#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARMC6	93436	genome.wustl.edu	37	19	19168318	19168318	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr19:19168318C>A	ENST00000535612.1	+	9	1819	c.1387C>A	c.(1387-1389)Cag>Aag	p.Q463K	ARMC6_ENST00000269932.6_Missense_Mutation_p.Q438K|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q438K|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q463K|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q370K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	463					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ACTCATCATGCAGGCCCGATC	0.642																																						dbGAP											0													74.0	70.0	72.0					19																	19168318		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1387C>A	19.37:g.19168318C>A	ENSP00000444156:p.Gln463Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q463K	ENST00000535612.1	37	c.1387	CCDS56089.1	19	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	0.024|0.024|0.024	-1.392924|-1.392924|-1.392924	0.01185|0.01185|0.01185	.|.|.	.|.|.	ENSG00000105676|ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000540634|ENST00000379532|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000392336	.|.|T;T;T;T;T	.|.|0.48201	.|.|0.82;0.82;0.82;0.82;0.82	4.09|4.09|4.09	0.417|0.417|0.417	0.16421|0.16421|0.16421	.|.|Armadillo-like helical (1);Armadillo-type fold (1);	.|.|0.378433	.|.|0.26594	.|.|N	.|.|0.023509	T|.|T	0.22513|.|0.22513	0.0543|.|0.0543	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.23174|0.23174|0.23174	N|N|N	0.99818|0.99818|0.99818	.|.|B	.|.|0.06786	.|.|0.001	.|.|B	.|.|0.06405	.|.|0.002	T|.|T	0.25467|.|0.25467	-1.0131|.|-1.0131	5|.|10	.|0.02654|0.05833	.|T|T	.|1|0.94	-7.7776|-7.7776|-7.7776	8.0398|8.0398|8.0398	0.30515|0.30515|0.30515	0.2672:0.5323:0.2005:0.0|0.2672:0.5323:0.2005:0.0|0.2672:0.5323:0.2005:0.0	.|.|.	.|.|463	.|.|Q6NXE6	.|.|ARMC6_HUMAN	E|X|K	106;42|372|438;463;438;370;463	.|.|ENSP00000376147:Q438K;ENSP00000444156:Q463K;ENSP00000269932:Q438K;ENSP00000444341:Q370K;ENSP00000376148:Q463K	.|ENSP00000368847:C372X|ENSP00000269932:Q438K	A|C|Q	+|+|+	2|3|1	0|2|0	ARMC6|ARMC6|ARMC6	19029318|19029318|19029318	0.258000|0.258000|0.258000	0.24033|0.24033|0.24033	0.166000|0.166000|0.166000	0.22797|0.22797|0.22797	0.013000|0.013000|0.013000	0.08279|0.08279|0.08279	0.814000|0.814000|0.814000	0.27239|0.27239|0.27239	0.484000|0.484000|0.484000	0.27630|0.27630|0.27630	-0.277000|-0.277000|-0.277000	0.10078|0.10078|0.10078	GCA|TGC|CAG	ARMC6	-	superfamily_ARM-type_fold	ENSG00000105676		0.642	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	15	0.00	0	C	NM_033415		19168318	19168318	+1	no_errors	ENST00000392336	ensembl	human	known	69_37n	missense	12	63.64	21	SNP	0.087	A
BEST1	7439	genome.wustl.edu	37	11	61727502	61727502	+	Missense_Mutation	SNP	A	A	G	rs147228028		TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr11:61727502A>G	ENST00000378043.4	+	9	1730	c.1087A>G	c.(1087-1089)Acc>Gcc	p.T363A	BEST1_ENST00000526988.1_Silent_p.P324P|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.T303A|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.T276A|BEST1_ENST00000435278.2_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	363					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TATGGGCTCCACCTTCAACAT	0.592																																						dbGAP											0													37.0	37.0	37.0					11																	61727502		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1087A>G	11.37:g.61727502A>G	ENSP00000367282:p.Thr363Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.T303A	ENST00000378043.4	37	c.907	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561899	0.45590	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131	D;D;D	0.97279	-4.2;-4.32;-4.18	5.02	2.59	0.31030	.	0.187536	0.49916	N	0.000138	D	0.94149	0.8123	L	0.53617	1.68	0.80722	D	1	B;B;B	0.24043	0.016;0.009;0.096	B;B;B	0.25884	0.024;0.011;0.064	D	0.88705	0.3218	10	0.36615	T	0.2	-12.7189	7.7179	0.28715	0.7451:0.0:0.2549:0.0	.	276;363;303	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	A	363;276;303	ENSP00000367282:T363A;ENSP00000367281:T276A;ENSP00000399709:T303A	ENSP00000367281:T276A	T	+	1	0	BEST1	61484078	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	3.328000	0.52052	0.306000	0.22856	0.460000	0.39030	ACC	BEST1	-	NULL	ENSG00000167995		0.592	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	21	0.00	0	A	NM_004183		61727502	61727502	+1	no_errors	ENST00000449131	ensembl	human	known	69_37n	missense	14	57.14	20	SNP	1.000	G
C5orf60	285679	genome.wustl.edu	37	5	179071958	179071958	+	Missense_Mutation	SNP	C	C	G	rs7731123	byFrequency	TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr5:179071958C>G	ENST00000448248.2	-	1	89	c.64G>C	c.(64-66)Gac>Cac	p.D22H	C5orf60_ENST00000506142.1_5'UTR	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	22						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						ATAACACTGTCCAGAGGAAAG	0.522																																						dbGAP											0													66.0	64.0	65.0					5																	179071958		692	1591	2283	-	-	-	SO:0001583	missense	0			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.64G>C	5.37:g.179071958C>G	ENSP00000404583:p.Asp22His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	NULL	p.D22H	ENST00000448248.2	37	c.64	CCDS47353.1	5	.	.	.	.	.	.	.	.	.	.	c	3.367	-0.129222	0.06753	.	.	ENSG00000204661	ENST00000448248	T	0.25250	1.81	0.362	-0.723	0.11181	.	.	.	.	.	T	0.15912	0.0383	N	0.08118	0	0.80722	P	0.0	D;D	0.58268	0.982;0.982	P;P	0.50825	0.651;0.651	T	0.23404	-1.0189	7	0.46703	T	0.11	.	.	.	.	rs7731123;rs7731123	22;22	A6NFR6-2;A6NFR6-4	.;.	H	22	ENSP00000404583:D22H	ENSP00000404583:D22H	D	-	1	0	C5orf60	179004564	0.006000	0.16342	0.027000	0.17364	0.069000	0.16628	-0.549000	0.06041	-0.410000	0.07542	0.134000	0.15878	GAC	C5orf60	-	NULL	ENSG00000204661		0.522	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf60	HGNC	protein_coding	OTTHUMT00000372148.2	18	0.00	0	C	NM_001142306		179071958	179071958	-1	no_errors	ENST00000448248	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.027	G
CCDC148	130940	genome.wustl.edu	37	2	159170392	159170392	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr2:159170392C>G	ENST00000283233.5	-	8	1092	c.779G>C	c.(778-780)aGt>aCt	p.S260T	CCDC148_ENST00000409187.1_Missense_Mutation_p.S269T|CCDC148_ENST00000536771.1_Missense_Mutation_p.S174T	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	260										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCTTCTTCACTTAGTTGACA	0.373																																						dbGAP											0													95.0	94.0	94.0					2																	159170392		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.779G>C	2.37:g.159170392C>G	ENSP00000283233:p.Ser260Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	NULL	p.S260T	ENST00000283233.5	37	c.779	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957182	0.18507	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.35421	1.78;1.78;1.31	5.35	-1.45	0.08828	.	.	.	.	.	T	0.32071	0.0817	L	0.55103	1.725	0.26938	N	0.966308	P;P;P;B;B	0.49559	0.925;0.739;0.739;0.447;0.447	P;B;B;B;B	0.44561	0.453;0.291;0.291;0.202;0.202	T	0.34477	-0.9827	9	0.17369	T	0.5	-2.102	10.9472	0.47308	0.0:0.5107:0.0:0.4893	.	174;108;108;269;260	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	T	260;108;269;174	ENSP00000283233:S260T;ENSP00000386674:S269T;ENSP00000443740:S174T	ENSP00000283233:S260T	S	-	2	0	CCDC148	158878638	0.999000	0.42202	0.981000	0.43875	0.955000	0.61496	0.458000	0.21892	-0.195000	0.10382	0.563000	0.77884	AGT	CCDC148	-	NULL	ENSG00000153237		0.373	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	39	0.00	0	C	NM_138803		159170392	159170392	-1	no_errors	ENST00000283233	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.947	G
CLTA	1211	genome.wustl.edu	37	9	36211699	36211699	+	Silent	SNP	C	C	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr9:36211699C>T	ENST00000242285.6	+	7	795	c.675C>T	c.(673-675)agC>agT	p.S225S	CLTA_ENST00000540080.1_Silent_p.S143S|CLTA_ENST00000538225.1_Silent_p.S207S|CLTA_ENST00000466396.1_Silent_p.S173S|CLTA_ENST00000396603.2_Silent_p.S213S|CLTA_ENST00000433436.2_Silent_p.S225S|CLTA_ENST00000470744.1_Silent_p.S207S|CLTA_ENST00000345519.5_Silent_p.S195S			P09496	CLCA_HUMAN	clathrin, light chain A	225					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			CCAAGTCTAGCAAGCAGGCCA	0.572																																						dbGAP											0													92.0	84.0	86.0					9																	36211699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"""clathrin, light polypeptide (Lca)"""			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.675C>T	9.37:g.36211699C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Silent	SNP	pfam_Clathrin_L-chain	p.S225	ENST00000242285.6	37	c.675	CCDS6601.1	9																																																																																			CLTA	-	pfam_Clathrin_L-chain	ENSG00000122705		0.572	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTA	HGNC	protein_coding	OTTHUMT00000052405.1	36	0.00	0	C	NM_007096		36211699	36211699	+1	no_errors	ENST00000242285	ensembl	human	known	69_37n	silent	22	31.25	10	SNP	1.000	T
CROCCP2	84809	genome.wustl.edu	37	1	16949782	16949782	+	lincRNA	SNP	T	T	C	rs9663022	byFrequency	TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr1:16949782T>C	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTACAGGGAATGGAAATGGTA	0.448																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16949782T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.448	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	11	0.00	0	T	NR_026752.1		16949782	16949782	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.008	C
DMD	1756	genome.wustl.edu	37	X	31200885	31200885	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chrX:31200885A>T	ENST00000357033.4	-	68	10150	c.9944T>A	c.(9943-9945)aTc>aAc	p.I3315N	DMD_ENST00000361471.4_Missense_Mutation_p.I247N|DMD_ENST00000378680.2_Missense_Mutation_p.I247N|DMD_ENST00000343523.2_Missense_Mutation_p.I855N|DMD_ENST00000541735.1_Missense_Mutation_p.I855N|DMD_ENST00000474231.1_Missense_Mutation_p.I855N|DMD_ENST00000378707.3_Missense_Mutation_p.I855N|DMD_ENST00000359836.1_Missense_Mutation_p.I855N|DMD_ENST00000378723.3_Missense_Mutation_p.I247N|DMD_ENST00000378677.2_Missense_Mutation_p.I3311N|DMD_ENST00000378702.4_Missense_Mutation_p.I247N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3315	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTTTGCAGATGTTACATTT	0.428																																						dbGAP											0													110.0	96.0	101.0					X																	31200885		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9944T>A	X.37:g.31200885A>T	ENSP00000354923:p.Ile3315Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.I3315N	ENST00000357033.4	37	c.9944	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.462170|4.462170	0.84425|0.84425	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Zinc finger, ZZ-type (4);	.|0.000000	.|0.37669	.|U	.|0.001988	D|D	0.92130|0.92130	0.7505|0.7505	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.991;0.997;0.999;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;0.999;0.988;1.0;0.993;0.999	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.986;0.994;0.998;0.999;0.999;0.999;0.994;0.997;0.998;0.999;0.998;0.997;0.984;0.997;0.979;0.998	D|D	0.92947|0.92947	0.6377|0.6377	5|10	.|0.87932	.|D	.|0	.|.	14.5024|14.5024	0.67732|0.67732	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|247;3307;3315;3311;1974;1971;855;855;855;855;855;3192;247;247;247;247	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	Q|N	1043|3307;1974;1971;247;1011;3311;3315;855;855;3315;3192;855;855;247;855;247;247;105	.|ENSP00000367997:I247N;ENSP00000350765:I1011N;ENSP00000367948:I3311N;ENSP00000354923:I3315N;ENSP00000352894:I855N;ENSP00000340057:I855N;ENSP00000367979:I855N;ENSP00000444119:I855N;ENSP00000367974:I247N;ENSP00000417123:I855N;ENSP00000354464:I247N;ENSP00000367951:I247N;ENSP00000367977:I105N	.|ENSP00000340057:I855N	H|I	-|-	3|2	2|0	DMD|DMD	31110806|31110806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.139000|9.139000	0.94554|0.94554	2.001000|2.001000	0.58596|0.58596	0.486000|0.486000	0.48141|0.48141	CAT|ATC	DMD	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ	ENSG00000198947		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	33	0.00	0	A	NM_004006		31200885	31200885	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92507249	92507249	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr11:92507249G>T	ENST00000298047.6	+	6	4255	c.4238G>T	c.(4237-4239)gGg>gTg	p.G1413V	FAT3_ENST00000525166.1_Missense_Mutation_p.G1263V|FAT3_ENST00000409404.2_Missense_Mutation_p.G1413V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1413	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGGGTGTTGGGACAATTGTC	0.418										TCGA Ovarian(4;0.039)																												dbGAP											0													120.0	115.0	116.0					11																	92507249		1876	4103	5979	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4238G>T	11.37:g.92507249G>T	ENSP00000298047:p.Gly1413Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.G1413V	ENST00000298047.6	37	c.4238		11	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858864	0.91433	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.04502	3.61;3.61;3.61	5.59	5.59	0.84812	.	.	.	.	.	T	0.40595	0.1123	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64266	-0.6448	9	0.87932	D	0	.	19.5708	0.95413	0.0:0.0:1.0:0.0	.	1413	Q8TDW7-3	.	V	1413;1413;1263	ENSP00000298047:G1413V;ENSP00000387040:G1413V;ENSP00000432586:G1263V	ENSP00000298047:G1413V	G	+	2	0	FAT3	92146897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.378000	0.79679	2.625000	0.88918	0.650000	0.86243	GGG	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.418	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		50	0.00	0	G	NM_001008781		92507249	92507249	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	25	91.26	261	SNP	1.000	T
HERC4	26091	genome.wustl.edu	37	10	69695914	69695917	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	TTTG	TTTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr10:69695914_69695917delTTTG	ENST00000395198.3	-	23	2918_2921	c.2671_2674delCAAA	c.(2671-2676)caaaatfs	p.QN891fs	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Frame_Shift_Del_p.QN883fs|HERC4_ENST00000277817.6_Frame_Shift_Del_p.QN781fs|HERC4_ENST00000412272.2_Frame_Shift_Del_p.QN813fs	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	891	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTTACCGATTTTGTTTGTTAACA	0.343																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2671_2674delCAAA	10.37:g.69695918_69695921delTTTG	ENSP00000378624:p.Gln891fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Frame_Shift_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q891fs	ENST00000395198.3	37	c.2674_2671	CCDS41533.1	10																																																																																			HERC4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000148634		0.343	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	66	0.00	0	TTTG	NM_015601		69695914	69695917	-1	no_errors	ENST00000395198	ensembl	human	known	69_37n	frame_shift_del	54	36.05	31	DEL	1.000:0.985:1.000:1.000	-
HLA-C	3107	genome.wustl.edu	37	6	31238886	31238886	+	Missense_Mutation	SNP	A	A	G	rs77935220	byFrequency	TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr6:31238886A>G	ENST00000376228.5	-	3	597	c.583T>C	c.(583-585)Tac>Cac	p.Y195H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y195H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	195	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TTCTCCAGGTATCTGCGGAGC	0.672																																						dbGAP											0													52.0	42.0	45.0					6																	31238886		2202	4298	6500	-	-	-	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.583T>C	6.37:g.31238886A>G	ENSP00000365402:p.Tyr195His	Somatic		WXS	Illumina GAIIx	Phase_IV	O02864|O02958|Q29643|Q9MY30	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.Y232H	ENST00000376228.5	37	c.694	CCDS34393.1	6	94|94	0.04304029304029304|0.04304029304029304	16|16	0.032520325203252036|0.032520325203252036	35|35	0.09668508287292818|0.09668508287292818	17|17	0.02972027972027972|0.02972027972027972	26|26	0.03430079155672823|0.03430079155672823	.|.	9.585|9.585	1.124510|1.124510	0.20959|0.20959	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.01203	.|5.18;5.18	2.71|2.71	-1.2|-1.2	0.09554|0.09554	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.416377	.|0.17377	.|N	.|0.176439	T|T	0.00552|0.00552	0.0018|0.0018	L|L	0.55990|0.55990	1.75|1.75	0.22811|0.22811	N|N	0.998706|0.998706	.|B;B;B;B	.|0.20550	.|0.046;0.006;0.006;0.01	.|B;B;B;B	.|0.31495	.|0.131;0.036;0.059;0.105	T|T	0.41215|0.41215	-0.9521|-0.9521	5|10	.|0.48119	.|T	.|0.1	.|.	6.6487|6.6487	0.22949|0.22949	0.6285:0.0:0.3715:0.0|0.6285:0.0:0.3715:0.0	.|.	.|195;195;195;195	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	T|H	194|195;195;195;232	.|ENSP00000365402:Y195H;ENSP00000372819:Y195H	.|ENSP00000365402:Y195H	I|Y	-|-	2|1	0|0	HLA-C|HLA-C	31346865|31346865	0.004000|0.004000	0.15560|0.15560	0.410000|0.410000	0.26471|0.26471	0.044000|0.044000	0.14063|0.14063	-0.338000|-0.338000	0.07842|0.07842	-0.240000|-0.240000	0.09696|0.09696	0.254000|0.254000	0.18369|0.18369	ATA|TAC	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	ENSG00000204525		0.672	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	21	0.00	0	A	NM_002117		31238886	31238886	-1	no_errors	ENST00000539307	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.878	G
JMJD6	23210	genome.wustl.edu	37	17	74716578	74716578	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr17:74716578A>C	ENST00000397625.4	-	5	1058	c.944T>G	c.(943-945)aTt>aGt	p.I315S	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000445478.2_Missense_Mutation_p.I315S	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	315					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TTGCTTCAAAATCCTGAGAGG	0.547																																						dbGAP											0													70.0	76.0	74.0					17																	74716578		2074	4199	6273	-	-	-	SO:0001583	missense	0			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.944T>G	17.37:g.74716578A>C	ENSP00000380750:p.Ile315Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I315S	ENST00000397625.4	37	c.944	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299443	0.81136	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.69435	-0.4;-0.4	5.61	5.61	0.85477	.	0.096436	0.64402	D	0.000001	T	0.61337	0.2339	L	0.57536	1.79	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.001;0.008	T	0.58267	-0.7666	10	0.09084	T	0.74	-0.7103	15.8611	0.79021	1.0:0.0:0.0:0.0	.	315;315	Q6NYC1;Q6NYC1-3	JMJD6_HUMAN;.	S	315	ENSP00000394085:I315S;ENSP00000380750:I315S	ENSP00000345857:I315S	I	-	2	0	JMJD6	72228173	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.077000	0.94016	2.145000	0.66743	0.529000	0.55759	ATT	JMJD6	-	NULL	ENSG00000070495		0.547	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	22	0.00	0	A	NM_015167		74716578	74716578	-1	no_errors	ENST00000445478	ensembl	human	known	69_37n	missense	12	50.00	12	SNP	1.000	C
KLK13	26085	genome.wustl.edu	37	19	51563338	51563338	+	Silent	SNP	A	A	G			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr19:51563338A>G	ENST00000595793.1	-	3	294	c.252T>C	c.(250-252)gtT>gtC	p.V84V	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Silent_p.V84V|KLK13_ENST00000595547.1_Silent_p.V84V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	84	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGCCTAGGTAAACTTTGAGCC	0.577																																						dbGAP											0													56.0	59.0	58.0					19																	51563338		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.252T>C	19.37:g.51563338A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7UNK6|Q86VI8|Q9Y433	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V84	ENST00000595793.1	37	c.252	CCDS12822.1	19																																																																																			KLK13	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167759		0.577	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	HGNC	protein_coding	OTTHUMT00000464298.2	23	0.00	0	A	NM_015596		51563338	51563338	-1	no_errors	ENST00000156476	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	0.997	G
MDN1	23195	genome.wustl.edu	37	6	90503844	90503844	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr6:90503844C>T	ENST00000369393.3	-	4	752	c.637G>A	c.(637-639)Gat>Aat	p.D213N	MDN1_ENST00000428876.1_Missense_Mutation_p.D213N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	213					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATCAATTCATCACTATTAAAT	0.373																																						dbGAP											0													65.0	67.0	66.0					6																	90503844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.637G>A	6.37:g.90503844C>T	ENSP00000358400:p.Asp213Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D213N	ENST00000369393.3	37	c.637	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250518	0.59212	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19394	3.91;3.91;2.15	5.32	5.32	0.75619	.	0.310366	0.33457	N	0.004889	T	0.08133	0.0203	N	0.19112	0.55	0.45791	D	0.998677	P;B	0.42078	0.77;0.243	B;B	0.37550	0.253;0.063	T	0.15983	-1.0418	10	0.27082	T	0.32	.	19.0116	0.92875	0.0:1.0:0.0:0.0	.	213;213	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	N	213	ENSP00000358400:D213N;ENSP00000413970:D213N;ENSP00000409664:D213N	ENSP00000358400:D213N	D	-	1	0	MDN1	90560565	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.161000	0.77505	2.477000	0.83638	0.557000	0.71058	GAT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.373	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	46	0.00	0	C			90503844	90503844	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	20	57.45	27	SNP	1.000	T
MERTK	10461	genome.wustl.edu	37	2	112740526	112740526	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr2:112740526G>T	ENST00000295408.4	+	8	1509	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L	MERTK_ENST00000409780.1_Missense_Mutation_p.V242L|MERTK_ENST00000421804.2_Missense_Mutation_p.V418L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	418	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGAGAACTGGTGGGCTACCG	0.463																																						dbGAP											0													139.0	132.0	134.0					2																	112740526		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1252G>T	2.37:g.112740526G>T	ENSP00000295408:p.Val418Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V418L	ENST00000295408.4	37	c.1252	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	1.472	-0.559457	0.03967	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.50548	0.74;0.74;0.74	4.8	-3.73	0.04398	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.560896	0.13325	N	0.396397	T	0.19248	0.0462	N	0.11427	0.14	0.28551	N	0.911632	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.02654	T	1	-4.0121	9.2409	0.37495	0.2419:0.5772:0.1809:0.0	.	418	Q12866	MERTK_HUMAN	L	418;418;13;242	ENSP00000295408:V418L;ENSP00000389152:V418L;ENSP00000387277:V242L	ENSP00000295408:V418L	V	+	1	0	MERTK	112456997	0.788000	0.28762	0.935000	0.37517	0.538000	0.34931	-0.189000	0.09629	-0.354000	0.08212	0.508000	0.49915	GTG	MERTK	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153208		0.463	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	43	0.00	0	G			112740526	112740526	+1	no_errors	ENST00000295408	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	0.955	T
MFSD1	64747	genome.wustl.edu	37	3	158543842	158543842	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr3:158543842C>T	ENST00000264266.8	+	14	1389	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	MFSD1_ENST00000392813.4_Missense_Mutation_p.R453C|MFSD1_ENST00000415822.2_Missense_Mutation_p.R492C			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	443					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGTGAATCGTGCCCAGGG	0.418																																					Pancreas(62;1186 1654 36636 37908)	dbGAP											0													152.0	137.0	142.0					3																	158543842		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.1327C>T	3.37:g.158543842C>T	ENSP00000264266:p.Arg443Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R492C	ENST00000264266.8	37	c.1474		3	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240864	0.39598	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266	T;D;T	0.82893	2.09;-1.66;2.11	5.28	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.557534	0.20493	N	0.091251	T	0.75019	0.3793	L	0.39898	1.24	0.36704	D	0.880295	B;B	0.22346	0.068;0.004	B;B	0.15870	0.014;0.013	T	0.75693	-0.3229	10	0.49607	T	0.09	.	10.688	0.45854	0.0:0.8537:0.0:0.1463	.	453;443	C9JS94;Q9H3U5	.;MFSD1_HUMAN	C	492;453;443	ENSP00000403117:R492C;ENSP00000376560:R453C;ENSP00000264266:R443C	ENSP00000264266:R443C	R	+	1	0	MFSD1	160026536	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	1.148000	0.31614	2.620000	0.88729	0.579000	0.79373	CGT	MFSD1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000118855		0.418	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	MFSD1	HGNC	protein_coding	OTTHUMT00000470730.1	74	0.00	0	C	NM_022736		158543842	158543842	+1	no_errors	ENST00000415822	ensembl	human	known	69_37n	missense	58	39.80	39	SNP	0.920	T
KMT2C	58508	genome.wustl.edu	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr7:151962208G>C	ENST00000262189.6	-	8	1317	c.1099C>G	c.(1099-1101)Cat>Gat	p.H367D	KMT2C_ENST00000355193.2_Missense_Mutation_p.H367D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	367					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H367Y(2)									CACATTCCATGATAGTGCTGA	0.448																																						dbGAP											2	Substitution - Missense(2)	breast(2)											408.0	365.0	380.0					7																	151962208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1099C>G	7.37:g.151962208G>C	ENSP00000262189:p.His367Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H367D	ENST00000262189.6	37	c.1099	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101910	0.37048	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99853	-7.18;-7.18	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42964	U	0.000636	D	0.99887	0.9946	M	0.92507	3.315	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.96105	0.9072	10	0.87932	D	0	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	367	Q8NEZ4	MLL3_HUMAN	D	367	ENSP00000262189:H367D;ENSP00000347325:H367D	ENSP00000262189:H367D	H	-	1	0	MLL3	151593141	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	9.813000	0.99286	2.271000	0.75665	0.557000	0.71058	CAT	MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING	ENSG00000055609		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	141	0.00	0	G			151962208	151962208	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	88	23.48	27	SNP	1.000	C
MRS2	57380	genome.wustl.edu	37	6	24409715	24409715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr6:24409715G>T	ENST00000378386.3	+	4	421	c.328G>T	c.(328-330)Gag>Tag	p.E110*	MRS2_ENST00000378353.1_Nonsense_Mutation_p.E110*|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Nonsense_Mutation_p.E110*|MRS2_ENST00000274747.7_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	110						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						ATTATACCAAGAGTTAGGTCT	0.328																																						dbGAP											0													73.0	75.0	75.0					6																	24409715		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.328G>T	6.37:g.24409715G>T	ENSP00000367637:p.Glu110*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Nonsense_Mutation	SNP	NULL	p.E110*	ENST00000378386.3	37	c.328	CCDS4552.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.666791|6.666791	0.97747|0.97747	.|.	.|.	ENSG00000124532|ENSG00000124532	ENST00000378386;ENST00000378353;ENST00000443868|ENST00000446191	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.109889|.	0.64402|.	D|.	0.000010|.	.|T	.|0.69958	.|0.3169	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67169	.|-0.5738	.|4	0.16420|.	T|.	0.52|.	-23.9064|-23.9064	19.5567|19.5567	0.95351|0.95351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	110|61	.|.	ENSP00000367604:E110X|.	E|K	+|+	1|3	0|2	MRS2|MRS2	24517694|24517694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.631000|9.631000	0.98424|0.98424	2.711000|2.711000	0.92665|0.92665	0.563000|0.563000	0.77884|0.77884	GAG|AAG	MRS2	-	NULL	ENSG00000124532		0.328	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MRS2	HGNC	protein_coding	OTTHUMT00000040002.1	55	0.00	0	G			24409715	24409715	+1	no_errors	ENST00000443868	ensembl	human	known	69_37n	nonsense	41	47.44	37	SNP	1.000	T
MXRA5	25878	genome.wustl.edu	37	X	3238507	3238510	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chrX:3238507_3238510delAAAG	ENST00000217939.6	-	5	5370_5373	c.5216_5219delCTTT	c.(5215-5220)tcttttfs	p.SF1739fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1739						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAACTGTGGAAAAGAAAGAGTCTT	0.466																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5216_5219delCTTT	X.37:g.3238511_3238514delAAAG	ENSP00000217939:p.Ser1739fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1739fs	ENST00000217939.6	37	c.5219_5216	CCDS14124.1	X																																																																																			MXRA5	-	NULL	ENSG00000101825		0.466	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	64	0.00	0	AAAG	NM_015419		3238507	3238510	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	frame_shift_del	31	34.04	16	DEL	0.029:0.022:0.000:0.000	-
PRELID1P1	728666	genome.wustl.edu	37	6	126965011	126965011	+	RNA	SNP	C	C	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr6:126965011C>T	ENST00000567272.1	+	0	378									PRELI domain containing 1 pseudogene 1																		CAATGTTGCTCACTCGGTGTA	0.582																																						dbGAP											0																																										-	-	-			0					6q22.32	2012-04-23			ENSG00000217325	ENSG00000217325			43886	pseudogene	pseudogene							Standard	NG_022903		Approved				OTTHUMG00000015520		6.37:g.126965011C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000567272.1	37	NULL		6																																																																																			PRELID1P1	-	-	ENSG00000217325		0.582	PRELID1P1-002	KNOWN	basic	processed_transcript	PRELID1P1	HGNC	pseudogene	OTTHUMT00000436205.1	53	0.00	0	C	NG_022903		126965011	126965011	+1	no_errors	ENST00000567272	ensembl	human	known	69_37n	rna	96	11.11	12	SNP	1.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79324112	79324112	+	Silent	SNP	A	A	T			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr9:79324112A>T	ENST00000376718.3	-	8	3201	c.3078T>A	c.(3076-3078)ggT>ggA	p.G1026G	PRUNE2_ENST00000428286.1_Silent_p.G667G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1026					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTCCCAGGACCTGAACTGA	0.448																																						dbGAP											0													132.0	105.0	113.0					9																	79324112		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3078T>A	9.37:g.79324112A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S348T	ENST00000376718.3	37	c.1042	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	A	8.193	0.796450	0.16327	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.94	-1.03	0.10102	.	.	.	.	.	T	0.18551	0.0445	.	.	.	0.21897	N	0.999484	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-7.1071	0.5802	0.00711	0.3858:0.2384:0.1616:0.2141	.	.	.	.	T	348	.	.	S	-	1	0	PRUNE2	78513932	0.101000	0.21875	0.993000	0.49108	0.696000	0.40369	-0.252000	0.08806	-0.111000	0.12001	-0.396000	0.06452	TCC	PRUNE2	-	NULL	ENSG00000106772		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	60	0.00	0	A	NM_138818		79324112	79324112	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426088	ensembl	human	known	69_37n	missense	29	45.28	24	SNP	0.344	T
RAB27A	5873	genome.wustl.edu	37	15	55497761	55497761	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr15:55497761G>A	ENST00000396307.2	-	6	861	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	RAB27A_ENST00000569493.1_Missense_Mutation_p.H204Y|RAB27A_ENST00000564609.1_Missense_Mutation_p.H204Y|RAB27A_ENST00000336787.1_Missense_Mutation_p.H204Y	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	204					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GTAGAGGCATGACCATTTGAT	0.488																																						dbGAP											0													383.0	322.0	343.0					15																	55497761		2193	4292	6485	-	-	-	SO:0001583	missense	0			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.610C>T	15.37:g.55497761G>A	ENSP00000379601:p.His204Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H204Y	ENST00000396307.2	37	c.610	CCDS10153.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217547	0.79352	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.68331	-0.32;-0.32	4.96	4.96	0.65561	.	0.156150	0.56097	D	0.000031	T	0.49592	0.1566	N	0.08118	0	0.50171	D	0.999858	B	0.19200	0.034	B	0.13407	0.009	T	0.50110	-0.8866	10	0.62326	D	0.03	-0.408	17.3827	0.87408	0.0:0.0:1.0:0.0	.	204	P51159	RB27A_HUMAN	Y	204;196;204	ENSP00000379601:H204Y;ENSP00000337761:H204Y	ENSP00000337761:H204Y	H	-	1	0	RAB27A	53285053	1.000000	0.71417	0.599000	0.28851	0.828000	0.46876	5.310000	0.65780	2.585000	0.87301	0.655000	0.94253	CAT	RAB27A	-	smart_Ran_GTPase	ENSG00000069974		0.488	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	HGNC	protein_coding	OTTHUMT00000254918.1	109	0.00	0	G	NM_004580, NM_183236		55497761	55497761	-1	no_errors	ENST00000336787	ensembl	human	known	69_37n	missense	58	48.67	55	SNP	0.857	A
RANBP2	5903	genome.wustl.edu	37	2	109367878	109367878	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr2:109367878T>G	ENST00000283195.6	+	10	1558	c.1432T>G	c.(1432-1434)Tca>Gca	p.S478A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	478					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCACCTGAATCAATATGTAT	0.299																																						dbGAP											0													39.0	45.0	43.0					2																	109367878		1504	2699	4203	-	-	-	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1432T>G	2.37:g.109367878T>G	ENSP00000283195:p.Ser478Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S478A	ENST00000283195.6	37	c.1432	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741280	0.49151	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.83837	-1.77	5.25	2.72	0.32119	.	.	.	.	.	T	0.79516	0.4459	M	0.66939	2.045	0.29828	N	0.830262	B	0.23540	0.087	B	0.15052	0.012	T	0.73575	-0.3939	9	0.87932	D	0	-9.5762	8.5843	0.33649	0.1287:0.0:0.1349:0.7364	.	478	P49792	RBP2_HUMAN	A	478	ENSP00000283195:S478A	ENSP00000283195:S478A	S	+	1	0	RANBP2	108734310	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.595000	0.67563	0.338000	0.23692	0.528000	0.53228	TCA	RANBP2	-	NULL	ENSG00000153201		0.299	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	159	0.00	0	T	NM_006267		109367878	109367878	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	missense	149	39.18	96	SNP	1.000	G
TBC1D25	4943	genome.wustl.edu	37	X	48418750	48418750	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chrX:48418750T>C	ENST00000376771.4	+	6	1795	c.1454T>C	c.(1453-1455)gTt>gCt	p.V485A	TBC1D25_ENST00000537536.1_Missense_Mutation_p.V231A|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	485					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAAGATGCTGTTGACCACCTG	0.632																																						dbGAP											0													38.0	39.0	39.0					X																	48418750		2203	4298	6501	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1454T>C	X.37:g.48418750T>C	ENSP00000365962:p.Val485Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V485A	ENST00000376771.4	37	c.1454	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	T	3.931	-0.016163	0.07681	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.15372	2.43;2.44	4.91	3.68	0.42216	Rab-GAP/TBC domain (1);	0.592582	0.16228	N	0.223751	T	0.13628	0.0330	L	0.46157	1.445	0.25038	N	0.991223	B;B;B	0.22800	0.075;0.043;0.075	B;B;B	0.19946	0.027;0.016;0.027	T	0.21075	-1.0256	10	0.15066	T	0.55	-14.9432	8.3977	0.32568	0.1762:0.0:0.0:0.8238	.	489;427;485	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	A	485;231	ENSP00000365962:V485A;ENSP00000444091:V231A	ENSP00000365962:V485A	V	+	2	0	TBC1D25	48303694	0.994000	0.37717	0.996000	0.52242	0.739000	0.42172	1.144000	0.31565	1.821000	0.53095	0.356000	0.21956	GTT	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000068354		0.632	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	36	0.00	0	T	NM_002536		48418750	48418750	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	12	57.14	16	SNP	0.352	C
THRAP3	9967	genome.wustl.edu	37	1	36752151	36752151	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr1:36752151A>C	ENST00000354618.5	+	4	544	c.320A>C	c.(319-321)tAc>tCc	p.Y107S	THRAP3_ENST00000469141.2_Missense_Mutation_p.Y107S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	107	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TATGGAAACTACCGCTCAAAT	0.527			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													114.0	116.0	115.0					1																	36752151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.320A>C	1.37:g.36752151A>C	ENSP00000346634:p.Tyr107Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.Y107S	ENST00000354618.5	37	c.320	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110373	0.37242	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000007	T	0.42698	0.1214	M	0.63843	1.955	0.44323	D	0.9972	D	0.69078	0.997	D	0.63793	0.918	T	0.31024	-0.9958	10	0.87932	D	0	-11.1544	15.544	0.76081	1.0:0.0:0.0:0.0	.	107	Q9Y2W1	TR150_HUMAN	S	107	ENSP00000346634:Y107S;ENSP00000433825:Y107S	ENSP00000346634:Y107S	Y	+	2	0	THRAP3	36524738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.490000	0.73645	2.324000	0.78689	0.533000	0.62120	TAC	THRAP3	-	NULL	ENSG00000054118		0.527	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	45	0.00	0	A	NM_005119		36752151	36752151	+1	no_errors	ENST00000354618	ensembl	human	known	69_37n	missense	22	45.00	18	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577514	7577515	+	Frame_Shift_Ins	INS	-	-	T	rs587781433		TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr17:7577514_7577515insT	ENST00000269305.4	-	7	955_956	c.766_767insA	c.(766-768)acafs	p.T256fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T256fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T256fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T256fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T256fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.T256fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T256fs*89(4)|p.T256A(3)|p.T256fs*8(2)|p.T256I(2)|p.T256K(2)|p.T256S(2)|p.?(1)|p.T256P(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTTCCAGTGTGATGATGGTG	0.594		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	32	Substitution - Missense(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Deletion - In frame(3)|Unknown(1)	central_nervous_system(6)|ovary(5)|bone(5)|breast(5)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|urinary_tract(1)|oesophagus(1)|kidney(1)|skin(1)|lung(1)	GRCh37	CM951232	TP53	M																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.767dupA	17.37:g.7577515_7577515dupT	ENSP00000269305:p.Thr256fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.T256fs	ENST00000269305.4	37	c.767_766	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	36	0.00	0	-	NM_000546		7577514	7577515	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	7	65.00	13	INS	0.998:1.000	T
TRNAU1AP	54952	genome.wustl.edu	37	1	28904191	28904192	+	3'UTR	DEL	GA	GA	-	rs562419352|rs376374764	byFrequency	TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr1:28904191_28904192delGA	ENST00000373830.3	+	0	933_934				SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000488745.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TGAGGGAGATGAGAGACTCCTT	0.421														9	0.00179712	0.0068	0.0	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0					dbGAP											0										10,4256		0,10,2123						-3.6	0.0			77	0,8254		0,0,4127	no	utr-3	TRNAU1AP	NM_017846.4		0,10,6250	A1A1,A1R,RR		0.0,0.2344,0.0799				10,12510				-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.*44GA>-	1.37:g.28904195_28904196delGA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SU7	RNA	DEL	-	NULL	ENST00000373830.3	37	NULL	CCDS324.1	1																																																																																			TRNAU1AP	-	-	ENSG00000180098		0.421	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	27	0.00	0	GA	NM_017846		28904191	28904192	+1	no_errors	ENST00000480930	ensembl	human	known	69_37n	rna	13	31.58	6	DEL	0.000:0.007	-
TXLNA	200081	genome.wustl.edu	37	1	32657943	32657943	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr1:32657943T>A	ENST00000373609.1	+	6	1276	c.995T>A	c.(994-996)cTa>cAa	p.L332Q	TXLNA_ENST00000373610.3_Missense_Mutation_p.L332Q			P40222	TXLNA_HUMAN	taxilin alpha	332					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACAAGGACCTACAACAGCAG	0.567																																						dbGAP											0													84.0	82.0	83.0					1																	32657943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.995T>A	1.37:g.32657943T>A	ENSP00000362711:p.Leu332Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin	p.L332Q	ENST00000373609.1	37	c.995	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654575	0.88056	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.49432	0.78;0.78	5.56	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81426	-0.0938	10	0.87932	D	0	-13.223	12.4839	0.55861	0.125:0.0:0.0:0.875	.	332	P40222	TXLNA_HUMAN	Q	332	ENSP00000362712:L332Q;ENSP00000362711:L332Q	ENSP00000362711:L332Q	L	+	2	0	TXLNA	32430530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.281000	0.72632	2.247000	0.74100	0.482000	0.46254	CTA	TXLNA	-	pfam_Taxilin	ENSG00000084652		0.567	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	26	0.00	0	T	NM_175852		32657943	32657943	+1	no_errors	ENST00000373609	ensembl	human	known	69_37n	missense	22	45.00	18	SNP	1.000	A
ZNF540	163255	genome.wustl.edu	37	19	38103247	38103247	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr19:38103247G>A	ENST00000592533.1	+	5	1398	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	ZNF540_ENST00000343599.5_Missense_Mutation_p.E356K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E324K|ZNF540_ENST00000316433.4_Missense_Mutation_p.E356K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	356					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCCTACGAATGTAAGGA	0.393																																						dbGAP											0													71.0	68.0	69.0					19																	38103247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1066G>A	19.37:g.38103247G>A	ENSP00000466274:p.Glu356Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E356K	ENST00000592533.1	37	c.1066	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510682	0.44660	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.19250	2.16	2.39	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.01424	-0.875	0.09310	N	1	B;B	0.30179	0.229;0.271	B;B	0.24155	0.03;0.051	T	0.33854	-0.9852	9	0.12766	T	0.61	.	2.3209	0.04211	0.2948:0.0:0.4617:0.2435	.	324;356	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	K	356;324	ENSP00000324598:E356K	ENSP00000324598:E356K	E	+	1	0	ZNF540	42795087	0.000000	0.05858	0.359000	0.25824	0.576000	0.36127	-3.206000	0.00558	0.316000	0.23135	0.305000	0.20034	GAA	ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.393	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	57	0.00	0	G	NM_152606		38103247	38103247	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	13	45.83	11	SNP	0.012	A
ZNF649	65251	genome.wustl.edu	37	19	52394487	52394487	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1N8-01A-11D-A142-09	TCGA-E9-A1N8-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cac57844-0e46-489b-8d94-ceea5788c050	91eb46af-a239-4482-ac32-b4a930aa91c3	g.chr19:52394487C>G	ENST00000354957.3	-	5	1186	c.902G>C	c.(901-903)aGa>aCa	p.R301T	ZNF649_ENST00000600738.1_Missense_Mutation_p.R273T|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TAGTGATTTTCTGGAGAAAGC	0.463																																						dbGAP											0													104.0	94.0	98.0					19																	52394487		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.902G>C	19.37:g.52394487C>G	ENSP00000347043:p.Arg301Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R301T	ENST00000354957.3	37	c.902	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	C	2.994	-0.207499	0.06180	.	.	ENSG00000198093	ENST00000354957	T	0.07216	3.21	2.38	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.10760	0.04	0.09310	N	1	P	0.39404	0.672	B	0.29598	0.104	T	0.38972	-0.9636	9	0.24483	T	0.36	.	1.2847	0.02048	0.1663:0.4293:0.1644:0.24	.	301	Q9BS31	ZN649_HUMAN	T	301	ENSP00000347043:R301T	ENSP00000347043:R301T	R	-	2	0	ZNF649	57086299	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.432000	0.02430	-0.220000	0.09988	-0.490000	0.04691	AGA	ZNF649	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198093		0.463	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	85	0.00	0	C	NM_023074		52394487	52394487	-1	no_errors	ENST00000354957	ensembl	human	known	69_37n	missense	72	11.11	9	SNP	0.000	G
