#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA3	21	genome.wustl.edu	37	16	2339537	2339537	+	Silent	SNP	G	G	A	rs369127242	byFrequency	TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr16:2339537G>A	ENST00000301732.5	-	20	3298	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	ABCA3_ENST00000382381.3_Silent_p.S808S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	866					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGCCCAGTCGCTGGCGCGCC	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16815	0.0		0.0	False		,,,				2504	0.0																0								G		3,4385		0,3,2191	32.0	26.0	28.0		2598	-5.5	0.5	16		28	0,8586		0,0,4293	no	coding-synonymous	ABCA3	NM_001089.2		0,3,6484	AA,AG,GG		0.0,0.0684,0.0231		866/1705	2339537	3,12971	2194	4293	6487	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2598C>T	16.37:g.2339537G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S866	ENST00000301732.5	37	c.2598	CCDS10466.1	16																																																																																			ABCA3	-	NULL		0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	G	NM_001089		2339537	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	silent	SNP	0.410	A
ADAMTS14	140766	genome.wustl.edu	37	10	72511285	72511285	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr10:72511285G>A	ENST00000373207.1	+	17	2479	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.V830I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	827	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V830I(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTACAAGTACGTCATCCATGA	0.627																																																	1	Substitution - Missense(1)	prostate(1)											64.0	64.0	64.0					10																	72511285		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2479G>A	10.37:g.72511285G>A	ENSP00000362303:p.Val827Ile		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.V830I	ENST00000373207.1	37	c.2488	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.798342	0.00617	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.51817	0.69;0.69	4.38	-1.56	0.08532	ADAM-TS Spacer 1 (1);	0.374525	0.25009	N	0.033850	T	0.17619	0.0423	N	0.02181	-0.65	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.14023	0.006;0.01	T	0.24297	-1.0164	10	0.12430	T	0.62	.	12.1109	0.53838	0.6462:0.0:0.3538:0.0	.	827;830	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	I	830;827	ENSP00000362304:V830I;ENSP00000362303:V827I	ENSP00000362303:V827I	V	+	1	0	ADAMTS14	72181291	0.913000	0.31002	0.019000	0.16419	0.430000	0.31655	1.786000	0.38694	-0.941000	0.03700	-1.119000	0.02030	GTC	ADAMTS14	-	pfam_ADAM_spacer1		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72511285	+1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.052	A
ADAMTS16	170690	genome.wustl.edu	37	5	5235148	5235148	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr5:5235148C>T	ENST00000274181.7	+	13	2010	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	624	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGGAAGTTCTGTGAGGGCT	0.448																																																	0													64.0	66.0	65.0					5																	5235148		1920	4113	6033	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1872C>T	5.37:g.5235148C>T			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F624	ENST00000274181.7	37	c.1872	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.448	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5235148	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	silent	SNP	1.000	T
AHCY	191	genome.wustl.edu	37	20	32880201	32880201	+	Silent	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr20:32880201G>A	ENST00000217426.2	-	4	485	c.408C>T	c.(406-408)acC>acT	p.T136T	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Silent_p.T108T	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	136					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGATGAGGTTGGTGAGGTCGC	0.632																																																	0													86.0	66.0	73.0					20																	32880201		2203	4300	6503	SO:0001819	synonymous_variant	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.408C>T	20.37:g.32880201G>A			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.T136	ENST00000217426.2	37	c.408	CCDS13233.1	20																																																																																			AHCY	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2	G	NM_000687		32880201	-1	no_errors	ENST00000217426	ensembl	human	known	70_37	silent	SNP	0.998	A
AKNA	80709	genome.wustl.edu	37	9	117121944	117121944	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr9:117121944C>T	ENST00000307564.4	-	11	2583	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T	AKNA_ENST00000312033.3_Missense_Mutation_p.A808T|AKNA_ENST00000374075.5_Missense_Mutation_p.A727T|AKNA_ENST00000223791.3_Missense_Mutation_p.A268T|AKNA_ENST00000374088.3_Missense_Mutation_p.A808T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	808					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGCCTCTGCTTTCCCTGGA	0.592																																																	0													94.0	89.0	91.0					9																	117121944		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2422G>A	9.37:g.117121944C>T	ENSP00000303769:p.Ala808Thr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.A808T	ENST00000307564.4	37	c.2422	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	8.761	0.923671	0.18056	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.33216	2.72;2.72;2.5;2.72;1.42	3.62	1.2	0.21068	.	0.968998	0.08468	N	0.941479	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B;B	0.22909	0.02;0.077	B;B	0.24848	0.012;0.056	T	0.35351	-0.9792	10	0.18276	T	0.48	-0.8718	2.8652	0.05599	0.2411:0.5583:0.0:0.2006	.	808;727	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	T	808;649;808;268;727;808	ENSP00000303769:A808T;ENSP00000363201:A808T;ENSP00000223791:A268T;ENSP00000363188:A727T;ENSP00000309222:A808T	ENSP00000223791:A268T	A	-	1	0	AKNA	116161765	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.384000	0.07389	0.287000	0.22375	0.455000	0.32223	GCA	AKNA	-	NULL		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117121944	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.000	T
ALS2	57679	genome.wustl.edu	37	2	202626361	202626361	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:202626361G>T	ENST00000264276.6	-	4	728	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	ALS2_ENST00000467448.1_Missense_Mutation_p.S119Y|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	119					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGGCCAGCAGAATTCTCTCC	0.507																																																	0													105.0	102.0	103.0					2																	202626361		2077	4224	6301	SO:0001583	missense	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.356C>A	2.37:g.202626361G>T	ENSP00000264276:p.Ser119Tyr		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.S119Y	ENST00000264276.6	37	c.356	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752655	0.69533	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632	D;D;D	0.85258	-1.96;-1.96;-1.52	6.07	5.15	0.70609	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.453330	0.25994	N	0.026997	D	0.88093	0.6344	L	0.51914	1.62	0.80722	D	1	D;P;P;P	0.61080	0.989;0.955;0.878;0.904	P;P;P;P	0.56514	0.8;0.748;0.663;0.639	D	0.87377	0.2354	10	0.46703	T	0.11	.	16.8999	0.86110	0.0:0.1278:0.8722:0.0	.	119;119;119;119	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	Y	119	ENSP00000264276:S119Y;ENSP00000429223:S119Y;ENSP00000386384:S119Y	ENSP00000264276:S119Y	S	-	2	0	ALS2	202334606	0.999000	0.42202	0.997000	0.53966	0.844000	0.47949	3.448000	0.52943	2.885000	0.99019	0.655000	0.94253	TCT	ALS2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.507	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	G	NM_020919		202626361	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	missense	SNP	0.888	T
AMZ2	51321	genome.wustl.edu	37	17	66250580	66250580	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:66250580G>C	ENST00000359904.3	+	5	1754	c.622G>C	c.(622-624)Gat>Cat	p.D208H	AMZ2_ENST00000577866.1_Missense_Mutation_p.D208H|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.D208H|AMZ2_ENST00000359783.4_Missense_Mutation_p.D150H|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.D208H|AMZ2_ENST00000392720.2_Missense_Mutation_p.D208H	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	208							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTATGGCAGTGATTTTTATAG	0.368																																																	0													105.0	95.0	98.0					17																	66250580		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.622G>C	17.37:g.66250580G>C	ENSP00000352976:p.Asp208His		A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.D208H	ENST00000359904.3	37	c.622	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654495	0.29425	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.68025	-0.3;-0.3;-0.3	5.12	4.15	0.48705	.	0.242407	0.29383	N	0.012303	T	0.65059	0.2655	M	0.74881	2.28	0.40259	D	0.978157	B;B	0.22541	0.017;0.071	B;B	0.26202	0.037;0.067	T	0.67348	-0.5693	10	0.72032	D	0.01	-14.7047	8.4637	0.32942	0.179:0.0:0.821:0.0	.	150;208	A6NLD9;Q86W34	.;AMZ2_HUMAN	H	208;150;208	ENSP00000352976:D208H;ENSP00000352831:D150H;ENSP00000376481:D208H	ENSP00000352831:D150H	D	+	1	0	AMZ2	63762175	1.000000	0.71417	0.970000	0.41538	0.928000	0.56348	2.035000	0.41155	1.492000	0.48499	0.632000	0.83419	GAT	AMZ2	-	NULL		0.368	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	G	NM_016627		66250580	+1	no_errors	ENST00000359904	ensembl	human	known	70_37	missense	SNP	0.998	C
ANK2	287	genome.wustl.edu	37	4	114280416	114280416	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:114280416G>C	ENST00000357077.4	+	38	10695	c.10642G>C	c.(10642-10644)Gaa>Caa	p.E3548Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3515Q|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3548					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACTCTGATTGAACGCATCCC	0.448																																																	0													76.0	75.0	75.0					4																	114280416		2203	4299	6502	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10642G>C	4.37:g.114280416G>C	ENSP00000349588:p.Glu3548Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3548Q	ENST00000357077.4	37	c.10642	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543072	0.65198	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96587	-0.53;-0.53;-4.06	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000033	D	0.95726	0.8610	N	0.12746	0.255	0.80722	D	1	P;D	0.89917	0.816;1.0	B;D	0.85130	0.232;0.997	D	0.94070	0.7334	10	0.19590	T	0.45	.	20.1996	0.98256	0.0:0.0:1.0:0.0	.	3515;3548	Q01484;Q01484-4	ANK2_HUMAN;.	Q	3548;3515;558	ENSP00000349588:E3548Q;ENSP00000264366:E3515Q;ENSP00000422498:E558Q	ENSP00000264366:E3515Q	E	+	1	0	ANK2	114499865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.776000	0.95493	0.650000	0.86243	GAA	ANK2	-	NULL		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114280416	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	C
APOB	338	genome.wustl.edu	37	2	21252562	21252562	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:21252562C>A	ENST00000233242.1	-	12	1693	c.1566G>T	c.(1564-1566)atG>atT	p.M522I	APOB_ENST00000399256.4_Missense_Mutation_p.M522I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	522	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTCTGGATCATCAGTGATG	0.433																																																	0													202.0	185.0	191.0					2																	21252562		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1566G>T	2.37:g.21252562C>A	ENSP00000233242:p.Met522Ile		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.M522I	ENST00000233242.1	37	c.1566	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778028	0.31502	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.39592	1.07;1.07	5.18	3.25	0.37280	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.540447	0.15755	N	0.246220	T	0.19685	0.0473	N	0.08118	0	0.20403	N	0.999909	B	0.16802	0.019	B	0.06405	0.002	T	0.08617	-1.0713	10	0.38643	T	0.18	.	4.7438	0.13028	0.0:0.461:0.3254:0.2136	.	522	P04114	APOB_HUMAN	I	522	ENSP00000233242:M522I;ENSP00000382200:M522I	ENSP00000233242:M522I	M	-	3	0	APOB	21106067	0.000000	0.05858	0.999000	0.59377	0.874000	0.50279	-0.773000	0.04689	1.318000	0.45170	0.561000	0.74099	ATG	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21252562	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.428	A
ART3	419	genome.wustl.edu	37	4	77020136	77020136	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:77020136C>T	ENST00000355810.4	+	5	962	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ART3_ENST00000341029.5_Silent_p.N281N|ART3_ENST00000349321.3_Silent_p.N281N|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	281					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGTCTACAACCCTGGTGAGT	0.403																																																	0													87.0	87.0	87.0					4																	77020136		2203	4300	6503	SO:0001819	synonymous_variant	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.843C>T	4.37:g.77020136C>T			Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	pfam_ART,prints_ART	p.N281	ENST00000355810.4	37	c.843	CCDS47079.1	4																																																																																			ART3	-	NULL		0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ART3	HGNC	protein_coding	OTTHUMT00000252416.2	C	NM_001179		77020136	+1	no_errors	ENST00000355810	ensembl	human	known	70_37	silent	SNP	0.142	T
ASH2L	9070	genome.wustl.edu	37	8	37978654	37978654	+	Silent	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr8:37978654C>G	ENST00000343823.6	+	10	1461	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A	ASH2L_ENST00000545394.1_Silent_p.A245A|ASH2L_ENST00000521652.1_Silent_p.A290A|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000428278.2_Silent_p.A290A|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000250635.7_Silent_p.A290A	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TTTTGTTAGCCCTACATGATC	0.473											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115.0	110.0	112.0					8																	37978654		2203	4300	6503	SO:0001819	synonymous_variant	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1152C>G	8.37:g.37978654C>G		874	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.A384	ENST00000343823.6	37	c.1152	CCDS6101.1	8																																																																																			ASH2L	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.473	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	C	NM_004674		37978654	+1	no_errors	ENST00000343823	ensembl	human	known	70_37	silent	SNP	0.715	G
ATP10A	57194	genome.wustl.edu	37	15	25953178	25953178	+	Silent	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr15:25953178G>A	ENST00000356865.6	-	12	2631	c.2520C>T	c.(2518-2520)agC>agT	p.S840S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	840					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAGCTCCTCGCTGTTTTCCA	0.502																																																	0													79.0	71.0	74.0					15																	25953178		2203	4300	6503	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2520C>T	15.37:g.25953178G>A			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S840	ENST00000356865.6	37	c.2520	CCDS32178.1	15																																																																																			ATP10A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25953178	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	silent	SNP	0.036	A
ATP11B	23200	genome.wustl.edu	37	3	182587084	182587085	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:182587084_182587085insA	ENST00000323116.5	+	17	2091_2092	c.1831_1832insA	c.(1831-1833)gaafs	p.E611fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	611					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGGAGAAATAGAAAAAACCAGA	0.292																																																	0																																										SO:0001589	frameshift_variant	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1837dupA	3.37:g.182587090_182587090dupA	ENSP00000321195:p.Glu611fs		Q96FN1|Q9UKK7	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T613fs	ENST00000323116.5	37	c.1831_1832	CCDS33896.1	3																																																																																			ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.292	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	-	NM_014616		182587085	+1	no_errors	ENST00000323116	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
CAPN10	11132	genome.wustl.edu	37	2	241535810	241535810	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:241535810C>T	ENST00000391984.2	+	8	1549	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.Y451Y|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	451	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCATGCATACGACCGGGAGG	0.652																																																	0													63.0	69.0	67.0					2																	241535810		2010	4169	6179	SO:0001819	synonymous_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1353C>T	2.37:g.241535810C>T			A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y451	ENST00000391984.2	37	c.1353	CCDS42838.1	2																																																																																			CAPN10	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.652	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	C	NM_023083		241535810	+1	no_errors	ENST00000391984	ensembl	human	known	70_37	silent	SNP	0.588	T
CBLB	868	genome.wustl.edu	37	3	105400388	105400388	+	Missense_Mutation	SNP	T	T	C	rs373403352		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:105400388T>C	ENST00000264122.4	-	16	2684	c.2363A>G	c.(2362-2364)aAt>aGt	p.N788S	CBLB_ENST00000394027.3_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.N788S|CBLB_ENST00000403724.1_3'UTR|CBLB_ENST00000407712.1_Intron	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	788	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATGCTTTGGATTGTCCCGAGT	0.438			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0								T	SER/ASN	0,4406		0,0,2203	113.0	102.0	106.0		2363	-5.9	0.9	3		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	788/983	105400388	1,13005	2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2363A>G	3.37:g.105400388T>C	ENSP00000264122:p.Asn788Ser		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.N788S	ENST00000264122.4	37	c.2363	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311049	0.23821	0.0	1.16E-4	ENSG00000114423	ENST00000264122;ENST00000405772	D;D	0.83591	-1.72;-1.74	5.96	-5.88	0.02290	.	0.428248	0.28247	N	0.016047	T	0.73048	0.3537	L	0.43152	1.355	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.50259	-0.8849	10	0.87932	D	0	-7.6848	14.3954	0.67007	0.0:0.4647:0.0:0.5353	.	788	Q13191	CBLB_HUMAN	S	788	ENSP00000264122:N788S;ENSP00000384938:N788S	ENSP00000264122:N788S	N	-	2	0	CBLB	106883078	1.000000	0.71417	0.910000	0.35882	0.994000	0.84299	0.853000	0.27777	-1.001000	0.03434	-0.334000	0.08254	AAT	CBLB	-	NULL		0.438	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	T	NM_170662		105400388	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	0.957	C
CLK1	1195	genome.wustl.edu	37	2	201722750	201722750	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:201722750C>T	ENST00000321356.4	-	6	746	c.611G>A	c.(610-612)cGc>cAc	p.R204H	CLK1_ENST00000409769.2_Missense_Mutation_p.R27H|CLK1_ENST00000434813.2_Missense_Mutation_p.R246H|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATTTCTGAGCGAGCAGCTTC	0.368																																																	0													167.0	160.0	163.0					2																	201722750		2202	4300	6502	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.611G>A	2.37:g.201722750C>T	ENSP00000326830:p.Arg204His		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R204H	ENST00000321356.4	37	c.611	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670459	0.47781	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.66460	-0.21;-0.21;-0.21	5.71	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.277896	0.37053	N	0.002263	T	0.51787	0.1695	L	0.31420	0.93	0.27689	N	0.946196	B;B;B;B	0.18013	0.025;0.006;0.006;0.005	B;B;B;B	0.16289	0.015;0.009;0.009;0.002	T	0.51466	-0.8702	10	0.66056	D	0.02	.	8.7935	0.34866	0.0:0.7006:0.0:0.2994	.	246;174;204;27	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	H	204;174;27;246	ENSP00000326830:R204H;ENSP00000386358:R27H;ENSP00000394734:R246H	ENSP00000326830:R204H	R	-	2	0	CLK1	201430995	0.469000	0.25846	1.000000	0.80357	0.998000	0.95712	0.627000	0.24506	1.388000	0.46506	0.563000	0.77884	CGC	CLK1	-	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		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	C			201722750	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	0.999	T
CNOT6L	246175	genome.wustl.edu	37	4	78641593	78641593	+	Missense_Mutation	SNP	G	G	A	rs369854208		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:78641593G>A	ENST00000504123.1	-	12	1790	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	CNOT6L_ENST00000264903.4_Missense_Mutation_p.R554W			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	554	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CACTACCTCCGATTAGGCAAG	0.493																																																	0								G	TRP/ARG	0,3970		0,0,1985	168.0	158.0	161.0		1660	2.9	1.0	4		161	1,8295		0,1,4147	no	missense	CNOT6L	NM_144571.2	101	0,1,6132	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	554/556	78641593	1,12265	1985	4148	6133	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1660C>T	4.37:g.78641593G>A	ENSP00000424896:p.Arg554Trp		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.R554W	ENST00000504123.1	37	c.1660		4	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942364	0.53079	0.0	1.21E-4	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.33865	1.39;1.39;1.54	5.95	2.94	0.34122	.	0.076790	0.49305	U	0.000151	T	0.47377	0.1442	M	0.69823	2.125	0.41251	D	0.986714	D	0.71674	0.998	P	0.49999	0.628	T	0.58769	-0.7578	10	0.87932	D	0	-2.7866	15.0735	0.72059	0.0:0.0:0.5038:0.4962	.	554	Q96LI5	CNO6L_HUMAN	W	554;554;561	ENSP00000424896:R554W;ENSP00000264903:R554W;ENSP00000425571:R561W	ENSP00000264903:R554W	R	-	1	2	CNOT6L	78860617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	0.813000	0.34350	0.650000	0.86243	CGG	CNOT6L	-	NULL		0.493	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	G			78641593	-1	no_errors	ENST00000264903	ensembl	human	known	70_37	missense	SNP	0.997	A
CPAMD8	27151	genome.wustl.edu	37	19	17013537	17013537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:17013537C>T	ENST00000443236.1	-	35	4779	c.4748G>A	c.(4747-4749)tGg>tAg	p.W1583*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1536						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						AGCTGGGGGCCAGTCTCCTCG	0.652																																																	0													32.0	38.0	36.0					19																	17013537		2007	4173	6180	SO:0001587	stop_gained	27151			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.4748G>A	19.37:g.17013537C>T	ENSP00000402505:p.Trp1583*		Q8NC09|Q9ULD7	Nonsense_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.W1583*	ENST00000443236.1	37	c.4748	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.755369|7.755369	0.98471|0.98471	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	1.77|1.77	-2.76|-2.76	0.05896|0.05896	.|.	.|0.126930	.|0.28338	.|U	.|0.015708	T|.	0.50343|.	0.1610|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40194|.	-0.9576|.	4|.	.|0.36615	.|T	.|0.2	.|.	5.4086|5.4086	0.16336|0.16336	0.1926:0.6777:0.0:0.1297|0.1926:0.6777:0.0:0.1297	.|.	.|.	.|.	.|.	S|X	1594|1583	.|.	.|ENSP00000291440:W1583X	G|W	-|-	1|2	0|0	CPAMD8|CPAMD8	16874537|16874537	0.990000|0.990000	0.36364|0.36364	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	3.757000|3.757000	0.55212|0.55212	-0.182000|-0.182000	0.10602|0.10602	0.485000|0.485000	0.47835|0.47835	GGC|TGG	CPAMD8	-	superfamily_A-macroglobulin_rcpt-bd		0.652	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	C	NM_015692		17013537	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	nonsense	SNP	0.498	T
CR2	1380	genome.wustl.edu	37	1	207643042	207643042	+	Missense_Mutation	SNP	A	A	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:207643042A>T	ENST00000367058.3	+	6	1009	c.820A>T	c.(820-822)Att>Ttt	p.I274F	CR2_ENST00000367059.3_Missense_Mutation_p.I274F|CR2_ENST00000367057.3_Missense_Mutation_p.I274F|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.I274F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	274	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCTAGAAATTTTTTGCCC	0.413																																																	0													78.0	77.0	77.0					1																	207643042		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.820A>T	1.37:g.207643042A>T	ENSP00000356025:p.Ile274Phe		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.I274F	ENST00000367058.3	37	c.820	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380582	0.61845	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.05	3.92	0.45320	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.57858	0.2082	H	0.94658	3.565	0.47009	D	0.999283	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.63812	-0.6552	9	0.87932	D	0	.	7.9801	0.30179	0.9049:0.0:0.0951:0.0	.	274;274;274	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	274	ENSP00000356025:I274F;ENSP00000356024:I274F;ENSP00000356026:I274F;ENSP00000404222:I274F	ENSP00000356024:I274F	I	+	1	0	CR2	205709665	0.789000	0.28775	0.999000	0.59377	0.660000	0.38997	2.108000	0.41854	1.027000	0.39758	0.454000	0.30748	ATT	CR2	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	A	NM_001877		207643042	+1	no_errors	ENST00000367057	ensembl	human	known	70_37	missense	SNP	1.000	T
DBF4	10926	genome.wustl.edu	37	7	87537187	87537187	+	Silent	SNP	G	G	C			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr7:87537187G>C	ENST00000265728.1	+	12	2238	c.1734G>C	c.(1732-1734)gtG>gtC	p.V578V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	578					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATCGAAAAGTGAAAATAATAT	0.328																																																	0													47.0	53.0	51.0					7																	87537187		2202	4266	6468	SO:0001819	synonymous_variant	10926			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1734G>C	7.37:g.87537187G>C			A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.V578	ENST00000265728.1	37	c.1734	CCDS5611.1	7																																																																																			DBF4	-	NULL		0.328	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	G	NM_006716		87537187	+1	no_errors	ENST00000265728	ensembl	human	known	70_37	silent	SNP	0.899	C
DBR1	51163	genome.wustl.edu	37	3	137882330	137882330	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:137882330C>T	ENST00000260803.4	-	7	955	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DBR1_ENST00000505015.2_Missense_Mutation_p.E34K	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	268					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTTCTATCTCTAATATCTAC	0.303																																																	0													82.0	81.0	81.0					3																	137882330		2203	4300	6503	SO:0001583	missense	51163			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.802G>A	3.37:g.137882330C>T	ENSP00000260803:p.Glu268Lys		Q96GH0|Q9NXQ6	Missense_Mutation	SNP	pfam_DBR1_C,pfam_Metallo_PEstase_dom	p.E268K	ENST00000260803.4	37	c.802	CCDS33863.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016477	0.75161	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.50548	0.74	5.87	5.87	0.94306	Lariat debranching enzyme, C-terminal (1);	0.103422	0.64402	D	0.000005	T	0.68815	0.3042	M	0.87900	2.915	0.47949	D	0.999556	P;D	0.53745	0.88;0.962	P;P	0.54965	0.765;0.7	T	0.73464	-0.3974	10	0.62326	D	0.03	-23.0164	17.713	0.88327	0.0:1.0:0.0:0.0	.	268;36	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	K	268;34	ENSP00000260803:E268K	ENSP00000260803:E268K	E	-	1	0	DBR1	139365020	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.311000	0.65786	2.780000	0.95670	0.655000	0.94253	GAG	DBR1	-	pfam_DBR1_C		0.303	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	HGNC	protein_coding	OTTHUMT00000357585.1	C			137882330	-1	no_errors	ENST00000260803	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJC21	134218	genome.wustl.edu	37	5	34949771	34949771	+	Intron	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr5:34949771G>A	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000382021.2_Missense_Mutation_p.E437K|DNAJC21_ENST00000512136.1_Intron			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			aatgttGCTTGAAAACAGACA	0.438																																																	0													86.0	83.0	84.0					5																	34949771		2203	4300	6503	SO:0001627	intron_variant	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-504G>A	5.37:g.34949771G>A			Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E437K	ENST00000342382.4	37	c.1309	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.669629	0.00758	.	.	ENSG00000168724	ENST00000382021	T	0.41758	0.99	2.41	-0.0721	0.13741	.	.	.	.	.	T	0.15219	0.0367	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	8	0.05721	T	0.95	.	4.4464	0.11600	0.5784:0.0:0.4216:0.0	.	437	Q5F1R6-2	.	K	437	ENSP00000371451:E437K	ENSP00000371451:E437K	E	+	1	0	DNAJC21	34985528	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.599000	0.02085	-0.024000	0.13941	-0.350000	0.07774	GAA	DNAJC21	-	NULL		0.438	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	G	NM_194283		34949771	+1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	0.000	A
EIF4A2	1974	genome.wustl.edu	37	3	186505011	186505011	+	Silent	SNP	G	G	C			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:186505011G>C	ENST00000323963.5	+	8	931	c.867G>C	c.(865-867)ctG>ctC	p.L289L	SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Silent_p.L194L|SNORA63_ENST00000363548.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.L290L|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	289	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGACTGGCTGACTGAGAAGA	0.433			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													110.0	106.0	107.0					3																	186505011		2203	4300	6503	SO:0001819	synonymous_variant	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.867G>C	3.37:g.186505011G>C			D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L290	ENST00000323963.5	37	c.870	CCDS3282.1	3																																																																																			EIF4A2	-	smart_Helicase_C,pfscan_Helicase_C		0.433	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186505011	+1	no_errors	ENST00000440191	ensembl	human	known	70_37	silent	SNP	0.948	C
BX119917.1	0	genome.wustl.edu	37	X	71372217	71372217	+	RNA	SNP	A	A	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrX:71372217A>G	ENST00000401114.1	-	0	47																											Gcacacacacacacacacaca	0.527													a|||	57	0.0150993	0.0129	0.0058	3775	,	,		12676	0.0228		0.004	False		,,,				2504	0.0092																0																																												0																															X.37:g.71372217A>G				RNA	SNP	-	NULL	ENST00000401114.1	37	NULL		X																																																																																			BX119917.1	-	-		0.527	BX119917.1-201	NOVEL	basic	miRNA	ENSG00000215933	Clone_based_ensembl_gene	miRNA		A			71372217	-1	no_errors	ENST00000401114	ensembl	human	novel	70_37	rna	SNP	0.006	G
EPB41L4B	54566	genome.wustl.edu	37	9	112020511	112020511	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr9:112020511G>T	ENST00000374566.3	-	7	1215	c.698C>A	c.(697-699)cCa>cAa	p.P233Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.P233Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	233	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCTGATTTGGAATGAACCG	0.438																																																	0													108.0	106.0	107.0					9																	112020511		1899	4129	6028	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.698C>A	9.37:g.112020511G>T	ENSP00000363694:p.Pro233Gln		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.P233Q	ENST00000374566.3	37	c.698	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918757	0.73098	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.89552	-2.53;-2.53	5.48	4.56	0.56223	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.35870	N	0.002925	D	0.95095	0.8411	H	0.94542	3.55	0.80722	D	1	D;P	0.76494	0.999;0.933	D;P	0.64410	0.925;0.897	D	0.95334	0.8432	10	0.66056	D	0.02	.	10.6578	0.45686	0.0:0.2683:0.593:0.1387	.	233;233	Q9H329-2;Q9H329	.;E41LB_HUMAN	Q	233;233;155	ENSP00000363694:P233Q;ENSP00000363685:P233Q	ENSP00000311274:P155Q	P	-	2	0	EPB41L4B	111060332	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.448000	0.73469	1.396000	0.46663	0.563000	0.77884	CCA	EPB41L4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.438	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	G	NM_018424		112020511	-1	no_errors	ENST00000374566	ensembl	human	known	70_37	missense	SNP	1.000	T
EPS8L1	54869	genome.wustl.edu	37	19	55597237	55597237	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:55597237C>T	ENST00000201647.6	+	15	1470	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	EPS8L1_ENST00000245618.5_Missense_Mutation_p.P345S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.P158S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.P486S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.P408S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	472					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAATCTGAGCCTCAGCTGGA	0.582																																					Ovarian(149;255 1863 3636 27051 29647)												0													76.0	77.0	77.0					19																	55597237		2203	4300	6503	SO:0001583	missense	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1414C>T	19.37:g.55597237C>T	ENSP00000201647:p.Pro472Ser		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.P472S	ENST00000201647.6	37	c.1414	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	C	9.629	1.135981	0.21123	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.31769	1.48;1.48;1.48	3.27	1.0	0.19881	Src homology-3 domain (1);	3.306760	0.00927	N	0.002668	T	0.21186	0.0510	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.21753	0.06;0.029;0.012;0.0	B;B;B;B	0.20955	0.032;0.015;0.01;0.001	T	0.13335	-1.0513	10	0.18276	T	0.48	-12.6758	5.788	0.18345	0.0:0.71:0.0:0.29	.	486;251;345;472	Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	S	486;472;408;345;158	ENSP00000201647:P472S;ENSP00000437541:P408S;ENSP00000245618:P345S	ENSP00000201647:P472S	P	+	1	0	EPS8L1	60289049	0.782000	0.28689	0.191000	0.23289	0.015000	0.08874	0.270000	0.18607	0.170000	0.19704	-0.234000	0.12200	CCT	EPS8L1	-	superfamily_SH3_domain		0.582	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	C	NM_017729		55597237	+1	no_errors	ENST00000201647	ensembl	human	known	70_37	missense	SNP	0.285	T
ERO1L	30001	genome.wustl.edu	37	14	53112958	53112958	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr14:53112958C>T	ENST00000395686.3	-	15	1483	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	420					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TATTTGCTATCAATTTCTCAG	0.333																																																	0													107.0	109.0	108.0					14																	53112958		2203	4300	6503	SO:0001819	synonymous_variant	30001			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1260G>A	14.37:g.53112958C>T			A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1	p.L420	ENST00000395686.3	37	c.1260	CCDS9709.1	14																																																																																			ERO1L	-	pfam_ER_oxidoreductin-1,superfamily_ER_oxidoreductin-1,pirsf_ER_oxidoreductin-1		0.333	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1L	HGNC	protein_coding	OTTHUMT00000276892.1	C	NM_014584		53112958	-1	no_errors	ENST00000395686	ensembl	human	known	70_37	silent	SNP	0.998	T
FAM135B	51059	genome.wustl.edu	37	8	139163857	139163857	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr8:139163857T>G	ENST00000395297.1	-	13	3031	c.2861A>C	c.(2860-2862)cAa>cCa	p.Q954P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	954										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTTTGGCTTTGCTGGCCTGT	0.507										HNSCC(54;0.14)																																							0													157.0	126.0	136.0					8																	139163857		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2861A>C	8.37:g.139163857T>G	ENSP00000378710:p.Gln954Pro		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.Q954P	ENST00000395297.1	37	c.2861	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	9.089	1.001360	0.19121	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	4.69	-2.71	0.05986	.	1.657730	0.03521	N	0.220948	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.29027	-1.0025	10	0.27785	T	0.31	.	5.6245	0.17475	0.0:0.3635:0.1559:0.4805	.	954;954;954	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	954	ENSP00000378710:Q954P	ENSP00000276737:Q954P	Q	-	2	0	FAM135B	139233039	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.433000	0.06948	-0.855000	0.04125	-0.274000	0.10170	CAA	FAM135B	-	NULL		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	T	NM_015912		139163857	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	0.000	G
FAM182A	284800	genome.wustl.edu	37	20	26061818	26061818	+	RNA	SNP	G	G	C	rs112101451		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr20:26061818G>C	ENST00000376398.2	+	0	838					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						GATTTCTCCTGCTTAGAAATG	0.463																																																	0													12.0	11.0	11.0					20																	26061818		692	1579	2271			284800			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061818G>C			A2RRD0|Q8N947	Missense_Mutation	SNP	NULL	p.C57S	ENST00000376398.2	37	c.170		20	.	.	.	.	.	.	.	.	.	.	N	7.694	0.691703	0.15039	.	.	ENSG00000125804	ENST00000376398;ENST00000246000	.	.	.	0.368	0.368	0.16146	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.30118	N	0.805912	.	.	.	.	.	.	T	0.53092	-0.8487	4	0.87932	D	0	.	.	.	.	.	.	.	.	S	57	.	ENSP00000246000:C57S	C	+	2	0	FAM182A	26009818	1.000000	0.71417	0.427000	0.26684	0.468000	0.32798	0.774000	0.26675	0.451000	0.26802	0.123000	0.15791	TGC	FAM182A	-	NULL		0.463	FAM182A-001	KNOWN	basic	lincRNA	FAM182A	HGNC	processed_transcript	OTTHUMT00000078473.2	G			26061818	+1	no_errors	ENST00000246000	ensembl	human	known	70_37	missense	SNP	0.580	C
FAXC	84553	genome.wustl.edu	37	6	99771395	99771395	+	Missense_Mutation	SNP	C	C	T	rs140144378		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr6:99771395C>T	ENST00000389677.5	-	4	1030	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	250						integral component of membrane (GO:0016021)											CGGCCAATGCCGTGGCCGTGC	0.512																																																	0													84.0	64.0	71.0					6																	99771395		2203	4300	6503	SO:0001583	missense	84553			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.748G>A	6.37:g.99771395C>T	ENSP00000374328:p.Gly250Ser		B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.G250S	ENST00000389677.5	37	c.748	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.769054	0.96914	.	.	ENSG00000146267	ENST00000389677	T	0.43688	0.94	5.6	5.6	0.85130	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75354	-0.3347	10	0.87932	D	0	-24.349	19.6104	0.95604	0.0:1.0:0.0:0.0	.	250	Q5TGI0	CF168_HUMAN	S	250	ENSP00000374328:G250S	ENSP00000374328:G250S	G	-	1	0	C6orf168	99878116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.288000	0.78691	2.634000	0.89283	0.650000	0.86243	GGC	FAXC	-	superfamily_Glutathione-S-Trfase_C-like		0.512	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4	C	NM_032511		99771395	-1	no_errors	ENST00000389677	ensembl	human	known	70_37	missense	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155287807	155287807	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:155287807C>G	ENST00000356657.6	+	5	718	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	FDPS_ENST00000368356.4_Missense_Mutation_p.Q186E|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000447866.1_Missense_Mutation_p.Q120E|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	186					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGCTGGTATCAGAAGGTAAT	0.517																																																	0													84.0	76.0	79.0					1																	155287807		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.556C>G	1.37:g.155287807C>G	ENSP00000349078:p.Gln186Glu		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.Q186E	ENST00000356657.6	37	c.556	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177475	0.38413	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.62639	0.01;0.01;0.01	3.62	2.67	0.31697	Terpenoid synthase (2);	0.000000	0.35646	N	0.003075	T	0.37433	0.1003	L	0.49126	1.545	0.36860	D	0.888369	B	0.13145	0.007	B	0.15870	0.014	T	0.45469	-0.9259	10	0.87932	D	0	-2.5172	8.4974	0.33136	0.4224:0.5776:0.0:0.0	.	186	P14324	FPPS_HUMAN	E	120;186;186	ENSP00000391755:Q120E;ENSP00000357340:Q186E;ENSP00000349078:Q186E	ENSP00000349078:Q186E	Q	+	1	0	FDPS	153554431	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.858000	0.48356	1.069000	0.40788	0.467000	0.42956	CAG	FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.517	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155287807	+1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	1.000	G
HDAC8	55869	genome.wustl.edu	37	X	71792631	71792631	+	5'UTR	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrX:71792631C>T	ENST00000373573.3	-	0	322				HDAC8_ENST00000373560.2_5'UTR|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373571.1_5'UTR|HDAC8_ENST00000373559.4_5'UTR|HDAC8_ENST00000439122.2_5'UTR|HDAC8_ENST00000373589.4_5'UTR|HDAC8_ENST00000373561.4_5'UTR|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373583.1_5'UTR|HDAC8_ENST00000373556.3_5'UTR|HDAC8_ENST00000373554.1_5'UTR	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8						chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AAAACCGTTCCGCAGCCACCT	0.582																																																	0													35.0	34.0	34.0					X																	71792631		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55869			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.-20G>A	X.37:g.71792631C>T			A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	RNA	SNP	-	NULL	ENST00000373573.3	37	NULL	CCDS14420.1	X																																																																																			HDAC8	-	-		0.582	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC8	HGNC	protein_coding	OTTHUMT00000057193.2	C	NM_018486		71792631	-1	no_errors	ENST00000478743	ensembl	human	known	70_37	rna	SNP	0.000	T
HLA-B	3106	genome.wustl.edu	37	6	31324114	31324114	+	Missense_Mutation	SNP	A	A	T	rs281864622		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr6:31324114A>T	ENST00000412585.2	-	3	477	c.449T>A	c.(448-450)cTg>cAg	p.L150Q		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTCCTCGTTCAGGGCGATGTA	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													31.0	23.0	26.0					6																	31324114		2119	4202	6321	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.449T>A	6.37:g.31324114A>T	ENSP00000399168:p.Leu150Gln		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L150Q	ENST00000412585.2	37	c.449	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	15.87	2.962032	0.53400	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.01252	5.1;5.1	3.18	3.18	0.36537	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.292949	0.17961	U	0.156166	T	0.14056	0.0340	H	0.99986	5.255	0.35844	D	0.826265	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.38607	-0.9653	10	0.87932	D	0	.	9.7497	0.40468	1.0:0.0:0.0:0.0	.	150;150	P30480;P01889	1B42_HUMAN;1B07_HUMAN	Q	150;29;29;161	ENSP00000399168:L150Q;ENSP00000405931:L161Q	ENSP00000399168:L150Q	L	-	2	0	HLA-B	31432093	0.992000	0.36948	0.854000	0.33618	0.042000	0.13812	3.405000	0.52630	1.471000	0.48121	0.247000	0.18012	CTG	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.697	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	A	NM_005514		31324114	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	missense	SNP	0.998	T
CRHR2	1395	genome.wustl.edu	37	7	30739485	30739485	+	Intron	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr7:30739485C>T	ENST00000348438.4	-	1	160				CRHR2_ENST00000462882.1_Intron|INMT_ENST00000484180.1_Intron	NM_001202475.1|NM_001202481.1	NP_001189404.1|NP_001189410.1	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGAGACCCCCGCCCCTAGTC	0.657																																																	0																																										SO:0001627	intron_variant	11185				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000348438.4:c.90+74G>A	7.37:g.30739485C>T			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	RNA	SNP	-	NULL	ENST00000348438.4	37	NULL	CCDS56478.1	7																																																																																			INMT	-	-		0.657	CRHR2-001	KNOWN	basic|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000327785.1	C			30739485	+1	no_errors	ENST00000461246	ensembl	human	known	70_37	rna	SNP	0.000	T
IQGAP3	128239	genome.wustl.edu	37	1	156508650	156508650	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:156508650G>A	ENST00000361170.2	-	26	3242	c.3232C>T	c.(3232-3234)Ctc>Ttc	p.L1078F	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1078	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTATAGAGGTGGACAGGG	0.552																																																	0													122.0	103.0	109.0					1																	156508650		2203	4300	6503	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3232C>T	1.37:g.156508650G>A	ENSP00000354451:p.Leu1078Phe		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.L1078F	ENST00000361170.2	37	c.3232	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228911	0.39399	.	.	ENSG00000183856	ENST00000361170	T	0.80824	-1.42	4.71	0.365	0.16131	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.523710	0.19361	N	0.116127	T	0.62159	0.2405	L	0.40543	1.245	0.31479	N	0.667393	P	0.42518	0.782	B	0.41236	0.351	T	0.60378	-0.7275	10	0.87932	D	0	-2.5486	14.7179	0.69284	0.0:0.0:0.2359:0.7641	.	1078	Q86VI3	IQGA3_HUMAN	F	1078	ENSP00000354451:L1078F	ENSP00000354451:L1078F	L	-	1	0	IQGAP3	154775274	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	1.237000	0.32695	-0.093000	0.12396	0.591000	0.81541	CTC	IQGAP3	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	G	NM_178229		156508650	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	missense	SNP	0.999	A
KCNG1	3755	genome.wustl.edu	37	20	49626582	49626582	+	Silent	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr20:49626582G>A	ENST00000371571.4	-	2	579	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.F98F|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	98					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGATGTCGTCGAAGTTGGTGC	0.607																																																	0													78.0	62.0	67.0					20																	49626582		2203	4300	6503	SO:0001819	synonymous_variant	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.294C>T	20.37:g.49626582G>A			A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.F98	ENST00000371571.4	37	c.294	CCDS13436.1	20																																																																																			KCNG1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.607	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	G	NM_002237		49626582	-1	no_errors	ENST00000371571	ensembl	human	known	70_37	silent	SNP	1.000	A
KDM4E	390245	genome.wustl.edu	37	11	94759051	94759051	+	Silent	SNP	G	G	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr11:94759051G>T	ENST00000450979.2	+	1	630	c.330G>T	c.(328-330)ccG>ccT	p.P110P		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	110					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						ATCAGACTCCGCCACACCAGA	0.473																																																	0													9.0	9.0	9.0					11																	94759051		689	1589	2278	SO:0001819	synonymous_variant	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.330G>T	11.37:g.94759051G>T				Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.P110	ENST00000450979.2	37	c.330	CCDS44713.1	11																																																																																			KDM4E	-	NULL		0.473	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	G	NM_001161630		94759051	+1	no_errors	ENST00000450979	ensembl	human	known	70_37	silent	SNP	0.020	T
KLC3	147700	genome.wustl.edu	37	19	45854574	45854574	+	Missense_Mutation	SNP	C	C	T	rs200617999		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:45854574C>T	ENST00000391946.2	+	13	1576	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Missense_Mutation_p.R491W|KLC3_ENST00000470402.1_Missense_Mutation_p.R506W	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	492					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAAGGCCCCTCGGACCCTCAG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16358	0.001		0.0	False		,,,				2504	0.0																0								C	TRP/ARG	1,4023		0,1,2011	88.0	103.0	98.0		1474	2.4	0.5	19		98	2,8330		0,2,4164	yes	missense	KLC3	NM_177417.2	101	0,3,6175	TT,TC,CC		0.024,0.0249,0.0243	probably-damaging	492/505	45854574	3,12353	2012	4166	6178	SO:0001583	missense	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1474C>T	19.37:g.45854574C>T	ENSP00000375810:p.Arg492Trp		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R506W	ENST00000391946.2	37	c.1516	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110747	0.37242	2.49E-4	2.4E-4	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.88046	-2.29;-2.33	3.48	2.39	0.29439	.	0.000000	0.53938	U	0.000053	D	0.89701	0.6791	L	0.52905	1.665	0.24126	N	0.995781	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.985	T	0.80603	-0.1309	10	0.87932	D	0	-15.173	7.943	0.29969	0.2452:0.7548:0.0:0.0	.	491;506;492	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	W	492;506	ENSP00000375810:R492W;ENSP00000436019:R506W	ENSP00000375810:R492W	R	+	1	2	KLC3	50546414	0.001000	0.12720	0.540000	0.28089	0.426000	0.31534	-0.834000	0.04391	0.773000	0.33404	0.462000	0.41574	CGG	KLC3	-	NULL		0.642	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	C	NM_145275		45854574	+1	no_errors	ENST00000470402	ensembl	human	known	70_37	missense	SNP	0.353	T
C10orf95	79946	genome.wustl.edu	37	10	104211229	104211229	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr10:104211229C>A	ENST00000239125.1	-	0	71				RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95											liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTCCATGCCCTGCCTCAGCC	0.622																																																	0													33.0	28.0	30.0					10																	104211229		2203	4300	6503			100505761			AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.-4G>T	10.37:g.104211229C>A			A0AVQ7	RNA	SNP	-	NULL	ENST00000239125.1	37	NULL	CCDS7534.1	10																																																																																			RP11-18I14.10	-	-		0.622	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100505761	Clone_based_vega_gene	protein_coding	OTTHUMT00000050065.1	C	NM_024886		104211229	+1	no_errors	ENST00000492465	ensembl	human	known	70_37	rna	SNP	0.000	A
MBNL2	10150	genome.wustl.edu	37	13	97995334	97995334	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr13:97995334C>T	ENST00000376673.3	+	4	1185	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MBNL2_ENST00000397601.1_Missense_Mutation_p.A135V|MBNL2_ENST00000343600.4_Missense_Mutation_p.A135V|MBNL2_ENST00000345429.6_Missense_Mutation_p.A135V|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	135					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CCTTACCTAGCACCTGTAACC	0.522																																																	0													89.0	83.0	85.0					13																	97995334		2203	4300	6503	SO:0001583	missense	10150			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.404C>T	13.37:g.97995334C>T	ENSP00000365861:p.Ala135Val		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A135V	ENST00000376673.3	37	c.404		13	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445024	0.63178	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.43688	0.94;0.94;0.95;0.95	5.56	4.7	0.59300	.	0.102221	0.64402	D	0.000002	T	0.35480	0.0933	L	0.29908	0.895	0.80722	D	1	B;B;B	0.15930	0.001;0.015;0.008	B;B;B	0.23419	0.007;0.011;0.046	T	0.08722	-1.0708	10	0.37606	T	0.19	.	16.7416	0.85461	0.0:0.8706:0.1294:0.0	.	135;135;135	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	V	135	ENSP00000380726:A135V;ENSP00000344214:A135V;ENSP00000267287:A135V;ENSP00000365861:A135V	ENSP00000344214:A135V	A	+	2	0	MBNL2	96793335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.654000	0.67974	1.459000	0.47892	0.650000	0.86243	GCA	MBNL2	-	NULL		0.522	MBNL2-202	KNOWN	basic	protein_coding	MBNL2	HGNC	protein_coding		C	NM_144778		97995334	+1	no_errors	ENST00000376673	ensembl	human	known	70_37	missense	SNP	1.000	T
MED1	5469	genome.wustl.edu	37	17	37588194	37588194	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:37588194C>T	ENST00000394287.3	-	8	781		c.e8+1		MED1_ENST00000300651.6_Splice_Site			O95243	MBD4_HUMAN	mediator complex subunit 1						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGCAGTCTTACCAGTACATAA	0.358										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													108.0	106.0	107.0					17																	37588194		2203	4300	6503	SO:0001630	splice_region_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.575+1G>A	17.37:g.37588194C>T			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Splice_Site	SNP	-	e8+1	ENST00000394287.3	37	c.575+1		17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244488	0.79912	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7345	0.91749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED1	34841720	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.540000	0.73861	2.487000	0.83934	0.655000	0.94253	.	MED1	-	-		0.358	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774	Intron	37588194	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	splice_site	SNP	1.000	T
MEGF8	1954	genome.wustl.edu	37	19	42866575	42866575	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:42866575G>A	ENST00000251268.6	+	34	5884	c.5884G>A	c.(5884-5886)Gaa>Aaa	p.E1962K	MEGF8_ENST00000334370.4_Missense_Mutation_p.E1895K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1962	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAACTGCCCCGAAGGTGCTTG	0.607																																																	0													123.0	106.0	112.0					19																	42866575		2203	4300	6503	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5884G>A	19.37:g.42866575G>A	ENSP00000251268:p.Glu1962Lys		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.E1962K	ENST00000251268.6	37	c.5884		19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459335	0.84317	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.05;2.05	5.2	5.2	0.72013	.	0.151465	0.41938	D	0.000782	T	0.30262	0.0759	L	0.29908	0.895	0.80722	D	1	P;D	0.89917	0.826;1.0	B;D	0.63957	0.154;0.92	T	0.02424	-1.1161	10	0.10636	T	0.68	-10.0857	17.4936	0.87711	0.0:0.0:1.0:0.0	.	1962;1895	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	K	1895;1962	ENSP00000334219:E1895K;ENSP00000251268:E1962K	ENSP00000251268:E1962K	E	+	1	0	MEGF8	47558415	1.000000	0.71417	0.988000	0.46212	0.797000	0.45037	9.130000	0.94437	2.442000	0.82660	0.462000	0.41574	GAA	MEGF8	-	smart_Plexin-like		0.607	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	G	NM_001410		42866575	+1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18347715	18347715	+	Missense_Mutation	SNP	T	T	C	rs376349779		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr22:18347715T>C	ENST00000441493.2	-	19	2907	c.2555A>G	c.(2554-2556)gAt>gGt	p.D852G	MICAL3_ENST00000429452.1_Missense_Mutation_p.D976G|MICAL3_ENST00000400561.2_Missense_Mutation_p.D852G|MICAL3_ENST00000414725.2_Missense_Mutation_p.D880G|MICAL3_ENST00000383094.3_Missense_Mutation_p.D852G|MICAL3_ENST00000585038.1_Missense_Mutation_p.D976G|MICAL3_ENST00000207726.7_Missense_Mutation_p.D880G|MICAL3_ENST00000444520.1_Missense_Mutation_p.D852G	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	852					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGTTTGCATCTGTGGTGGC	0.577																																																	0													87.0	83.0	84.0					22																	18347715		1568	3582	5150	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2555A>G	22.37:g.18347715T>C	ENSP00000416015:p.Asp852Gly		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D852G	ENST00000441493.2	37	c.2555	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029546	0.35797	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.68181	-0.02;-0.31;-0.07;-0.07;-0.08;-0.07;-0.08	5.72	4.66	0.58398	.	0.323751	0.25324	N	0.031492	T	0.72309	0.3444	L	0.53249	1.67	0.29150	N	0.878471	D;B;B;B;D	0.59357	0.985;0.001;0.0;0.102;0.958	P;B;B;B;P	0.58172	0.834;0.001;0.002;0.034;0.604	T	0.66705	-0.5856	10	0.25106	T	0.35	.	12.8742	0.57982	0.0:0.0:0.136:0.864	.	976;880;852;852;852	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	G	852;976;852;852;880;852;880	ENSP00000416015:D852G;ENSP00000414846:D976G;ENSP00000383406:D852G;ENSP00000410315:D852G;ENSP00000391827:D880G;ENSP00000372574:D852G;ENSP00000207726:D880G	ENSP00000207726:D880G	D	-	2	0	XXbac-B461K10.4;MICAL3	16727715	0.998000	0.40836	0.020000	0.16555	0.653000	0.38743	3.029000	0.49712	0.945000	0.37605	0.533000	0.62120	GAT	MICAL3	-	NULL		0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	T			18347715	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	missense	SNP	0.829	C
KMT2A	4297	genome.wustl.edu	37	11	118377304	118377304	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr11:118377304G>T	ENST00000389506.5	+	27	10688	c.10688G>T	c.(10687-10689)aGt>aTt	p.S3563I	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3566I|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3525I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3563					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTGCGGACCAGTTCTTCTGAA	0.502																																																	0													102.0	97.0	98.0					11																	118377304		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10688G>T	11.37:g.118377304G>T	ENSP00000374157:p.Ser3563Ile		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S3563I	ENST00000389506.5	37	c.10688	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562944	0.27915	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82255	-1.59;-1.59;-1.56	5.85	3.9	0.45041	.	0.334486	0.27595	N	0.018674	T	0.67878	0.2940	N	0.22421	0.69	0.25324	N	0.989096	P;P	0.39964	0.697;0.697	B;B	0.32289	0.143;0.143	T	0.59883	-0.7370	10	0.46703	T	0.11	.	9.6955	0.40154	0.0708:0.2937:0.6355:0.0	.	3566;3563	E9PQG7;Q03164	.;MLL1_HUMAN	I	3566;3563;3525;2473	ENSP00000436786:S3566I;ENSP00000374157:S3563I;ENSP00000346516:S3525I	ENSP00000346516:S3525I	S	+	2	0	MLL	117882514	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.446000	0.52928	0.741000	0.32674	0.585000	0.79938	AGT	MLL	-	pirsf_MeTrfase_trithorax		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118377304	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	T
MT-CO2	4513	genome.wustl.edu	37	M	7854	7854	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrM:7854T>G	ENST00000361739.1	+	1	269	c.269T>G	c.(268-270)gTc>gGc	p.V90G	MT-TG_ENST00000387429.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	90					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AACAGACGAGGTCAACGATCC	0.498																																																	0																																										SO:0001583	missense	4513					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.269T>G	M.37:g.7854T>G	ENSP00000354876:p.Val90Gly		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.V90G	ENST00000361739.1	37	c.269		MT																																																																																			MT-CO2	-	superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2		0.498	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		T	YP_003024029		7854	+1	no_errors	ENST00000361739	ensembl	human	known	70_37	missense	SNP	NULL	G
MYH13	8735	genome.wustl.edu	37	17	10225018	10225018	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:10225018T>G	ENST00000418404.3	-	23	3105	c.2942A>C	c.(2941-2943)aAt>aCt	p.N981T	MYH13_ENST00000252172.4_Missense_Mutation_p.N981T|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	981					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCGGAAAGATTCTTTACCTG	0.368																																																	0													118.0	101.0	106.0					17																	10225018		1826	4084	5910	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2942A>C	17.37:g.10225018T>G	ENSP00000404570:p.Asn981Thr		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N981T	ENST00000418404.3	37	c.2942	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795643	0.70452	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.82711	-1.64	4.16	4.16	0.48862	.	.	.	.	.	D	0.85831	0.5788	M	0.72118	2.19	0.43593	D	0.995947	B;P	0.40875	0.185;0.731	B;P	0.48770	0.109;0.589	D	0.85719	0.1324	9	0.40728	T	0.16	.	13.6559	0.62338	0.0:0.0:0.0:1.0	.	607;981	B4DFX9;Q9UKX3	.;MYH13_HUMAN	T	981;607	ENSP00000252172:N981T	ENSP00000252172:N981T	N	-	2	0	MYH13	10165743	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	7.692000	0.84203	1.872000	0.54250	0.459000	0.35465	AAT	MYH13	-	NULL		0.368	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	T	NM_003802		10225018	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	G
NF1	4763	genome.wustl.edu	37	17	29585383	29585383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:29585383C>T	ENST00000358273.4	+	32	4578	c.4195C>T	c.(4195-4197)Cag>Tag	p.Q1399*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1378*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1399	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCGTTTCCCTCAGAACAGCAT	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)											124.0	113.0	117.0					17																	29585383		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4195C>T	17.37:g.29585383C>T	ENSP00000351015:p.Gln1399*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Q1399*	ENST00000358273.4	37	c.4195	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.798641	0.99697	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.3791	0.90444	0.0:1.0:0.0:0.0	.	.	.	.	X	1399;1378;1044	.	ENSP00000348498:Q1378X	Q	+	1	0	NF1	26609509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.781000	0.95711	0.650000	0.86243	CAG	NF1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29585383	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NFIC	4782	genome.wustl.edu	37	19	3434392	3434392	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:3434392C>G	ENST00000443272.2	+	5	878	c.827C>G	c.(826-828)tCc>tGc	p.S276C	NFIC_ENST00000346156.5_Missense_Mutation_p.S243C|NFIC_ENST00000341919.3_Missense_Mutation_p.S276C|NFIC_ENST00000395111.3_Missense_Mutation_p.S267C|NFIC_ENST00000586919.1_Missense_Mutation_p.S243C|NFIC_ENST00000590282.1_Missense_Mutation_p.S276C|NFIC_ENST00000589123.1_Missense_Mutation_p.S267C	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	276					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGCACCTCCTCCAGTGGGTAA	0.607																																																	0													82.0	74.0	77.0					19																	3434392		2203	4300	6503	SO:0001583	missense	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.827C>G	19.37:g.3434392C>G	ENSP00000396843:p.Ser276Cys		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.S276C	ENST00000443272.2	37	c.827	CCDS59330.1	19	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000461	0.35320	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.54866	0.55;0.55;0.55	3.48	2.44	0.29823	.	0.426926	0.25405	N	0.030907	T	0.49012	0.1532	M	0.71036	2.16	0.39217	D	0.963431	B;B;B;B;B	0.18461	0.028;0.028;0.004;0.023;0.01	B;B;B;B;B	0.21917	0.018;0.037;0.006;0.016;0.006	T	0.47114	-0.9142	10	0.34782	T	0.22	.	9.4743	0.38862	0.0:0.892:0.0:0.108	.	276;276;267;276;267	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	267;267;243;276;276;276	ENSP00000378543:S267C;ENSP00000301935:S243C;ENSP00000342194:S276C	ENSP00000269778:S276C	S	+	2	0	NFIC	3385392	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	4.886000	0.63149	0.673000	0.31224	0.462000	0.41574	TCC	NFIC	-	pfam_CTF/NFI		0.607	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	C	NM_005597		3434392	+1	no_errors	ENST00000443272	ensembl	human	known	70_37	missense	SNP	1.000	G
NUP62	23636	genome.wustl.edu	37	19	50411685	50411685	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:50411685C>T	ENST00000596217.1	-	2	3267	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	NUP62_ENST00000597723.1_Silent_p.T384T|NUP62_ENST00000597029.1_Silent_p.T460T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Silent_p.T460T|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Silent_p.T460T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Silent_p.T460T			P37198	NUP62_HUMAN	nucleoporin 62kDa	460					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGGCCCCGGACGTGTTCAGGT	0.582																																																	0													147.0	141.0	143.0					19																	50411685		2203	4300	6503	SO:0001819	synonymous_variant	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1380G>A	19.37:g.50411685C>T			B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	pfam_Nucleoporin_NSP1_C	p.T460	ENST00000596217.1	37	c.1380	CCDS12788.1	19																																																																																			NUP62	-	NULL		0.582	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	C	NM_153719		50411685	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	silent	SNP	0.002	T
OAS3	4940	genome.wustl.edu	37	12	113403614	113403614	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr12:113403614C>T	ENST00000228928.7	+	12	2648	c.2469C>T	c.(2467-2469)ctC>ctT	p.L823L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	823	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGTGTTCCTCAGCTGCTTCA	0.612																																																	0													31.0	33.0	32.0					12																	113403614		2037	4203	6240	SO:0001819	synonymous_variant	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2469C>T	12.37:g.113403614C>T			Q2HJ14|Q9H3P5	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.L823	ENST00000228928.7	37	c.2469	CCDS44981.1	12																																																																																			OAS3	-	pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N		0.612	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	C			113403614	+1	no_errors	ENST00000228928	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDH20	64881	genome.wustl.edu	37	13	61987573	61987574	+	Nonsense_Mutation	DNP	TC	TC	CA			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr13:61987573_61987574TC>CA	ENST00000409186.1	-	5	2763_2764	c.658_659GA>TG	c.(658-660)GAa>TGa	p.E220*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.E220*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGTGCATTTTCCGGGACCCAC	0.515																																																	0																																										SO:0001587	stop_gained	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.658_659delinsCA	13.37:g.61987573_61987574delinsCA	ENSP00000386653:p.Glu220*		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E220G|p.E220*	ENST00000409186.1	37	c.659|c.658	CCDS9442.2	13																																																																																			PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.515	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	T|C	NM_022843		61987573|61987574	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense|nonsense	SNP	1.000	C|A
PDZD4	57595	genome.wustl.edu	37	X	153070078	153070078	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrX:153070078G>A	ENST00000164640.4	-	8	1231	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	PDZD4_ENST00000393758.2_Missense_Mutation_p.P272L|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.P238L	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	347						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGAGGCCCGGGACGTCGCC	0.662																																																	0													31.0	29.0	30.0					X																	153070078		2199	4297	6496	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1040C>T	X.37:g.153070078G>A	ENSP00000164640:p.Pro347Leu		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P347L	ENST00000164640.4	37	c.1040	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	4.128	0.021953	0.08006	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.03982	3.74;3.75;3.96	5.15	5.15	0.70609	.	0.387540	0.22718	U	0.056484	T	0.06325	0.0163	N	0.11427	0.14	0.41527	D	0.988438	B;B;D;D;B	0.71674	0.218;0.002;0.997;0.998;0.343	B;B;P;P;B	0.56700	0.052;0.003;0.746;0.804;0.052	T	0.55636	-0.8110	10	0.10111	T	0.7	-34.5311	16.4277	0.83824	0.0:0.0:1.0:0.0	.	238;353;347;272;251	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	L	347;272;251;238	ENSP00000164640:P347L;ENSP00000377355:P272L;ENSP00000442033:P238L	ENSP00000164640:P347L	P	-	2	0	PDZD4	152723272	0.264000	0.24093	0.335000	0.25508	0.233000	0.25261	1.256000	0.32921	2.134000	0.65973	0.529000	0.55759	CCG	PDZD4	-	NULL		0.662	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	G	NM_032512		153070078	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	missense	SNP	0.410	A
GATB	5188	genome.wustl.edu	37	4	152640600	152640600	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr4:152640600G>A	ENST00000515812.1	-	3	434	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	PET112_ENST00000512306.1_Missense_Mutation_p.H140Y|PET112_ENST00000263985.6_Missense_Mutation_p.H140Y																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TAGAAGTAGTGCTTCCTGTCA	0.542																																																	0													203.0	173.0	183.0					4																	152640600		2203	4300	6503	SO:0001583	missense	5188																														ENST00000515812.1:c.418C>T	4.37:g.152640600G>A	ENSP00000426859:p.His140Tyr			Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.H140Y	ENST00000515812.1	37	c.418		4	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823202	0.90873	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.52754	0.69;0.65;0.77	5.66	5.66	0.87406	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84634	0.0691	10	0.87932	D	0	-16.9471	19.7375	0.96212	0.0:0.0:1.0:0.0	.	140;140	D6RDU9;O75879	.;GATB_HUMAN	Y	140	ENSP00000263985:H140Y;ENSP00000426859:H140Y;ENSP00000420831:H140Y	ENSP00000263985:H140Y	H	-	1	0	PET112	152860050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.706000	0.98722	2.673000	0.90976	0.655000	0.94253	CAC	PET112	-	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu		0.542	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	G			152640600	-1	no_errors	ENST00000263985	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIRT	644139	genome.wustl.edu	37	17	10728889	10728889	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:10728889C>A	ENST00000580256.2	-	2	712	c.74G>T	c.(73-75)aGc>aTc	p.S25I		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	25						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGCGGTCTGGCTGGGCAGCAG	0.592																																																	0													26.0	27.0	26.0					17																	10728889		1958	4143	6101	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.74G>T	17.37:g.10728889C>A	ENSP00000462046:p.Ser25Ile		B7Z648	Missense_Mutation	SNP	NULL	p.S25I	ENST00000580256.2	37	c.74	CCDS45614.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601598	0.87055	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.66982	0.2845	L	0.29908	0.895	0.52501	D	0.999951	D	0.89917	1.0	D	0.87578	0.998	T	0.69254	-0.5193	8	0.87932	D	0	-15.3573	16.8609	0.86018	0.0:1.0:0.0:0.0	.	25	P0C851	PIRT_HUMAN	I	25	.	ENSP00000408936:S25I	S	-	2	0	PIRT	10669614	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.935000	0.70145	2.840000	0.97914	0.655000	0.94253	AGC	PIRT	-	NULL		0.592	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	C	NM_001101387		10728889	-1	no_errors	ENST00000580256	ensembl	human	known	70_37	missense	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2150481	2150481	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr16:2150481G>A	ENST00000262304.4	-	27	9692	c.9484C>T	c.(9484-9486)Cgc>Tgc	p.R3162C	PKD1_ENST00000423118.1_Missense_Mutation_p.R3162C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3162	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCTGTTGCGGTGGAAGGCT	0.647																																																	0													53.0	50.0	51.0					16																	2150481		2195	4293	6488	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9484C>T	16.37:g.2150481G>A	ENSP00000262304:p.Arg3162Cys		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R3162C	ENST00000262304.4	37	c.9484	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415992	0.83449	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.75050	-0.9;-0.9	4.73	4.73	0.59995	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93023	0.6442	10	0.87932	D	0	.	12.9383	0.58327	0.0:0.0:0.838:0.162	.	3162;3162	P98161-3;P98161	.;PKD1_HUMAN	C	3162;3162;2497	ENSP00000262304:R3162C;ENSP00000399501:R3162C	ENSP00000262304:R3162C	R	-	1	0	PKD1	2090482	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.945000	0.70226	2.443000	0.82685	0.555000	0.69702	CGC	PKD1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2150481	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	1.000	A
PML	5371	genome.wustl.edu	37	15	74287202	74287202	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr15:74287202C>T	ENST00000268058.3	+	1	145	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	PML_ENST00000268059.6_Missense_Mutation_p.R17W|STOML1_ENST00000316900.5_5'Flank|PML_ENST00000354026.6_Missense_Mutation_p.R17W|PML_ENST00000565898.1_Missense_Mutation_p.R17W|PML_ENST00000436891.3_Missense_Mutation_p.R17W|PML_ENST00000567543.1_Missense_Mutation_p.R17W|STOML1_ENST00000316911.6_5'Flank|PML_ENST00000569965.1_Missense_Mutation_p.R17W|STOML1_ENST00000564777.1_5'Flank|PML_ENST00000395132.2_Missense_Mutation_p.R17W|PML_ENST00000563500.1_Missense_Mutation_p.R17W|PML_ENST00000359928.4_Missense_Mutation_p.R17W|PML_ENST00000564428.1_Missense_Mutation_p.R17W|PML_ENST00000569477.1_Missense_Mutation_p.R17W|PML_ENST00000435786.2_Missense_Mutation_p.R17W|STOML1_ENST00000541638.1_5'Flank|STOML1_ENST00000561656.1_5'Flank|PML_ENST00000395135.3_Missense_Mutation_p.R17W|STOML1_ENST00000359750.4_5'Flank	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	17	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGACCCCGCCCGGCCCCAGGA	0.657			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													4.0	5.0	5.0					15																	74287202		2058	4060	6118	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.49C>T	15.37:g.74287202C>T	ENSP00000268058:p.Arg17Trp		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R17W	ENST00000268058.3	37	c.49	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902012	0.52227	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.44482	0.92	4.16	2.17	0.27698	.	2.625390	0.01380	N	0.012886	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	D;D;D;D;D;D;D;D;P;D;D	0.71674	0.992;0.995;0.995;0.997;0.979;0.998;0.997;0.99;0.741;0.991;0.989	B;P;P;P;B;P;P;P;B;P;B	0.49953	0.332;0.533;0.533;0.533;0.252;0.533;0.627;0.627;0.017;0.533;0.332	T	0.30001	-0.9993	10	0.59425	D	0.04	-0.9568	5.8746	0.18822	0.0:0.7461:0.0:0.2539	.	17;17;17;17;17;17;17;17;17;17;20	P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	PML_HUMAN;.;.;.;.;.;.;.;.;.;.	W	17	ENSP00000268058:R17W	ENSP00000268058:R17W	R	+	1	2	PML	72074255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.507000	0.22675	0.640000	0.30582	-0.345000	0.07892	CGG	PML	-	NULL		0.657	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	C	NM_002675		74287202	+1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.000	T
RDM1	201299	genome.wustl.edu	37	17	34251737	34251737	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:34251737C>G	ENST00000293273.6	-	4	484	c.439G>C	c.(439-441)Gat>Cat	p.D147H	RDM1_ENST00000394527.1_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394529.3_Missense_Mutation_p.D124H|RDM1_ENST00000430160.2_Missense_Mutation_p.D124H|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394528.3_Missense_Mutation_p.D147H|RDM1_ENST00000431884.2_Missense_Mutation_p.D147H|RDM1_ENST00000419453.2_Missense_Mutation_p.D124H	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	147					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCATGCTATCTTCATTTTCC	0.443								Other identified genes with known or suspected DNA repair function																																									0													89.0	83.0	85.0					17																	34251737		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.439G>C	17.37:g.34251737C>G	ENSP00000293273:p.Asp147His		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom	p.D147H	ENST00000293273.6	37	c.439	CCDS11301.1	17	.	.	.	.	.	.	.	.	.	.	C	6.886	0.533014	0.13188	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884;ENST00000430160;ENST00000394528	T;T;T;T;T	0.31769	1.49;1.49;1.48;1.48;1.49	3.07	1.04	0.20106	.	0.819224	0.10484	N	0.669176	T	0.34048	0.0884	L	0.51422	1.61	0.09310	N	0.999998	P;P;P;P;P;P	0.48503	0.832;0.846;0.911;0.873;0.884;0.799	P;B;P;P;P;P	0.49799	0.621;0.386;0.584;0.521;0.622;0.487	T	0.17258	-1.0375	10	0.56958	D	0.05	-1.5465	6.8168	0.23835	0.0:0.7417:0.0:0.2583	.	124;147;124;147;147;124	B4DZ74;Q8NG50-5;Q8NG50-2;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;RDM1_HUMAN;.	H	147;26;124;147;124;147	ENSP00000293273:D147H;ENSP00000378037:D124H;ENSP00000391290:D147H;ENSP00000413421:D124H;ENSP00000378036:D147H	ENSP00000293273:D147H	D	-	1	0	RDM1	31275850	0.114000	0.22134	0.565000	0.28409	0.047000	0.14425	0.551000	0.23361	0.628000	0.30357	0.585000	0.79938	GAT	RDM1	-	pfam_Rad52_Rad22		0.443	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDM1	HGNC	protein_coding	OTTHUMT00000256588.2	C	NM_145654		34251737	-1	no_errors	ENST00000293273	ensembl	human	known	70_37	missense	SNP	0.198	G
REN	5972	genome.wustl.edu	37	1	204131262	204131262	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:204131262C>G	ENST00000272190.8	-	2	156	c.128G>C	c.(127-129)cGa>cCa	p.R43P	REN_ENST00000367195.2_Missense_Mutation_p.R43P	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	43					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGGCTTTCTCGGATTGAGGG	0.567											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134.0	111.0	119.0					1																	204131262		2203	4300	6503	SO:0001583	missense	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.128G>C	1.37:g.204131262C>G	ENSP00000272190:p.Arg43Pro	2142	Q6FI38|Q6T5C2	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.R43P	ENST00000272190.8	37	c.128	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755137	0.69648	.	.	ENSG00000143839	ENST00000367195;ENST00000272190	D;D	0.85556	-2.0;-2.0	5.22	3.31	0.37934	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.057701	0.64402	D	0.000002	D	0.85596	0.5733	N	0.24115	0.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.86424	0.1756	10	0.87932	D	0	.	10.8312	0.46661	0.0:0.8413:0.0:0.1587	.	43	P00797	RENI_HUMAN	P	43	ENSP00000356163:R43P;ENSP00000272190:R43P	ENSP00000272190:R43P	R	-	2	0	REN	202397885	1.000000	0.71417	0.878000	0.34440	0.810000	0.45777	4.757000	0.62213	1.324000	0.45282	0.561000	0.74099	CGA	REN	-	pfam_Propep_A1,superfamily_Peptidase_aspartic		0.567	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	C	NM_000537		204131262	-1	no_errors	ENST00000272190	ensembl	human	known	70_37	missense	SNP	0.946	G
RRM1	6240	genome.wustl.edu	37	11	4116010	4116010	+	5'Flank	SNP	C	C	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr11:4116010C>A	ENST00000300738.5	+	0	0				RRM1_ENST00000423050.2_5'Flank	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1						cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CGAGTAACGTCATTCGAACCC	0.622																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												0																																										SO:0001631	upstream_gene_variant	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361		11.37:g.4116010C>A	Exception_encountered		Q9UNN2	RNA	SNP	-	NULL	ENST00000300738.5	37	NULL	CCDS7750.1	11																																																																																			RRM1	-	-		0.622	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	C	NM_001033		4116010	+1	no_errors	ENST00000532710	ensembl	human	known	70_37	rna	SNP	0.866	A
RSPH6A	81492	genome.wustl.edu	37	19	46305454	46305454	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr19:46305454C>G	ENST00000221538.3	-	4	1864	c.1722G>C	c.(1720-1722)gaG>gaC	p.E574D	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E310D|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E574D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	574	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						catctgccttctcttcctcct	0.622																																																	0													111.0	73.0	86.0					19																	46305454		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1722G>C	19.37:g.46305454C>G	ENSP00000221538:p.Glu574Asp		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.E574D	ENST00000221538.3	37	c.1722	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748680	0.30955	.	.	ENSG00000104941	ENST00000221538	T	0.19806	2.12	4.27	2.08	0.27032	.	0.108659	0.64402	D	0.000011	T	0.15912	0.0383	L	0.48986	1.54	0.27895	N	0.939171	P	0.41978	0.767	B	0.38985	0.287	T	0.08827	-1.0703	10	0.26408	T	0.33	-9.2878	6.3085	0.21151	0.0:0.764:0.0:0.236	.	574	Q9H0K4	RSH6A_HUMAN	D	574	ENSP00000221538:E574D	ENSP00000221538:E574D	E	-	3	2	RSPH6A	50997294	0.980000	0.34600	1.000000	0.80357	0.407000	0.30961	0.054000	0.14205	0.710000	0.31997	-0.390000	0.06520	GAG	RSPH6A	-	pfam_Radial_spoke		0.622	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	C			46305454	-1	no_errors	ENST00000221538	ensembl	human	known	70_37	missense	SNP	1.000	G
SELE	6401	genome.wustl.edu	37	1	169695912	169695912	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:169695912G>A	ENST00000333360.7	-	11	1820	c.1681C>T	c.(1681-1683)Ctt>Ttt	p.L561F	SELE_ENST00000367776.1_Missense_Mutation_p.L498F|SELE_ENST00000367782.4_Missense_Mutation_p.L498F|SELE_ENST00000367780.4_Missense_Mutation_p.L436F|SELE_ENST00000367775.1_Missense_Mutation_p.L436F|SELE_ENST00000367777.1_Missense_Mutation_p.L498F|SELE_ENST00000367779.4_Missense_Mutation_p.L435F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.L498F|SELE_ENST00000367774.1_Missense_Mutation_p.L435F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	561					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCAGCAGAAAGTCCAGCTACC	0.458																																																	0													91.0	75.0	80.0					1																	169695912		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1681C>T	1.37:g.169695912G>A	ENSP00000331736:p.Leu561Phe		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.L561F	ENST00000333360.7	37	c.1681	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661069	0.47572	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.22336	2.02;1.96;2.17;1.96;1.99;1.96;2.17;2.02;1.96	5.62	4.65	0.58169	.	0.236591	0.22041	N	0.065447	T	0.28466	0.0704	M	0.71581	2.175	0.21325	N	0.999722	D	0.67145	0.996	D	0.63283	0.913	T	0.03121	-1.1070	10	0.54805	T	0.06	-20.0904	11.0264	0.47746	0.0:0.0:0.8149:0.1851	.	561	P16581	LYAM2_HUMAN	F	498;498;436;435;561;498;436;498;435	ENSP00000356755:L498F;ENSP00000356756:L498F;ENSP00000356754:L436F;ENSP00000356753:L435F;ENSP00000331736:L561F;ENSP00000356751:L498F;ENSP00000356749:L436F;ENSP00000356750:L498F;ENSP00000356748:L435F	ENSP00000331736:L561F	L	-	1	0	SELE	167962536	0.929000	0.31497	0.931000	0.37212	0.034000	0.12701	2.791000	0.47829	2.648000	0.89879	0.650000	0.86243	CTT	SELE	-	NULL		0.458	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1	G	NM_000450		169695912	-1	no_errors	ENST00000333360	ensembl	human	known	70_37	missense	SNP	0.900	A
SGSM2	9905	genome.wustl.edu	37	17	2276743	2276743	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:2276743C>T	ENST00000426855.2	+	16	2076	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	SGSM2_ENST00000574563.1_Missense_Mutation_p.S634L|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.S679L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	634	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AAGTTCTCCTCAGGCAGCAGC	0.652																																																	0													85.0	69.0	74.0					17																	2276743		2203	4300	6503	SO:0001583	missense	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1901C>T	17.37:g.2276743C>T	ENSP00000415107:p.Ser634Leu		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.S679L	ENST00000426855.2	37	c.2036	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	c	36	5.637196	0.96693	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.15952	2.38;2.41	5.8	5.8	0.92144	Rab-GAP/TBC domain (3);	0.120977	0.64402	D	0.000015	T	0.44993	0.1320	M	0.81682	2.555	0.80722	D	1	P;D;P	0.67145	0.945;0.996;0.922	P;P;P	0.62740	0.713;0.906;0.511	T	0.41342	-0.9514	10	0.87932	D	0	-9.5365	19.0443	0.93013	0.0:1.0:0.0:0.0	.	634;634;679	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	L	679;634	ENSP00000268989:S679L;ENSP00000415107:S634L	ENSP00000268989:S679L	S	+	2	0	SGSM2	2223493	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.441000	0.80485	2.750000	0.94351	0.556000	0.70494	TCA	SGSM2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.652	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	C	NM_014853		2276743	+1	no_errors	ENST00000268989	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0100	9703	genome.wustl.edu	37	17	26940567	26940567	+	IGR	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:26940567G>A	ENST00000528896.2	-	0	7407				SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.A72V|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.A71V|SGK494_ENST00000301037.5_Missense_Mutation_p.A72V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGTACTGGGGCTGGCTTTAG	0.547											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74.0	81.0	79.0					17																	26940567		2203	4300	6503	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940567G>A		790	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A72V	ENST00000528896.2	37	c.215	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162199	0.21538	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T	0.68624	-0.34;1.43	4.59	3.61	0.41365	.	0.065649	0.64402	D	0.000019	T	0.45975	0.1369	N	0.17082	0.46	0.25569	N	0.986914	B;B	0.20550	0.046;0.024	B;B	0.21360	0.034;0.008	T	0.21314	-1.0249	10	0.22109	T	0.4	-7.816	9.5743	0.39447	0.1006:0.0:0.8994:0.0	.	72;72	E9PMD0;Q96LW2	.;SG494_HUMAN	V	72	ENSP00000301037:A72V;ENSP00000434603:A72V	ENSP00000301037:A72V	A	-	2	0	AC005726.6;RP11-192H23.4	23964694	0.942000	0.31987	0.964000	0.40570	0.440000	0.31957	1.375000	0.34295	2.278000	0.76064	0.655000	0.94253	GCC	SGK494	-	NULL		0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK494	Uniprot_genename	protein_coding	OTTHUMT00000390571.3	G	NM_014680		26940567	-1	no_errors	ENST00000301037	ensembl	human	known	70_37	missense	SNP	0.735	A
SLAMF1	6504	genome.wustl.edu	37	1	160593894	160593894	+	Missense_Mutation	SNP	C	C	T	rs371704387		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:160593894C>T	ENST00000302035.6	-	4	1131	c.782G>A	c.(781-783)aGa>aAa	p.R261K	SLAMF1_ENST00000538290.1_Missense_Mutation_p.R261K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R261K|SLAMF1_ENST00000235739.5_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	261					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACCTCTTCTTCTCAACTGTAG	0.453																																																	0								C	LYS/ARG	0,4406		0,0,2203	203.0	184.0	191.0		782	1.2	0.2	1		191	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	26	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	261/336	160593894	1,13005	2203	4300	6503	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.782G>A	1.37:g.160593894C>T	ENSP00000306190:p.Arg261Lys		Q5W172|Q9HBE8	Missense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like	p.R261K	ENST00000302035.6	37	c.782	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165028	0.21538	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000538290;ENST00000355199	T;T;T	0.54479	0.57;0.57;0.57	3.65	1.24	0.21308	.	1.539810	0.04001	N	0.296491	T	0.20251	0.0487	L	0.42686	1.345	0.09310	N	1	B	0.26902	0.163	B	0.20384	0.029	T	0.09228	-1.0684	10	0.26408	T	0.33	-21.2777	5.1415	0.14961	0.0:0.6463:0.0:0.3537	.	261	Q13291	SLAF1_HUMAN	K	261	ENSP00000306190:R261K;ENSP00000438406:R261K;ENSP00000347333:R261K	ENSP00000306190:R261K	R	-	2	0	SLAMF1	158860518	0.972000	0.33761	0.187000	0.23214	0.010000	0.07245	1.600000	0.36762	0.302000	0.22762	-0.157000	0.13467	AGA	SLAMF1	-	NULL		0.453	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	C			160593894	-1	no_errors	ENST00000302035	ensembl	human	known	70_37	missense	SNP	0.255	T
SLC16A3	9123	genome.wustl.edu	37	17	80195676	80195676	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:80195676A>G	ENST00000581287.1	+	3	3352	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	SLC16A3_ENST00000392339.1_Missense_Mutation_p.M344V|SLC16A3_ENST00000392341.1_Missense_Mutation_p.M344V|SLC16A3_ENST00000582743.1_Missense_Mutation_p.M344V	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	344					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CGAGGTGCTCATGGCCATCGT	0.662																																					Pancreas(52;652 1135 19190 37282 52456)												0													41.0	31.0	35.0					17																	80195676		2197	4296	6493	SO:0001583	missense	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1030A>G	17.37:g.80195676A>G	ENSP00000463978:p.Met344Val		B3KXG8|Q2M1P8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.M344V	ENST00000581287.1	37	c.1030	CCDS11804.1	17	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768453	0.90020	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.22134	1.97;1.97	5.95	5.95	0.96441	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.60845	1.875	0.80722	D	1	B;D	0.61697	0.137;0.99	B;D	0.83275	0.246;0.996	T	0.10337	-1.0634	10	0.20046	T	0.44	.	15.5912	0.76530	1.0:0.0:0.0:0.0	.	344;344	Q53G91;O15427	.;MOT4_HUMAN	V	344	ENSP00000376152:M344V;ENSP00000376150:M344V	ENSP00000376150:M344V	M	+	1	0	SLC16A3	77788965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.262000	0.95591	2.280000	0.76307	0.460000	0.39030	ATG	SLC16A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.662	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1	A	NM_004207		80195676	+1	no_errors	ENST00000392339	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC25A5	292	genome.wustl.edu	37	X	118603747	118603747	+	Missense_Mutation	SNP	A	A	T	rs141428607		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chrX:118603747A>T	ENST00000317881.8	+	2	351	c.235A>T	c.(235-237)Atc>Ttc	p.I79F	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	79					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGCCAATGTCATCAGATACTT	0.493																																																	0													131.0	126.0	128.0					X																	118603747		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.235A>T	X.37:g.118603747A>T	ENSP00000360671:p.Ile79Phe		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.I79F	ENST00000317881.8	37	c.235	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400958	0.83120	.	.	ENSG00000005022	ENST00000317881	T	0.79749	-1.3	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.93550	3.43	0.09310	P	0.99999999248091	D	0.62365	0.991	P	0.58172	0.834	D	0.94173	0.7425	9	0.87932	D	0	.	12.1849	0.54231	1.0:0.0:0.0:0.0	.	79	P05141	ADT2_HUMAN	F	79	ENSP00000360671:I79F	ENSP00000360671:I79F	I	+	1	0	SLC25A5	118487775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.811000	0.91954	1.622000	0.50330	0.430000	0.28490	ATC	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	A	NM_001152		118603747	+1	no_errors	ENST00000317881	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC6A19	340024	genome.wustl.edu	37	5	1219645	1219645	+	Silent	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr5:1219645C>T	ENST00000304460.10	+	10	1460	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	468					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACATTCCTCATTGGCTTCA	0.622																																																	0													145.0	121.0	129.0					5																	1219645		2203	4300	6503	SO:0001819	synonymous_variant	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1404C>T	5.37:g.1219645C>T			A8K446	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L468	ENST00000304460.10	37	c.1404	CCDS34130.1	5																																																																																			SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	C	XM_291120		1219645	+1	no_errors	ENST00000304460	ensembl	human	known	70_37	silent	SNP	0.001	T
SMAD4	4089	genome.wustl.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																																	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	GRCh37	CM004254	SMAD4	M							167.0	138.0	148.0					18																	48591919		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R361H	ENST00000342988.3	37	c.1082	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	G	NM_005359		48591919	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	A
SPNS1	83985	genome.wustl.edu	37	16	28995555	28995555	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr16:28995555G>A	ENST00000311008.11	+	12	1899	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	LAT_ENST00000354453.4_5'Flank|LAT_ENST00000566177.1_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.D435N|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000334536.8_Missense_Mutation_p.D456N|LAT_ENST00000454369.2_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.D434N|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000565975.1_Missense_Mutation_p.D553N	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	508					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCACAGACGACCGGATTGT	0.652																																																	0													35.0	37.0	36.0					16																	28995555		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1522G>A	16.37:g.28995555G>A	ENSP00000309945:p.Asp508Asn		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D508N	ENST00000311008.11	37	c.1522	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453596	0.63290	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.33865	1.84;1.39;1.39;1.86	4.45	4.45	0.53987	.	0.201389	0.41823	D	0.000808	T	0.31827	0.0809	N	0.22421	0.69	0.42059	D	0.991155	B;B;D	0.56287	0.231;0.041;0.975	B;B;P	0.47891	0.01;0.004;0.56	T	0.07927	-1.0747	10	0.40728	T	0.16	.	14.6389	0.68708	0.0:0.0:1.0:0.0	.	434;508;456	Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;SPNS1_HUMAN;.	N	508;456;434;435	ENSP00000309945:D508N;ENSP00000335494:D456N;ENSP00000306050:D434N;ENSP00000318228:D435N	ENSP00000309945:D508N	D	+	1	0	SPNS1	28903056	1.000000	0.71417	0.896000	0.35187	0.060000	0.15804	6.616000	0.74205	2.311000	0.77944	0.655000	0.94253	GAC	SPNS1	-	NULL		0.652	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	G	NM_032038		28995555	+1	no_errors	ENST00000311008	ensembl	human	known	70_37	missense	SNP	0.995	A
TDRKH	11022	genome.wustl.edu	37	1	151752566	151752566	+	Silent	SNP	G	G	A	rs373154310	byFrequency	TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:151752566G>A	ENST00000368822.1	-	4	915	c.282C>T	c.(280-282)ggC>ggT	p.G94G	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Silent_p.G90G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Silent_p.G94G|TDRKH_ENST00000458431.2_Silent_p.G94G|TDRKH_ENST00000368827.6_Silent_p.G94G|TDRKH_ENST00000368824.3_Silent_p.G94G			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	94	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGCTCATCGCCTACATCCT	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		19665	0.002		0.0	False		,,,				2504	0.0																0													173.0	174.0	174.0					1																	151752566		2084	4228	6312	SO:0001819	synonymous_variant	11022			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.282C>T	1.37:g.151752566G>A			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.G94	ENST00000368822.1	37	c.282	CCDS41394.1	1																																																																																			TDRKH	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.502	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2	G	NM_006862		151752566	-1	no_errors	ENST00000368822	ensembl	human	known	70_37	silent	SNP	0.714	A
TMCC2	9911	genome.wustl.edu	37	1	205238339	205238339	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:205238339G>A	ENST00000358024.3	+	3	1398	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	TMCC2_ENST00000545499.1_Missense_Mutation_p.E259K|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.E97K|TMCC2_ENST00000330675.7_Missense_Mutation_p.E112K	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	337						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAAGTGTTCGAGAAGAAGAA	0.572																																																	0													62.0	51.0	55.0					1																	205238339		2203	4300	6503	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1009G>A	1.37:g.205238339G>A	ENSP00000350718:p.Glu337Lys		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.E337K	ENST00000358024.3	37	c.1009	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.427597	0.96131	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.998;0.999	D	0.89616	0.3845	10	0.87932	D	0	.	19.3957	0.94605	0.0:0.0:1.0:0.0	.	133;97;112;337	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	K	337;259;141;112;97	ENSP00000350718:E337K;ENSP00000437943:E259K;ENSP00000356127:E141K;ENSP00000331842:E112K;ENSP00000329436:E97K	ENSP00000329436:E97K	E	+	1	0	TMCC2	203504962	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.869000	0.99810	2.687000	0.91594	0.462000	0.41574	GAG	TMCC2	-	pfam_Predicted_TM_coiled-coil_2		0.572	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	G	NM_014858		205238339	+1	no_errors	ENST00000358024	ensembl	human	known	70_37	missense	SNP	1.000	A
TOM1L2	146691	genome.wustl.edu	37	17	17801972	17801972	+	Nonsense_Mutation	SNP	G	G	A	rs139022042	byFrequency	TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr17:17801972G>A	ENST00000379504.3	-	3	237	c.154C>T	c.(154-156)Cga>Tga	p.R52*	TOM1L2_ENST00000581396.1_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000540946.1_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000542206.1_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000318094.10_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000395739.4_Nonsense_Mutation_p.R52*|TOM1L2_ENST00000535933.1_Nonsense_Mutation_p.R52*	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	52	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTCAGGGCTCGAATGGCATCC	0.458																																					Melanoma(192;2505 2909 14455 25269)												0													129.0	103.0	112.0					17																	17801972		2203	4300	6503	SO:0001587	stop_gained	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.154C>T	17.37:g.17801972G>A	ENSP00000368818:p.Arg52*		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R52*	ENST00000379504.3	37	c.154	CCDS42270.1	17	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607872	0.87258	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206;ENST00000537091	.	.	.	5.21	5.21	0.72293	.	0.120696	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.5526	13.8658	0.63588	0.0:0.0:0.8476:0.1524	.	.	.	.	X	52	.	ENSP00000312860:R52X	R	-	1	2	TOM1L2	17742697	1.000000	0.71417	0.956000	0.39512	0.995000	0.86356	3.023000	0.49666	2.723000	0.93209	0.655000	0.94253	CGA	TOM1L2	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS		0.458	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	G			17801972	-1	no_errors	ENST00000379504	ensembl	human	known	70_37	nonsense	SNP	0.642	A
CFAP46	54777	genome.wustl.edu	37	10	134647006	134647006	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr10:134647006C>T	ENST00000368586.5	-	50	7073	c.6973G>A	c.(6973-6975)Gat>Aat	p.D2325N	TTC40_ENST00000263170.5_Missense_Mutation_p.D486N	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACTATCTTATCGGCAACCTCA	0.572																																																	0													110.0	110.0	110.0					10																	134647006		2203	4300	6503	SO:0001583	missense	54777																														ENST00000368586.5:c.6973G>A	10.37:g.134647006C>T	ENSP00000357575:p.Asp2325Asn			Missense_Mutation	SNP	NULL	p.D486N	ENST00000368586.5	37	c.1456	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877293	0.51801	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.41400	1.0;1.0	4.32	2.38	0.29361	.	0.558895	0.15413	N	0.263654	T	0.35335	0.0928	M	0.64997	1.995	0.09310	N	0.999996	P	0.41748	0.761	B	0.36464	0.225	T	0.26292	-1.0107	10	0.72032	D	0.01	.	6.1211	0.20154	0.1912:0.7078:0.0:0.101	.	486	Q8IYW2	CJ092_HUMAN	N	2325;486	ENSP00000357575:D2325N;ENSP00000263170:D486N	ENSP00000263170:D486N	D	-	1	0	C10orf93	134496996	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.799000	0.27028	0.251000	0.21505	0.650000	0.86243	GAT	TTC40	-	NULL		0.572	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	C			134647006	-1	no_errors	ENST00000263170	ensembl	human	known	70_37	missense	SNP	0.004	T
TTN	7273	genome.wustl.edu	37	2	179406264	179406264	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr2:179406264C>G	ENST00000591111.1	-	300	92841	c.92617G>C	c.(92617-92619)Gat>Cat	p.D30873H	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23574H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29946H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32514H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23449H|TTN-AS1_ENST00000415561.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23641H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	30873	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCATGCCATCACGGGAAACA	0.458																																																	0													94.0	86.0	89.0					2																	179406264		1935	4131	6066	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92617G>C	2.37:g.179406264C>G	ENSP00000465570:p.Asp30873His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D29946H	ENST00000591111.1	37	c.89836		2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588285	0.86851	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72087	0.3417	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	P;P;P;P	0.58266	0.836;0.836;0.836;0.836	T	0.74343	-0.3696	9	0.87932	D	0	.	19.5319	0.95232	0.0:1.0:0.0:0.0	.	23449;23574;23641;30873	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29946;23449;23641;23574;23446	ENSP00000343764:D29946H;ENSP00000434586:D23449H;ENSP00000340554:D23641H;ENSP00000352154:D23574H	ENSP00000340554:D23641H	D	-	1	0	TTN	179114510	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.814000	0.86154	2.616000	0.88540	0.561000	0.74099	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179406264	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
USP33	23032	genome.wustl.edu	37	1	78189054	78189054	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr1:78189054T>G	ENST00000370793.1	-	13	1790	c.1444A>C	c.(1444-1446)Aca>Cca	p.T482P	USP33_ENST00000370794.3_Missense_Mutation_p.T451P|USP33_ENST00000357428.1_Missense_Mutation_p.T482P|USP33_ENST00000370792.3_Missense_Mutation_p.T482P	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	482	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						CTAATGATTGTTCCATCAAAT	0.333																																					Melanoma(152;72 1870 11110 26780 42647)												0													168.0	147.0	154.0					1																	78189054		2203	4299	6502	SO:0001583	missense	23032			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.1444A>C	1.37:g.78189054T>G	ENSP00000359829:p.Thr482Pro		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.T482P	ENST00000370793.1	37	c.1444	CCDS678.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.409631|4.409631	0.83340|0.83340	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40743|0.40743	0.1129|0.1129	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.51240	.|0.93;0.93;0.943	.|P;P;P	.|0.56343	.|0.721;0.796;0.762	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.46703	.|T	.|0.11	.|.	15.3163|15.3163	0.74081|0.74081	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|482;451;482	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7	.|.;.;UBP33_HUMAN	D|P	86|451;482;482;482	.|ENSP00000359830:T451P;ENSP00000359829:T482P;ENSP00000350009:T482P;ENSP00000359828:T482P	.|ENSP00000350009:T482P	E|T	-|-	3|1	2|0	USP33|USP33	77961642|77961642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.880000|3.880000	0.56145|0.56145	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	GAA|ACA	USP33	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	T	NM_015017		78189054	-1	no_errors	ENST00000357428	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR7	23335	genome.wustl.edu	37	18	54606544	54606544	+	Silent	SNP	T	T	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr18:54606544T>A	ENST00000254442.3	+	25	4195	c.3984T>A	c.(3982-3984)gtT>gtA	p.V1328V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V1295V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1328					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTCAAAGGTTATGGACATCA	0.328																																																	0													50.0	52.0	51.0					18																	54606544		2203	4296	6499	SO:0001819	synonymous_variant	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3984T>A	18.37:g.54606544T>A			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1328	ENST00000254442.3	37	c.3984	CCDS11962.1	18																																																																																			WDR7	-	superfamily_ARM-type_fold		0.328	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	T			54606544	+1	no_errors	ENST00000254442	ensembl	human	known	70_37	silent	SNP	0.956	A
ZFYVE19	84936	genome.wustl.edu	37	15	41099875	41099875	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr15:41099875G>T	ENST00000355341.4	+	1	589	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.G30C	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	30					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCTAGGTCGCGGCGGGACAGT	0.706																																																	0													14.0	18.0	17.0					15																	41099875		2018	4163	6181	SO:0001583	missense	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.88G>T	15.37:g.41099875G>T	ENSP00000347498:p.Gly30Cys		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G30C	ENST00000355341.4	37	c.88	CCDS42025.1	15	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144696	0.37825	.	.	ENSG00000166140	ENST00000355341;ENST00000299173	T;T	0.40476	1.07;1.03	5.01	-10.0	0.00425	.	1.710450	0.03379	N	0.200113	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.003	B;B	0.15870	0.014;0.003	T	0.26360	-1.0105	10	0.66056	D	0.02	.	2.4352	0.04481	0.446:0.2936:0.0962:0.1642	.	30;30	Q96K21-3;Q96K21	.;ZFY19_HUMAN	C	30	ENSP00000347498:G30C;ENSP00000299173:G30C	ENSP00000299173:G30C	G	+	1	0	ZFYVE19	38887167	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.340000	0.00506	-3.047000	0.00261	-1.109000	0.02080	GGC	ZFYVE19	-	NULL		0.706	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	HGNC	protein_coding	OTTHUMT00000418996.1	G	NM_032850		41099875	+1	no_errors	ENST00000355341	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF521	25925	genome.wustl.edu	37	18	22805217	22805217	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A5R3-01A-11D-A28B-09	TCGA-Q1-A5R3-10B-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	683d0637-fdc9-4afd-8338-bb1fdbcb5026	7956e9b1-d201-4a83-8ca2-d1ac1e723685	g.chr18:22805217C>A	ENST00000361524.3	-	4	2813	c.2665G>T	c.(2665-2667)Gac>Tac	p.D889Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.D669Y|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.D889Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	889					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCACAAATGTCGCAGCCGTAC	0.522			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													119.0	111.0	114.0					18																	22805217		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2665G>T	18.37:g.22805217C>A	ENSP00000354794:p.Asp889Tyr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D889Y	ENST00000361524.3	37	c.2665	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638490	0.29157	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.31247	1.5;1.5	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.80982	2.52	0.52099	D	0.999944	D	0.89917	1.0	D	0.87578	0.998	T	0.63642	-0.6591	10	0.72032	D	0.01	-40.4607	20.1184	0.97949	0.0:1.0:0.0:0.0	.	889	Q96K83	ZN521_HUMAN	Y	889;923;889	ENSP00000354794:D889Y;ENSP00000382352:D889Y	ENSP00000354794:D889Y	D	-	1	0	ZNF521	21059215	1.000000	0.71417	0.966000	0.40874	0.857000	0.48899	7.487000	0.81328	2.769000	0.95229	0.655000	0.94253	GAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22805217	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	A
