST00000336577.4	+	5	1017	c.780C>A	c.(778-780)ggC>ggA	p.G260G	RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	267					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GTCCGGTGGGCGACCCTGACA	0.622																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	dbGAP											0													118.0	122.0	121.0					16																	3107152		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.780C>A	16.37:g.3107152C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96F04|Q96TE2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G260	ENST00000336577.4	37	c.780	CCDS10492.1	16																																																																																			MMP25	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom	ENSG00000008516		0.622	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1	121	0.00	0	C	NM_022468		3107152	3107152	+1	no_errors	ENST00000336577	ensembl	human	known	69_37n	silent	138	27.75	53	SNP	0.448	A
MYCBP2	23077	genome.wustl.edu	37	13	77862348	77862348	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr13:77862348G>C	ENST00000544440.2	-	3	445	c.428C>G	c.(427-429)tCa>tGa	p.S143*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.S143*|MYCBP2_ENST00000360084.5_De_novo_Start_OutOfFrame|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.S181*					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCACTATCTGATTCTCCACT	0.413																																						dbGAP											0													155.0	163.0	160.0					13																	77862348		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.428C>G	13.37:g.77862348G>C	ENSP00000444596:p.Ser143*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.S181*	ENST00000544440.2	37	c.542		13	.	.	.	.	.	.	.	.	.	.	G	38	6.660549	0.97743	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	143;181;143	.	ENSP00000349892:S143X	S	-	2	0	MYCBP2	76760349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	TCA	MYCBP2	-	NULL	ENSG00000005810		0.413	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	205	0.00	0	G	NM_015057		77862348	77862348	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	nonsense	60	65.92	118	SNP	1.000	C
MYH7	4625	genome.wustl.edu	37	14	23884326	23884326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr14:23884326G>A	ENST00000355349.3	-	37	5599	c.5437C>T	c.(5437-5439)Cag>Tag	p.Q1813*	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1813					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCTTCTGCAGCTGCTTC	0.622																																						dbGAP											0													79.0	80.0	79.0					14																	23884326		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5437C>T	14.37:g.23884326G>A	ENSP00000347507:p.Gln1813*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1813*	ENST00000355349.3	37	c.5437	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	47	13.553452	0.99749	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.075	0.93158	0.0:0.0:1.0:0.0	.	.	.	.	X	1813;1818	.	ENSP00000347507:Q1813X	Q	-	1	0	MYH7	22954166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.595000	0.82710	2.750000	0.94351	0.563000	0.77884	CAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	83	0.00	0	G	NM_000257		23884326	23884326	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	nonsense	42	47.56	39	SNP	1.000	A
MYO1E	4643	genome.wustl.edu	37	15	59470680	59470680	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr15:59470680C>A	ENST00000288235.4	-	19	2360	c.1961G>T	c.(1960-1962)gGc>gTc	p.G654V		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	654	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GTGCAGGACGCCTTGCTTCTC	0.577																																						dbGAP											0													108.0	89.0	96.0					15																	59470680		2191	4291	6482	-	-	-	SO:0001583	missense	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1961G>T	15.37:g.59470680C>A	ENSP00000288235:p.Gly654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.G654V	ENST00000288235.4	37	c.1961	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826017	0.90955	.	.	ENSG00000157483	ENST00000288235	D	0.94897	-3.55	4.92	4.92	0.64577	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97440	1.0021	10	0.87932	D	0	.	18.3153	0.90218	0.0:1.0:0.0:0.0	.	654	Q12965	MYO1E_HUMAN	V	654	ENSP00000288235:G654V	ENSP00000288235:G654V	G	-	2	0	MYO1E	57257972	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.651000	0.83577	2.563000	0.86464	0.655000	0.94253	GGC	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000157483		0.577	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	17	0.00	0	C	NM_004998		59470680	59470680	-1	no_errors	ENST00000288235	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	1.000	A
NAT6	24142	genome.wustl.edu	37	3	50334919	50334919	+	5'UTR	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr3:50334919G>A	ENST00000443842.1	-	0	783				HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_5'UTR|NAT6_ENST00000354862.4_Silent_p.T14T|NAT6_ENST00000443094.2_5'UTR|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Intron			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)							cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTAGTGTAGGGGTCAGCTTGG	0.602																																						dbGAP											0													72.0	73.0	73.0					3																	50334919		2096	4236	6332	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.-25C>T	3.37:g.50334919G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q93014	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.T14	ENST00000443842.1	37	c.42	CCDS56258.1	3																																																																																			NAT6	-	NULL	ENSG00000243477		0.602	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NAT6	HGNC	protein_coding	OTTHUMT00000346681.1	30	0.00	0	G	NM_012191		50334919	50334919	-1	no_errors	ENST00000354862	ensembl	human	known	69_37n	silent	8	50.00	8	SNP	0.005	A
OR13C2	392376	genome.wustl.edu	37	9	107367295	107367295	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr9:107367295A>C	ENST00000542196.1	-	1	656	c.614T>G	c.(613-615)tTg>tGg	p.L205W		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CAATATGAACAATGTTGTGGC	0.403																																						dbGAP											0													145.0	138.0	140.0					9																	107367295		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.614T>G	9.37:g.107367295A>C	ENSP00000438815:p.Leu205Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L205W	ENST00000542196.1	37	c.614	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	A	9.614	1.132168	0.21041	.	.	ENSG00000257019	ENST00000542196	T	0.44881	0.91	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.297037	0.18045	U	0.153476	T	0.63200	0.2491	M	0.85710	2.77	0.09310	N	1	D	0.59767	0.986	D	0.64687	0.928	T	0.55055	-0.8200	10	0.87932	D	0	.	9.8191	0.40871	1.0:0.0:0.0:0.0	.	205	Q8NGS9	O13C2_HUMAN	W	205	ENSP00000438815:L205W	ENSP00000438815:L205W	L	-	2	0	OR13C2	106407116	0.011000	0.17503	0.004000	0.12327	0.097000	0.18754	2.625000	0.46452	1.400000	0.46741	0.379000	0.24179	TTG	OR13C2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000257019		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	479	0.00	0	A	NM_001004481		107367295	107367295	-1	no_errors	ENST00000542196	ensembl	human	known	69_37n	missense	476	12.01	65	SNP	0.020	C
PABPC4	8761	genome.wustl.edu	37	1	40028055	40028055	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:40028055C>G	ENST00000372857.3	-	13	2446	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.E568Q|PABPC4_ENST00000372856.3_Missense_Mutation_p.E539Q|PABPC4_ENST00000372862.3_Missense_Mutation_p.E523Q	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	552	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCAGTGGCTCCTGCCCCTGC	0.607																																						dbGAP											0													40.0	43.0	42.0					1																	40028055		2201	4299	6500	-	-	-	SO:0001583	missense	0			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1654G>C	1.37:g.40028055C>G	ENSP00000361948:p.Glu552Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.E568Q	ENST00000372857.3	37	c.1702	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.300278|5.300278	0.95574|0.95574	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856|ENST00000437136	T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Polyadenylate-binding protein/Hyperplastic disc protein (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73984|0.73984	0.3657|0.3657	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	D;P;P|.	0.57899|.	0.981;0.891;0.813|.	P;P;P|.	0.58820|.	0.846;0.65;0.688|.	T|T	0.72023|0.72023	-0.4415|-0.4415	10|5	0.52906|.	T|.	0.07|.	.|.	19.207|19.207	0.93734|0.93734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	552;539;568|.	Q13310;Q13310-2;Q4VC03|.	PABP4_HUMAN;.;.|.	Q|S	523;568;552;539|106	ENSP00000361953:E523Q;ENSP00000361949:E568Q;ENSP00000361948:E552Q;ENSP00000361947:E539Q|.	ENSP00000361947:E539Q|.	E|R	-|-	1|3	0|2	PABPC4|PABPC4	39800642|39800642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	GAG|AGG	PABPC4	-	superfamily_PABP_HYD,tigrfam_PABP_1234	ENSG00000090621		0.607	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	43	0.00	0	C	NM_001135653		40028055	40028055	-1	no_errors	ENST00000372858	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	G
OR6N1	128372	genome.wustl.edu	37	1	158735696	158735696	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:158735696A>T	ENST00000335094.2	-	1	796	c.777T>A	c.(775-777)taT>taA	p.Y259*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCAGCTGCACATACATGGAAA	0.537																																						dbGAP											0													181.0	169.0	173.0					1																	158735696		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.777T>A	1.37:g.158735696A>T	ENSP00000335535:p.Tyr259*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUU8|Q96R35	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y259*	ENST00000335094.2	37	c.777	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739324	0.49045	.	.	ENSG00000197403	ENST00000335094	.	.	.	4.64	0.553	0.17235	.	0.000000	0.41001	D	0.000971	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6779	7.6651	0.28426	0.6558:0.0:0.3442:0.0	.	.	.	.	X	259	.	ENSP00000335535:Y259X	Y	-	3	2	OR6N1	157002320	0.000000	0.05858	0.998000	0.56505	0.483000	0.33249	-0.582000	0.05814	-0.082000	0.12640	-0.408000	0.06270	TAT	OR6N1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197403		0.537	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	386	0.00	0	A	NM_001005185		158735696	158735696	-1	no_errors	ENST00000335094	ensembl	human	known	69_37n	nonsense	367	36.72	213	SNP	0.985	T
PANX3	116337	genome.wustl.edu	37	11	124489690	124489690	+	Silent	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr11:124489690G>A	ENST00000284288.2	+	4	1105	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	346					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTAGCTGGCTGAGTGTCTTAT	0.428																																						dbGAP											0													155.0	135.0	141.0					11																	124489690		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.1038G>A	11.37:g.124489690G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Innexin,pfscan_Innexin	p.L346	ENST00000284288.2	37	c.1038	CCDS8447.1	11																																																																																			PANX3	-	pfscan_Innexin	ENSG00000154143		0.428	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	182	0.00	0	G			124489690	124489690	+1	no_errors	ENST00000284288	ensembl	human	known	69_37n	silent	39	71.94	100	SNP	1.000	A
PIGO	84720	genome.wustl.edu	37	9	35091692	35091693	+	Frame_Shift_Ins	INS	-	-	G	rs148341577		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr9:35091692_35091693insG	ENST00000378617.3	-	7	2585_2586	c.2191_2192insC	c.(2191-2193)cgtfs	p.R731fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.R731fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R731fs*17(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACCCGGAGACGGGGGGGAGCC	0.658																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2192dupC	9.37:g.35091699_35091699dupG	ENSP00000367880:p.Arg731fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R731fs	ENST00000378617.3	37	c.2192_2191	CCDS6575.1	9																																																																																			PIGO	-	NULL	ENSG00000165282		0.658	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	33	0.00	0	-	NM_032634		35091692	35091693	-1	no_errors	ENST00000341666	ensembl	human	known	69_37n	frame_shift_ins	22	15.38	4	INS	0.530:0.180	G
PKHD1L1	93035	genome.wustl.edu	37	8	110503282	110503282	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr8:110503282G>C	ENST00000378402.5	+	61	10170	c.10066G>C	c.(10066-10068)Gat>Cat	p.D3356H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3356					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D3358H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTGGGACAGATGGATTGGA	0.388										HNSCC(38;0.096)																												dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											131.0	125.0	127.0					8																	110503282		1893	4122	6015	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10066G>C	8.37:g.110503282G>C	ENSP00000367655:p.Asp3356His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D3356H	ENST00000378402.5	37	c.10066	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332782	0.41297	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.81163	-1.46;-1.46	5.41	4.52	0.55395	Pectin lyase fold/virulence factor (1);	0.184422	0.46145	D	0.000311	T	0.64349	0.2590	N	0.12527	0.23	0.34090	D	0.660577	B	0.20368	0.044	B	0.23275	0.045	T	0.67538	-0.5645	10	0.46703	T	0.11	.	8.9433	0.35742	0.1718:0.0:0.8282:0.0	.	3356	Q86WI1	PKHL1_HUMAN	H	3356;284	ENSP00000367655:D3356H;ENSP00000437376:D284H	ENSP00000367655:D3356H	D	+	1	0	PKHD1L1	110572458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.478000	0.53158	1.393000	0.46605	0.563000	0.77884	GAT	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000205038		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	152	0.00	0	G	NM_177531		110503282	110503282	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	172	14.85	30	SNP	1.000	C
PRAMEF2	65122	genome.wustl.edu	37	1	12920065	12920065	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:12920065C>T	ENST00000240189.2	+	3	892	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	269					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGAACACCTCCAGTTGCT	0.463																																						dbGAP											0													92.0	93.0	93.0					1																	12920065		2203	4294	6497	-	-	-	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.805C>T	1.37:g.12920065C>T	ENSP00000240189:p.Leu269Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L269F	ENST00000240189.2	37	c.805	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212601	0.22289	.	.	ENSG00000120952	ENST00000240189	T	0.03920	3.76	0.842	0.842	0.18927	.	0.000000	0.64402	D	0.000004	T	0.15132	0.0365	M	0.78637	2.42	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.01884	-1.1254	10	0.59425	D	0.04	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	269	O60811	PRAM2_HUMAN	F	269	ENSP00000240189:L269F	ENSP00000240189:L269F	L	+	1	0	PRAMEF2	12842652	0.003000	0.15002	0.010000	0.14722	0.019000	0.09904	0.061000	0.14366	0.759000	0.33084	0.194000	0.17425	CTC	PRAMEF2	-	NULL	ENSG00000120952		0.463	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	253	0.00	0	C	NM_023014		12920065	12920065	+1	no_errors	ENST00000240189	ensembl	human	known	69_37n	missense	308	47.71	281	SNP	0.011	T
PRUNE2	158471	genome.wustl.edu	37	9	79324701	79324701	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr9:79324701T>A	ENST00000376718.3	-	8	2612	c.2489A>T	c.(2488-2490)gAc>gTc	p.D830V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D471V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	830					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						CTCATTCGGGTCCCTAACAGA	0.443																																						dbGAP											0													65.0	60.0	61.0					9																	79324701		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.2489A>T	9.37:g.79324701T>A	ENSP00000365908:p.Asp830Val	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.D471V	ENST00000376718.3	37	c.1412	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	T	8.353	0.831400	0.16820	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.49432	0.79;0.78	5.41	5.41	0.78517	.	0.000000	0.48767	D	0.000173	T	0.32971	0.0847	L	0.32530	0.975	0.80722	D	1	B	0.32918	0.39	B	0.27380	0.079	T	0.14643	-1.0465	10	0.28530	T	0.3	-8.6329	10.034	0.42118	0.16:0.0:0.0:0.84	.	830	Q8WUY3	PRUN2_HUMAN	V	830;471;829	ENSP00000365908:D830V;ENSP00000397425:D471V	ENSP00000365908:D830V	D	-	2	0	PRUNE2	78514521	1.000000	0.71417	0.999000	0.59377	0.214000	0.24535	1.901000	0.39838	2.061000	0.61500	0.379000	0.24179	GAC	PRUNE2	-	NULL	ENSG00000106772		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	81	0.00	0	T	NM_138818		79324701	79324701	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	58	48.21	54	SNP	0.957	A
PTPRF	5792	genome.wustl.edu	37	1	44085063	44085063	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:44085063G>A	ENST00000359947.4	+	28	5091	c.4751G>A	c.(4750-4752)cGa>cAa	p.R1584Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R943Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1575Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1584Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1575Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1584	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCTGCATGCGATCACAGAGG	0.607																																						dbGAP											0													81.0	73.0	76.0					1																	44085063		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4751G>A	1.37:g.44085063G>A	ENSP00000353030:p.Arg1584Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.R1584Q	ENST00000359947.4	37	c.4751	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.267586|5.267586	0.95399|0.95399	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|D;D;D;D;D;D	.|0.91237	.|-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.000000	.|0.30584	.|N	.|0.009306	D|D	0.97508|0.97508	0.9184|0.9184	H|H	0.98594|0.98594	4.275|4.275	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D	.|0.97110	.|0.996;0.999;1.0;0.97;0.999	D|D	0.98810|0.98810	1.0743|1.0743	5|10	.|0.87932	.|D	.|0	.|.	19.2372|19.2372	0.93866|0.93866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1229;943;1161;1575;1584	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	N|Q	1230|1584;1575;1584;1575;943;656	.|ENSP00000353030:R1584Q;ENSP00000398822:R1575Q;ENSP00000361491:R1584Q;ENSP00000361490:R1575Q;ENSP00000387885:R943Q;ENSP00000361484:R656Q	.|ENSP00000353030:R1584Q	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43857650|43857650	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.995000|0.995000	0.86356|0.86356	9.807000|9.807000	0.99171|0.99171	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GAT|CGA	PTPRF	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000142949		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	42	0.00	0	G			44085063	44085063	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	A
PTPN22	26191	genome.wustl.edu	37	1	114372636	114372636	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:114372636C>A	ENST00000359785.5	-	17	2204	c.2069G>T	c.(2068-2070)cGt>cTt	p.R690L	PTPN22_ENST00000525799.1_Missense_Mutation_p.R563L|RP5-1073O3.2_ENST00000448199.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.R635L|PTPN22_ENST00000538253.1_Missense_Mutation_p.R446L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R690L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	690					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.R690H(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGAAGAACGATCTTGATG	0.358																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											63.0	66.0	65.0					1																	114372636		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2069G>T	1.37:g.114372636C>A	ENSP00000352833:p.Arg690Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R690L	ENST00000359785.5	37	c.2069	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453389	0.63290	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799	T;T;T;T;T	0.34859	3.6;3.25;1.34;3.45;2.88	6.03	1.66	0.24008	.	0.549745	0.17914	N	0.157724	T	0.28101	0.0693	M	0.72118	2.19	0.23003	N	0.99845	P;D;P;P;D	0.58620	0.891;0.983;0.883;0.719;0.977	P;P;P;B;P	0.53954	0.616;0.68;0.478;0.14;0.738	T	0.10428	-1.0630	10	0.34782	T	0.22	.	7.7699	0.29001	0.0:0.6378:0.2388:0.1235	.	446;563;690;635;690	F5H2S8;E9PPI1;E9PMT0;E9PLD8;Q9Y2R2	.;.;.;.;PTN22_HUMAN	L	690;635;446;690;563	ENSP00000352833:R690L;ENSP00000435176:R635L;ENSP00000439372:R446L;ENSP00000388229:R690L;ENSP00000432674:R563L	ENSP00000352833:R690L	R	-	2	0	PTPN22	114174159	0.531000	0.26338	0.030000	0.17652	0.982000	0.71751	0.045000	0.14013	0.052000	0.16007	0.655000	0.94253	CGT	PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22	ENSG00000134242		0.358	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	93	0.00	0	C	NM_015967		114372636	114372636	-1	no_errors	ENST00000359785	ensembl	human	known	69_37n	missense	97	39.75	64	SNP	0.574	A
RYR3	6263	genome.wustl.edu	37	15	33936689	33936689	+	Missense_Mutation	SNP	T	T	C	rs547226291		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr15:33936689T>C	ENST00000389232.4	+	28	3804	c.3734T>C	c.(3733-3735)gTc>gCc	p.V1245A	RYR3_ENST00000415757.3_Missense_Mutation_p.V1245A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1245	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGACGTTTGTCAACGTGCCA	0.507													T|||	1	0.000199681	0.0	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													73.0	73.0	73.0					15																	33936689		1993	4161	6154	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3734T>C	15.37:g.33936689T>C	ENSP00000373884:p.Val1245Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1245A	ENST00000389232.4	37	c.3734	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999062	0.35226	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96396	-4.0;-4.0	4.82	4.82	0.62117	.	0.077698	0.51477	D	0.000088	D	0.93278	0.7858	L	0.44542	1.39	0.58432	D	0.999998	P;B	0.41131	0.739;0.435	B;B	0.40782	0.34;0.115	D	0.91989	0.5601	10	0.10111	T	0.7	.	14.8338	0.70166	0.0:0.0:0.0:1.0	.	1245;1245	Q15413-2;Q15413	.;RYR3_HUMAN	A	1245	ENSP00000373884:V1245A;ENSP00000399610:V1245A	ENSP00000354735:V1245A	V	+	2	0	RYR3	31723981	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.735000	0.84939	2.145000	0.66743	0.460000	0.39030	GTC	RYR3	-	NULL	ENSG00000198838		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	33	0.00	0	T			33936689	33936689	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	38	41.54	27	SNP	1.000	C
SALL4	57167	genome.wustl.edu	37	20	50407393	50407393	+	Silent	SNP	C	C	T	rs566199071		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr20:50407393C>T	ENST00000217086.4	-	2	1740	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	543					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGACCCTGGCTCAGGGGTCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19206	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	112.0	114.0					20																	50407393		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1629G>A	20.37:g.50407393C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E543	ENST00000217086.4	37	c.1629	CCDS13438.1	20																																																																																			SALL4	-	NULL	ENSG00000101115		0.557	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	67	0.00	0	C			50407393	50407393	-1	no_errors	ENST00000217086	ensembl	human	known	69_37n	silent	62	38.61	39	SNP	1.000	T
SCYL2	55681	genome.wustl.edu	37	12	100720449	100720449	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr12:100720449A>G	ENST00000360820.2	+	12	1996	c.1559A>G	c.(1558-1560)gAt>gGt	p.D520G		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	520					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GAATACTTGGATAAGTGGTTT	0.333																																						dbGAP											0													107.0	101.0	103.0					12																	100720449		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1559A>G	12.37:g.100720449A>G	ENSP00000354061:p.Asp520Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.D520G	ENST00000360820.2	37	c.1559	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915938	0.92178	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.28454	1.61;1.61	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64445	-0.6406	10	0.39692	T	0.17	.	15.6841	0.77396	1.0:0.0:0.0:0.0	.	520	Q6P3W7	SCYL2_HUMAN	G	520	ENSP00000448366:D520G;ENSP00000354061:D520G	ENSP00000354061:D520G	D	+	2	0	SCYL2	99244580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.155000	0.94700	2.162000	0.67917	0.460000	0.39030	GAT	SCYL2	-	superfamily_ARM-type_fold	ENSG00000136021		0.333	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	60	0.00	0	A	NM_017988		100720449	100720449	+1	no_errors	ENST00000360820	ensembl	human	known	69_37n	missense	72	31.43	33	SNP	1.000	G
SPTBN2	6712	genome.wustl.edu	37	11	66455032	66455032	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr11:66455032C>G	ENST00000533211.1	-	35	6919	c.6588G>C	c.(6586-6588)caG>caC	p.Q2196H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Q2196H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Q2196H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2196					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TAGACCTGCTCTGGGGCATTG	0.692																																						dbGAP											0													38.0	45.0	43.0					11																	66455032		2198	4291	6489	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6588G>C	11.37:g.66455032C>G	ENSP00000432568:p.Gln2196His	Somatic		WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.Q2196H	ENST00000533211.1	37	c.6588	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297669	0.40694	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.70749	-0.5;-0.5;-0.51	5.04	5.04	0.67666	.	0.151860	0.46145	D	0.000301	T	0.58623	0.2135	N	0.19112	0.55	0.37148	D	0.902002	P	0.42248	0.774	B	0.41917	0.37	T	0.66630	-0.5875	10	0.45353	T	0.12	.	13.6222	0.62144	0.0:0.8434:0.1565:0.0	.	2196	O15020	SPTN2_HUMAN	H	2196;2196;2196;740	ENSP00000432568:Q2196H;ENSP00000311489:Q2196H;ENSP00000433593:Q2196H	ENSP00000311489:Q2196H	Q	-	3	2	SPTBN2	66211608	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	2.786000	0.47790	2.629000	0.89072	0.655000	0.94253	CAG	SPTBN2	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000173898		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	27	0.00	0	C	NM_006946		66455032	66455032	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	12	67.57	25	SNP	1.000	G
TAF5L	27097	genome.wustl.edu	37	1	229750159	229750159	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:229750159T>G	ENST00000366676.1	-	1	70	c.71A>C	c.(70-72)gAc>gCc	p.D24A	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366675.3_Missense_Mutation_p.D24A|TAF5L_ENST00000366674.1_Missense_Mutation_p.D24A|TAF5L_ENST00000258281.2_Missense_Mutation_p.D24A			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	24					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ACCATCTGAGTCCACGTACTG	0.567																																						dbGAP											0													115.0	98.0	104.0					1																	229750159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.71A>C	1.37:g.229750159T>G	ENSP00000355636:p.Asp24Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D24A	ENST00000366676.1	37	c.71	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725397	0.68959	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.60171	0.21;0.21;0.77	5.77	5.77	0.91146	.	0.043759	0.85682	D	0.000000	T	0.65396	0.2687	M	0.61703	1.905	0.80722	D	1	P;B	0.51351	0.944;0.437	P;B	0.50825	0.651;0.1	T	0.65631	-0.6121	9	.	.	.	-20.4111	16.1022	0.81184	0.0:0.0:0.0:1.0	.	24;24	O75529-2;O75529	.;TAF5L_HUMAN	A	24	ENSP00000355636:D24A;ENSP00000258281:D24A;ENSP00000355635:D24A	.	D	-	2	0	TAF5L	227816782	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.661000	0.83786	2.205000	0.71048	0.460000	0.39030	GAC	TAF5L	-	NULL	ENSG00000135801		0.567	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	76	0.00	0	T	NM_014409		229750159	229750159	-1	no_errors	ENST00000258281	ensembl	human	known	69_37n	missense	146	24.62	48	SNP	1.000	G
TARS	6897	genome.wustl.edu	37	5	33455166	33455166	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr5:33455166A>C	ENST00000265112.3	+	5	881	c.570A>C	c.(568-570)gaA>gaC	p.E190D	TARS_ENST00000502553.1_Missense_Mutation_p.E190D|TARS_ENST00000414361.2_Missense_Mutation_p.E69D|TARS_ENST00000541634.1_Missense_Mutation_p.E86D|TARS_ENST00000455217.2_Missense_Mutation_p.E223D	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	190					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTACCTCGAAGAAGGGTAAG	0.388																																						dbGAP											0													80.0	75.0	76.0					5																	33455166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.570A>C	5.37:g.33455166A>C	ENSP00000265112:p.Glu190Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.E190D	ENST00000265112.3	37	c.570	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337578	0.24253	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.41065	1.01;1.01;1.02	5.86	-2.38	0.06622	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.136927	0.64402	N	0.000003	T	0.19446	0.0467	N	0.17564	0.495	0.41376	D	0.987521	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.14578	0.002;0.008;0.011;0.008	T	0.09143	-1.0688	10	0.16896	T	0.51	0.0583	7.3871	0.26888	0.4569:0.0:0.4301:0.113	.	69;223;86;190	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	D	190;190;86;223;69	ENSP00000424387:E190D;ENSP00000265112:E190D;ENSP00000387710:E223D	ENSP00000265112:E190D	E	+	3	2	TARS	33490923	0.992000	0.36948	0.990000	0.47175	0.686000	0.39977	0.241000	0.18065	-0.367000	0.08052	-0.462000	0.05337	GAA	TARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.388	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	56	0.00	0	A	NM_152295		33455166	33455166	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	missense	61	37.76	37	SNP	0.620	C
TEP1	7011	genome.wustl.edu	37	14	20872808	20872808	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr14:20872808G>C	ENST00000262715.5	-	5	1034	c.994C>G	c.(994-996)Ctg>Gtg	p.L332V	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	332	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCAGAAGGCAGCTGGACAATG	0.537																																						dbGAP											0													75.0	68.0	71.0					14																	20872808		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.994C>G	14.37:g.20872808G>C	ENSP00000262715:p.Leu332Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L332V	ENST00000262715.5	37	c.994	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967101	0.74131	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.14391	2.51	5.55	2.79	0.32731	TROVE (2);	0.000000	0.64402	D	0.000006	T	0.35941	0.0949	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08764	-1.0706	10	0.87932	D	0	-13.6964	9.9734	0.41768	0.2214:0.0:0.7786:0.0	.	332	Q99973	TEP1_HUMAN	V	332	ENSP00000262715:L332V	ENSP00000262715:L332V	L	-	1	2	TEP1	19942648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.540000	0.53611	0.477000	0.27464	-0.140000	0.14226	CTG	TEP1	-	pfam_TROVE,pfscan_TROVE	ENSG00000129566		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	75	0.00	0	G	NM_007110		20872808	20872808	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	62	35.42	34	SNP	1.000	C
TET2	54790	genome.wustl.edu	37	4	106155363	106155363	+	Silent	SNP	T	T	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr4:106155363T>C	ENST00000540549.1	+	3	1124	c.264T>C	c.(262-264)tgT>tgC	p.C88C	TET2_ENST00000394764.1_Silent_p.C88C|TET2_ENST00000413648.2_Silent_p.C88C|TET2_ENST00000545826.1_Silent_p.C88C|TET2_ENST00000513237.1_Silent_p.C109C|TET2_ENST00000380013.4_Silent_p.C88C|TET2_ENST00000305737.2_Silent_p.C88C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	88					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTCCAAGTGTTTGCAAAATG	0.398			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													95.0	90.0	91.0					4																	106155363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.264T>C	4.37:g.106155363T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.C88	ENST00000540549.1	37	c.264	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.398	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	292	0.00	0	T	NM_017628		106155363	106155363	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	silent	292	39.04	187	SNP	0.017	C
TKTL1	8277	genome.wustl.edu	37	X	153524215	153524215	+	Start_Codon_SNP	SNP	G	G	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chrX:153524215G>T	ENST00000369915.3	+	1	192	c.3G>T	c.(1-3)atG>atT	p.M1I	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	1					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGACTAATGGCGGATGCTG	0.592																																						dbGAP											0													78.0	70.0	73.0					X																	153524215		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.3G>T	X.37:g.153524215G>T	ENSP00000358931:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.M1I	ENST00000369915.3	37	c.3	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646404	0.47258	.	.	ENSG00000007350	ENST00000369915	T	0.27890	1.64	3.79	3.79	0.43588	.	0.000000	0.40818	N	0.001011	T	0.26048	0.0635	.	.	.	0.80722	D	1	B;B	0.18461	0.028;0.028	B;B	0.11329	0.006;0.006	T	0.11108	-1.0601	9	0.62326	D	0.03	.	12.4983	0.55942	0.0:0.0:1.0:0.0	.	1;1	B7Z7I0;P51854	.;TKTL1_HUMAN	I	1	ENSP00000358931:M1I	ENSP00000358931:M1I	M	+	3	0	TKTL1	153177409	0.986000	0.35501	0.123000	0.21794	0.030000	0.12068	4.184000	0.58323	1.821000	0.53095	0.529000	0.55759	ATG	TKTL1	-	NULL	ENSG00000007350		0.592	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	32	0.00	0	G	NM_012253	Missense_Mutation	153524215	153524215	+1	no_errors	ENST00000369915	ensembl	human	known	69_37n	missense	35	44.44	28	SNP	0.295	T
TNPO1	3842	genome.wustl.edu	37	5	72196887	72196887	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr5:72196887G>C	ENST00000337273.5	+	22	2927	c.2501G>C	c.(2500-2502)aGt>aCt	p.S834T	TNPO1_ENST00000523768.1_Missense_Mutation_p.S784T|TNPO1_ENST00000454282.1_Missense_Mutation_p.S784T|TNPO1_ENST00000506351.2_Missense_Mutation_p.S826T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	834					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GTGAATCCCAGTGGCGTAATC	0.318																																						dbGAP											0													85.0	82.0	83.0					5																	72196887		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2501G>C	5.37:g.72196887G>C	ENSP00000336712:p.Ser834Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S834T	ENST00000337273.5	37	c.2501	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476905	0.44044	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.086488	0.85682	D	0.000000	T	0.50429	0.1615	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.40590	-0.9555	10	0.29301	T	0.29	-15.4921	15.5638	0.76273	0.0679:0.0:0.9321:0.0	.	784;834	Q92973-3;Q92973	.;TNPO1_HUMAN	T	834;784;784;826;345	ENSP00000336712:S834T;ENSP00000398524:S784T;ENSP00000428899:S784T;ENSP00000425118:S826T	ENSP00000336712:S834T	S	+	2	0	TNPO1	72232643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.362000	0.73077	2.902000	0.99343	0.650000	0.86243	AGT	TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.318	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	65	0.00	0	G	NM_002270		72196887	72196887	+1	no_errors	ENST00000337273	ensembl	human	known	69_37n	missense	77	32.46	37	SNP	1.000	C
TNS1	7145	genome.wustl.edu	37	2	218669195	218669195	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr2:218669195C>A	ENST00000171887.4	-	33	5647	c.5195G>T	c.(5194-5196)gGc>gTc	p.G1732V	TNS1_ENST00000430930.1_Missense_Mutation_p.G1711V|TNS1_ENST00000419504.1_Missense_Mutation_p.G1718V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1732					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTCTTTTGGCCGGCATTCAG	0.602																																						dbGAP											0													106.0	102.0	103.0					2																	218669195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.5195G>T	2.37:g.218669195C>A	ENSP00000171887:p.Gly1732Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G1732V	ENST00000171887.4	37	c.5195	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428491	0.43122	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.72	4.72	0.59763	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.254430	0.39020	N	0.001498	T	0.43656	0.1257	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.97	D;D;P	0.73380	0.98;0.953;0.753	T	0.14980	-1.0453	10	0.35671	T	0.21	.	14.4095	0.67106	0.0:0.8517:0.1483:0.0	.	1732;1711;1718	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	V	1732;870;1718;1711	ENSP00000171887:G1732V;ENSP00000394171:G870V;ENSP00000408724:G1718V;ENSP00000406016:G1711V	ENSP00000171887:G1732V	G	-	2	0	TNS1	218377440	0.979000	0.34478	0.998000	0.56505	0.296000	0.27459	2.132000	0.42083	2.450000	0.82876	0.394000	0.25966	GGC	TNS1	-	pfam_PTB,smart_PTyr_interaction_dom	ENSG00000079308		0.602	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	75	0.00	0	C	NM_022648		218669195	218669195	-1	no_errors	ENST00000171887	ensembl	human	known	69_37n	missense	85	33.59	43	SNP	1.000	A
TRAPPC10	7109	genome.wustl.edu	37	21	45483643	45483643	+	Missense_Mutation	SNP	G	G	A	rs537924705		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr21:45483643G>A	ENST00000291574.4	+	7	1190	c.1015G>A	c.(1015-1017)Gtg>Atg	p.V339M		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	339					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCACAACTGCGTGCAGGAACT	0.552																																						dbGAP											0													81.0	83.0	82.0					21																	45483643		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1015G>A	21.37:g.45483643G>A	ENSP00000291574:p.Val339Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.V339M	ENST00000291574.4	37	c.1015	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141278	0.77775	.	.	ENSG00000160218	ENST00000291574	T	0.25085	1.82	5.74	4.86	0.63082	.	0.057900	0.64402	N	0.000002	T	0.33235	0.0856	L	0.41824	1.3	0.58432	D	0.999996	D	0.65815	0.995	P	0.56088	0.791	T	0.03103	-1.1072	10	0.40728	T	0.16	.	11.3917	0.49817	0.1441:0.0:0.8559:0.0	.	339	P48553	TPC10_HUMAN	M	339	ENSP00000291574:V339M	ENSP00000291574:V339M	V	+	1	0	TRAPPC10	44308071	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	6.255000	0.72466	1.422000	0.47177	0.655000	0.94253	GTG	TRAPPC10	-	NULL	ENSG00000160218		0.552	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	98	0.00	0	G	NM_003274		45483643	45483643	+1	no_errors	ENST00000291574	ensembl	human	known	69_37n	missense	60	51.22	63	SNP	1.000	A
TRPM5	29850	genome.wustl.edu	37	11	2433403	2433403	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr11:2433403C>G	ENST00000155858.6	-	16	2444	c.2436G>C	c.(2434-2436)atG>atC	p.M812I	TRPM5_ENST00000528453.1_Missense_Mutation_p.M812I|TRPM5_ENST00000533060.1_Missense_Mutation_p.M812I|TRPM5_ENST00000452833.1_Missense_Mutation_p.M814I	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGATGGCCACCATGTCACACT	0.592																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0													280.0	238.0	252.0					11																	2433403		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2436G>C	11.37:g.2433403C>G	ENSP00000155858:p.Met812Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.M814I	ENST00000155858.6	37	c.2442	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218912	0.22373	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	4.63	4.63	0.57726	Ion transport (1);	0.044787	0.85682	D	0.000000	T	0.47210	0.1433	N	0.16368	0.405	0.50467	D	0.99987	B;B;B	0.19331	0.035;0.035;0.007	B;B;B	0.17722	0.019;0.019;0.016	T	0.39663	-0.9603	10	0.12103	T	0.63	-53.7854	12.7157	0.57113	0.0:0.8343:0.1657:0.0	.	812;814;812	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	I	806;812;814;812;812;812	ENSP00000434383:M806I;ENSP00000155858:M812I;ENSP00000387965:M814I;ENSP00000434121:M812I;ENSP00000436809:M812I	ENSP00000155858:M812I	M	-	3	0	TRPM5	2389979	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	2.791000	0.47829	2.305000	0.77605	0.655000	0.94253	ATG	TRPM5	-	NULL	ENSG00000070985		0.592	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	19	0.00	0	C	NM_014555		2433403	2433403	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	missense	3	55.56	5	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19497282	19497282	+	Missense_Mutation	SNP	G	G	C	rs555728639		TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:19497282G>C	ENST00000375254.3	-	26	3644	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	UBR4_ENST00000375217.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375267.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375226.2_Missense_Mutation_p.S1206C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCACCTGCTAGAGCCAATAGC	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19109	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													102.0	99.0	100.0					1																	19497282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3617C>G	1.37:g.19497282G>C	ENSP00000364403:p.Ser1206Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1206C	ENST00000375254.3	37	c.3617	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638851	0.87760	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	N	0.12746	0.255	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.74144	-0.3760	10	0.52906	T	0.07	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	1206	Q5T4S7	UBR4_HUMAN	C	1206;1206;1206;1206;422	ENSP00000364403:S1206C;ENSP00000364416:S1206C;ENSP00000364365:S1206C;ENSP00000364374:S1206C	ENSP00000364365:S1206C	S	-	2	0	UBR4	19369869	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.447000	0.97595	2.824000	0.97209	0.655000	0.94253	TCT	UBR4	-	NULL	ENSG00000127481		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	357	0.00	0	G	NM_020765		19497282	19497282	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	312	37.35	186	SNP	1.000	C
USP33	23032	genome.wustl.edu	37	1	78187538	78187538	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:78187538G>C	ENST00000370793.1	-	15	2074	c.1728C>G	c.(1726-1728)ttC>ttG	p.F576L	USP33_ENST00000370792.3_Missense_Mutation_p.F568L|USP33_ENST00000357428.1_Missense_Mutation_p.F576L|USP33_ENST00000370794.3_Missense_Mutation_p.F545L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	576	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTCTGGCAAAGAAGGCAGCAA	0.343																																					Melanoma(152;72 1870 11110 26780 42647)	dbGAP											0													51.0	50.0	51.0					1																	78187538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1728C>G	1.37:g.78187538G>C	ENSP00000359829:p.Phe576Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.F576L	ENST00000370793.1	37	c.1728	CCDS678.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.189861|4.189861	0.78789|0.78789	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792|ENST00000481579	T;T;T;T|.	0.34275|.	3.9;1.37;1.37;3.9|.	4.96|4.96	3.81|3.81	0.43845|0.43845	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52108|0.52108	0.1714|0.1714	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.60737|0.60737	-0.7204|-0.7204	10|5	0.87932|.	D|.	0|.	.|.	3.6599|3.6599	0.08234|0.08234	0.3652:0.0:0.6348:0.0|0.3652:0.0:0.6348:0.0	.|.	568;545;576|.	Q8TEY7-3;Q8TEY7-2;Q8TEY7|.	.;.;UBP33_HUMAN|.	L|C	545;576;576;568|181	ENSP00000359830:F545L;ENSP00000359829:F576L;ENSP00000350009:F576L;ENSP00000359828:F568L|.	ENSP00000350009:F576L|.	F|S	-|-	3|2	2|0	USP33|USP33	77960126|77960126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.299000|4.299000	0.59073|0.59073	2.469000|2.469000	0.83416|0.83416	0.655000|0.655000	0.94253|0.94253	TTC|TCT	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000077254		0.343	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	81	0.00	0	G	NM_015017		78187538	78187538	-1	no_errors	ENST00000357428	ensembl	human	known	69_37n	missense	160	10.61	19	SNP	1.000	C
USH2A	7399	genome.wustl.edu	37	1	215916652	215916652	+	Silent	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr1:215916652C>T	ENST00000307340.3	-	59	11801	c.11415G>A	c.(11413-11415)gtG>gtA	p.V3805V	USH2A_ENST00000366943.2_Silent_p.V3805V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3805	Fibronectin type-III 23. {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)		CATTGTACTCCACAGGAATTT	0.408										HNSCC(13;0.011)																												dbGAP											0													107.0	102.0	104.0					1																	215916652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.11415G>A	1.37:g.215916652C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	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.V3805	ENST00000307340.3	37	c.11415	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	92	0.00	0	C	NM_007123		215916652	215916652	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	95	49.20	92	SNP	1.000	T
USP7	7874	genome.wustl.edu	37	16	8988986	8988986	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr16:8988986C>G	ENST00000344836.4	-	28	3139	c.2941G>C	c.(2941-2943)Gac>Cac	p.D981H	USP7_ENST00000381886.4_Missense_Mutation_p.D965H|USP7_ENST00000535863.1_Missense_Mutation_p.D882H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	981					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTGTCTATGTCCACCTGGTCC	0.478																																						dbGAP											0													219.0	207.0	211.0					16																	8988986		2197	4300	6497	-	-	-	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2941G>C	16.37:g.8988986C>G	ENSP00000343535:p.Asp981His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.D981H	ENST00000344836.4	37	c.2941	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337893	0.60963	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07114	3.22;3.22	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.35414	1.06	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.11641	-1.0579	10	0.52906	T	0.07	.	19.6327	0.95717	0.0:1.0:0.0:0.0	.	981;965	Q93009;B7Z815	UBP7_HUMAN;.	H	981;989;882	ENSP00000343535:D981H;ENSP00000443646:D882H	ENSP00000343535:D981H	D	-	1	0	USP7	8896487	1.000000	0.71417	0.968000	0.41197	0.813000	0.45954	7.700000	0.84556	2.646000	0.89796	0.555000	0.69702	GAC	USP7	-	NULL	ENSG00000187555		0.478	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	162	0.00	0	C			8988986	8988986	-1	no_errors	ENST00000344836	ensembl	human	known	69_37n	missense	203	26.35	73	SNP	1.000	G
ZNF385D	79750	genome.wustl.edu	37	3	21462907	21462907	+	Silent	SNP	C	C	T			TCGA-A8-A085-01A-11W-A019-09	TCGA-A8-A085-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cbdea951-3dc9-42c2-bfdd-3796c30e928e	69ab5cb1-eaab-4fc0-a45e-85e9fad03b28	g.chr3:21462907C>T	ENST00000281523.2	-	8	1505	c.987G>A	c.(985-987)aaG>aaA	p.K329K		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	329						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAGCCAATGGCTTTGAAGGTT	0.423																																						dbGAP											0													42.0	45.0	44.0					3																	21462907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.987G>A	3.37:g.21462907C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.K329	ENST00000281523.2	37	c.987	CCDS2636.1	3																																																																																			ZNF385D	-	NULL	ENSG00000151789		0.423	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	27	0.00	0	C	NM_024697		21462907	21462907	-1	no_errors	ENST00000281523	ensembl	human	known	69_37n	silent	26	42.22	19	SNP	1.000	T
