#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_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_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								4992	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			4992		Silent	SNP	HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C	p.Q174		37	c.522		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND2			G			4992	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361453	ensembl	human	known	54_36p	silent	SNP	NULL	A
IFITM1	8519	genome.wustl.edu	37	11	314259	314259	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr11:314259A>T	ENST00000408968.3	+	1	407	c.89A>T	c.(88-90)gAg>gTg	p.E30V	IFITM1_ENST00000528780.1_Missense_Mutation_p.E30V|IFITM1_ENST00000328221.5_Missense_Mutation_p.E30V	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	30					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCACAGCGAGACCTCCGTG	0.577																																																0			11											116.0	123.0	120.0					11																	314259		2045	4180	6225	304259	SO:0001583	missense	8519			J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.89A>T	11.37:g.314259A>T	ENSP00000386187:p.Glu30Val		304259	Q15322|Q53XZ0	Missense_Mutation	SNP	HMMPfam_CD225	p.E30V	ENST00000408968.3	37	c.89	CCDS41584.1	11	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902971	0.52227	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.86432	-2.12;-2.12;-2.12	3.14	2.02	0.26589	.	0.272815	0.26844	U	0.022214	D	0.91673	0.7368	M	0.86502	2.82	0.09310	N	1	P	0.49559	0.925	D	0.67103	0.949	T	0.81955	-0.0696	10	0.56958	D	0.05	.	4.4349	0.11545	0.8435:0.0:0.1565:0.0	.	30	P13164	IFM1_HUMAN	V	30;30;30;35	ENSP00000437057:E30V;ENSP00000330825:E30V;ENSP00000386187:E30V	ENSP00000330825:E30V	E	+	2	0	IFITM1	304259	0.450000	0.25697	0.008000	0.14137	0.071000	0.16799	1.566000	0.36396	1.446000	0.47643	0.172000	0.16884	GAG	-	HMMPfam_CD225		0.577	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM1	protein_coding	OTTHUMT00000383595.1	A	NM_003641		304259	+1	no_errors	NM_003641	genbank	human	validated	54_36p	missense	SNP	0.003	T
ADD1	118	genome.wustl.edu	37	4	2930036	2930036	+	Missense_Mutation	SNP	C	C	A	rs371284874		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr4:2930036C>A	ENST00000398129.1	+	14	2020	c.2000C>A	c.(1999-2001)cCc>cAc	p.P667H	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.P698H|ADD1_ENST00000446856.1_Missense_Mutation_p.P667H|ADD1_ENST00000513328.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	667					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCCATAGACCCCCAAGCCCC	0.637																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0			4											62.0	77.0	72.0					4																	2930036		2203	4300	6503	2899834	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2000C>A	4.37:g.2930036C>A	ENSP00000381197:p.Pro667His		2899834	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	superfamily_Aldolase_II_N,HMMPfam_Aldolase_II	p.P698H	ENST00000398129.1	37	c.2093	CCDS43205.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.062|5.062	0.197034|0.197034	0.09599|0.09599	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129|ENST00000514940	T;T;T|T	0.04917|0.11277	3.53;3.54;3.54|2.79	5.0|5.0	3.13|3.13	0.36017|0.36017	.|.	0.933189|0.933189	0.09010|0.09010	N|N	0.861705|0.861705	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.24963|.	0.07;0.115|.	B;B|.	0.34138|.	0.085;0.176|.	T|T	0.41142|0.41142	-0.9525|-0.9525	10|8	0.44086|0.14252	T|T	0.13|0.57	-2.1111|-2.1111	9.1229|9.1229	0.36797|0.36797	0.0:0.7484:0.0:0.2516|0.0:0.7484:0.0:0.2516	.|.	667;698|.	P35611;P35611-3|.	ADDA_HUMAN;.|.	H|T	698;667;667|404	ENSP00000264758:P698H;ENSP00000399828:P667H;ENSP00000381197:P667H|ENSP00000424143:P404T	ENSP00000264758:P698H|ENSP00000424143:P404T	P|P	+|+	2|1	0|0	ADD1|ADD1	2899834|2899834	0.019000|0.019000	0.18553|0.18553	0.016000|0.016000	0.15963|0.15963	0.035000|0.035000	0.12851|0.12851	1.950000|1.950000	0.40323|0.40323	1.132000|1.132000	0.42129|0.42129	-0.345000|-0.345000	0.07892|0.07892	CCC|CCC	-	NULL		0.637	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2899834	+1	no_errors	NM_014189	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
TP53	7157	genome.wustl.edu	37	17	7577509	7577509	+	Missense_Mutation	SNP	C	C	T	rs121912652		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:7577509C>T	ENST00000269305.4	-	7	961	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	TP53_ENST00000413465.2_Missense_Mutation_p.E258K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E258K|TP53_ENST00000455263.2_Missense_Mutation_p.E258K|TP53_ENST00000445888.2_Missense_Mutation_p.E258K|TP53_ENST00000420246.2_Missense_Mutation_p.E258K	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	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(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)	CTGGAGTCTTCCAGTGTGATG	0.587		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	82	Substitution - Missense(50)|Substitution - Nonsense(15)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(14)|urinary_tract(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(7)|skin(7)|lung(6)|oesophagus(5)|central_nervous_system(4)|breast(4)|ovary(4)|bone(4)|stomach(2)|liver(2)|thyroid(1)|soft_tissue(1)|peritoneum(1)|biliary_tract(1)|endometrium(1)|pancreas(1)	17	GRCh37	CM900213	TP53	M	rs121912652						137.0	97.0	111.0					17																	7577509		2203	4300	6503	7518234	SO:0001583	missense	7157	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.772G>A	17.37:g.7577509C>T	ENSP00000269305:p.Glu258Lys		7518234	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	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.E258K	ENST00000269305.4	37	c.772	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896324	0.72639	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.62	3.62	0.41486	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.92367	3.3	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;1.0	D	0.96542	0.9401	9	0.87932	D	0	-21.9865	12.6215	0.56605	0.0:0.8318:0.1682:0.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	K	258;258;258;258;258;258;247;126	ENSP00000410739:E258K;ENSP00000352610:E258K;ENSP00000269305:E258K;ENSP00000398846:E258K;ENSP00000391127:E258K;ENSP00000391478:E258K;ENSP00000425104:E126K	ENSP00000269305:E258K	E	-	1	0	TP53	7518234	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.609000	0.82925	1.266000	0.44231	0.462000	0.41574	GAA	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518234	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EMR3	84658	genome.wustl.edu	37	19	14752244	14752244	+	Missense_Mutation	SNP	C	C	T	rs377703147		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr19:14752244C>T	ENST00000253673.5	-	10	1335	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	EMR3_ENST00000599900.1_Missense_Mutation_p.R197Q|EMR3_ENST00000443157.2_Missense_Mutation_p.R286Q|EMR3_ENST00000344373.4_Missense_Mutation_p.R360Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	412					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTTCAGTTCGATCAATCCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20472	0.0		0.001	False		,,,				2504	0.0															0			19						C	GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	128.0	97.0	107.0		1235	-7.8	0.0	19		107	0,8600		0,0,4300	no	missense	EMR3	NM_032571.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	412/653	14752244	1,13005	2203	4300	6503	14613244	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1235G>A	19.37:g.14752244C>T	ENSP00000253673:p.Arg412Gln		14613244		Missense_Mutation	SNP	HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.R412Q	ENST00000253673.5	37	c.1235	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	T	5.400	0.259032	0.10239	2.27E-4	0.0	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.37752	1.18;1.18;1.18	3.97	-7.84	0.01196	GPCR, family 2-like (1);	.	.	.	.	T	0.11623	0.0283	N	0.03881	-0.34	0.09310	N	1	P;B;B	0.35551	0.509;0.141;0.221	B;B;B	0.34301	0.179;0.112;0.066	T	0.27088	-1.0084	9	0.15066	T	0.55	.	7.8532	0.29468	0.1132:0.2589:0.0:0.6279	.	286;360;412	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	286;412;360	ENSP00000396208:R286Q;ENSP00000253673:R412Q;ENSP00000340758:R360Q	ENSP00000253673:R412Q	R	-	2	0	EMR3	14613244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.647000	0.05397	-1.539000	0.01732	-2.215000	0.00298	CGA	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2		0.532	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	protein_coding	OTTHUMT00000466488.1	C	NM_032571		14613244	-1	no_errors	NM_032571	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
FBXL5	26234	genome.wustl.edu	37	4	15627591	15627591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr4:15627591C>T	ENST00000341285.3	-	9	1258	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	FBXL5_ENST00000382358.4_Nonsense_Mutation_p.W252*|FBXL5_ENST00000412094.2_Nonsense_Mutation_p.W361*	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	378					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCAACCAAGCCAAGACCAAC	0.368																																																0			4											22.0	23.0	22.0					4																	15627591		2192	4268	6460	15236689	SO:0001587	stop_gained	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1134G>A	4.37:g.15627591C>T	ENSP00000344866:p.Trp378*		15236689	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Nonsense_Mutation	SNP	superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RNI-like,HMMSmart_SM00367,HMMPfam_LRR_1	p.W378*	ENST00000341285.3	37	c.1134	CCDS3415.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.605565|8.605565	0.98881|0.98881	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.178466	.|0.51477	.|D	.|0.000093	T|.	0.62877|.	0.2464|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68221|.	-0.5466|.	3|.	.|0.36615	.|T	.|0.2	-7.3254|-7.3254	12.3547|12.3547	0.55167|0.55167	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	.|.	.|.	.|.	T|X	299|378;361;252	.|.	.|ENSP00000344866:W378X	A|W	-|-	1|3	0|0	FBXL5|FBXL5	15236689|15236689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.972000|1.972000	0.40540|0.40540	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GCT|TGG	-	superfamily_RNI-like,HMMSmart_SM00367		0.368	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	protein_coding	OTTHUMT00000214235.2	C			15236689	-1	no_errors	NM_012161	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
CLTCL1	8218	genome.wustl.edu	37	22	19241626	19241626	+	Silent	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr22:19241626G>A	ENST00000263200.10	-	3	447	c.375C>T	c.(373-375)acC>acT	p.T125T	CLTCL1_ENST00000353891.5_Silent_p.T125T|CLTCL1_ENST00000427926.1_Silent_p.T125T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	125	Globular terminal domain.|WD40-like repeat 3.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGTAGACCGCGGTCTCGGTCA	0.483			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0			22											62.0	62.0	62.0					22																	19241626		1972	4159	6131	17621626	SO:0001819	synonymous_variant	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.375C>T	22.37:g.19241626G>A			17621626	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel,HMMPfam_Clathrin-link,superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299	p.T125	ENST00000263200.10	37	c.375	CCDS46662.1	22																																																																																			-	superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel		0.483	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	protein_coding	OTTHUMT00000316397.5	G	NM_007098		17621626	-1	no_errors	ENST00000263200	ensembl	human	known	54_36p	silent	SNP	0.927	A
MAPK7	5598	genome.wustl.edu	37	17	19284499	19284499	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:19284499G>A	ENST00000308406.5	+	4	1363	c.977G>A	c.(976-978)cGc>cAc	p.R326H	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R187H|MAPK7_ENST00000395604.3_Missense_Mutation_p.R326H|MAPK7_ENST00000395602.4_Missense_Mutation_p.R326H	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	326	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTGCTGGGTCGCATGCTGCGT	0.622																																																0			17											53.0	54.0	54.0					17																	19284499		2203	4300	6503	19225092	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.977G>A	17.37:g.19284499G>A	ENSP00000311005:p.Arg326His		19225092	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST	p.R326H	ENST00000308406.5	37	c.977	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324800	0.41197	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.04	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.495923	0.22448	N	0.059927	T	0.54759	0.1878	L	0.54908	1.71	0.29109	N	0.881004	P	0.44659	0.84	B	0.35312	0.2	T	0.62469	-0.6848	10	0.72032	D	0.01	-4.9273	8.0033	0.30310	0.0967:0.1776:0.7257:0.0	.	326	Q13164	MK07_HUMAN	H	326;187;326;326	ENSP00000311005:R326H;ENSP00000299612:R187H;ENSP00000378968:R326H;ENSP00000378966:R326H	ENSP00000299612:R187H	R	+	2	0	MAPK7	19225092	0.954000	0.32549	0.984000	0.44739	0.984000	0.73092	2.292000	0.43549	2.335000	0.79485	0.561000	0.74099	CGC	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.622	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	protein_coding	OTTHUMT00000132506.1	G	NM_139033		19225092	+1	no_errors	NM_002749	genbank	human	reviewed	54_36p	missense	SNP	0.416	A
ZNF626	199777	genome.wustl.edu	37	19	20807903	20807903	+	Silent	SNP	A	A	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr19:20807903A>G	ENST00000601440.1	-	4	926	c.780T>C	c.(778-780)gaT>gaC	p.D260D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGCCACATTTATCACACTTGT	0.393																																																0			19											58.0	61.0	60.0					19																	20807903		2198	4300	6498	20599743	SO:0001819	synonymous_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.780T>C	19.37:g.20807903A>G			20599743	Q8N8T4|Q96QM1	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.D260	ENST00000601440.1	37	c.780	CCDS42535.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.393	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	protein_coding	OTTHUMT00000447845.2	A	NM_145297		20599743	-1	no_errors	NM_001076675	genbank	human	validated	54_36p	silent	SNP	0.008	G
GYS2	2998	genome.wustl.edu	37	12	21711193	21711193	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr12:21711193G>C	ENST00000261195.2	-	11	1617	c.1363C>G	c.(1363-1365)Ccc>Gcc	p.P455A		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	455					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGAGGATGGGGTCGGTGGAG	0.438																																					Colon(149;9 1820 3690 10544 50424)											0			12											183.0	151.0	161.0					12																	21711193		2203	4300	6503	21602460	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1363C>G	12.37:g.21711193G>C	ENSP00000261195:p.Pro455Ala		21602460	A0AVD8	Missense_Mutation	SNP	HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase	p.P455A	ENST00000261195.2	37	c.1363	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494792	0.85069	.	.	ENSG00000111713	ENST00000261195	T	0.74526	-0.85	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.89163	3.01	0.80722	D	1	B	0.24368	0.102	B	0.41619	0.361	D	0.84711	0.0734	10	0.72032	D	0.01	-18.79	13.411	0.60942	0.0:0.1575:0.8425:0.0	.	455	P54840	GYS2_HUMAN	A	455	ENSP00000261195:P455A	ENSP00000261195:P455A	P	-	1	0	GYS2	21602460	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.612000	0.82975	2.480000	0.83734	0.655000	0.94253	CCC	-	HMMPfam_Glycogen_syn		0.438	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	protein_coding	OTTHUMT00000402396.1	G	NM_021957		21602460	-1	no_errors	NM_021957	genbank	human	validated	54_36p	missense	SNP	1.000	C
KIAA1462	57608	genome.wustl.edu	37	10	30336586	30336586	+	Silent	SNP	C	C	T	rs376588282		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr10:30336586C>T	ENST00000375377.1	-	2	257	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	52					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGCGAGGGCCGCAGGGCCAT	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17071	0.0		0.0	False		,,,				2504	0.0															0			10						C		1,4063		0,1,2031	48.0	54.0	52.0		156	-10.1	0.0	10		52	0,8344		0,0,4172	no	coding-synonymous	KIAA1462	NM_020848.2		0,1,6203	TT,TC,CC		0.0,0.0246,0.0081		52/1360	30336586	1,12407	2032	4172	6204	30376592	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.156G>A	10.37:g.30336586C>T			30376592	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.A52	ENST00000375377.1	37	c.156	CCDS41500.1	10																																																																																			-	NULL		0.672	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30376592	-1	no_errors	NM_020848	genbank	human	validated	54_36p	silent	SNP	0.000	T
KRTAP15-1	254950	genome.wustl.edu	37	21	31812745	31812745	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr21:31812745G>A	ENST00000334067.3	+	1	149	c.100G>A	c.(100-102)Gcc>Acc	p.A34T		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	34						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CCCCAGCAATGCCATCTATTC	0.483																																																0			21											88.0	88.0	88.0					21																	31812745		2203	4300	6503	30734616	SO:0001583	missense	254950			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.100G>A	21.37:g.31812745G>A	ENSP00000334866:p.Ala34Thr		30734616	Q2M3F4	Missense_Mutation	SNP	HMMPfam_PMG	p.A34T	ENST00000334067.3	37	c.100	CCDS13593.1	21	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408893	0.25378	.	.	ENSG00000186970	ENST00000334067	T	0.03124	4.04	4.57	0.775	0.18527	.	1.565470	0.04454	N	0.373238	T	0.03178	0.0093	N	0.17474	0.49	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.45352	-0.9267	10	0.38643	T	0.18	2.7982	6.8823	0.24181	0.3803:0.0:0.6197:0.0	.	34	Q3LI76	KR151_HUMAN	T	34	ENSP00000334866:A34T	ENSP00000334866:A34T	A	+	1	0	KRTAP15-1	30734616	0.145000	0.22656	0.016000	0.15963	0.021000	0.10359	0.536000	0.23129	0.135000	0.18707	0.655000	0.94253	GCC	-	HMMPfam_PMG		0.483	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP15-1	protein_coding	OTTHUMT00000128236.1	G			30734616	+1	no_errors	NM_181623	genbank	human	provisional	54_36p	missense	SNP	0.527	A
KAT8	84148	genome.wustl.edu	37	16	31131661	31131661	+	Splice_Site	SNP	T	T	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr16:31131661T>A	ENST00000543774.2	+	4	623	c.288T>A	c.(286-288)ttT>ttA	p.F96L	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Splice_Site_p.F96L|KAT8_ENST00000219797.4_Splice_Site_p.F96L			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	96	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										TACTTACAGTTAACCGGCGGC	0.567																																																0			16											84.0	80.0	82.0					16																	31131661		2197	4300	6497	31039162	SO:0001630	splice_region_variant	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.287-1T>A	16.37:g.31131661T>A			31039162	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	HMMSmart_SM00298,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS	p.F96L	ENST00000543774.2	37	c.288	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078529	0.55753	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.44083	0.93;0.93	5.83	4.71	0.59529	.	0.048744	0.85682	D	0.000000	T	0.24967	0.0606	N	0.13299	0.325	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04752	-1.0929	10	0.21014	T	0.42	.	11.1625	0.48524	0.0:0.0737:0.0:0.9263	.	96;96	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	L	96	ENSP00000219797:F96L;ENSP00000406037:F96L	ENSP00000219797:F96L	F	+	3	2	KAT8	31039162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.133000	0.31430	1.007000	0.39238	0.533000	0.62120	TTT	-	HMMSmart_SM00298		0.567	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYST1	protein_coding	OTTHUMT00000255546.3	T	NM_032188	Missense_Mutation	31039162	+1	no_errors	NM_182958	genbank	human	provisional	54_36p	missense	SNP	1.000	A
TAF1L	138474	genome.wustl.edu	37	9	32634324	32634324	+	Silent	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr9:32634324G>A	ENST00000242310.4	-	1	1343	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	418					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAGTTTTCGTCAGCCAGAA	0.443																																																0			9											262.0	245.0	251.0					9																	32634324		2203	4300	6503	32624324	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1254C>T	9.37:g.32634324G>A			32624324	Q0VG57	Silent	SNP	HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.D418	ENST00000242310.4	37	c.1254	CCDS35003.1	9																																																																																			-	NULL		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G			32624324	-1	no_errors	NM_153809	genbank	human	provisional	54_36p	silent	SNP	1.000	A
CSMD2	114784	genome.wustl.edu	37	1	34076711	34076711	+	Silent	SNP	G	G	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:34076711G>T	ENST00000373380.1	-	20	3112	c.2892C>A	c.(2890-2892)tcC>tcA	p.S964S	CSMD2_ENST00000373381.4_Silent_p.S2091S|CSMD2_ENST00000373377.1_Silent_p.S190S|CSMD2_ENST00000373388.2_Silent_p.S190S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2051	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTCTCGTGGGACGTGGAGA	0.552																																																0			1											140.0	118.0	125.0					1																	34076711		2203	4300	6503	33849298	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2892C>A	1.37:g.34076711G>T			33849298	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC	p.S2051	ENST00000373380.1	37	c.6153		1																																																																																			-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.552	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	G	NM_052896		33849298	-1	no_errors	NM_052896	genbank	human	validated	54_36p	silent	SNP	0.999	T
GOLGA4	2803	genome.wustl.edu	37	3	37367319	37367319	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr3:37367319A>C	ENST00000361924.2	+	14	4316	c.3942A>C	c.(3940-3942)gaA>gaC	p.E1314D	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1336D|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1314	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGATATTGAAAGTCTTGTAA	0.363																																																0			3											37.0	37.0	37.0					3																	37367319		2203	4299	6502	37342323	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3942A>C	3.37:g.37367319A>C	ENSP00000354486:p.Glu1314Asp		37342323	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	superfamily_Prefoldin,PatternScan_PHOSPHOPANTETHEINE,HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain	p.E1314D	ENST00000361924.2	37	c.3942	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064445	0.36470	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.29142	1.59;1.58;1.59	5.53	1.61	0.23674	.	0.204663	0.24552	N	0.037548	T	0.31040	0.0784	M	0.73598	2.24	0.30734	N	0.746896	B;B;B;P	0.46912	0.117;0.031;0.031;0.886	B;B;B;B	0.40165	0.063;0.027;0.027;0.321	T	0.34229	-0.9837	10	0.35671	T	0.21	.	10.6918	0.45875	0.6438:0.0:0.0:0.3562	.	1314;1314;1336;1314	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	D	1314;1336;1185	ENSP00000354486:E1314D;ENSP00000349305:E1336D;ENSP00000405842:E1185D	ENSP00000349305:E1336D	E	+	3	2	GOLGA4	37342323	0.995000	0.38212	0.572000	0.28498	0.440000	0.31957	0.770000	0.26618	0.032000	0.15435	-0.624000	0.04008	GAA	-	NULL		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	protein_coding	OTTHUMT00000253339.2	A	NM_002078		37342323	+1	no_errors	NM_002078	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
KIF21A	55605	genome.wustl.edu	37	12	39735346	39735346	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr12:39735346C>T	ENST00000361418.5	-	14	1897	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	KIF21A_ENST00000541463.2_Missense_Mutation_p.E615K|KIF21A_ENST00000395670.3_Missense_Mutation_p.E628K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E615K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E615K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	628					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGAACTTTCACCCCCATCA	0.383																																																0			12											118.0	115.0	116.0					12																	39735346		2203	4300	6503	38021613	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1882G>A	12.37:g.39735346C>T	ENSP00000354878:p.Glu628Lys		38021613	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.E615K	ENST00000361418.5	37	c.1843	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914517	0.92178	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000090	T	0.81973	0.4936	M	0.77313	2.365	0.53688	D	0.999979	D;D;P;D	0.64830	0.994;0.994;0.953;0.988	D;D;P;P	0.63488	0.915;0.915;0.551;0.717	D	0.83816	0.0244	10	0.72032	D	0.01	.	19.3856	0.94555	0.0:1.0:0.0:0.0	.	615;615;628;615	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	K	615;628;628;615;628;615	ENSP00000354851:E615K;ENSP00000379029:E628K;ENSP00000445606:E615K;ENSP00000354878:E628K;ENSP00000438075:E615K	ENSP00000344501:E628K	E	-	1	0	KIF21A	38021613	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.749000	0.74883	2.570000	0.86706	0.655000	0.94253	GAA	-	superfamily_WD40 repeat-like		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	C	NM_017641		38021613	-1	no_errors	NM_017641	genbank	human	validated	54_36p	missense	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42035078	42035078	+	Silent	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr15:42035078C>T	ENST00000570161.1	+	14	4920	c.4920C>T	c.(4918-4920)gtC>gtT	p.V1640V	MGA_ENST00000389936.4_Silent_p.V1640V|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Silent_p.V1640V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTTGAGGTCTCTGAAACTA	0.448																																																0			15											86.0	81.0	82.0					15																	42035078		1892	4124	6016	39822370	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4920C>T	15.37:g.42035078C>T			39822370	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_2,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353	p.V1689	ENST00000570161.1	37	c.5067	CCDS55959.1	15																																																																																			-	NULL		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1		39822370	+1	no_errors	NM_001080541	genbank	human	provisional	54_36p	silent	SNP	1.000	T
SLC38A2	54407	genome.wustl.edu	37	12	46760705	46760705	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr12:46760705C>T	ENST00000256689.5	-	7	949	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	SLC38A2_ENST00000551374.1_5'Flank|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	169					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCATATTTCACTATGAAGAGG	0.393																																					Ovarian(9;448 492 8335 28722 40361)											0			12											88.0	83.0	85.0					12																	46760705		2203	4300	6503	45046972	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.505G>A	12.37:g.46760705C>T	ENSP00000256689:p.Val169Met		45046972	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.V169M	ENST00000256689.5	37	c.505	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.514950	0.96402	.	.	ENSG00000134294	ENST00000256689	T	0.02606	4.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.984;0.999	T	0.00002	-1.2619	10	0.62326	D	0.03	-20.3547	20.8794	0.99867	0.0:1.0:0.0:0.0	.	69;169	Q96QD8-2;Q96QD8	.;S38A2_HUMAN	M	169	ENSP00000256689:V169M	ENSP00000256689:V169M	V	-	1	0	SLC38A2	45046972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.940000	0.63533	2.941000	0.99782	0.655000	0.94253	GTG	-	HMMPfam_Aa_trans		0.393	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	protein_coding	OTTHUMT00000404226.1	C			45046972	-1	no_errors	NM_018976	genbank	human	validated	54_36p	missense	SNP	1.000	T
UBA1	7317	genome.wustl.edu	37	X	47068986	47068986	+	Intron	SNP	C	C	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:47068986C>A	ENST00000335972.6	+	17	2121				UBA1_ENST00000377269.3_Missense_Mutation_p.L83M|UBA1_ENST00000377351.4_Intron	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1						cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTTTGTCAACTGTGGCCACA	0.498																																																0			X											94.0	75.0	82.0					X																	47068986		2203	4300	6503	46953930	SO:0001627	intron_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1939-36C>A	X.37:g.47068986C>A			46953930	Q5JRR8|Q96E13	Missense_Mutation	SNP	HMMPfam_UBA_e1_thiolCys,superfamily_MoeB,HMMPfam_UBACT,HMMPfam_UBA_e1_C	p.L83M	ENST00000335972.6	37	c.247	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361552	0.41801	.	.	ENSG00000130985	ENST00000377269	T	0.49139	0.79	3.82	2.0	0.26442	.	.	.	.	.	T	0.63426	0.2510	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50303	-0.8844	8	0.87932	D	0	.	7.5818	0.27970	0.0:0.7829:0.0:0.2171	.	83	Q5JRR6	.	M	83	ENSP00000366481:L83M	ENSP00000366481:L83M	L	+	1	2	UBA1	46953930	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	0.340000	0.19892	0.404000	0.25506	0.525000	0.51046	CTG	-	NULL		0.498	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	protein_coding	OTTHUMT00000056389.1	C	NM_003334		46953930	+1	no_errors	ENST00000377269	ensembl	human	known	54_36p	missense	SNP	0.002	A
CDK16	5127	genome.wustl.edu	37	X	47086093	47086093	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:47086093T>C	ENST00000357227.4	+	10	1452	c.1028T>C	c.(1027-1029)aTt>aCt	p.I343T	CDK16_ENST00000276052.6_Missense_Mutation_p.I417T|CDK16_ENST00000457458.2_Missense_Mutation_p.I349T|CDK16_ENST00000518022.1_Missense_Mutation_p.I343T	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TCCACTCAGATTGACATGTGG	0.552																																																0			X											81.0	66.0	71.0					X																	47086093		2203	4300	6503	46971037	SO:0001583	missense	5127				CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.1028T>C	X.37:g.47086093T>C	ENSP00000349762:p.Ile343Thr		46971037	A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.I343T	ENST00000357227.4	37	c.1028	CCDS14276.1	X	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658973	0.67586	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518022;ENST00000276052;ENST00000523344	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.91635	0.999;0.99;0.997	T	0.68010	-0.5522	10	0.87932	D	0	-6.9137	13.5688	0.61834	0.0:0.0:0.0:1.0	.	417;441;343	B7Z7C8;B7Z8T0;Q00536	.;.;CDK16_HUMAN	T	349;343;441;295;343;343;417;100	ENSP00000405798:I349T;ENSP00000349762:I343T;ENSP00000429985:I343T;ENSP00000429751:I343T;ENSP00000276052:I417T;ENSP00000428349:I100T	ENSP00000276052:I417T	I	+	2	0	CDK16	46971037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.948000	0.87774	1.847000	0.53656	0.430000	0.28490	ATT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.552	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCTK1	protein_coding	OTTHUMT00000056406.2	T	NM_006201		46971037	+1	no_errors	NM_006201	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PSG2	5670	genome.wustl.edu	37	19	43570734	43570734	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr19:43570734A>T	ENST00000406487.1	-	5	1081	c.983T>A	c.(982-984)cTt>cAt	p.L328H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	328					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAGAGGAAGAAGTCCTATTCT	0.413																																																0			19											169.0	163.0	165.0					19																	43570734		2201	4298	6499	48262574	SO:0001583	missense	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.983T>A	19.37:g.43570734A>T	ENSP00000385706:p.Leu328His		48262574	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2	p.L328H	ENST00000406487.1	37	c.983	CCDS12616.1	19	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.433694	0.00013	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942	T	0.33216	1.42	0.514	-1.03	0.10102	.	.	.	.	.	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	8	0.15499	T	0.54	.	.	.	.	.	328	P11465	PSG2_HUMAN	H	328	ENSP00000385706:L328H	ENSP00000332984:L328H	L	-	2	0	PSG2	48262574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.011000	0.00647	-3.102000	0.00244	-3.169000	0.00057	CTT	-	NULL		0.413	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	protein_coding	OTTHUMT00000323083.1	A	NM_031246		48262574	-1	no_errors	NM_031246	genbank	human	validated	54_36p	missense	SNP	0.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50682515	50682515	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr22:50682515A>G	ENST00000248846.5	-	1	478	c.374T>C	c.(373-375)gTt>gCt	p.V125A	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V125A|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	125					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCGGCAGAACTTGAGGGGG	0.547																																																0			22											81.0	77.0	78.0					22																	50682515		2202	4300	6502	49024642	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.374T>C	22.37:g.50682515A>G	ENSP00000248846:p.Val125Ala		49024642	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	HMMPfam_Spc97_Spc98	p.V125A	ENST00000248846.5	37	c.374	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	A	5.118	0.207453	0.09704	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.12879	3.04;2.64	3.97	0.47	0.16747	.	1.072620	0.07201	N	0.857486	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.017;0.003;0.001	B;B;B	0.12837	0.008;0.004;0.005	T	0.40534	-0.9558	10	0.06494	T	0.89	.	5.1176	0.14843	0.548:0.2858:0.1662:0.0	.	125;125;125	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	A	125	ENSP00000248846:V125A;ENSP00000397387:V125A	ENSP00000248846:V125A	V	-	2	0	TUBGCP6	49024642	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.551000	0.23361	-0.079000	0.12707	0.459000	0.35465	GTT	-	NULL		0.547	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	A	NM_020461		49024642	-1	no_errors	NM_020461	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
SRP68	6730	genome.wustl.edu	37	17	74057616	74057616	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:74057616G>T	ENST00000307877.2	-	5	762	c.601C>A	c.(601-603)Cat>Aat	p.H201N	SRP68_ENST00000355113.5_Missense_Mutation_p.H100N|SRP68_ENST00000539137.1_Missense_Mutation_p.H163N	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	201					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CATTCTTGATGTTCAAAACGT	0.423																																																0			17											118.0	104.0	109.0					17																	74057616		2203	4300	6503	71569211	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.601C>A	17.37:g.74057616G>T	ENSP00000312066:p.His201Asn		71569211	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	superfamily_TPR-like	p.H201N	ENST00000307877.2	37	c.601	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100281	0.56183	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.28255	1.62;1.62;1.62	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);	0.100687	0.64402	D	0.000001	T	0.22513	0.0543	N	0.22421	0.69	0.40654	D	0.982067	B;B	0.29805	0.257;0.257	B;B	0.26864	0.074;0.074	T	0.05632	-1.0873	10	0.17832	T	0.49	-20.2014	18.3055	0.90179	0.0:0.0:1.0:0.0	.	163;201	G3V1U4;Q9UHB9	.;SRP68_HUMAN	N	163;201;201;201;100	ENSP00000446136:H163N;ENSP00000312066:H201N;ENSP00000347233:H100N	ENSP00000307756:H201N	H	-	1	0	SRP68	71569211	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	6.992000	0.76238	2.832000	0.97577	0.655000	0.94253	CAT	-	superfamily_TPR-like		0.423	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	protein_coding	OTTHUMT00000449487.1	G	NM_014230		71569211	-1	no_errors	NM_014230	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GLUD1	2746	genome.wustl.edu	37	10	88811533	88811533	+	Missense_Mutation	SNP	T	T	C	rs373705613		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr10:88811533T>C	ENST00000277865.4	-	13	1748	c.1652A>G	c.(1651-1653)aAt>aGt	p.N551S	GLUD1_ENST00000544149.1_Missense_Mutation_p.N418S|GLUD1_ENST00000537649.1_Missense_Mutation_p.N384S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	551					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ACCAGCTTCATTGTACACTTT	0.423																																																0			10						T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	258.0	222.0	234.0		1652	4.9	1.0	10		234	0,8600		0,0,4300	no	missense	GLUD1	NM_005271.3	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	551/559	88811533	1,13005	2203	4300	6503	88801513	SO:0001583	missense	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1652A>G	10.37:g.88811533T>C	ENSP00000277865:p.Asn551Ser		88801513	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd	p.N551S	ENST00000277865.4	37	c.1652	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933545	0.34096	2.27E-4	0.0	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96265	-3.96;-3.96;-3.96	4.94	4.94	0.65067	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.046500	0.85682	N	0.000000	D	0.91815	0.7410	N	0.20986	0.625	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.88416	0.3025	10	0.21014	T	0.42	.	14.907	0.70727	0.0:0.0:0.0:1.0	.	418;551	B4DGN5;P00367	.;DHE3_HUMAN	S	551;508;384;250;483;418	ENSP00000277865:N551S;ENSP00000439291:N384S;ENSP00000444732:N418S	ENSP00000277865:N551S	N	-	2	0	GLUD1	88801513	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.273000	0.72581	2.005000	0.58758	0.454000	0.30748	AAT	-	superfamily_NAD(P)-bd		0.423	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	protein_coding	OTTHUMT00000049188.1	T	NM_005271		88801513	-1	no_errors	NM_005271	genbank	human	validated	54_36p	missense	SNP	1.000	C
MTERF1	7978	genome.wustl.edu	37	7	91503499	91503499	+	Silent	SNP	G	G	C			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr7:91503499G>C	ENST00000351870.3	-	3	702	c.609C>G	c.(607-609)acC>acG	p.T203T	MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Silent_p.T183T|MTERF_ENST00000406735.2_Silent_p.T183T	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		203					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TATTGGAGAAGGTACGAGGGG	0.408																																																0			7											68.0	68.0	68.0					7																	91503499		2203	4300	6503	91341435	SO:0001819	synonymous_variant	7978																														ENST00000351870.3:c.609C>G	7.37:g.91503499G>C			91341435	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	HMMPfam_mTERF,HMMSmart_SM00733	p.T203	ENST00000351870.3	37	c.609	CCDS5621.1	7																																																																																			-	HMMPfam_mTERF,HMMSmart_SM00733		0.408	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	protein_coding	OTTHUMT00000342896.1	G			91341435	-1	no_errors	NM_006980	genbank	human	validated	54_36p	silent	SNP	0.959	C
DNM1P47	100216544	genome.wustl.edu	37	15	102312207	102312207	+	RNA	SNP	A	A	G	rs75381810	byFrequency	TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr15:102312207A>G	ENST00000561463.1	+	0	13575				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		CTCCTGGACCAGGCTCATCAG	0.622																																																0			15																																								100129730			441736			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312207A>G			100129730		RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			-	-		0.622	DNM1P47-001	KNOWN	basic	processed_transcript	LOC441736	pseudogene	OTTHUMT00000417589.1	A	NG_009149		100129730	-1	pseudogene	XR_042320	genbank	human	model	54_36p	rna	SNP	0.000	G
NRK	203447	genome.wustl.edu	37	X	105156665	105156665	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:105156665A>G	ENST00000243300.9	+	14	2570	c.2267A>G	c.(2266-2268)aAt>aGt	p.N756S	NRK_ENST00000428173.2_Missense_Mutation_p.N757S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	756					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCATCAGACAATGATGAAGTA	0.303										HNSCC(51;0.14)																																						0			X											38.0	32.0	34.0					X																	105156665		1828	4064	5892	105043321	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2267A>G	X.37:g.105156665A>G	ENSP00000434830:p.Asn756Ser		105043321	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,HMMSmart_SM00036,HMMPfam_CNH	p.N757S	ENST00000243300.9	37	c.2270		X	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220000	0.58560	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77489	-1.09;-1.1	3.69	3.69	0.42338	.	0.000000	0.44285	D	0.000463	T	0.78767	0.4335	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.79108	0.992;0.968	T	0.79475	-0.1788	10	0.87932	D	0	.	7.9166	0.29822	1.0:0.0:0.0:0.0	.	424;756	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	756;757	ENSP00000434830:N756S;ENSP00000438378:N757S	ENSP00000434830:N756S	N	+	2	0	NRK	105043321	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.568000	0.53820	1.683000	0.51011	0.486000	0.48141	AAT	-	superfamily_p53-like transcription factors		0.303	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	protein_coding	OTTHUMT00000106480.6	A	NM_198465		105043321	+1	no_errors	ENST00000243300	ensembl	human	known	54_36p	missense	SNP	1.000	G
MYO16	23026	genome.wustl.edu	37	13	109475516	109475516	+	Silent	SNP	C	C	T	rs141603684	byFrequency	TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr13:109475516C>T	ENST00000357550.2	+	8	962	c.921C>T	c.(919-921)gcC>gcT	p.A307A	MYO16_ENST00000251041.5_Silent_p.A307A|MYO16_ENST00000356711.2_Silent_p.A307A	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTGAAAGCCGAAATTGCCT	0.383													C|||	24	0.00479233	0.0174	0.0014	5008	,	,		15469	0.0		0.0	False		,,,				2504	0.0															0			13						C	,	57,4349	55.5+/-91.7	0,57,2146	124.0	138.0	133.0		987,921	-10.7	0.1	13	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYO16	NM_001198950.1,NM_015011.1	,	0,58,6445	TT,TC,CC		0.0116,1.2937,0.4459	,	329/1881,307/1859	109475516	58,12948	2203	4300	6503	108273517	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.921C>T	13.37:g.109475516C>T			108273517		Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ	p.A307	ENST00000357550.2	37	c.921	CCDS32008.1	13																																																																																			-	NULL		0.383	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	C	NM_015011		108273517	+1	no_errors	NM_015011	genbank	human	validated	54_36p	silent	SNP	0.267	T
CCDC54	84692	genome.wustl.edu	37	3	107096886	107096886	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr3:107096886C>T	ENST00000261058.1	+	1	699	c.452C>T	c.(451-453)aCg>aTg	p.T151M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	151										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCCTGCTCCACGATACATTGT	0.403																																																0			3											65.0	57.0	60.0					3																	107096886		2203	4300	6503	108579576	SO:0001583	missense	84692			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.452C>T	3.37:g.107096886C>T	ENSP00000261058:p.Thr151Met		108579576	Q96A43	Missense_Mutation	SNP	NULL	p.T151M	ENST00000261058.1	37	c.452	CCDS2949.1	3	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124627	0.06795	.	.	ENSG00000138483	ENST00000261058	T	0.47177	0.85	5.23	-2.2	0.06994	.	1.093570	0.06993	N	0.821954	T	0.29684	0.0741	N	0.22421	0.69	0.09310	N	1	P	0.36712	0.566	B	0.33890	0.172	T	0.25984	-1.0116	10	0.56958	D	0.05	0.3978	6.6577	0.22996	0.2577:0.3754:0.3669:0.0	.	151	Q8NEL0	CCD54_HUMAN	M	151	ENSP00000261058:T151M	ENSP00000261058:T151M	T	+	2	0	CCDC54	108579576	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.103000	0.10940	-0.305000	0.08831	-0.381000	0.06696	ACG	-	NULL		0.403	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC54	protein_coding	OTTHUMT00000353651.1	C	NM_032600		108579576	+1	no_errors	NM_032600	genbank	human	provisional	54_36p	missense	SNP	0.000	T
CADPS2	93664	genome.wustl.edu	37	7	122033544	122033544	+	Missense_Mutation	SNP	C	C	T	rs368742944		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr7:122033544C>T	ENST00000449022.2	-	21	2858	c.2839G>A	c.(2839-2841)Gcc>Acc	p.A947T	CADPS2_ENST00000334010.7_Missense_Mutation_p.A945T|CADPS2_ENST00000412584.2_Missense_Mutation_p.A941T|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.A941T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	947	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATTGACTGGGCGATGGAAGAC	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19787	0.001		0.0	False		,,,				2504	0.0															0			7											149.0	141.0	144.0					7																	122033544		1954	4165	6119	121820780	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2839G>A	7.37:g.122033544C>T	ENSP00000398481:p.Ala947Thr		121820780	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	HMMPfam_C2,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041	p.A947T	ENST00000449022.2	37	c.2839	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.839646|4.839646	0.91117|0.91117	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Munc13 homology 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D;B|.	0.89917|.	1.0;1.0;1.0;0.265|.	D;D;D;B|.	0.79784|.	0.993;0.991;0.993;0.03|.	T|T	0.74697|0.74697	-0.3578|-0.3578	10|5	0.66056|.	D|.	0.02|.	-13.3657|-13.3657	20.0401|20.0401	0.97581|0.97581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	951;941;947;941|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	T|H	120;941;945;952;908;941;947|589	ENSP00000325581:A941T;ENSP00000333940:A945T;ENSP00000400401:A941T;ENSP00000398481:A947T|.	ENSP00000325581:A941T|.	A|R	-|-	1|2	0|0	CADPS2|CADPS2	121820780|121820780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.009000|6.009000	0.70745|0.70745	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCC|CGC	-	NULL		0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	protein_coding	OTTHUMT00000347414.2	C	NM_017954		121820780	-1	no_errors	NM_017954	genbank	human	validated	54_36p	missense	SNP	1.000	T
KPRP	448834	genome.wustl.edu	37	1	152733139	152733139	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:152733139C>T	ENST00000606109.1	+	1	1103	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	KPRP_ENST00000368773.1_Missense_Mutation_p.P359S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	359	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTGGCCCGCAGCCCTC	0.652																																																0			1											48.0	51.0	50.0					1																	152733139		2203	4300	6503	150999763	SO:0001583	missense	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1075C>T	1.37:g.152733139C>T	ENSP00000475216:p.Pro359Ser		150999763		Missense_Mutation	SNP	NULL	p.P359S	ENST00000606109.1	37	c.1075	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	C	5.445	0.267236	0.10294	.	.	ENSG00000203786	ENST00000368773	T	0.11604	2.76	5.3	3.32	0.38043	.	0.297053	0.24683	N	0.036460	T	0.02156	0.0067	N	0.17082	0.46	0.09310	N	1	P	0.35242	0.492	B	0.38562	0.276	T	0.44406	-0.9330	10	0.20046	T	0.44	-1.1701	7.3277	0.26566	0.1665:0.7419:0.0:0.0916	.	359	Q5T749	KPRP_HUMAN	S	359	ENSP00000357762:P359S	ENSP00000357762:P359S	P	+	1	0	KPRP	150999763	0.030000	0.19436	0.759000	0.31340	0.334000	0.28698	2.185000	0.42584	1.384000	0.46424	0.462000	0.41574	CCG	-	NULL		0.652	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	C	NM_001025231		150999763	+1	no_errors	NM_001025231	genbank	human	provisional	54_36p	missense	SNP	0.119	T
KMT2C	58508	genome.wustl.edu	37	7	151843821	151843821	+	Splice_Site	SNP	C	C	G			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr7:151843821C>G	ENST00000262189.6	-	53	14113		c.e53-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										TCCCAGACACCTACACAGGGA	0.368																																																0			7											54.0	55.0	55.0					7																	151843821		2203	4300	6503	151474754	SO:0001630	splice_region_variant	58508			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.13895-1G>C	7.37:g.151843821C>G			151474754	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	-	e53-1	ENST00000262189.6	37	c.13895-1	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063882	0.76187	.	.	ENSG00000055609	ENST00000360104;ENST00000262189;ENST00000355193;ENST00000424877	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6977	0.91607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151474754	1.000000	0.71417	0.994000	0.49952	0.778000	0.44026	7.814000	0.86154	2.414000	0.81942	0.557000	0.71058	.	-	-		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	protein_coding	OTTHUMT00000318887.3	C		Intron	151474754	-1	no_errors	NM_170606	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G
ZNF275	10838	genome.wustl.edu	37	X	152612701	152612701	+	Silent	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chrX:152612701C>T	ENST00000421401.3	+	4	735	c.558C>T	c.(556-558)tgC>tgT	p.C186C	ZNF275_ENST00000370251.3_Silent_p.C186C|ZNF275_ENST00000440091.1_Silent_p.C216C|ZNF275_ENST00000370249.2_Silent_p.C133C			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGGAGTGCGGAAAACGGT	0.607													C|||	1	0.000264901	0.0	0.0	3775	,	,		13449	0.001		0.0	False		,,,				2504	0.0															0			X											87.0	93.0	91.0					X																	152612701		2197	4288	6485	152265895	SO:0001819	synonymous_variant	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.558C>T	X.37:g.152612701C>T			152265895	A6NE92	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.C242	ENST00000421401.3	37	c.726		X																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.607	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	protein_coding		C	NM_001080485		152265895	+1	no_errors	NM_001080485	genbank	human	validated	54_36p	silent	SNP	0.767	T
TMCO1	54499	genome.wustl.edu	37	1	165788737	165788737	+	Intron	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:165788737C>T	ENST00000580248.1	-	1	286							Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CATGCCCATCCGAAAGGATGA	0.423																																																0			1																																								164055361	SO:0001627	intron_variant	391126			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000580248.1:c.416+7969G>A	1.37:g.165788737C>T			164055361	B2REA0|O75545|Q9BZS3|Q9BZU8	RNA	SNP	-	NULL	ENST00000580248.1	37	NULL		1																																																																																			-	-		0.423	TMCO1-006	PUTATIVE	basic|exp_conf	protein_coding	LOC391126	protein_coding	OTTHUMT00000444422.1	C	NM_019026		164055361	+1	pseudogene	XR_017684	genbank	human	model	54_36p	rna	SNP	1.000	T
DNM3	26052	genome.wustl.edu	37	1	171956927	171956927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:171956927C>T	ENST00000355305.5	+	3	524	c.367C>T	c.(367-369)Cga>Tga	p.R123*	DNM3_ENST00000367731.1_Nonsense_Mutation_p.R123*|DNM3_ENST00000520906.1_Nonsense_Mutation_p.R123*|DNM3_ENST00000358155.4_Nonsense_Mutation_p.R123*|DNM3_ENST00000367733.2_Nonsense_Mutation_p.R123*			Q9UQ16	DYN3_HUMAN	dynamin 3	123	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATTAATTTACGAGTCTATTC	0.333																																																0			1											118.0	125.0	123.0					1																	171956927		1843	4088	5931	170223550	SO:0001587	stop_gained	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.367C>T	1.37:g.171956927C>T	ENSP00000347457:p.Arg123*		170223550	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonsense_Mutation	SNP	HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_GED,HMMSmart_GED	p.R123*	ENST00000355305.5	37	c.367		1	.	.	.	.	.	.	.	.	.	.	C	38	6.883000	0.97908	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	.	.	.	5.16	3.24	0.37175	.	0.069248	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5692	0.33558	0.4179:0.4429:0.1392:0.0	.	.	.	.	X	123;123;123;123;123;123;13	.	ENSP00000347457:R123X	R	+	1	2	DNM3	170223550	0.920000	0.31207	0.976000	0.42696	0.987000	0.75469	1.853000	0.39358	0.532000	0.28657	0.655000	0.94253	CGA	-	HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N		0.333	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	protein_coding	OTTHUMT00000084531.1	C	NM_015569		170223550	+1	no_errors	NM_015569	genbank	human	validated	54_36p	nonsense	SNP	0.795	T
TNR	7143	genome.wustl.edu	37	1	175325554	175325554	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:175325554G>A	ENST00000367674.2	-	16	3727	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	TNR_ENST00000263525.2_Missense_Mutation_p.R1007W			Q92752	TENR_HUMAN	tenascin R	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1007W(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAACAAGCCGAAATTCCTCA	0.473																																																2	Substitution - Missense(2)	large_intestine(1)|lung(1)	1											189.0	152.0	165.0					1																	175325554		2203	4300	6503	173592177	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3019C>T	1.37:g.175325554G>A	ENSP00000356646:p.Arg1007Trp		173592177	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like	p.R1007W	ENST00000367674.2	37	c.3019	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542069	0.85917	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57752	0.38;0.38	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063421	0.64402	D	0.000004	T	0.54464	0.1860	L	0.29908	0.895	0.40611	D	0.981677	P	0.45902	0.868	P	0.49301	0.606	T	0.58148	-0.7687	10	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1007	Q92752	TENR_HUMAN	W	1007;1007;917	ENSP00000356646:R1007W;ENSP00000263525:R1007W	ENSP00000263525:R1007W	R	-	1	2	TNR	173592177	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.387000	0.79785	2.681000	0.91329	0.655000	0.94253	CGG	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285		173592177	-1	no_errors	NM_003285	genbank	human	validated	54_36p	missense	SNP	1.000	A
OR2M3	127062	genome.wustl.edu	37	1	248366893	248366893	+	Missense_Mutation	SNP	C	C	T	rs376067703		TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr1:248366893C>T	ENST00000456743.1	+	1	562	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGGGAAATAGCCCACTTCTTC	0.423																																																0			1											226.0	218.0	220.0					1																	248366893		2203	4300	6503	246433516	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.524C>T	1.37:g.248366893C>T	ENSP00000389625:p.Ala175Val		246433516	B9EH06|Q6IEY0	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A175V	ENST00000456743.1	37	c.524	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661122	0.29515	.	.	ENSG00000228198	ENST00000456743	T	0.00130	8.69	2.55	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.946348	0.08548	U	0.929409	T	0.00144	0.0004	L	0.31526	0.94	0.09310	N	1	B	0.30146	0.27	B	0.39971	0.315	T	0.09840	-1.0656	10	0.72032	D	0.01	.	5.6848	0.17797	0.5001:0.2248:0.2751:0.0	.	175	Q8NG83	OR2M3_HUMAN	V	175	ENSP00000389625:A175V	ENSP00000389625:A175V	A	+	2	0	OR2M3	246433516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.677000	0.25262	-0.038000	0.13624	0.405000	0.27470	GCC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.423	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	protein_coding	OTTHUMT00000097355.1	C	NM_001004689		246433516	+1	no_errors	NM_001004689	genbank	human	provisional	54_36p	missense	SNP	0.000	T
IL21R	50615	genome.wustl.edu	37	16	27456012	27456013	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	CC	CC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr16:27456012_27456013delCC	ENST00000337929.3	+	6	1130_1131	c.657_658delCC	c.(655-660)gacccgfs	p.P220fs	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Frame_Shift_Del_p.P220fs|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Frame_Shift_Del_p.P220fs|IL21R_ENST00000395754.4_Frame_Shift_Del_p.P220fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	220	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AATGGAGTGACCCGGTCATCTT	0.584			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16																																								27363514	SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.657_658delCC	16.37:g.27456012_27456013delCC	ENSP00000338010:p.Pro220fs		27363513	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1	p.P220fs	ENST00000337929.3	37	c.657_658	CCDS10630.1	16																																																																																			(deletion:cds_exon[27363364,27363541])	superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1		0.584	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	protein_coding	OTTHUMT00000254578.2	CC	NM_181078		27363514	+1	no_errors	NM_021798	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.884:0.839	-
CDK12	51755	genome.wustl.edu	37	17	37673794	37673796	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	GAG	GAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr17:37673794_37673796delGAG	ENST00000447079.4	+	10	2981_2983	c.2948_2950delGAG	c.(2947-2952)cgagaa>caa	p.983_984RE>Q	CDK12_ENST00000430627.2_In_Frame_Del_p.983_984RE>Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	983	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCGTCTACGAGAAGAATTCTC	0.463			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17																																								34927322	SO:0001651	inframe_deletion	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2948_2950delGAG	17.37:g.37673794_37673796delGAG	ENSP00000398880:p.Arg983_Glu984delinsGln		34927320	A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.RE983in_frame_delQ	ENST00000447079.4	37	c.2948_2950	CCDS11337.1	17																																																																																			(deletion:cds_exon[34927219,34927335])	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.463	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRKRS	protein_coding	OTTHUMT00000256941.4	GAG	NM_016507		34927322	+1	no_errors	NM_016507	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-
CCDC6	8030	genome.wustl.edu	37	10	61564179	61564185	+	Splice_Site	DEL	AGGTGAT	AGGTGAT	-			TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	AGGTGAT	AGGTGAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr10:61564179_61564185delAGGTGAT	ENST00000263102.6	-	7	1329_1335	c.1098_1104delATCACCT	c.(1096-1104)atatcacct>at	p.ISP366fs		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	366						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TATGCTCACCAGGTGATATAGGCCTGC	0.449			T	RET	NSCLC																																		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0			10																																								61234191	SO:0001630	splice_region_variant	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1105+1ATCACCT>-	10.37:g.61564179_61564185delAGGTGAT			61234185	Q15250|Q6GSG7	Frame_Shift_Del	DEL	HMMPfam_DUF2046	p.I366fs	ENST00000263102.6	37	c.1104_1098	CCDS7257.1	10																																																																																			(deletion:cds_exon[61234184,61234284])	NULL		0.449	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC6	protein_coding	OTTHUMT00000048176.2	AGGTGAT	NM_005436	Frame_Shift_Del	61234191	-1	no_errors	NM_005436	genbank	human	validated	54_36p	frame_shift_del	DEL	0.278:0.999:1.000:1.000:1.000:1.000:0.999	-
SLC27A6	28965	genome.wustl.edu	37	5	128301902	128301902	+	Frame_Shift_Del	DEL	C	C	-	rs149230836	byFrequency	TCGA-24-1842-01A-01W-0639-09	TCGA-24-1842-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	577edea6-f2dd-4b8f-b079-45c995e3d558	88e26722-56e8-4085-b90b-593c7f21f3e3	g.chr5:128301902delC	ENST00000262462.4	+	1	1082	c.72delC	c.(70-72)ttcfs	p.F24fs	SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.F24fs|SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.F24fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	24					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AACTCCTGTTCCCTTACTTTT	0.507																																																0			5											95.0	93.0	94.0					5																	128301902		2203	4300	6503	128329801	SO:0001589	frameshift_variant	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.72delC	5.37:g.128301902delC	ENSP00000262462:p.Phe24fs		128329801	Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Del	DEL	superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.P25fs	ENST00000262462.4	37	c.72	CCDS4145.1	5																																																																																			(deletion:cds_exon[128329730,128330210])	NULL		0.507	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	protein_coding	OTTHUMT00000250980.1	C	NM_014031		128329801	+1	no_errors	NM_001017372	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
