#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACSF2	80221	hgsc.bcm.edu;ucsc.edu	37	17	48549808	48549808	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:48549808A>T	ENST00000300441.4	+	12	1447	c.1343A>T	c.(1342-1344)gAg>gTg	p.E448V	ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Missense_Mutation_p.E473V|ACSF2_ENST00000502667.1_Missense_Mutation_p.E435V|ACSF2_ENST00000541920.1_Missense_Mutation_p.E288V|ACSF2_ENST00000504392.1_Missense_Mutation_p.E405V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	448					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATGAACATGGAGGCAGGGACG	0.587																																																	0													63.0	57.0	59.0					17																	48549808		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1343A>T	17.37:g.48549808A>T	ENSP00000300441:p.Glu448Val		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299332	0.40694	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.09	3.99	0.46301	AMP-dependent synthetase/ligase (1);	0.574688	0.18588	N	0.136812	T	0.43299	0.1241	L	0.48362	1.52	0.28237	N	0.925844	B;B;B;B	0.26147	0.031;0.143;0.031;0.031	B;B;B;B	0.32211	0.1;0.142;0.1;0.142	T	0.41645	-0.9497	10	0.51188	T	0.08	-5.1502	10.4112	0.44294	0.6848:0.3151:0.0:0.0	.	435;473;405;448	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	448;288;405;473;435	ENSP00000300441:E448V;ENSP00000437987:E288V;ENSP00000425964:E405V;ENSP00000401831:E473V;ENSP00000421884:E435V	ENSP00000300441:E448V	E	+	2	0	ACSF2	45904807	0.986000	0.35501	0.002000	0.10522	0.071000	0.16799	2.916000	0.48813	0.754000	0.32968	0.454000	0.30748	GAG		0.587	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149	
ABCA9	10350	hgsc.bcm.edu	37	17	67016618	67016618	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:67016618A>T	ENST00000340001.4	-	19	2722	c.2511T>A	c.(2509-2511)agT>agA	p.S837R	ABCA9_ENST00000453985.2_Missense_Mutation_p.S837R|ABCA9_ENST00000370732.2_Missense_Mutation_p.S837R|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	837					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCGCCACGCCACTGATTGTTT	0.438																																																	0													117.0	109.0	112.0					17																	67016618		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2511T>A	17.37:g.67016618A>T	ENSP00000342216:p.Ser837Arg		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482196	0.63962	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.78003	-1.14;-1.14	5.08	-9.72	0.00515	.	0.235184	0.29119	N	0.013097	T	0.72252	0.3437	M	0.76727	2.345	0.21473	N	0.999678	B;B	0.26975	0.165;0.137	B;B	0.34346	0.135;0.18	T	0.59332	-0.7474	10	0.56958	D	0.05	.	13.2467	0.60028	0.1628:0.0:0.7436:0.0935	.	837;837	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	R	837;820;837;832	ENSP00000342216:S837R;ENSP00000359767:S837R	ENSP00000342216:S837R	S	-	3	2	ABCA9	64528213	0.000000	0.05858	0.001000	0.08648	0.633000	0.38033	-3.588000	0.00422	-1.918000	0.01072	0.443000	0.29094	AGT		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386	
ADCYAP1R1	117	hgsc.bcm.edu;ucsc.edu	37	7	31121334	31121334	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:31121334C>G	ENST00000304166.4	+	6	582	c.293C>G	c.(292-294)tCt>tGt	p.S98C	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S98C|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S98C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	98					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAGGAGAGTCTGATTTTGGT	0.502																																					Ovarian(44;225 1186 2158 11092)												0													161.0	142.0	149.0					7																	31121334		2203	4300	6503	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.293C>G	7.37:g.31121334C>G	ENSP00000306620:p.Ser98Cys		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020424	0.19433	.	.	ENSG00000078549	ENST00000304166;ENST00000396211;ENST00000409489	T;T;T	0.49720	1.09;0.77;0.78	4.7	-0.229	0.13094	GPCR, family 2, extracellular hormone receptor domain (3);	1.512350	0.03274	N	0.185233	T	0.44180	0.1281	L	0.34521	1.04	0.09310	N	1	P;P;B;B	0.36599	0.56;0.487;0.0;0.427	B;B;B;B	0.43809	0.401;0.432;0.002;0.148	T	0.37244	-0.9714	10	0.36615	T	0.2	.	7.3114	0.26477	0.0:0.4486:0.0:0.5514	.	98;98;98;98	B7ZLA7;Q17S10;E9PFU5;P41586	.;.;.;PACR_HUMAN	C	98	ENSP00000306620:S98C;ENSP00000379514:S98C;ENSP00000386395:S98C	ENSP00000306620:S98C	S	+	2	0	ADCYAP1R1	31087859	0.004000	0.15560	0.003000	0.11579	0.969000	0.65631	0.134000	0.15932	-0.121000	0.11787	-0.302000	0.09304	TCT		0.502	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3		NM_001118	
ALOX15B	247	hgsc.bcm.edu;ucsc.edu	37	17	7945736	7945736	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:7945736G>T	ENST00000380183.4	+	4	638	c.499G>T	c.(499-501)Gtg>Ttg	p.V167L	ALOX15B_ENST00000572022.1_Missense_Mutation_p.V167L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.V167L|ALOX15B_ENST00000380173.2_Missense_Mutation_p.V167L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	167	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGAAAAGACAGTGGAAGACTT	0.542																																																	0													106.0	93.0	97.0					17																	7945736		2203	4300	6503	SO:0001583	missense	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.499G>T	17.37:g.7945736G>T	ENSP00000369530:p.Val167Leu		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	2.185	-0.386736	0.04966	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89552	-2.53;-2.53	4.39	0.0668	0.14363	Lipoxygenase, C-terminal (2);	0.588812	0.17391	N	0.175916	T	0.69931	0.3166	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.002;0.001	B;B;B;B	0.12837	0.002;0.008;0.003;0.002	T	0.55392	-0.8148	10	0.11485	T	0.65	-7.5759	4.0109	0.09623	0.3456:0.2695:0.3849:0.0	.	167;167;167;167	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	L	167	ENSP00000369520:V167L;ENSP00000369530:V167L	ENSP00000344337:V167L	V	+	1	0	ALOX15B	7886461	0.000000	0.05858	0.009000	0.14445	0.040000	0.13550	0.217000	0.17603	0.361000	0.24292	0.561000	0.74099	GTG		0.542	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			
AP3B1	8546	hgsc.bcm.edu	37	5	77316582	77316582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:77316582G>A	ENST00000255194.6	-	25	3101	c.2926C>T	c.(2926-2928)Cag>Tag	p.Q976*	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Nonsense_Mutation_p.Q927*	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	976					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACAGGTGGCTGAATATTAACA	0.333									Hermansky-Pudlak syndrome																																								0													104.0	98.0	100.0					5																	77316582		2203	4300	6503	SO:0001587	stop_gained	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2926C>T	5.37:g.77316582G>A	ENSP00000255194:p.Gln976*		E5RJ68|O00580|Q7Z393|Q9HD66	Nonsense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	41	8.740994	0.98935	.	.	ENSG00000132842	ENST00000255194;ENST00000519295	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8836	20.2084	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	X	976;927	.	ENSP00000255194:Q976X	Q	-	1	0	AP3B1	77352338	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.796000	0.85898	2.774000	0.95407	0.650000	0.86243	CAG		0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			
ASXL3	80816	hgsc.bcm.edu	37	18	31324446	31324446	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr18:31324446C>A	ENST00000269197.5	+	12	4634	c.4634C>A	c.(4633-4635)gCa>gAa	p.A1545E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1545					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTCGGCAGCAAAACAAGAC	0.502											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	34.0	34.0					18																	31324446		2025	4183	6208	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4634C>A	18.37:g.31324446C>A	ENSP00000269197:p.Ala1545Glu	823	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	4.578	0.107306	0.08780	.	.	ENSG00000141431	ENST00000269197	T	0.15718	2.4	6.17	2.46	0.29980	.	.	.	.	.	T	0.09202	0.0227	N	0.24115	0.695	0.09310	N	1	P	0.45902	0.868	B	0.33392	0.163	T	0.17379	-1.0371	9	0.54805	T	0.06	.	7.9588	0.30060	0.0:0.6939:0.1166:0.1894	.	1545	Q9C0F0	ASXL3_HUMAN	E	1545	ENSP00000269197:A1545E	ENSP00000269197:A1545E	A	+	2	0	ASXL3	29578444	0.019000	0.18553	0.020000	0.16555	0.010000	0.07245	1.317000	0.33631	0.491000	0.27793	-0.140000	0.14226	GCA		0.502	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			
BRF1	2972	hgsc.bcm.edu	37	14	105695184	105695184	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr14:105695184T>G	ENST00000546474.1	-	7	15720	c.761A>C	c.(760-762)aAa>aCa	p.K254T	BRF1_ENST00000392557.4_Missense_Mutation_p.K50T|BRF1_ENST00000446501.2_Missense_Mutation_p.K16T|BRF1_ENST00000379932.4_Missense_Mutation_p.K50T|BRF1_ENST00000551787.1_Missense_Mutation_p.K50T|BRF1_ENST00000379937.2_Missense_Mutation_p.K227T|BRF1_ENST00000440513.3_Missense_Mutation_p.K139T|BRF1_ENST00000327359.3_Missense_Mutation_p.K139T	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	254					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTCACACACTTTGACCACACT	0.582																																																	0													411.0	376.0	388.0					14																	105695184		2203	4300	6503	SO:0001583	missense	2972			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.761A>C	14.37:g.105695184T>G	ENSP00000448323:p.Lys254Thr		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.643679|4.643679	0.87859|0.87859	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000551787;ENST00000379932;ENST00000332890;ENST00000327359;ENST00000440513;ENST00000549655;ENST00000552127|ENST00000546417	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81069|0.81069	0.4746|0.4746	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.85130|.	0.994;0.996;0.997|.	D|D	0.85345|0.85345	0.1098|0.1098	9|5	0.66056|.	D|.	0.02|.	.|.	12.9512|12.9512	0.58401|0.58401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	139;227;254|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	T|H	50;227;254;16;50;50;50;139;139;50;50|107	.|.	ENSP00000329029:K139T|.	K|Q	-|-	2|3	0|2	BRF1|BRF1	104766229|104766229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.231000|7.231000	0.78106|0.78106	1.943000|1.943000	0.56356|0.56356	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.582	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4		NM_001519	
BRWD3	254065	hgsc.bcm.edu;ucsc.edu	37	X	79939596	79939596	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:79939596T>C	ENST00000373275.4	-	37	4362	c.4146A>G	c.(4144-4146)ggA>ggG	p.G1382G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1382	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACCATAGTTTCCTGCTTCCA	0.338																																																	0													80.0	75.0	77.0					X																	79939596		2203	4298	6501	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4146A>G	X.37:g.79939596T>C			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1		NM_153252	
BTNL8	79908	hgsc.bcm.edu	37	5	180377470	180377470	+	Missense_Mutation	SNP	G	G	A	rs113820381	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:180377470G>A	ENST00000340184.4	+	8	1635	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.A270T|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.A293T|BTNL8_ENST00000511704.1_Missense_Mutation_p.A361T|BTNL8_ENST00000400707.3_Missense_Mutation_p.A352T	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	477			A -> T (in dbSNP:rs113820381). {ECO:0000269|PubMed:15489334}.		immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGGCCTCTGCAATCCCAGA	0.507													a|||	1213	0.242212	0.556	0.1153	5008	,	,		16171	0.1171		0.1143	False		,,,				2504	0.1687																0								A	THR/ALA,THR/ALA,,THR/ALA,THR/ALA,	1953,1869		598,757,556	83.0	71.0	75.0		1429,1081,,1054,877,	-2.0	0.0	5	dbSNP_132	75	1063,6535		289,485,3025	yes	missense,missense,utr-3,missense,missense,utr-3	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	58,58,,58,58,	887,1242,3581	AA,AG,GG		13.9905,48.9011,26.4098	benign,benign,,benign,benign,	477/501,361/385,,352/376,293/317,	180377470	3016,8404	1911	3799	5710	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1429G>A	5.37:g.180377470G>A	ENSP00000342197:p.Ala477Thr		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	498	0.22802197802197802	291	0.5914634146341463	50	0.13812154696132597	64	0.11188811188811189	93	0.12269129287598944	A	0.009	-1.822179	0.00589	0.510989	0.139905	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.60171	1.35;0.66;0.64;0.21;0.25	0.981	-1.96	0.07525	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43507	-0.9387	8	0.13853	T	0.58	.	6.7613	0.23542	0.5773:0.0:0.4227:0.0	.	352;361;477	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	T	477;352;361;270;293	ENSP00000342197:A477T;ENSP00000383543:A352T;ENSP00000425207:A361T;ENSP00000427441:A270T;ENSP00000435098:A293T	ENSP00000342197:A477T	A	+	1	0	BTNL8	180310076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.136000	0.15974	-2.423000	0.00562	-2.245000	0.00285	GCA		0.507	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1		NM_024850	
C10orf82	143379	hgsc.bcm.edu;ucsc.edu	37	10	118424301	118424301	+	Silent	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:118424301G>A	ENST00000369210.3	-	4	486	c.432C>T	c.(430-432)gcC>gcT	p.A144A	C10orf82_ENST00000588184.1_Silent_p.A144A	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	144										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GTGCCTTCTTGGCCCTCTCCG	0.532																																																	0													170.0	139.0	150.0					10																	118424301		2203	4300	6503	SO:0001819	synonymous_variant	143379			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.432C>T	10.37:g.118424301G>A			B3KUM9|D3DRC3	Silent	SNP	ENST00000369210.3	37	CCDS7596.1																																																																																				0.532	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1		NM_144661	
FAM209B	388799	hgsc.bcm.edu	37	20	55108625	55108625	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr20:55108625A>C	ENST00000371325.1	+	1	324	c.228A>C	c.(226-228)caA>caC	p.Q76H		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	76						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGCAGTGTCAAAGAGACAGTG	0.463																																																	0													139.0	127.0	131.0					20																	55108625		2203	4300	6503	SO:0001583	missense	0			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.228A>C	20.37:g.55108625A>C	ENSP00000360376:p.Gln76His		Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	A	5.128	0.209258	0.09757	.	.	ENSG00000213714	ENST00000371325	T	0.08720	3.06	2.8	1.67	0.24075	.	0.400794	0.18456	N	0.140688	T	0.05960	0.0155	L	0.36672	1.1	0.09310	N	1	P	0.36944	0.574	B	0.34931	0.192	T	0.31110	-0.9955	10	0.44086	T	0.13	-9.3987	4.5392	0.12049	0.8356:0.0:0.1644:0.0	.	76	Q5JX69	CT107_HUMAN	H	76	ENSP00000360376:Q76H	ENSP00000360376:Q76H	Q	+	3	2	C20orf107	54542032	1.000000	0.71417	0.050000	0.19076	0.059000	0.15707	1.275000	0.33144	0.297000	0.22615	0.323000	0.21402	CAA		0.463	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			
CAAP1	79886	hgsc.bcm.edu	37	9	26842572	26842572	+	Silent	SNP	G	G	A	rs146970170		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:26842572G>A	ENST00000333916.5	-	6	901	c.813C>T	c.(811-813)aaC>aaT	p.N271N	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Silent_p.N126N	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	271					apoptotic process (GO:0006915)												CTGCTTCTTCGTTGCATGGGC	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19216	0.0		0.0	False		,,,				2504	0.0																0								G	,	2,4404	4.2+/-10.8	0,2,2201	228.0	226.0	227.0		378,813	-10.4	0.1	9	dbSNP_134	227	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C9orf82	NM_001167575.1,NM_024828.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	126/217,271/362	26842572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.813C>T	9.37:g.26842572G>A			B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Silent	SNP	ENST00000333916.5	37	CCDS6516.1																																																																																				0.438	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1		NM_024828	
CACNA1G	8913	hgsc.bcm.edu	37	17	48680508	48680508	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:48680508A>T	ENST00000359106.5	+	21	4117	c.4117A>T	c.(4117-4119)Atc>Ttc	p.I1373F	CACNA1G_ENST00000512389.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I1350F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.I1350F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I1350F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.I1350F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.I1373F|CACNA1G_ENST00000352832.5_Missense_Mutation_p.I1350F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.I1350F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I1350F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I1373F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I1373F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.I1350F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.I1373F|CACNA1G_ENST00000416767.4_Missense_Mutation_p.I1373F	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1373					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCACCAAGATCCTGGGCAT	0.647																																																	0													94.0	103.0	100.0					17																	48680508		2197	4284	6481	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4117A>T	17.37:g.48680508A>T	ENSP00000352011:p.Ile1373Phe		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	27.8	4.867976	0.91587	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	4.82	4.82	0.62117	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97387	0.9145	L	0.43701	1.375	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.982;1.0;0.999;0.992;1.0;0.999;0.985;1.0;0.985;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.993;1.0;1.0;0.992;1.0;1.0;1.0;0.971;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.98;1.0;0.999;0.992;0.999;0.998;0.992;0.999;0.992;1.0;0.999;0.994;0.991;0.999;0.999;0.999;1.0;0.987;0.999;1.0;0.99;0.999;0.999;1.0;0.953;1.0	D	0.98085	1.0406	10	0.62326	D	0.03	.	14.3855	0.66942	1.0:0.0:0.0:0.0	.	403;1350;1373;1373;1373;1373;1373;1373;1373;1373;1373;1373;1350;1373;1373;1373;1373;1373;1350;1373;1350;1350;1350;1350;1373;1350;1373	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	F	1350;1350;1373;1350;1350;1350;1373;1373;1350;1373;1373;1373;1373;1373;1373;1350;1373;1373;1373;1373;1350;1373;1373;1373;1373;1373;188	ENSP00000353990:I1350F;ENSP00000339302:I1350F;ENSP00000392390:I1373F;ENSP00000347078:I1350F;ENSP00000409759:I1350F;ENSP00000425522:I1350F;ENSP00000426261:I1373F;ENSP00000425451:I1373F;ENSP00000422407:I1350F;ENSP00000426814:I1373F;ENSP00000427238:I1373F;ENSP00000423112:I1373F;ENSP00000420918:I1373F;ENSP00000426172:I1373F;ENSP00000423045:I1373F;ENSP00000427173:I1350F;ENSP00000426098:I1373F;ENSP00000425698:I1373F;ENSP00000426232:I1373F;ENSP00000423317:I1373F;ENSP00000350979:I1350F;ENSP00000352011:I1373F;ENSP00000414388:I1373F;ENSP00000423155:I1373F;ENSP00000422268:I1373F;ENSP00000421518:I1373F;ENSP00000427697:I188F	ENSP00000339302:I1350F	I	+	1	0	CACNA1G	46035507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.320000	0.96346	1.812000	0.52913	0.402000	0.26972	ATC		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	
CAPRIN2	65981	hgsc.bcm.edu;ucsc.edu	37	12	30872063	30872063	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:30872063T>A	ENST00000395805.2	-	12	2687	c.2140A>T	c.(2140-2142)Agt>Tgt	p.S714C	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.S749C|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S749C|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.S416C	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAACTACTACTTGCTGGAGGT	0.473																																																	0													231.0	206.0	214.0					12																	30872063		2203	4300	6503	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2140A>T	12.37:g.30872063T>A	ENSP00000379150:p.Ser714Cys			Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027610	0.75390	.	.	ENSG00000110888	ENST00000433722;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.35	5.35	0.76521	.	1.274000	0.05111	N	0.488864	T	0.45418	0.1341	L	0.50333	1.59	0.45139	D	0.998157	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.995;0.997	D;D;D;P;D	0.68483	0.958;0.947;0.944;0.905;0.947	T	0.00423	-1.1748	10	0.62326	D	0.03	-10.096	13.9176	0.63908	0.0:0.0:0.0:1.0	.	440;714;749;749;749	E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;E4NKG2	.;.;.;CAPR2_HUMAN;.	C	495;714;749;416;749;440;668	ENSP00000415407:S495C;ENSP00000379150:S714C;ENSP00000251071:S749C;ENSP00000309785:S416C;ENSP00000391479:S749C;ENSP00000438010:S668C	ENSP00000251071:S749C	S	-	1	0	CAPRIN2	30763330	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.474000	0.45154	2.019000	0.59389	0.528000	0.53228	AGT		0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2		NM_023925	
CCDC74A	90557	hgsc.bcm.edu	37	2	132288362	132288362	+	Missense_Mutation	SNP	T	T	C	rs201632382		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:132288362T>C	ENST00000295171.6	+	3	644	c.506T>C	c.(505-507)aTg>aCg	p.M169T	CCDC74A_ENST00000409856.3_Missense_Mutation_p.M103T|CCDC74A_ENST00000467992.2_Missense_Mutation_p.M271T	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	169										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTCTCCATGTCAAGCTTC	0.637																																																	0													38.0	56.0	50.0					2																	132288362		2187	4290	6477	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.506T>C	2.37:g.132288362T>C	ENSP00000295171:p.Met169Thr		Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1	901	0.4125457875457875	256	0.5203252032520326	145	0.4005524861878453	317	0.5541958041958042	183	0.24142480211081793	.	0.004	-2.351374	0.00217	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.43294	2.04;2.1;1.04;0.95	1.57	-0.67	0.11384	.	0.998261	0.08101	N	0.997806	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44651	-0.9314	9	0.02654	T	1	-0.4664	0.5182	0.00607	0.2701:0.3325:0.2175:0.1799	.	103;169	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	T	169;103;98;271	ENSP00000295171:M169T;ENSP00000387009:M103T;ENSP00000406839:M98T;ENSP00000444610:M271T	ENSP00000295171:M169T	M	+	2	0	CCDC74A	132004832	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.660000	0.05317	-0.687000	0.05162	-1.033000	0.02402	ATG		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2		NM_138770	
CDH18	1016	hgsc.bcm.edu;ucsc.edu	37	5	19747281	19747281	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:19747281C>T	ENST00000507958.1	-	6	1283	c.293G>A	c.(292-294)gGg>gAg	p.G98E	CDH18_ENST00000274170.4_Missense_Mutation_p.G98E|CDH18_ENST00000502796.1_Missense_Mutation_p.G98E|CDH18_ENST00000382275.1_Missense_Mutation_p.G98E|CDH18_ENST00000511273.1_Missense_Mutation_p.G98E|CDH18_ENST00000506372.1_Missense_Mutation_p.G98E			Q13634	CAD18_HUMAN	cadherin 18, type 2	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G98V(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAATATAGTCCCAGCACCCTC	0.413																																																	2	Substitution - Missense(2)	lung(2)											162.0	146.0	152.0					5																	19747281		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.293G>A	5.37:g.19747281C>T	ENSP00000425093:p.Gly98Glu		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935784	0.92458	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.984	T	0.68435	-0.5409	9	.	.	.	.	17.6173	0.88071	0.0:1.0:0.0:0.0	.	98;98	B4DHG6;Q13634	.;CAD18_HUMAN	E	98;98;98;98;98;98;44;98	ENSP00000371710:G98E;ENSP00000425093:G98E;ENSP00000274170:G98E;ENSP00000424931:G98E;ENSP00000422138:G98E;ENSP00000427383:G44E;ENSP00000425854:G98E	.	G	-	2	0	CDH18	19783038	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.412000	0.80091	2.501000	0.84356	0.591000	0.81541	GGG		0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934	
C10orf105	414152	hgsc.bcm.edu	37	10	73483833	73483833	+	Intron	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:73483833T>A	ENST00000398786.2	-	2	97				CDH23_ENST00000224721.6_Missense_Mutation_p.F1139Y	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GAGGGCGAGTTTGGGCGTGTG	0.587																																																	0													64.0	73.0	70.0					10																	73483833		2055	4163	6218	SO:0001627	intron_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.5-7734A>T	10.37:g.73483833T>A				Missense_Mutation	SNP	ENST00000398786.2	37	CCDS44430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.87|15.87	2.960940|2.960940	0.53400|0.53400	.|.	.|.	ENSG00000107736|ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721|ENST00000398792	.|.	.|.	.|.	4.89|4.89	3.7|3.7	0.42460|0.42460	Cadherin (4);Cadherin-like (1);|.	0.136086|.	0.45361|.	D|.	0.000373|.	T|T	0.40719|0.40719	0.1128|0.1128	N|N	0.13327|0.13327	0.33|0.33	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.001|.	B;B|.	0.16722|.	0.016;0.01|.	T|T	0.42396|0.42396	-0.9454|-0.9454	9|6	0.56958|0.87932	D|D	0.05|0	.|.	7.6788|7.6788	0.28500|0.28500	0.4629:0.0:0.0:0.5371|0.4629:0.0:0.0:0.5371	.|.	1134;1134|.	Q6P152;Q9H251|.	.;CAD23_HUMAN|.	Y|M	1139;1134;1137|5	.|.	ENSP00000224721:F1139Y|ENSP00000381772:L5M	F|L	+|+	2|1	0|2	CDH23|CDH23	73153839|73153839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	5.557000|5.557000	0.67313|0.67313	1.827000|1.827000	0.53221|0.53221	0.449000|0.449000	0.29647|0.29647	TTT|TTG		0.587	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2		NM_001164375	
COL6A1	1291	hgsc.bcm.edu	37	21	47422537	47422537	+	Silent	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr21:47422537C>A	ENST00000361866.3	+	33	2461	c.2347C>A	c.(2347-2349)Cgg>Agg	p.R783R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	783	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.R783G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ATCCCAGGGCCGGCCCGGCCT	0.587																																																	1	Substitution - Missense(1)	ovary(1)											93.0	87.0	89.0					21																	47422537		2202	4300	6502	SO:0001819	synonymous_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2347C>A	21.37:g.47422537C>A			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	CCDS13727.1																																																																																				0.587	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1		NM_001848	
CXXC1	30827	hgsc.bcm.edu	37	18	47810394	47810394	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr18:47810394T>A	ENST00000285106.6	-	10	1997	c.1283A>T	c.(1282-1284)aAg>aTg	p.K428M	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.K428M|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.K432M|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000424334.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	428					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTCGAGCAGCTTCTTGCCGTG	0.592																																																	0													75.0	69.0	71.0					18																	47810394		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1283A>T	18.37:g.47810394T>A	ENSP00000285106:p.Lys428Met		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816555	0.70912	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26518	1.73;1.73	4.63	4.63	0.57726	CpG binding protein, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.43523	0.1251	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.79784	0.992;0.93;0.958;0.993	T	0.37244	-0.9714	10	0.72032	D	0.01	-27.2817	12.2813	0.54765	0.0:0.0:0.0:1.0	.	428;432;428;295	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	M	428;432	ENSP00000285106:K428M;ENSP00000390475:K432M	ENSP00000285106:K428M	K	-	2	0	CXXC1	46064392	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.565000	0.67365	1.849000	0.53698	0.372000	0.22366	AAG		0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2		NM_014593	
DISP2	85455	hgsc.bcm.edu	37	15	40661375	40661375	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr15:40661375T>C	ENST00000267889.3	+	8	3149	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1021					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAGGCCCTGTTTCTCTCTGCC	0.597																																																	0													77.0	73.0	74.0					15																	40661375		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3062T>C	15.37:g.40661375T>C	ENSP00000267889:p.Phe1021Ser		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750549	0.31046	.	.	ENSG00000140323	ENST00000267889	D	0.91686	-2.89	4.88	4.88	0.63580	.	0.050869	0.85682	D	0.000000	D	0.92954	0.7758	L	0.40543	1.245	0.45272	D	0.998276	D	0.76494	0.999	D	0.68943	0.961	D	0.90932	0.4791	10	0.21014	T	0.42	-12.7758	14.6562	0.68835	0.0:0.0:0.0:1.0	.	1021	A7MBM2	DISP2_HUMAN	S	1021	ENSP00000267889:F1021S	ENSP00000267889:F1021S	F	+	2	0	DISP2	38448667	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.105000	0.57797	2.045000	0.60652	0.418000	0.28097	TTT		0.597	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510	
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13922428	13922428	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:13922428A>C	ENST00000265104.4	-	5	552	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	150	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACATGTTAAAACTCACCTCC	0.443									Kartagener syndrome																																								0													36.0	35.0	35.0					5																	13922428		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.448T>G	5.37:g.13922428A>C	ENSP00000265104:p.Phe150Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.128386	0.37533	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.78049	2.395	0.80722	D	1	B	0.20261	0.043	B	0.21546	0.035	T	0.09796	-1.0658	10	0.32370	T	0.25	.	15.6918	0.77461	1.0:0.0:0.0:0.0	.	150	Q8TE73	DYH5_HUMAN	V	150	ENSP00000265104:F150V	ENSP00000265104:F150V	F	-	1	0	DNAH5	13975428	1.000000	0.71417	0.996000	0.52242	0.200000	0.23975	7.070000	0.76763	2.109000	0.64355	0.459000	0.35465	TTT		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	
E2F7	144455	hgsc.bcm.edu;ucsc.edu	37	12	77417897	77417897	+	Silent	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:77417897G>T	ENST00000322886.7	-	13	2869	c.2634C>A	c.(2632-2634)ggC>ggA	p.G878G	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	878					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTCCAAGGCTGCCGGGTGTCT	0.517																																																	0													103.0	98.0	100.0					12																	77417897		2203	4300	6503	SO:0001819	synonymous_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2634C>A	12.37:g.77417897G>T			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1																																																																																				0.517	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1		XM_084871	
EBF2	64641	hgsc.bcm.edu;ucsc.edu	37	8	25744374	25744374	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:25744374T>C	ENST00000520164.1	-	10	1443	c.906A>G	c.(904-906)agA>agG	p.R302R	EBF2_ENST00000535548.1_Silent_p.R33R|EBF2_ENST00000408929.3_Silent_p.R154R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	302	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGTCTGTACTCTGATGGCAT	0.458																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													82.0	81.0	81.0					8																	25744374		1940	4148	6088	SO:0001819	synonymous_variant	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.906A>G	8.37:g.25744374T>C			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	CCDS43726.1																																																																																				0.458	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2		NM_022659	
EBF4	57593	hgsc.bcm.edu	37	20	2730609	2730609	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr20:2730609T>A	ENST00000609451.1	+	10	1080	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	EBF4_ENST00000380648.4_Missense_Mutation_p.F332L			Q9BQW3	COE4_HUMAN	early B-cell factor 4	336	IPT/TIG.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCGGCCGCTTTGTCTACACAG	0.642																																																	0													40.0	44.0	43.0					20																	2730609		692	1591	2283	SO:0001583	missense	57593			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.1008T>A	20.37:g.2730609T>A	ENSP00000477023:p.Phe336Leu		Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	ENST00000609451.1	37		.	.	.	.	.	.	.	.	.	.	t	19.04	3.749354	0.69533	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.42131	0.98;0.98	3.98	-0.284	0.12870	.	0.000000	0.44483	D	0.000459	T	0.60196	0.2250	M	0.83118	2.625	0.41375	D	0.987514	D	0.89917	1.0	D	0.91635	0.999	T	0.59789	-0.7388	10	0.87932	D	0	-13.7416	7.6225	0.28193	0.0:0.4531:0.0:0.5469	.	332	E9PEI2	.	L	332;336	ENSP00000370022:F332L;ENSP00000345030:F336L	ENSP00000345030:F336L	F	+	3	2	EBF4	2678609	0.995000	0.38212	0.998000	0.56505	0.967000	0.64934	0.374000	0.20501	-0.103000	0.12175	0.414000	0.27820	TTT		0.642	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471930.1		XM_938882	
FAM105A	54491	hgsc.bcm.edu	37	5	14602319	14602319	+	Missense_Mutation	SNP	C	C	A	rs144733724		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:14602319C>A	ENST00000274217.3	+	5	496	c.376C>A	c.(376-378)Cac>Aac	p.H126N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	126										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTGGCGGCATCACATTAAATG	0.343																																																	0								C	ASN/HIS	1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	99.0		376	4.7	0.1	5	dbSNP_134	99	0,8600		0,0,4300	yes	missense	FAM105A	NM_019018.2	68	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	126/357	14602319	1,13005	2203	4300	6503	SO:0001583	missense	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.376C>A	5.37:g.14602319C>A	ENSP00000274217:p.His126Asn		Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.380014	0.24944	2.27E-4	0.0	ENSG00000145569	ENST00000274217	T	0.17691	2.26	4.7	4.7	0.59300	.	0.236225	0.36628	N	0.002490	T	0.17916	0.0430	L	0.51422	1.61	0.24338	N	0.994979	P	0.35272	0.493	B	0.36845	0.234	T	0.13045	-1.0524	10	0.20519	T	0.43	-13.5922	14.5074	0.67762	0.0:0.8527:0.1473:0.0	.	126	Q9NUU6	F105A_HUMAN	N	126	ENSP00000274217:H126N	ENSP00000274217:H126N	H	+	1	0	FAM105A	14655319	0.222000	0.23652	0.146000	0.22360	0.994000	0.84299	3.961000	0.56759	2.311000	0.77944	0.555000	0.69702	CAC		0.343	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1		NM_019018	
FAM129B	64855	hgsc.bcm.edu;ucsc.edu	37	9	130294041	130294041	+	Silent	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:130294041G>A	ENST00000373312.3	-	2	285	c.72C>T	c.(70-72)atC>atT	p.I24I	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Silent_p.I11I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	24					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTCCGTCAGGATCTTCCCGG	0.572																																																	0													82.0	73.0	76.0					9																	130294041		2203	4300	6503	SO:0001819	synonymous_variant	64855			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.72C>T	9.37:g.130294041G>A			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	CCDS35145.1																																																																																				0.572	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1		NM_022833	
FAM153A	285596	hgsc.bcm.edu	37	5	177161891	177161891	+	Silent	SNP	A	A	G	rs140979906	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:177161891A>G	ENST00000440605.3	-	12	760	c.477T>C	c.(475-477)ggT>ggC	p.G159G	FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Silent_p.G159G|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	159										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCTCCTCACCGTTGTAAC	0.443																																																	0													18.0	15.0	16.0					5																	177161891		2168	4266	6434	SO:0001819	synonymous_variant	285596			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.477T>C	5.37:g.177161891A>G			A8K0F3|O94852	Silent	SNP	ENST00000440605.3	37	CCDS34305.1																																																																																				0.443	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1		NM_173663	
SPATA31D1	389763	hgsc.bcm.edu	37	9	84608502	84608502	+	Silent	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:84608502A>T	ENST00000344803.2	+	4	3164	c.3117A>T	c.(3115-3117)tcA>tcT	p.S1039S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1039					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATTAGATTCAACAAGCTCAT	0.443																																																	0													155.0	160.0	159.0					9																	84608502		1868	4097	5965	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3117A>T	9.37:g.84608502A>T				Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670	
FREM2	341640	hgsc.bcm.edu	37	13	39264018	39264018	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr13:39264018T>C	ENST00000280481.7	+	1	2753	c.2537T>C	c.(2536-2538)aTc>aCc	p.I846T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	846					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTCACCACATCCTGAGTGAG	0.512																																																	0													110.0	104.0	106.0					13																	39264018		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2537T>C	13.37:g.39264018T>C	ENSP00000280481:p.Ile846Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	0.492	-0.875048	0.02550	.	.	ENSG00000150893	ENST00000280481	T	0.26957	1.7	5.8	4.61	0.57282	.	0.407398	0.27117	N	0.020848	T	0.15522	0.0374	N	0.20357	0.565	0.42558	D	0.993131	B	0.09022	0.002	B	0.14023	0.01	T	0.08330	-1.0727	10	0.13108	T	0.6	.	12.1068	0.53818	0.0:0.0683:0.0:0.9317	.	846	Q5SZK8	FREM2_HUMAN	T	846	ENSP00000280481:I846T	ENSP00000280481:I846T	I	+	2	0	FREM2	38162018	0.167000	0.22975	0.989000	0.46669	0.988000	0.76386	2.874000	0.48483	2.224000	0.72417	0.533000	0.62120	ATC		0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361	
GAS2L2	246176	hgsc.bcm.edu	37	17	34071950	34071950	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr17:34071950G>T	ENST00000254466.6	-	6	2593	c.2566C>A	c.(2566-2568)Ccc>Acc	p.P856T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P840T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	856					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGGTTGGGGGCTGCTCTCC	0.602																																																	0													85.0	66.0	73.0					17																	34071950		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2566C>A	17.37:g.34071950G>T	ENSP00000254466:p.Pro856Thr		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	9.577	1.122521	0.20877	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.17528	2.27	4.92	0.0716	0.14383	.	1.057410	0.07377	N	0.886803	T	0.09468	0.0233	N	0.24115	0.695	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.40646	-0.9552	10	0.18276	T	0.48	0.1639	3.3423	0.07123	0.2146:0.0:0.3927:0.3926	.	856	Q8NHY3	GA2L2_HUMAN	T	856;270	ENSP00000254466:P856T	ENSP00000254466:P856T	P	-	1	0	GAS2L2	31096063	0.001000	0.12720	0.006000	0.13384	0.058000	0.15608	0.122000	0.15687	0.212000	0.20703	0.462000	0.41574	CCC		0.602	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285	
GIGYF1	64599	hgsc.bcm.edu	37	7	100282980	100282980	+	Silent	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:100282980G>A	ENST00000275732.5	-	10	2388	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	393					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGCCGCTGGGGGCTCTTTCT	0.667																																																	0													58.0	58.0	58.0					7																	100282980		2203	4300	6503	SO:0001819	synonymous_variant	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1179C>T	7.37:g.100282980G>A			Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	CCDS34708.1																																																																																				0.667	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574	
GLS	2744	hgsc.bcm.edu	37	2	191792046	191792046	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:191792046A>C	ENST00000320717.3	+	12	1521	c.1263A>C	c.(1261-1263)gaA>gaC	p.E421D	GLS_ENST00000409626.1_5'UTR|GLS_ENST00000409428.1_5'Flank|GLS_ENST00000338435.4_Missense_Mutation_p.E421D|GLS_ENST00000409215.1_5'Flank	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	421					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GCTCCATTGAAGTGACTTGTG	0.383																																																	0													114.0	107.0	109.0					2																	191792046		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1263A>C	2.37:g.191792046A>C	ENSP00000317379:p.Glu421Asp		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932328	0.73442	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.48522	0.81;0.81	5.62	0.721	0.18219	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.82923	2.615	0.80722	D	1	P;P;P;P	0.40534	0.72;0.557;0.72;0.673	P;B;P;B	0.47162	0.54;0.404;0.54;0.405	T	0.57230	-0.7847	10	0.59425	D	0.04	-27.0246	9.0797	0.36545	0.7215:0.0:0.2785:0.0	.	421;75;421;421	A8K132;Q68D38;O94925;O94925-3	.;.;GLSK_HUMAN;.	D	421	ENSP00000317379:E421D;ENSP00000340689:E421D	ENSP00000317379:E421D	E	+	3	2	GLS	191500291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.374000	0.34283	0.160000	0.19432	0.528000	0.53228	GAA		0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			
GNPDA1	10007	hgsc.bcm.edu	37	5	141391485	141391485	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr5:141391485A>T	ENST00000508177.1	-	1	874	c.116T>A	c.(115-117)cTc>cAc	p.L39H	GNPDA1_ENST00000458112.2_Missense_Mutation_p.L39H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.L39H|GNPDA1_ENST00000503794.1_Missense_Mutation_p.L39H|GNPDA1_ENST00000500692.2_Missense_Mutation_p.L39H|GNPDA1_ENST00000311337.6_Missense_Mutation_p.L39H|GNPDA1_ENST00000513454.1_Missense_Mutation_p.L39H			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	39					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGGGGAGCCCCAGGGT	0.582																																																	0													84.0	81.0	82.0					5																	141391485		2203	4300	6503	SO:0001583	missense	10007			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.116T>A	5.37:g.141391485A>T	ENSP00000423674:p.Leu39His		B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.959348	0.92726	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000504139;ENST00000505689;ENST00000510194;ENST00000503229	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;0.45;-0.12;-0.12;-0.12;-0.12	5.18	5.18	0.71444	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	H	0.99074	4.42	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93016	0.6436	10	0.87932	D	0	-22.3852	15.3299	0.74200	1.0:0.0:0.0:0.0	.	39;39	E7EVU7;P46926	.;GNPI1_HUMAN	H	39	ENSP00000423494:L39H;ENSP00000311876:L39H;ENSP00000387718:L39H;ENSP00000424275:L39H;ENSP00000423674:L39H;ENSP00000423485:L39H;ENSP00000445143:L39H;ENSP00000424625:L39H;ENSP00000421524:L39H;ENSP00000424537:L39H;ENSP00000422173:L39H	ENSP00000311876:L39H	L	-	2	0	GNPDA1	141371669	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.917000	0.92751	2.087000	0.62958	0.533000	0.62120	CTC		0.582	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1		NM_005471	
GPR173	54328	hgsc.bcm.edu	37	X	53106303	53106303	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:53106303T>G	ENST00000332582.4	+	2	991	c.500T>G	c.(499-501)tTt>tGt	p.F167C		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	167					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACCTACAAGTTTATTCGGGAG	0.562																																																	0													56.0	49.0	51.0					X																	53106303		2203	4300	6503	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.500T>G	X.37:g.53106303T>G	ENSP00000331600:p.Phe167Cys		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607801	0.46527	.	.	ENSG00000184194	ENST00000332582	T	0.38077	1.16	4.17	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.72118	2.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.48614	-0.9020	10	0.51188	T	0.08	-3.6789	7.0784	0.25217	0.0:0.1124:0.0:0.8876	.	167	Q9NS66	GP173_HUMAN	C	167	ENSP00000331600:F167C	ENSP00000331600:F167C	F	+	2	0	GPR173	53123028	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.868000	0.87116	0.502000	0.28037	0.430000	0.28490	TTT		0.562	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2		NM_018969	
GSTCD	79807	hgsc.bcm.edu	37	4	106638847	106638847	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr4:106638847T>G	ENST00000515279.1	+	2	297	c.77T>G	c.(76-78)aTc>aGc	p.I26S	GSTCD_ENST00000394728.3_Missense_Mutation_p.I26S|GSTCD_ENST00000394730.3_Missense_Mutation_p.I26S|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Missense_Mutation_p.I26S|GSTCD_ENST00000360505.5_Missense_Mutation_p.I26S			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	26						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GAAGGATGCATCTTTCCTCTT	0.348																																																	0													96.0	93.0	94.0					4																	106638847		2203	4300	6503	SO:0001583	missense	79807			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.77T>G	4.37:g.106638847T>G	ENSP00000422354:p.Ile26Ser		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450313	0.26074	.	.	ENSG00000138780	ENST00000512828;ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.71	5.71	0.89125	.	0.411800	0.29699	N	0.011432	T	0.60157	0.2247	L	0.55481	1.735	0.39701	D	0.971188	B;B	0.27316	0.126;0.175	B;B	0.27887	0.032;0.084	T	0.60777	-0.7196	9	0.48119	T	0.1	-10.322	15.9924	0.80217	0.0:0.0:0.0:1.0	.	26;26	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	S	26	.	ENSP00000353695:I26S	I	+	2	0	GSTCD	106858296	1.000000	0.71417	0.980000	0.43619	0.749000	0.42624	4.329000	0.59260	2.187000	0.69744	0.533000	0.62120	ATC		0.348	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1		NM_024751	
HIAT1	64645	hgsc.bcm.edu;ucsc.edu	37	1	100503799	100503799	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:100503799G>C	ENST00000370152.3	+	1	147	c.11G>C	c.(10-12)gGg>gCg	p.G4A	RP4-714D9.5_ENST00000564623.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	4					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATGACCCAGGGGAAGAAGAAG	0.637																																																	0													67.0	60.0	62.0					1																	100503799		2180	4243	6423	SO:0001583	missense	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.11G>C	1.37:g.100503799G>C	ENSP00000359171:p.Gly4Ala		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416469	0.42918	.	.	ENSG00000156875	ENST00000370152	T	0.31247	1.5	4.8	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);	0.175896	0.37623	N	0.002003	T	0.06962	0.0177	L	0.29908	0.895	0.32793	N	0.500945	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.12103	T	0.63	-4.6341	8.593	0.33699	0.1813:0.0:0.8187:0.0	.	4	Q96MC6	HIAT1_HUMAN	A	4	ENSP00000359171:G4A	ENSP00000359171:G4A	G	+	2	0	HIAT1	100276387	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	0.865000	0.27940	1.003000	0.39130	0.462000	0.41574	GGG		0.637	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1		NM_033055	
HIVEP2	3097	hgsc.bcm.edu;ucsc.edu	37	6	143091371	143091371	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:143091371G>A	ENST00000367604.1	-	4	5144	c.4505C>T	c.(4504-4506)tCt>tTt	p.S1502F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1502F|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1502F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTTGGCTCAGAAGCACATCC	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													99.0	109.0	105.0					6																	143091371		2056	4186	6242	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4505C>T	6.37:g.143091371G>A	ENSP00000356576:p.Ser1502Phe		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760906	0.69763	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02498	4.27;4.27;4.27	6.17	6.17	0.99709	.	0.326994	0.36444	N	0.002597	T	0.04907	0.0132	L	0.50333	1.59	0.48830	D	0.999718	D	0.54397	0.966	P	0.50440	0.641	T	0.38200	-0.9672	10	0.62326	D	0.03	-20.2207	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1502	P31629	ZEP2_HUMAN	F	1502	ENSP00000356576:S1502F;ENSP00000356575:S1502F;ENSP00000012134:S1502F	ENSP00000012134:S1502F	S	-	2	0	HIVEP2	143133064	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.683000	0.91236	2.941000	0.99782	0.655000	0.94253	TCT		0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			
HS1BP3	64342	hgsc.bcm.edu;ucsc.edu	37	2	20824634	20824634	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:20824634T>C	ENST00000304031.3	-	5	667	c.642A>G	c.(640-642)aaA>aaG	p.K214K		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	214	Pro-rich.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGGATGTTTCTTGGGCT	0.597																																																	0													85.0	88.0	87.0					2																	20824634		2203	4300	6503	SO:0001819	synonymous_variant	64342				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.642A>G	2.37:g.20824634T>C			B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	T	9.091	1.001792	0.19121	.	.	ENSG00000118960	ENST00000445102	.	.	.	4.7	-0.426	0.12314	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.26541	N	0.974073	.	.	.	.	.	.	T	0.31166	-0.9953	4	.	.	.	-7.3151	7.5798	0.27959	0.0:0.4435:0.0:0.5565	.	.	.	.	A	7	.	.	T	-	1	0	HS1BP3	20688115	0.021000	0.18746	0.288000	0.24862	0.358000	0.29455	-0.189000	0.09629	0.021000	0.15133	0.533000	0.62120	ACA		0.597	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1		NM_022460	
HSPA12A	259217	hgsc.bcm.edu;ucsc.edu	37	10	118435938	118435938	+	Silent	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:118435938C>T	ENST00000369209.3	-	11	1466	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	454						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TATCGATGGTCGGCTTAAAAA	0.552																																																	0													145.0	144.0	144.0					10																	118435938		2096	4239	6335	SO:0001819	synonymous_variant	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1362G>A	10.37:g.118435938C>T				Silent	SNP	ENST00000369209.3	37	CCDS41569.1																																																																																				0.552	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1		NM_025015	
IFNGR2	3460	hgsc.bcm.edu	37	21	34809269	34809269	+	Nonstop_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr21:34809269A>T	ENST00000290219.6	+	7	1662	c.1014A>T	c.(1012-1014)tgA>tgT	p.*338C	TMEM50B_ENST00000468874.2_5'UTR|IFNGR2_ENST00000405436.1_Nonstop_Mutation_p.*259C|IFNGR2_ENST00000381995.1_Nonstop_Mutation_p.*357C	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	0					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AAACGCTTTGAACCAAAGCAT	0.507																																																	0													86.0	72.0	76.0					21																	34809269		2203	4300	6503	SO:0001578	stop_lost	3460				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.1014A>T	21.37:g.34809269A>T	ENSP00000290219:p.*338Cysext*6		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904242	0.33628	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	.	.	.	4.67	0.764	0.18465	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0616	0.14560	0.5385:0.3642:0.0973:0.0	.	.	.	.	C	338;357;259	.	.	X	+	3	0	IFNGR2	33731139	0.030000	0.19436	0.001000	0.08648	0.118000	0.20060	0.909000	0.28558	0.040000	0.15660	0.460000	0.39030	TGA		0.507	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			
INHBE	83729	hgsc.bcm.edu;ucsc.edu	37	12	57850460	57850460	+	Missense_Mutation	SNP	C	C	G	rs375663495		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:57850460C>G	ENST00000266646.2	+	2	1098	c.882C>G	c.(880-882)ttC>ttG	p.F294L	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	294					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CTGCCTCTTTCCATTCTGCCG	0.612											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0													105.0	80.0	88.0					12																	57850460		2203	4300	6503	SO:0001583	missense	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.882C>G	12.37:g.57850460C>G	ENSP00000266646:p.Phe294Leu	1026		Missense_Mutation	SNP	ENST00000266646.2	37	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935066	0.92458	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;D	0.83075	-1.68;-1.68	4.79	4.79	0.61399	Transforming growth factor-beta, C-terminal (3);	0.052180	0.85682	D	0.000000	D	0.87103	0.6094	L	0.61218	1.895	0.80722	D	1	P	0.50066	0.931	P	0.53988	0.739	D	0.87471	0.2414	10	0.51188	T	0.08	-15.3388	17.1522	0.86781	0.0:1.0:0.0:0.0	.	294	P58166	INHBE_HUMAN	L	239;294	ENSP00000450212:F239L;ENSP00000266646:F294L	ENSP00000266646:F294L	F	+	3	2	INHBE	56136727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.853000	0.55941	2.653000	0.90120	0.655000	0.94253	TTC		0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1		NM_031479	
KDM5C	8242	hgsc.bcm.edu	37	X	53245090	53245090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:53245090C>A	ENST00000375401.3	-	7	1382	c.850G>T	c.(850-852)Gag>Tag	p.E284*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E284*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.E217*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E243*|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E283*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	284					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GATGTTGACTCCACCTTCACA	0.552			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													203.0	149.0	168.0					X																	53245090		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.850G>T	X.37:g.53245090C>A	ENSP00000364550:p.Glu284*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	39	7.519673	0.98335	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.18	5.18	0.71444	.	0.224235	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.7864	13.0906	0.59166	0.0:1.0:0.0:0.0	.	.	.	.	X	217;284;283;284;243	.	ENSP00000364528:E284X	E	-	1	0	KDM5C	53261815	0.997000	0.39634	0.998000	0.56505	0.380000	0.30137	3.442000	0.52900	2.149000	0.67028	0.483000	0.47432	GAG		0.552	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KIAA2018	205717	hgsc.bcm.edu	37	3	113379781	113379782	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:113379781_113379782delCA	ENST00000478658.1	-	5	764_765	c.747_748delTG	c.(745-750)cttggtfs	p.G250fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.G250fs			Q68DE3	K2018_HUMAN	KIAA2018	250						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTAGTGGCACCAAGCACATTTG	0.446																																																	0																																										SO:0001589	frameshift_variant	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.747_748delTG	3.37:g.113379781_113379782delCA	ENSP00000420721:p.Gly250fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	CCDS43133.1																																																																																				0.446	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899	
KIF4A	24137	hgsc.bcm.edu	37	X	69637742	69637742	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:69637742C>T	ENST00000374403.3	+	29	3342	c.3260C>T	c.(3259-3261)tCc>tTc	p.S1087F		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1087	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGCAGTGTTCCTGCAAGGGC	0.453																																																	0													108.0	82.0	91.0					X																	69637742		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3260C>T	X.37:g.69637742C>T	ENSP00000363524:p.Ser1087Phe		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	c	12.95	2.092685	0.36952	.	.	ENSG00000090889	ENST00000374403;ENST00000544650	D	0.90261	-2.64	5.24	5.24	0.73138	.	0.253914	0.31335	N	0.007835	D	0.83294	0.5223	L	0.31294	0.92	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.77070	-0.2724	9	.	.	.	.	10.7125	0.45993	0.0:0.9073:0.0:0.0927	.	1087	O95239	KIF4A_HUMAN	F	1087;389	ENSP00000363524:S1087F	.	S	+	2	0	KIF4A	69554467	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.247000	0.43151	2.440000	0.82611	0.479000	0.44913	TCC		0.453	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1		NM_012310	
KTN1	3895	hgsc.bcm.edu;ucsc.edu	37	14	56103977	56103977	+	Silent	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr14:56103977A>G	ENST00000395314.3	+	11	1679	c.1611A>G	c.(1609-1611)acA>acG	p.T537T	KTN1_ENST00000395309.3_Silent_p.T537T|KTN1_ENST00000395311.1_Silent_p.T537T|KTN1_ENST00000416613.1_Silent_p.T537T|KTN1_ENST00000413890.2_Silent_p.T537T|KTN1_ENST00000438792.2_Silent_p.T537T|KTN1_ENST00000395308.1_Silent_p.T537T	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	537					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTAAGCTTACAGATACCTTGG	0.358			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													105.0	107.0	106.0					14																	56103977		2202	4300	6502	SO:0001819	synonymous_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1611A>G	14.37:g.56103977A>G			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																				0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			
LAPTM4B	55353	hgsc.bcm.edu	37	8	98817636	98817636	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:98817636A>G	ENST00000521545.2	+	2	389	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.Q143R			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	196					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GATCCGGATCAGTATAACTTT	0.378																																																	0													155.0	150.0	152.0					8																	98817636		2203	4300	6503	SO:0001583	missense	55353			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.155A>G	8.37:g.98817636A>G	ENSP00000428409:p.Gln52Arg		Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.08|12.08	1.829645|1.829645	0.32329|0.32329	.|.	.|.	ENSG00000104341|ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545|ENST00000517924	T;T|.	0.45276|.	0.9;0.94|.	5.07|5.07	3.91|3.91	0.45181|0.45181	.|.	0.128696|.	0.53938|.	D|.	0.000051|.	T|T	0.36717|0.36717	0.0977|0.0977	N|N	0.13043|0.13043	0.29|0.29	0.39585|0.39585	D|D	0.969493|0.969493	B|.	0.23128|.	0.08|.	B|.	0.20955|.	0.032|.	T|T	0.18587|0.18587	-1.0332|-1.0332	10|5	0.42905|.	T|.	0.14|.	-8.3472|-8.3472	8.2245|8.2245	0.31560|0.31560	0.907:0.0:0.093:0.0|0.907:0.0:0.093:0.0	.|.	196|.	Q86VI4|.	LAP4B_HUMAN|.	R|G	143;189;52|106	ENSP00000402301:Q143R;ENSP00000428409:Q52R|.	ENSP00000367995:Q189R|.	Q|S	+|+	2|1	0|0	LAPTM4B|LAPTM4B	98886812|98886812	1.000000|1.000000	0.71417|0.71417	0.496000|0.496000	0.27539|0.27539	0.395000|0.395000	0.30598|0.30598	4.715000|4.715000	0.61909|0.61909	2.036000|2.036000	0.60181|0.60181	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.378	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			
LCMT2	9836	hgsc.bcm.edu	37	15	43621544	43621544	+	Silent	SNP	G	G	T	rs561380150		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr15:43621544G>T	ENST00000305641.5	-	1	1259	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	382					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CGGCAGTGCCGCCCCTCCTGC	0.547																																																	0													68.0	68.0	68.0					15																	43621544		2201	4299	6500	SO:0001819	synonymous_variant	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1144C>A	15.37:g.43621544G>T			Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	CCDS10094.1																																																																																				0.547	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1		NM_014793	
LMAN1L	79748	hgsc.bcm.edu;ucsc.edu	37	15	75115023	75115023	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr15:75115023C>G	ENST00000309664.5	+	11	1311	c.1172C>G	c.(1171-1173)aCt>aGt	p.T391S	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.T379S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	391						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGACAGTGGACTCTGCTCCAG	0.602																																																	0													53.0	52.0	52.0					15																	75115023		2197	4296	6493	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1172C>G	15.37:g.75115023C>G	ENSP00000310431:p.Thr391Ser		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422097	0.25639	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39997	1.13;1.05	4.85	2.92	0.33932	.	0.722003	0.12846	N	0.434387	T	0.45337	0.1337	N	0.22421	0.69	0.21740	N	0.999567	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.19063	-1.0317	10	0.41790	T	0.15	.	6.7087	0.23264	0.0:0.7241:0.1794:0.0965	.	379;391	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	S	391;379	ENSP00000310431:T391S;ENSP00000369031:T379S	ENSP00000310431:T391S	T	+	2	0	LMAN1L	72902076	0.970000	0.33590	0.786000	0.31890	0.105000	0.19272	1.157000	0.31724	0.732000	0.32470	0.462000	0.41574	ACT		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			
RPL36	25873	hgsc.bcm.edu	37	19	5693589	5693589	+	IGR	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:5693589A>T	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Missense_Mutation_p.S708T|LONP1_ENST00000585374.1_Missense_Mutation_p.S724T|LONP1_ENST00000360614.3_Missense_Mutation_p.S838T|LONP1_ENST00000540670.2_Missense_Mutation_p.S642T|LONP1_ENST00000593119.1_Missense_Mutation_p.S774T			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TGGATGTGTGAGGTCACCAGG	0.662																																																	0													145.0	111.0	122.0					19																	5693589		2203	4300	6503	SO:0001628	intergenic_variant	9361				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693589A>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815716	0.50527	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.29142	1.58;1.58	4.48	4.48	0.54585	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.139328	0.50627	D	0.000118	T	0.22282	0.0537	L	0.31294	0.92	0.42035	D	0.991041	B;B;B	0.30193	0.272;0.037;0.114	B;B;B	0.28232	0.087;0.061;0.087	T	0.06144	-1.0843	10	0.36615	T	0.2	-11.0707	11.7256	0.51708	1.0:0.0:0.0:0.0	.	838;774;838	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	838;802;642	ENSP00000353826:S838T;ENSP00000441523:S642T	ENSP00000351177:S802T	S	-	1	0	LONP1	5644589	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.411000	0.66386	1.641000	0.50575	0.448000	0.29417	TCA		0.662	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1		NM_015414	
LOXL3	84695	hgsc.bcm.edu;ucsc.edu	37	2	74763244	74763244	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:74763244C>T	ENST00000264094.3	-	7	1198	c.1127G>A	c.(1126-1128)tGc>tAc	p.C376Y	LOXL3_ENST00000409986.1_Missense_Mutation_p.C231Y|LOXL3_ENST00000409549.1_Missense_Mutation_p.C376Y|LOXL3_ENST00000393937.2_Missense_Mutation_p.C231Y|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	376	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGTCCAGAGCAGCGAACTTC	0.537																																																	0													84.0	85.0	85.0					2																	74763244		2203	4300	6503	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1127G>A	2.37:g.74763244C>T	ENSP00000264094:p.Cys376Tyr		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947618	0.73787	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.09	5.09	0.68999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.92084	0.7491	H	0.99922	4.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.95324	0.8423	10	0.87932	D	0	.	16.3805	0.83460	0.0:1.0:0.0:0.0	.	231;376;231;376	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Y	376;231;376;231	ENSP00000264094:C376Y;ENSP00000377512:C231Y;ENSP00000386696:C376Y;ENSP00000386545:C231Y	ENSP00000264094:C376Y	C	-	2	0	LOXL3	74616752	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.452000	0.80683	2.806000	0.96561	0.551000	0.68910	TGC		0.537	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603	
LRIG3	121227	hgsc.bcm.edu;ucsc.edu	37	12	59271294	59271294	+	Silent	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:59271294C>A	ENST00000320743.3	-	15	2710	c.2424G>T	c.(2422-2424)gtG>gtT	p.V808V	LRIG3_ENST00000379141.4_Silent_p.V748V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	808					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCACGACACCCACAGTGGCCC	0.567			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													204.0	117.0	147.0					12																	59271294		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2424G>T	12.37:g.59271294C>A			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.567	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1		NM_153377	
LRRC15	131578	hgsc.bcm.edu	37	3	194081358	194081358	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:194081358G>T	ENST00000347624.3	-	2	500	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	LRRC15_ENST00000428839.1_Missense_Mutation_p.Q145K|LRRC15_ENST00000439944.2_Missense_Mutation_p.Q145K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	139					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGCTGGATCTGCAACAGCTGG	0.597																																																	0													64.0	66.0	65.0					3																	194081358		2203	4300	6503	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.415C>A	3.37:g.194081358G>T	ENSP00000306276:p.Gln139Lys		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	5.085	0.201352	0.09652	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.23147	1.92;3.69;3.69	4.8	4.8	0.61643	.	0.319686	0.27270	N	0.020139	T	0.14399	0.0348	N	0.10629	0.01	0.35576	D	0.805885	P;P	0.42941	0.514;0.794	B;B	0.39805	0.216;0.31	T	0.10291	-1.0636	10	0.09084	T	0.74	.	18.7514	0.91818	0.0:0.0:1.0:0.0	.	139;145	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	K	139;145;145	ENSP00000306276:Q139K;ENSP00000389128:Q145K;ENSP00000413707:Q145K	ENSP00000306276:Q139K	Q	-	1	0	LRRC15	195562653	0.880000	0.30214	1.000000	0.80357	0.863000	0.49368	3.708000	0.54845	2.602000	0.87976	0.462000	0.41574	CAG		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			
LTA4H	4048	hgsc.bcm.edu	37	12	96421314	96421314	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:96421314A>G	ENST00000228740.2	-	3	460	c.319T>C	c.(319-321)Ttt>Ctt	p.F107L	LTA4H_ENST00000413268.2_Missense_Mutation_p.F83L|LTA4H_ENST00000552789.1_Missense_Mutation_p.F83L|RP11-256L6.2_ENST00000547346.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	107					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	GAGGTCTCAAAAGAAATTTCT	0.348																																																	0													56.0	59.0	58.0					12																	96421314		2203	4300	6503	SO:0001583	missense	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.319T>C	12.37:g.96421314A>G	ENSP00000228740:p.Phe107Leu		B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.579180	0.46006	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.03441	3.93;3.93;3.93	5.79	5.79	0.91817	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.305862	0.38058	N	0.001827	T	0.04182	0.0116	N	0.17474	0.49	0.50313	D	0.999863	B;B;B	0.28667	0.219;0.099;0.022	B;B;B	0.32583	0.148;0.096;0.098	T	0.52533	-0.8563	10	0.59425	D	0.04	-24.7051	16.1376	0.81497	1.0:0.0:0.0:0.0	.	83;83;107	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	L	107;83;83	ENSP00000228740:F107L;ENSP00000449958:F83L;ENSP00000395051:F83L	ENSP00000228740:F107L	F	-	1	0	LTA4H	94945445	1.000000	0.71417	0.974000	0.42286	0.021000	0.10359	6.907000	0.75724	2.212000	0.71576	0.533000	0.62120	TTT		0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1		NM_000895	
LY75	4065	hgsc.bcm.edu	37	2	160697359	160697359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:160697359C>A	ENST00000263636.4	-	25	3415	c.3388G>T	c.(3388-3390)Gag>Tag	p.E1130*	LY75_ENST00000553424.1_Nonsense_Mutation_p.E1130*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.E1130*|LY75_ENST00000554112.1_Nonsense_Mutation_p.E1130*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.E1130*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1130	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGACACTCCCTTTTAGCA	0.448																																																	0													231.0	221.0	224.0					2																	160697359		2203	4300	6503	SO:0001587	stop_gained	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3388G>T	2.37:g.160697359C>A	ENSP00000263636:p.Glu1130*		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588106	0.97684	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.6886	16.3193	0.82939	0.0:1.0:0.0:0.0	.	.	.	.	X	1130	.	ENSP00000423463:E1130X	E	-	1	0	LY75;LY75-CD302	160405605	0.953000	0.32496	0.377000	0.26055	0.029000	0.11900	2.133000	0.42093	2.577000	0.86979	0.655000	0.94253	GAG		0.448	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			
MARVELD3	91862	hgsc.bcm.edu	37	16	71663303	71663303	+	Silent	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:71663303C>T	ENST00000268485.3	+	2	545	c.501C>T	c.(499-501)acC>acT	p.T167T	MARVELD3_ENST00000299952.4_Silent_p.T167T|MARVELD3_ENST00000565261.1_Missense_Mutation_p.P113L|MARVELD3_ENST00000567566.1_Silent_p.T167T|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000567501.1_5'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	167	Pro-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGCCCTCGACCCCCAGGCCTG	0.507																																																	0													94.0	88.0	90.0					16																	71663303		2198	4300	6498	SO:0001819	synonymous_variant	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.501C>T	16.37:g.71663303C>T			A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	CCDS10904.1																																																																																				0.507	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2		NM_052858	
MDH1B	130752	hgsc.bcm.edu	37	2	207619861	207619861	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:207619861A>C	ENST00000374412.3	-	5	1057	c.782T>G	c.(781-783)gTa>gGa	p.V261G	MDH1B_ENST00000454776.2_Missense_Mutation_p.V261G|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.V163G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	261					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTTCAGGTTTACAAAGGTTCT	0.507																																					Pancreas(76;29 1355 28675 37177 51207)												0													130.0	116.0	120.0					2																	207619861		2203	4300	6503	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.782T>G	2.37:g.207619861A>C	ENSP00000363533:p.Val261Gly		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459830	0.26248	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.12465	2.68;2.68;2.68	5.69	5.69	0.88448	NAD(P)-binding domain (1);	0.252122	0.39341	N	0.001382	T	0.20414	0.0491	M	0.64997	1.995	0.80722	D	1	P;P	0.40970	0.734;0.615	P;B	0.44597	0.454;0.266	T	0.00849	-1.1541	10	0.87932	D	0	-22.9862	10.3651	0.44019	0.8843:0.0:0.1157:0.0	.	261;261	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	G	261;163;261	ENSP00000363533:V261G;ENSP00000416577:V163G;ENSP00000389916:V261G	ENSP00000363533:V261G	V	-	2	0	MDH1B	207328106	1.000000	0.71417	0.870000	0.34147	0.009000	0.06853	4.566000	0.60843	2.291000	0.77112	0.533000	0.62120	GTA		0.507	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2		NM_001039845	
MLLT4	4301	hgsc.bcm.edu	37	6	168273013	168273013	+	Silent	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:168273013A>T	ENST00000447894.2	+	4	534	c.534A>T	c.(532-534)cgA>cgT	p.R178R	MLLT4_ENST00000366806.2_Silent_p.R178R|MLLT4_ENST00000392112.1_Silent_p.R177R|MLLT4_ENST00000351017.4_Silent_p.R178R|MLLT4_ENST00000400822.3_Silent_p.R177R|MLLT4_ENST00000344191.4_Silent_p.R178R|MLLT4_ENST00000392108.3_Silent_p.R178R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	178					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		agGCATTGCGACAGGCATCTG	0.393			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													102.0	107.0	105.0					6																	168273013		2203	4299	6502	SO:0001819	synonymous_variant	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.534A>T	6.37:g.168273013A>T			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37																																																																																					0.393	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936	
MYH14	79784	hgsc.bcm.edu	37	19	50762505	50762505	+	Silent	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:50762505C>T	ENST00000596571.1	+	16	2214	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	MYH14_ENST00000440075.2_Silent_p.F779F|MYH14_ENST00000262269.8_Silent_p.F779F|MYH14_ENST00000425460.1_Silent_p.F746F|MYH14_ENST00000376970.2_Silent_p.F771F|MYH14_ENST00000601313.1_Silent_p.F779F|MYH14_ENST00000598205.1_Silent_p.F746F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	738	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCATCCTCTTCCAGGAGTTCC	0.682																																																	0													13.0	16.0	15.0					19																	50762505		2176	4281	6457	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2214C>T	19.37:g.50762505C>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																				0.682	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2		NM_024729	
NEDD1	121441	hgsc.bcm.edu	37	12	97303545	97303545	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr12:97303545A>T	ENST00000266742.4	+	3	347	c.8A>T	c.(7-9)gAa>gTa	p.E3V	NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_Missense_Mutation_p.E3V|NEDD1_ENST00000557644.1_Missense_Mutation_p.E10V|NEDD1_ENST00000457368.2_5'Flank	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	3					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GTCATGCAGGAAAACCTCAGA	0.328																																																	0													85.0	82.0	83.0					12																	97303545		2203	4300	6503	SO:0001583	missense	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.8A>T	12.37:g.97303545A>T	ENSP00000266742:p.Glu3Val		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228693	0.79576	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000557644	T;T;T;T;T	0.59364	0.27;0.27;0.98;0.78;0.56	5.46	5.46	0.80206	WD40-repeat-containing domain (1);	0.094457	0.64402	D	0.000001	T	0.69780	0.3149	L	0.53249	1.67	0.80722	D	1	D;D	0.67145	0.996;0.988	P;P	0.62298	0.9;0.723	T	0.73269	-0.4036	10	0.87932	D	0	-24.0788	15.5369	0.76011	1.0:0.0:0.0:0.0	.	10;3	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	V	3;3;10;3;3;10	ENSP00000266742:E3V;ENSP00000404978:E3V;ENSP00000450881:E10V;ENSP00000451869:E3V;ENSP00000451211:E10V	ENSP00000266742:E3V	E	+	2	0	NEDD1	95827676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.239000	0.78182	2.087000	0.62958	0.459000	0.35465	GAA		0.328	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			
NTN5	126147	hgsc.bcm.edu	37	19	49167834	49167834	+	Splice_Site	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:49167834A>G	ENST00000270235.4	-	3	916		c.e3+1		SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GGCCACACTCACCTCTGCAGG	0.677																																																	0													28.0	25.0	26.0					19																	49167834		2202	4300	6502	SO:0001630	splice_region_variant	126147				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.820+1T>C	19.37:g.49167834A>G			Q8N4X9|Q8WU63	Splice_Site	SNP	ENST00000270235.4	37	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113659	0.56398	.	.	ENSG00000142233	ENST00000270235	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2273	0.59922	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NTN5	53859646	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.007000	0.76335	2.093000	0.63338	0.454000	0.30748	.		0.677	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1		NM_145807	Intron
TENM3	55714	hgsc.bcm.edu	37	4	183601821	183601821	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr4:183601821G>T	ENST00000511685.1	+	10	1888	c.1765G>T	c.(1765-1767)Ggt>Tgt	p.G589C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G589C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	589	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACAGTGTGGGGGTCGTGGGAT	0.512																																																	0													103.0	102.0	102.0					4																	183601821		1895	4119	6014	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1765G>T	4.37:g.183601821G>T	ENSP00000424226:p.Gly589Cys		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608372	0.87258	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34072	1.38;1.38	5.5	5.5	0.81552	Epidermal growth factor-like (1);	.	.	.	.	T	0.72503	0.3468	H	0.96269	3.795	0.80722	D	1	D	0.61697	0.99	D	0.65323	0.934	T	0.81355	-0.0970	9	0.87932	D	0	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	589	Q9P273	TEN3_HUMAN	C	589	ENSP00000424226:G589C;ENSP00000385276:G589C	ENSP00000385276:G589C	G	+	1	0	ODZ3	183838815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	GGT		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			
OR7G3	390883	hgsc.bcm.edu;ucsc.edu	37	19	9237030	9237030	+	Silent	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:9237030C>A	ENST00000305444.2	-	1	596	c.597G>T	c.(595-597)gtG>gtT	p.V199V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCACCAAATACACCAGGATGT	0.443																																																	0													72.0	72.0	72.0					19																	9237030		2203	4300	6503	SO:0001819	synonymous_variant	390883				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.597G>T	19.37:g.9237030C>A			Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																				0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			
OTUD7B	56957	hgsc.bcm.edu;ucsc.edu	37	1	149921598	149921598	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:149921598C>T	ENST00000369135.4	-	9	1351	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	353	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGATCATAGGCGAGCACCAGA	0.517																																																	0													77.0	78.0	78.0					1																	149921598		1985	4175	6160	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1057G>A	1.37:g.149921598C>T	ENSP00000358131:p.Ala353Thr		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587529	0.86851	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.31247	1.5;1.5	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.35542	1.07	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.02539	-1.1144	9	.	.	.	-11.681	17.5711	0.87934	0.0:1.0:0.0:0.0	.	353	Q6GQQ9	OTU7B_HUMAN	T	353	ENSP00000358131:A353T;ENSP00000408231:A353T	.	A	-	1	0	OTUD7B	148188222	1.000000	0.71417	0.992000	0.48379	0.835000	0.47333	7.320000	0.79064	2.633000	0.89246	0.591000	0.81541	GCC		0.517	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3		NM_020205	
OVCH2	341277	hgsc.bcm.edu;ucsc.edu	37	11	7713157	7713157	+	RNA	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr11:7713157C>T	ENST00000533663.1	-	0	201				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTTCTACATCGCTGTGCACT	0.458																																																	0													109.0	119.0	116.0					11																	7713157		1973	4151	6124			341277			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7713157C>T				Missense_Mutation	SNP	ENST00000533663.1	37		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635822	0.67130	.	.	ENSG00000183378	ENST00000454689	T	0.18338	2.22	5.09	5.09	0.68999	CUB (5);	0.000000	0.45606	D	0.000354	T	0.29652	0.0740	L	0.55481	1.735	0.26104	N	0.980777	D	0.71674	0.998	P	0.56434	0.798	T	0.06954	-1.0798	10	0.33141	T	0.24	-21.4935	14.3542	0.66724	0.0:1.0:0.0:0.0	.	495	Q7RTZ1	OVCH2_HUMAN	N	495	ENSP00000407158:D495N	ENSP00000407158:D495N	D	-	1	0	OVCH2	7669733	0.991000	0.36638	0.844000	0.33320	0.451000	0.32288	3.178000	0.50879	2.543000	0.85770	0.563000	0.77884	GAT		0.458	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1		NM_198185	
PBRM1	55193	hgsc.bcm.edu	37	3	52651528	52651528	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:52651528A>C	ENST00000296302.7	-	14	1569	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	PBRM1_ENST00000337303.4_Missense_Mutation_p.M523R|PBRM1_ENST00000394830.3_Missense_Mutation_p.M523R|PBRM1_ENST00000409767.1_Missense_Mutation_p.M538R|PBRM1_ENST00000410007.1_Missense_Mutation_p.M523R|PBRM1_ENST00000356770.4_Missense_Mutation_p.M491R|PBRM1_ENST00000409114.3_Missense_Mutation_p.M538R|PBRM1_ENST00000409057.1_Missense_Mutation_p.M523R			Q86U86	PB1_HUMAN	polybromo 1	523			M -> I (found in a case of clear cell renal carcinoma; somatic mutation). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAAGATTTTCATTCGCTGCTT	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													72.0	72.0	72.0					3																	52651528		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1568T>G	3.37:g.52651528A>C	ENSP00000296302:p.Met523Arg		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	22.2	4.264590	0.80358	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.84	5.84	0.93424	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;P;D;D	0.97110	0.998;0.985;0.984;0.998;0.984;1.0;0.837;0.997;0.997	T	0.05750	-1.0866	10	0.72032	D	0.01	-45.0812	16.2167	0.82231	1.0:0.0:0.0:0.0	.	523;523;523;523;538;538;523;491;523	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	491;523;523;523;523;523;538;538;523;482	ENSP00000349213:M491R;ENSP00000378307:M523R;ENSP00000296302:M523R;ENSP00000338302:M523R;ENSP00000386593:M523R;ENSP00000386529:M523R;ENSP00000386643:M538R;ENSP00000386601:M538R;ENSP00000387775:M523R;ENSP00000397662:M482R	ENSP00000296302:M523R	M	-	2	0	PBRM1	52626568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	ATG		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCCB	5096	hgsc.bcm.edu	37	3	136012687	136012687	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:136012687G>C	ENST00000251654.4	+	7	814	c.744G>C	c.(742-744)aaG>aaC	p.K248N	PCCB_ENST00000482086.1_Missense_Mutation_p.K132N|PCCB_ENST00000490504.1_Missense_Mutation_p.K191N|PCCB_ENST00000471595.1_Missense_Mutation_p.K248N|PCCB_ENST00000478469.1_Missense_Mutation_p.K248N|PCCB_ENST00000469217.1_Missense_Mutation_p.K268N|PCCB_ENST00000462637.1_Missense_Mutation_p.K225N|PCCB_ENST00000466072.1_Missense_Mutation_p.K248N|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000468777.1_Missense_Mutation_p.K279N|PCCB_ENST00000483687.1_Missense_Mutation_p.K229N	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	248	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GTGGTGCCAAGACCCACACCA	0.488																																																	0													149.0	141.0	144.0					3																	136012687		2203	4300	6503	SO:0001583	missense	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.744G>C	3.37:g.136012687G>C	ENSP00000251654:p.Lys248Asn		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782663	0.31502	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469	D;D;D;D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	5.02	4.14	0.48551	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.084638	0.85682	D	0.000000	D	0.94125	0.8116	L	0.56199	1.76	0.58432	D	0.999999	B;B;B;B	0.12013	0.005;0.002;0.003;0.001	B;B;B;B	0.20384	0.029;0.014;0.022;0.014	D	0.89638	0.3860	10	0.19590	T	0.45	.	8.4138	0.32659	0.2418:0.0:0.7582:0.0	.	165;268;248;248	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	N	248;191;229;279;225;248;132;248;268;248	ENSP00000251654:K248N;ENSP00000418307:K191N;ENSP00000420639:K229N;ENSP00000419129:K279N;ENSP00000420391:K225N;ENSP00000420158:K248N;ENSP00000417253:K132N;ENSP00000417549:K248N;ENSP00000419027:K268N;ENSP00000420759:K248N	ENSP00000251654:K248N	K	+	3	2	PCCB	137495377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.092000	0.41700	1.237000	0.43756	0.650000	0.86243	AAG		0.488	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			
PHF19	26147	hgsc.bcm.edu	37	9	123620470	123620470	+	Missense_Mutation	SNP	G	G	C	rs150031973	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:123620470G>C	ENST00000373896.3	-	15	1747	c.1495C>G	c.(1495-1497)Ccc>Gcc	p.P499A	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.P290A	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	499					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCGAGGGGCAGCGTCCA	0.602																																																	0													82.0	74.0	76.0					9																	123620470		2203	4300	6503	SO:0001583	missense	26147			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1495C>G	9.37:g.123620470G>C	ENSP00000363003:p.Pro499Ala		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956113	0.34471	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.47177	1.88;0.85	4.97	1.56	0.23342	.	0.564035	0.19473	N	0.113393	T	0.24353	0.0590	N	0.11560	0.145	0.27867	N	0.940169	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.13853	T	0.58	-6.9268	10.6184	0.45465	0.0:0.3572:0.5131:0.1296	.	499	Q5T6S3	PHF19_HUMAN	A	499;499;290	ENSP00000363003:P499A;ENSP00000407433:P290A	ENSP00000363003:P499A	P	-	1	0	PHF19	122660291	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.627000	0.37050	0.472000	0.27344	0.561000	0.74099	CCC		0.602	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3		XM_045308	
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110464467	110464467	+	Silent	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:110464467T>A	ENST00000378402.5	+	42	6569	c.6465T>A	c.(6463-6465)gcT>gcA	p.A2155A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2155	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGGTGGGCTCCAGTTTGTG	0.448										HNSCC(38;0.096)																																							0													120.0	114.0	116.0					8																	110464467		1941	4155	6096	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6465T>A	8.37:g.110464467T>A			Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	
PLEKHA6	22874	hgsc.bcm.edu	37	1	204242841	204242841	+	Silent	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:204242841T>C	ENST00000272203.3	-	3	331	c.15A>G	c.(13-15)acA>acG	p.T5T	PLEKHA6_ENST00000414478.1_Silent_p.T5T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	5										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTTTCCCACCTGTTTTATTGG	0.527																																																	0													147.0	133.0	138.0					1																	204242841		2203	4300	6503	SO:0001819	synonymous_variant	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.15A>G	1.37:g.204242841T>C			A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	CCDS1444.1																																																																																				0.527	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935	
POLDIP3	84271	hgsc.bcm.edu	37	22	42988071	42988071	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr22:42988071C>A	ENST00000252115.5	-	7	1015	c.911G>T	c.(910-912)gGg>gTg	p.G304V	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.G275V|POLDIP3_ENST00000451060.2_Missense_Mutation_p.G148V	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	304	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTTGAGGGCCCCACACACACA	0.557																																					Ovarian(52;967 1128 5875 19997 42537)												0													137.0	125.0	129.0					22																	42988071		2203	4300	6503	SO:0001583	missense	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.911G>T	22.37:g.42988071C>A	ENSP00000252115:p.Gly304Val		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554167	0.86231	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000451060	T;T;T	0.47177	0.85;0.85;0.85	6.08	5.06	0.68205	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048576	0.85682	D	0.000000	T	0.77315	0.4112	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84657	0.0704	10	0.87932	D	0	-11.6658	15.4398	0.75173	0.0:0.9337:0.0:0.0663	.	321;300;275;304	B4E0L0;Q96DI9;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	V	275;304;148	ENSP00000252116:G275V;ENSP00000252115:G304V;ENSP00000397927:G148V	ENSP00000252115:G304V	G	-	2	0	POLDIP3	41318015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.398000	0.79919	1.591000	0.50007	-0.140000	0.14226	GGG		0.557	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1		NM_032311	
PRAMEF7	441871	hgsc.bcm.edu	37	1	12980127	12980127	+	Missense_Mutation	SNP	C	C	T	rs1832597	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:12980127C>T	ENST00000361079.2	+	4	1402	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	440					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGACACCGAGGGACTTA	0.592																																																	0													128.0	125.0	126.0					1																	12980127		1875	3788	5663	SO:0001583	missense	441871				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1319C>T	1.37:g.12980127C>T	ENSP00000354371:p.Pro440Leu		B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	249	0.11401098901098901	59	0.11991869918699187	36	0.09944751381215469	45	0.07867132867132867	109	0.1437994722955145	.	0.011	-1.699667	0.00725	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.42513	0.97;0.97	1.68	0.406	0.16366	.	0.340702	0.23365	N	0.048961	T	0.00039	0.0001	N	0.00050	-2.405	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.19943	-1.0290	9	0.02654	T	1	.	1.6667	0.02803	0.2892:0.1932:0.0:0.5176	.	440	Q5VXH5	PRAM7_HUMAN	L	440	ENSP00000354371:P440L;ENSP00000328915:P440L	ENSP00000328915:P440L	P	+	2	0	PRAMEF7	12902714	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.019000	0.13444	-0.295000	0.08960	-0.848000	0.03037	CCG		0.592	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001012277	
PXDNL	137902	hgsc.bcm.edu;ucsc.edu	37	8	52320891	52320891	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:52320891T>A	ENST00000356297.4	-	17	3393	c.3293A>T	c.(3292-3294)gAc>gTc	p.D1098V	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1098V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1098					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGAACCGGGTCTATCCCACC	0.552																																																	0													54.0	57.0	56.0					8																	52320891		1875	4095	5970	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3293A>T	8.37:g.52320891T>A	ENSP00000348645:p.Asp1098Val		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.69|11.69	1.714847|1.714847	0.30413|0.30413	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.77489|.	-1.1;-1.1|.	3.82|3.82	2.57|2.57	0.30868|0.30868	.|.	0.111433|.	0.39020|.	N|.	0.001490|.	T|T	0.81163|0.81163	0.4765|0.4765	H|H	0.96518|0.96518	3.835|3.835	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.80372|0.80372	-0.1410|-0.1410	10|5	0.87932|.	D|.	0|.	.|.	7.2987|7.2987	0.26408|0.26408	0.1974:0.0:0.0:0.8026|0.1974:0.0:0.0:0.8026	.|.	1098|.	A1KZ92|.	PXDNL_HUMAN|.	V|S	1098|217	ENSP00000348645:D1098V;ENSP00000444865:D1098V|.	ENSP00000348645:D1098V|.	D|T	-|-	2|1	0|0	PXDNL|PXDNL	52483444|52483444	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	6.893000|6.893000	0.75649|0.75649	0.296000|0.296000	0.22592|0.22592	0.533000|0.533000	0.62120|0.62120	GAC|ACC		0.552	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651	
RNF17	56163	hgsc.bcm.edu	37	13	25367296	25367296	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr13:25367296C>G	ENST00000255324.5	+	10	1104	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	RNF17_ENST00000255325.6_Missense_Mutation_p.S351C|RNF17_ENST00000381921.1_Missense_Mutation_p.S351C|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	351					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTTGACATGTCTGTCCTAACC	0.373																																																	0													189.0	176.0	180.0					13																	25367296		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1052C>G	13.37:g.25367296C>G	ENSP00000255324:p.Ser351Cys		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	6.821	0.520569	0.13005	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.19938	3.37;3.38;2.11	5.03	4.18	0.49190	.	2.311560	0.01412	N	0.014047	T	0.32971	0.0847	N	0.24115	0.695	0.09310	N	1	P;P;D	0.69078	0.923;0.923;0.997	B;B;P	0.60236	0.436;0.338;0.871	T	0.32295	-0.9912	10	0.72032	D	0.01	-0.9547	9.6363	0.39809	0.0:0.9045:0.0:0.0955	.	351;351;351	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	C	351;351;210;352;351	ENSP00000255324:S351C;ENSP00000371346:S351C;ENSP00000255325:S352C	ENSP00000255324:S351C	S	+	2	0	RNF17	24265296	0.009000	0.17119	0.010000	0.14722	0.143000	0.21401	0.693000	0.25497	1.334000	0.45468	0.650000	0.86243	TCT		0.373	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1		NM_031994	
SAA1	6288	hgsc.bcm.edu;ucsc.edu	37	11	18291358	18291358	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr11:18291358G>C	ENST00000405158.2	+	4	509	c.325G>C	c.(325-327)Gac>Cac	p.D109H	SAA1_ENST00000356524.4_Missense_Mutation_p.D109H|SAA1_ENST00000532858.1_Missense_Mutation_p.D109H	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	109					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAGTGGCAAAGACCCCAATCA	0.562																																																	0													119.0	103.0	109.0					11																	18291358		2199	4293	6492	SO:0001583	missense	6288			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.325G>C	11.37:g.18291358G>C	ENSP00000384906:p.Asp109His		P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612138	0.46631	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.14022	2.54;2.54;2.54	3.55	1.59	0.23543	.	0.061103	0.64402	D	0.000007	T	0.36635	0.0974	M	0.89353	3.025	0.34172	D	0.66988	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.48758	-0.9007	10	0.54805	T	0.06	.	6.7477	0.23470	0.1047:0.1795:0.7157:0.0	.	109;109	D3DQX7;P02735	.;SAA_HUMAN	H	109	ENSP00000348918:D109H;ENSP00000436866:D109H;ENSP00000384906:D109H	ENSP00000348918:D109H	D	+	1	0	SAA1	18247934	1.000000	0.71417	0.473000	0.27253	0.151000	0.21798	4.477000	0.60223	0.453000	0.26858	-0.304000	0.09214	GAC		0.562	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1		NM_199161	
RPUSD4	84881	hgsc.bcm.edu	37	11	126080885	126080885	+	Silent	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr11:126080885T>A	ENST00000298317.4	-	2	308	c.255A>T	c.(253-255)cgA>cgT	p.R85R	RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.R85R|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000533050.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	85					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TGGGGTGGACTCGCTGCAGCT	0.562																																																	0													160.0	147.0	152.0					11																	126080885		2201	4299	6500	SO:0001819	synonymous_variant	84881			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.255A>T	11.37:g.126080885T>A			E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	CCDS8469.1																																																																																				0.562	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1		NM_032795	
SAMD12	401474	hgsc.bcm.edu;ucsc.edu	37	8	119452167	119452167	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr8:119452167G>C	ENST00000314727.4	-	3	362	c.226C>G	c.(226-228)Cta>Gta	p.L76V	SAMD12_ENST00000409003.4_Missense_Mutation_p.L76V	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	76										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TGGGTCCATAGAGCCACCGGT	0.428																																																	0													147.0	128.0	135.0					8																	119452167		2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.226C>G	8.37:g.119452167G>C	ENSP00000314173:p.Leu76Val		Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.27|18.27	3.586581|3.586581	0.66105|0.66105	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000453675	D;D;D;D|.	0.84298|.	-1.83;-1.83;-1.83;-1.83|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.080328|.	0.51477|.	D|.	0.000095|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.54323|0.54323	1.7|1.7	0.40924|0.40924	D|D	0.984331|0.984331	P;D|.	0.76494|.	0.942;0.999|.	P;D|.	0.72338|.	0.64;0.977|.	T|T	0.60326|0.60326	-0.7285|-0.7285	9|5	.|.	.|.	.|.	-10.0957|-10.0957	9.9465|9.9465	0.41611|0.41611	0.1557:0.0:0.8443:0.0|0.1557:0.0:0.8443:0.0	.|.	76;76|.	B8ZZB7;Q8N8I0|.	.;SAM12_HUMAN|.	V|C	76;68;76;76|72	ENSP00000387133:L76V;ENSP00000435927:L68V;ENSP00000314173:L76V;ENSP00000431360:L76V|.	.|.	L|S	-|-	1|2	2|0	SAMD12|SAMD12	119521348|119521348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.453000|5.453000	0.66645|0.66645	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	CTA|TCT		0.428	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3		NM_207506	
SDC1	6382	hgsc.bcm.edu;ucsc.edu	37	2	20402566	20402566	+	Silent	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:20402566G>C	ENST00000254351.4	-	5	1138	c.894C>G	c.(892-894)gcC>gcG	p.A298A	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000381150.1_Silent_p.A298A	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	298					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTTCTGGTAGGCCCCGCCGT	0.597																																																	0													108.0	109.0	109.0					2																	20402566		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.894C>G	2.37:g.20402566G>C			D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	CCDS1697.1																																																																																				0.597	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1		NM_001006946	
SF3B3	23450	hgsc.bcm.edu;ucsc.edu	37	16	70605091	70605091	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:70605091T>A	ENST00000302516.5	+	25	3713	c.3502T>A	c.(3502-3504)Ttc>Atc	p.F1168I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1168					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCCTACTACTTCCCTGTGAA	0.552																																																	0													99.0	87.0	91.0					16																	70605091		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3502T>A	16.37:g.70605091T>A	ENSP00000305790:p.Phe1168Ile		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202102	0.58234	.	.	ENSG00000189091	ENST00000302516	T	0.41400	1.0	5.78	5.78	0.91487	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.056318	0.64402	D	0.000001	T	0.46444	0.1393	M	0.68728	2.09	0.80722	D	1	B	0.30146	0.27	B	0.35931	0.214	T	0.36480	-0.9746	10	0.22109	T	0.4	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	1168	Q15393	SF3B3_HUMAN	I	1168	ENSP00000305790:F1168I	ENSP00000305790:F1168I	F	+	1	0	SF3B3	69162592	1.000000	0.71417	0.992000	0.48379	0.838000	0.47535	7.961000	0.87903	2.200000	0.70718	0.460000	0.39030	TTC		0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426	
SHISA7	729956	hgsc.bcm.edu;ucsc.edu	37	19	55949028	55949028	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:55949028G>T	ENST00000376325.4	-	3	919	c.920C>A	c.(919-921)tCc>tAc	p.S307Y		NM_001145176.1	NP_001138648.1	A6NL88	SHSA7_HUMAN	shisa family member 7	307						integral component of membrane (GO:0016021)				skin(1)	1						AGCCTCGTAGGACGGGGGCAG	0.662																																																	0													39.0	48.0	45.0					19																	55949028		692	1591	2283	SO:0001583	missense	729956				CCDS46193.1	19q13.42	2013-07-31	2013-07-31					"""Shisa homologs"""	35409	protein-coding gene	gene with protein product			"""shisa homolog 7 (Xenopus laevis)"""				Standard	NM_001145176		Approved		uc002qkz.3	A6NL88		ENST00000376325.4:c.920C>A	19.37:g.55949028G>T	ENSP00000365503:p.Ser307Tyr			Missense_Mutation	SNP	ENST00000376325.4	37	CCDS46193.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380705	0.82792	.	.	ENSG00000187902	ENST00000376325;ENST00000432840	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.76076	0.3937	M	0.65975	2.015	0.58432	D	0.999995	D	0.76494	0.999	D	0.79784	0.993	T	0.79662	-0.1710	9	0.87932	D	0	.	14.2711	0.66152	0.0:0.0:1.0:0.0	.	307	A6NL88	SHSA7_HUMAN	Y	307;154	.	ENSP00000365503:S307Y	S	-	2	0	SHISA7	60640840	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	8.129000	0.89597	2.148000	0.66965	0.424000	0.28305	TCC		0.662	SHISA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334533.2		NM_001145176	
SI	6476	hgsc.bcm.edu	37	3	164776805	164776805	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:164776805G>T	ENST00000264382.3	-	12	1406	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	448	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATGTTGTGTGTTTCCCCTCT	0.353										HNSCC(35;0.089)																																							0													112.0	100.0	104.0					3																	164776805		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1344C>A	3.37:g.164776805G>T	ENSP00000264382:p.Asn448Lys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.125343	0.01770	.	.	ENSG00000090402	ENST00000264382	D	0.92299	-3.01	5.57	1.42	0.22433	Glycoside hydrolase, superfamily (1);	0.811303	0.11769	N	0.531288	T	0.76695	0.4023	N	0.11427	0.14	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.63739	-0.6569	10	0.05959	T	0.93	.	1.3569	0.02184	0.5256:0.1102:0.1678:0.1964	.	448	P14410	SUIS_HUMAN	K	448	ENSP00000264382:N448K	ENSP00000264382:N448K	N	-	3	2	SI	166259499	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.244000	0.18124	0.400000	0.25396	-0.300000	0.09419	AAC		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041	
SLC16A14	151473	hgsc.bcm.edu	37	2	230911157	230911157	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:230911157G>C	ENST00000295190.4	-	4	1143	c.685C>G	c.(685-687)Ctg>Gtg	p.L229V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGCGCTGGCAGGCCACGCACA	0.567																																																	0													71.0	77.0	75.0					2																	230911157		2203	4300	6503	SO:0001583	missense	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.685C>G	2.37:g.230911157G>C	ENSP00000295190:p.Leu229Val		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.605423	0.00123	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.08634	3.07;3.08;3.09	4.84	1.98	0.26296	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.634660	0.00935	N	0.002761	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.18871	0.008;0.023	T	0.34625	-0.9821	10	0.24483	T	0.36	.	4.594	0.12320	0.0731:0.1341:0.5155:0.2773	.	229;229	E7EMG7;Q7RTX9	.;MOT14_HUMAN	V	229	ENSP00000295190:L229V;ENSP00000400352:L229V;ENSP00000395775:L229V	ENSP00000295190:L229V	L	-	1	2	SLC16A14	230619401	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	0.218000	0.20820	-0.126000	0.14955	CTG		0.567	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2		NM_152527	
SLC39A12	221074	hgsc.bcm.edu	37	10	18280180	18280180	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:18280180G>A	ENST00000377369.2	+	8	1643	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G323E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G457E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G457E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	457					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCATCCATGGATTTTTCTTG	0.328																																																	0													92.0	99.0	96.0					10																	18280180		2203	4300	6503	SO:0001583	missense	221074				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1370G>A	10.37:g.18280180G>A	ENSP00000366586:p.Gly457Glu		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304167	0.81136	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.92	5.92	0.95590	.	0.049668	0.85682	D	0.000000	T	0.70245	0.3202	M	0.76328	2.33	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.81914	0.995;0.971;0.993	T	0.65656	-0.6115	10	0.35671	T	0.21	-17.1745	20.3248	0.98698	0.0:0.0:1.0:0.0	.	457;457;457	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	E	457;457;457;323;377	ENSP00000366586:G457E;ENSP00000366591:G457E;ENSP00000366588:G457E;ENSP00000440445:G323E	ENSP00000366586:G457E	G	+	2	0	SLC39A12	18320186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.731000	0.62022	2.818000	0.97014	0.655000	0.94253	GGA		0.328	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725	
SLC4A2	6522	hgsc.bcm.edu	37	7	150769065	150769065	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:150769065C>T	ENST00000485713.1	+	16	3417	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R779C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R711C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R793C|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R784C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	793	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.R793C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGTGGGCCGTGTGTGGAT	0.642																																																	1	Substitution - Missense(1)	prostate(1)											146.0	140.0	142.0					7																	150769065		2203	4300	6503	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2377C>T	7.37:g.150769065C>T	ENSP00000419412:p.Arg793Cys		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380045	0.82682	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	4.99	4.99	0.66335	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96997	0.9726	10	0.87932	D	0	.	15.8342	0.78787	0.0:1.0:0.0:0.0	.	784;779;793	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	793;793;711;784;779	ENSP00000419412:R793C;ENSP00000405600:R793C;ENSP00000311402:R711C;ENSP00000376571:R784C;ENSP00000419164:R779C	ENSP00000311402:R711C	R	+	1	0	SLC4A2	150399998	0.614000	0.27017	0.998000	0.56505	0.946000	0.59487	1.130000	0.31393	2.593000	0.87608	0.655000	0.94253	CGT		0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1		NM_003040	
SLC6A8	6535	hgsc.bcm.edu	37	X	152957540	152957540	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:152957540A>G	ENST00000253122.5	+	4	1231	c.755A>G	c.(754-756)aAg>aGg	p.K252R	SLC6A8_ENST00000430077.2_Missense_Mutation_p.K137R	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	252					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGTGTCTGGAAGGGGGTCAAA	0.627																																																	0													58.0	39.0	45.0					X																	152957540		2201	4300	6501	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.755A>G	X.37:g.152957540A>G	ENSP00000253122:p.Lys252Arg		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	24.0	4.483372	0.84854	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.79653	-1.29;-1.29	4.09	4.09	0.47781	.	.	.	.	.	D	0.83376	0.5241	M	0.64567	1.98	0.58432	D	0.999999	P;P;B	0.46327	0.471;0.876;0.388	P;P;B	0.52554	0.51;0.702;0.439	D	0.84935	0.0862	9	0.87932	D	0	.	11.3446	0.49552	1.0:0.0:0.0:0.0	.	252;271;252	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	R	252;137	ENSP00000253122:K252R;ENSP00000403041:K137R	ENSP00000253122:K252R	K	+	2	0	SLC6A8	152610734	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.076000	0.94009	1.511000	0.48818	0.430000	0.28490	AAG		0.627	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			
SMC6	79677	hgsc.bcm.edu;ucsc.edu	37	2	17877627	17877627	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr2:17877627T>G	ENST00000448223.2	-	22	2730	c.2461A>C	c.(2461-2463)Aaa>Caa	p.K821Q	SMC6_ENST00000381272.4_Missense_Mutation_p.K847Q|SMC6_ENST00000351948.4_Missense_Mutation_p.K821Q|SMC6_ENST00000402989.1_Missense_Mutation_p.K821Q	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	821					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTTTTGTTTTTCTTCATAA	0.308																																																	0													158.0	149.0	152.0					2																	17877627		2202	4300	6502	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2461A>C	2.37:g.17877627T>G	ENSP00000404092:p.Lys821Gln		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145353	0.77888	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	5.27	5.27	0.74061	RecF/RecN/SMC (1);	0.093521	0.64402	D	0.000001	T	0.10809	0.0264	L	0.39245	1.2	0.40262	D	0.97818	P;P	0.49358	0.907;0.923	P;P	0.51415	0.607;0.669	T	0.35051	-0.9804	10	0.16420	T	0.52	.	15.1645	0.72811	0.0:0.0:0.0:1.0	.	847;821	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	Q	821;821;847;821	ENSP00000404092:K821Q;ENSP00000323439:K821Q;ENSP00000370672:K847Q;ENSP00000384539:K821Q	ENSP00000323439:K821Q	K	-	1	0	SMC6	17741108	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	4.952000	0.63618	2.135000	0.66039	0.482000	0.46254	AAA		0.308	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1		NM_024624	
SPTLC1	10558	hgsc.bcm.edu	37	9	94843154	94843154	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:94843154T>C	ENST00000262554.2	-	4	357	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.K118E	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	118					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CTACTCACCTTAACCCTAGGG	0.413																																																	0													107.0	90.0	96.0					9																	94843154		2203	4300	6503	SO:0001583	missense	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.352A>G	9.37:g.94843154T>C	ENSP00000262554:p.Lys118Glu		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	T	7.912	0.736718	0.15574	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95171	-2.64;-3.63	5.0	5.0	0.66597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	N	0.16833	0.445	0.80722	D	1	B;B;B;B	0.20261	0.009;0.043;0.002;0.027	B;B;B;B	0.28011	0.085;0.042;0.01;0.085	T	0.82575	-0.0389	10	0.05721	T	0.95	-25.5988	14.8244	0.70101	0.0:0.0:0.0:1.0	.	118;118;113;118	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	E	118	ENSP00000262554:K118E;ENSP00000337635:K118E	ENSP00000262554:K118E	K	-	1	0	SPTLC1	93882975	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.806000	0.69150	2.227000	0.72691	0.455000	0.32223	AAG		0.413	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1		NM_006415	
SRRM1	10250	hgsc.bcm.edu	37	1	24995884	24995884	+	Silent	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:24995884C>G	ENST00000323848.9	+	14	2325	c.2010C>G	c.(2008-2010)acC>acG	p.T670T	SRRM1_ENST00000447431.2_Silent_p.T682T|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.T679T	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	670	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCCGCTCTACCCGGGAGGCCC	0.562																																					Ovarian(68;897 1494 3282 17478)												0													62.0	61.0	61.0					1																	24995884		2203	4300	6503	SO:0001819	synonymous_variant	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2010C>G	1.37:g.24995884C>G			O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																				0.562	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2		NM_005839	
SYNJ2	8871	hgsc.bcm.edu	37	6	158499241	158499241	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:158499241A>C	ENST00000355585.4	+	18	2570	c.2495A>C	c.(2494-2496)aAa>aCa	p.K832T	SYNJ2_ENST00000367121.3_Missense_Mutation_p.K832T|SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367122.2_Missense_Mutation_p.K832T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	832					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTTGACACCAAAGTCAGACAC	0.502																																																	0													181.0	158.0	166.0					6																	158499241		2203	4300	6503	SO:0001583	missense	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2495A>C	6.37:g.158499241A>C	ENSP00000347792:p.Lys832Thr		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	6.420	0.445538	0.12164	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.94687	-3.21;-3.49;-3.25	5.45	-1.59	0.08453	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.937138	0.08969	N	0.867556	D	0.85296	0.5664	M	0.65975	2.015	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.18871	0.023;0.008	T	0.74551	-0.3628	10	0.42905	T	0.14	.	5.6969	0.17861	0.5395:0.2555:0.205:0.0	.	832;832	O15056;O15056-3	SYNJ2_HUMAN;.	T	832	ENSP00000356089:K832T;ENSP00000356088:K832T;ENSP00000347792:K832T	ENSP00000347792:K832T	K	+	2	0	SYNJ2	158419229	0.000000	0.05858	0.003000	0.11579	0.102000	0.19082	0.292000	0.19011	-0.526000	0.06383	-0.250000	0.11733	AAA		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			
SYTL3	94120	hgsc.bcm.edu	37	6	159166676	159166676	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:159166676G>T	ENST00000297239.9	+	11	1214	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SYTL3_ENST00000367081.3_Missense_Mutation_p.K66N|SYTL3_ENST00000360448.3_Missense_Mutation_p.K272N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	340	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AAGAAAAGAAGAAAAAGTGCA	0.313																																																	0													61.0	59.0	60.0					6																	159166676		2203	4300	6503	SO:0001583	missense	94120			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1020G>T	6.37:g.159166676G>T	ENSP00000297239:p.Lys340Asn		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405492	0.62288	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.68479	-0.33;-0.33;-0.33	5.51	2.74	0.32292	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.247406	0.38217	N	0.001770	T	0.59473	0.2196	L	0.47016	1.485	0.49051	D	0.999745	D;P;P	0.62365	0.991;0.666;0.803	P;B;P	0.60286	0.872;0.274;0.452	T	0.58797	-0.7573	10	0.37606	T	0.19	.	9.5735	0.39442	0.227:0.0:0.773:0.0	.	66;340;272	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	N	272;340;340;66	ENSP00000353631:K272N;ENSP00000297239:K340N;ENSP00000356048:K66N	ENSP00000297239:K340N	K	+	3	2	SYTL3	159086664	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	3.136000	0.50554	0.688000	0.31529	0.655000	0.94253	AAG		0.313	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			
TDRD6	221400	hgsc.bcm.edu	37	6	46656689	46656689	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:46656689A>C	ENST00000316081.6	+	1	824	c.824A>C	c.(823-825)gAg>gCg	p.E275A	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E275A|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	275					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCTCGCAGGAGATCCACCGC	0.637																																																	0													31.0	29.0	30.0					6																	46656689		2202	4300	6502	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.824A>C	6.37:g.46656689A>C	ENSP00000346065:p.Glu275Ala		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544486	0.65198	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.08984	3.03;3.03	6.07	6.07	0.98685	Maternal tudor protein (1);	0.047416	0.85682	D	0.000000	T	0.13114	0.0318	L	0.38175	1.15	0.41794	D	0.989888	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05053	-1.0909	10	0.41790	T	0.15	-6.4796	16.3023	0.82830	1.0:0.0:0.0:0.0	.	275;275	F5H5M3;O60522	.;TDRD6_HUMAN	A	275	ENSP00000443299:E275A;ENSP00000346065:E275A	ENSP00000346065:E275A	E	+	2	0	TDRD6	46764648	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.417000	0.90247	2.326000	0.78906	0.533000	0.62120	GAG		0.637	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443	
TCP10	6953	hgsc.bcm.edu	37	6	167791530	167791530	+	Missense_Mutation	SNP	G	G	C	rs17855837	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr6:167791530G>C	ENST00000397829.4	-	4	497	c.330C>G	c.(328-330)gaC>gaG	p.D110E	TCP10_ENST00000366827.2_Missense_Mutation_p.D110E	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	137						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGGGCGTTGTGTCTTCATCAG	0.448													c|||	2911	0.58127	0.8343	0.4049	5008	,	,		12661	0.4821		0.4612	False		,,,				2504	0.59																0													35.0	73.0	60.0					6																	167791530		2165	4271	6436	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.330C>G	6.37:g.167791530G>C	ENSP00000380929:p.Asp110Glu		Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	929	0.42536630036630035	277	0.5630081300813008	121	0.3342541436464088	232	0.40559440559440557	299	0.3944591029023747	C	0.005	-2.201231	0.00296	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.29917	1.92;1.96;1.55	1.4	-1.83	0.07833	.	.	.	.	.	T	0.01124	0.0037	N	0.00308	-1.67	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26883	-1.0090	8	0.02654	T	1	.	3.3528	0.07158	0.0:0.2983:0.219:0.4827	rs17855837	110;137;137	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	E	110;110;106	ENSP00000355792:D110E;ENSP00000380929:D110E;ENSP00000426065:D106E	ENSP00000355792:D110E	D	-	3	2	TCP10	167711520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.989000	0.00658	-1.300000	0.02341	-0.647000	0.03941	GAC		0.448	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1		NM_004610	
TET2	54790	hgsc.bcm.edu;ucsc.edu	37	4	106156048	106156048	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr4:106156048C>A	ENST00000540549.1	+	3	1809	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	TET2_ENST00000305737.2_Missense_Mutation_p.Q317K|TET2_ENST00000413648.2_Missense_Mutation_p.Q317K|TET2_ENST00000380013.4_Missense_Mutation_p.Q317K|TET2_ENST00000513237.1_Missense_Mutation_p.Q338K|TET2_ENST00000394764.1_Missense_Mutation_p.Q317K|TET2_ENST00000545826.1_Missense_Mutation_p.Q317K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	317					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q317*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTGTTCCTTTCAGAAACCAGA	0.453			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											85.0	82.0	83.0					4																	106156048		2203	4300	6503	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.949C>A	4.37:g.106156048C>A	ENSP00000442788:p.Gln317Lys		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099435	0.37048	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.08546	3.08;4.05;3.08;4.04;4.05;3.08;3.13	4.98	4.98	0.66077	.	2.910710	0.02505	U	0.090939	T	0.12732	0.0309	L	0.29908	0.895	0.25368	N	0.988726	P;P;P	0.44139	0.455;0.455;0.827	B;B;B	0.44133	0.135;0.135;0.442	T	0.38200	-0.9672	10	0.87932	D	0	.	12.3828	0.55315	0.168:0.832:0.0:0.0	.	338;317;317	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	K	317;317;317;338;317;317;317;317	ENSP00000306705:Q317K;ENSP00000442788:Q317K;ENSP00000442867:Q317K;ENSP00000425443:Q338K;ENSP00000369351:Q317K;ENSP00000378245:Q317K;ENSP00000391448:Q317K	ENSP00000265149:Q317K	Q	+	1	0	TET2	106375497	1.000000	0.71417	0.963000	0.40424	0.240000	0.25518	2.309000	0.43699	2.325000	0.78763	0.655000	0.94253	CAG		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628	
TOB2	10766	hgsc.bcm.edu	37	22	41832415	41832415	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr22:41832415A>T	ENST00000327492.3	-	2	1641	c.935T>A	c.(934-936)cTc>cAc	p.L312H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	312				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971). {ECO:0000305}.	female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCCAGGAAGAGGCTGTTGGC	0.607																																																	0													82.0	79.0	80.0					22																	41832415		2203	4300	6503	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.935T>A	22.37:g.41832415A>T	ENSP00000331305:p.Leu312His		Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494393	0.64186	.	.	ENSG00000183864	ENST00000327492	T	0.46063	0.88	6.17	6.17	0.99709	.	0.213898	0.40818	N	0.001002	T	0.48786	0.1519	L	0.47716	1.5	0.36066	D	0.841793	D	0.56035	0.974	P	0.51355	0.667	T	0.53892	-0.8374	10	0.31617	T	0.26	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	312	Q14106	TOB2_HUMAN	H	312	ENSP00000331305:L312H	ENSP00000331305:L312H	L	-	2	0	TOB2	40162361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.371000	0.80710	0.533000	0.62120	CTC		0.607	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1		NM_016272	
TPSB2	64499	hgsc.bcm.edu	37	16	1278744	1278744	+	RNA	SNP	C	C	T	rs62012862	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:1278744C>T	ENST00000339687.6	-	0	757				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				ACAGCCCTCGCCCCAGCTGAC	0.652																																																	0													29.0	30.0	29.0					16																	1278744		2170	4273	6443			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278744C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		778	0.35622710622710624	144	0.2926829268292683	103	0.2845303867403315	270	0.47202797202797203	261	0.34432717678100266	C	8.160	0.789294	0.16258	.	.	ENSG00000197253	ENST00000430512	D	0.86432	-2.12	3.8	1.75	0.24633	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.691412	0.12501	N	0.463392	T	0.00012	0.0000	.	.	.	0.37969	P	0.06676899999999997	B	0.29378	0.243	B	0.30105	0.111	T	0.18429	-1.0337	8	0.59425	D	0.04	.	9.6078	0.39643	0.0:0.7626:0.1442:0.0932	rs62012862	245	P20231	TRYB2_HUMAN	D	244	ENSP00000412409:G244D	ENSP00000412409:G244D	G	-	2	0	TPSB2	1218745	0.438000	0.25602	0.145000	0.22337	0.061000	0.15899	1.805000	0.38883	-0.052000	0.13311	-1.134000	0.01955	GGC		0.652	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1		NM_024164	
NME8	51314	hgsc.bcm.edu;ucsc.edu	37	7	37903001	37903001	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:37903001C>T	ENST00000199447.4	+	8	763	c.391C>T	c.(391-393)Cct>Tct	p.P131S	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P131S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	131					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTCATAGTATCCTGAAATTCC	0.294																																																	0													101.0	105.0	104.0					7																	37903001		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.391C>T	7.37:g.37903001C>T	ENSP00000199447:p.Pro131Ser		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.459354	0.01062	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.35236	1.32;1.32	3.95	-1.71	0.08133	.	1.889970	0.02547	N	0.095237	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.17531	-1.0366	10	0.09843	T	0.71	-0.9595	7.5174	0.27608	0.5687:0.2785:0.1528:0.0	.	131	Q8N427	TXND3_HUMAN	S	131;76;76;131	ENSP00000199447:P131S;ENSP00000397063:P131S	ENSP00000199447:P131S	P	+	1	0	TXNDC3	37869526	0.001000	0.12720	0.114000	0.21550	0.047000	0.14425	-1.270000	0.02831	-0.349000	0.08274	-0.282000	0.10007	CCT		0.294	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1		NM_016616	
UQCRC2	7385	hgsc.bcm.edu	37	16	21974117	21974117	+	Missense_Mutation	SNP	C	C	T	rs139500759		TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr16:21974117C>T	ENST00000268379.4	+	6	1189	c.425C>T	c.(424-426)aCa>aTa	p.T142I	UQCRC2_ENST00000561553.1_Missense_Mutation_p.T142I	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	142					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATGTCACCACAGCACCAGAA	0.413																																					Colon(123;450 1645 12841 25393 45623)												0								C	ILE/THR	1,4395	2.1+/-5.4	0,1,2197	133.0	121.0	125.0		425	4.9	1.0	16	dbSNP_134	125	0,8600		0,0,4300	no	missense	UQCRC2	NM_003366.2	89	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	142/454	21974117	1,12995	2198	4300	6498	SO:0001583	missense	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.425C>T	16.37:g.21974117C>T	ENSP00000268379:p.Thr142Ile		B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526071	0.64860	2.27E-4	0.0	ENSG00000140740	ENST00000268379	T	0.16457	2.34	4.88	4.88	0.63580	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.85859	2.78	0.80722	D	1	B	0.22746	0.074	B	0.29524	0.103	T	0.18871	-1.0323	10	0.54805	T	0.06	-11.1939	16.9872	0.86342	0.0:1.0:0.0:0.0	.	142	P22695	QCR2_HUMAN	I	142	ENSP00000268379:T142I	ENSP00000268379:T142I	T	+	2	0	UQCRC2	21881618	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.374000	0.79633	2.411000	0.81874	0.563000	0.77884	ACA		0.413	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1		NM_003366	
USP11	8237	hgsc.bcm.edu	37	X	47100845	47100845	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chrX:47100845T>A	ENST00000218348.3	+	8	1145	c.1145T>A	c.(1144-1146)tTc>tAc	p.F382Y	USP11_ENST00000377107.2_Missense_Mutation_p.F339Y	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	382	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCACATGTGTTCAAGGTGTGA	0.587																																																	0													111.0	82.0	92.0					X																	47100845		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1145T>A	X.37:g.47100845T>A	ENSP00000218348:p.Phe382Tyr		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420742	0.83559	.	.	ENSG00000102226	ENST00000377107;ENST00000218348;ENST00000377078	T;T;T	0.37411	1.2;1.2;1.2	5.11	5.11	0.69529	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	M	0.89214	3.015	0.54753	D	0.999985	B;D	0.67145	0.1;0.996	P;D	0.63957	0.685;0.92	T	0.70934	-0.4737	10	0.72032	D	0.01	-20.4083	12.9578	0.58441	0.0:0.0:0.0:1.0	.	109;382	B3KP28;P51784	.;UBP11_HUMAN	Y	339;382;109	ENSP00000366311:F339Y;ENSP00000218348:F382Y;ENSP00000366279:F109Y	ENSP00000218348:F382Y	F	+	2	0	USP11	46985789	1.000000	0.71417	0.997000	0.53966	0.710000	0.40934	7.967000	0.87967	1.700000	0.51204	0.486000	0.48141	TTC		0.587	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_004651	
USP21	27005	hgsc.bcm.edu;ucsc.edu	37	1	161134659	161134660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:161134659_161134660insA	ENST00000289865.8	+	11	1640_1641	c.1419_1420insA	c.(1420-1422)aaafs	p.K474fs	PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368002.3_Frame_Shift_Ins_p.K474fs|USP21_ENST00000368001.1_Frame_Shift_Ins_p.K474fs|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000535223.1_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000352210.5_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	474	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTTC	0.515																																																	0																																										SO:0001589	frameshift_variant	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1426dupA	1.37:g.161134666_161134666dupA	ENSP00000289865:p.Lys474fs		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Frame_Shift_Ins	INS	ENST00000289865.8	37	CCDS30920.1																																																																																				0.515	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			
ZFYVE26	23503	hgsc.bcm.edu	37	14	68229089	68229089	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr14:68229089T>C	ENST00000347230.4	-	34	6338	c.6200A>G	c.(6199-6201)cAt>cGt	p.H2067R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H2067R|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2067					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCCCAAGCATGCCACGCCCC	0.542																																																	0													68.0	57.0	61.0					14																	68229089		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6200A>G	14.37:g.68229089T>C	ENSP00000251119:p.His2067Arg		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922746	0.52653	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26957	1.84;1.7	5.65	5.65	0.86999	.	0.055763	0.64402	D	0.000001	T	0.30759	0.0775	L	0.29908	0.895	0.40492	D	0.980557	D;P	0.56287	0.975;0.915	P;P	0.54060	0.741;0.471	T	0.03335	-1.1047	10	0.22706	T	0.39	-14.585	15.8848	0.79238	0.0:0.0:0.0:1.0	.	2067;2067	G3V2D8;Q68DK2	.;ZFY26_HUMAN	R	2067;2046;2067	ENSP00000251119:H2067R;ENSP00000450603:H2067R	ENSP00000251119:H2067R	H	-	2	0	ZFYVE26	67298842	1.000000	0.71417	0.976000	0.42696	0.724000	0.41520	6.289000	0.72696	2.156000	0.67533	0.533000	0.62120	CAT		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346	
ZNF488	118738	hgsc.bcm.edu;ucsc.edu	37	10	48371284	48371284	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr10:48371284C>T	ENST00000395702.2	+	2	979	c.752C>T	c.(751-753)cCc>cTc	p.P251L	ZNF488_ENST00000586537.1_Missense_Mutation_p.P144L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	251					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GTGCCCCCACCCTCATCATCC	0.592																																																	0													93.0	83.0	86.0					10																	48371284		2203	4300	6503	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.752C>T	10.37:g.48371284C>T	ENSP00000379054:p.Pro251Leu		Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770232	0.49680	.	.	ENSG00000165388	ENST00000395702	T	0.22539	1.95	4.97	4.97	0.65823	.	2.183520	0.02114	N	0.055021	T	0.36468	0.0968	L	0.47716	1.5	0.09310	N	0.999999	D	0.59767	0.986	P	0.51582	0.674	T	0.52449	-0.8574	10	0.20519	T	0.43	.	17.5931	0.88003	0.0:1.0:0.0:0.0	.	251	Q96MN9	ZN488_HUMAN	L	251	ENSP00000379054:P251L	ENSP00000379054:P251L	P	+	2	0	ZNF488	47991290	0.093000	0.21703	0.006000	0.13384	0.014000	0.08584	2.718000	0.47236	2.466000	0.83321	0.655000	0.94253	CCC		0.592	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1		NM_153034	
ZNF587	84914	hgsc.bcm.edu	37	19	58370298	58370298	+	Missense_Mutation	SNP	G	G	A	rs144186084	byFrequency	TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr19:58370298G>A	ENST00000339656.5	+	3	700	c.518G>A	c.(517-519)cGc>cAc	p.R173H	ZNF587_ENST00000423137.1_Missense_Mutation_p.R172H|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_Silent_p.R30R|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.R130H	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TTTGTCTTCCGCGAGTTTGGG	0.473																																					Pancreas(59;641 1233 1885 20055 50741)												0													95.0	86.0	89.0					19																	58370298		2189	4289	6478	SO:0001583	missense	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.518G>A	19.37:g.58370298G>A	ENSP00000345479:p.Arg173His		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.906134	0.00512	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07114	3.35;3.34;3.22	1.4	-2.8	0.05823	.	.	.	.	.	T	0.04952	0.0133	N	0.20483	0.58	0.21984	N	0.999437	B;B	0.12630	0.006;0.0	B;B	0.11329	0.006;0.0	T	0.32214	-0.9915	8	0.40728	T	0.16	.	6.7746	0.23613	0.6235:0.0:0.3765:0.0	.	172;173	G3V0H5;Q96SQ5	.;ZN587_HUMAN	H	130;172;173;173;130	ENSP00000393865:R172H;ENSP00000345479:R173H;ENSP00000406999:R130H	ENSP00000345479:R173H	R	+	2	0	ZNF587	63062110	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.323000	0.07997	-1.917000	0.01074	-2.766000	0.00121	CGC		0.473	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2		NM_032828	
ZNF716	441234	hgsc.bcm.edu;ucsc.edu	37	7	57528629	57528629	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr7:57528629C>A	ENST00000420713.1	+	4	574	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	154					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)|kidney(1)|lung(20)|ovary(2)	24						CTACCCAAAACAAAACATTTC	0.328																																																	0													163.0	151.0	154.0					7																	57528629		692	1591	2283	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.462C>A	7.37:g.57528629C>A	ENSP00000394248:p.Asn154Lys			Missense_Mutation	SNP	ENST00000420713.1	37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	4.629	0.116989	0.08881	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.04809	3.55	0.195	0.195	0.15151	.	.	.	.	.	T	0.02083	0.0065	N	0.11427	0.14	0.09310	N	1	P	0.40144	0.704	B	0.32762	0.152	T	0.43278	-0.9401	9	0.51188	T	0.08	.	2.6947	0.05130	0.0:0.5591:0.0:0.4409	.	142	A6NP11	ZN716_HUMAN	K	154;142	ENSP00000394248:N154K	ENSP00000387687:N142K	N	+	3	2	ZNF716	57532571	0.115000	0.22152	0.129000	0.21949	0.127000	0.20565	1.447000	0.35101	0.300000	0.22699	0.306000	0.20318	AAC		0.328	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1		NM_001159279	
ZNF782	158431	hgsc.bcm.edu;ucsc.edu	37	9	99580432	99580432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr9:99580432T>A	ENST00000481138.1	-	6	2534	c.1873A>T	c.(1873-1875)Aaa>Taa	p.K625*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K493*|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGAAAGCTTTTCCACATTCA	0.433																																																	0													122.0	114.0	116.0					9																	99580432		2203	4300	6503	SO:0001587	stop_gained	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1873A>T	9.37:g.99580432T>A	ENSP00000419397:p.Lys625*		B2RNR0	Nonsense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	35|35	5.421240|5.421240	0.96111|0.96111	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|.	.|.	.|.	3.06|3.06	3.06|3.06	0.35304|0.35304	.|.	0.000000|0.000000	0.35646|0.35646	N|N	0.003064|0.003064	T|.	0.59280|.	0.2182|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57487|.	-0.7803|.	5|.	.|.	.|.	.|.	.|.	9.8434|9.8434	0.41013|0.41013	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	613|625;493	.|.	.|.	K|K	-|-	2|1	0|0	ZNF782|ZNF782	98620253|98620253	0.903000|0.903000	0.30736|0.30736	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	1.398000|1.398000	0.34554|0.34554	1.635000|1.635000	0.50512|0.50512	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1		NM_001001662	
ZNHIT6	54680	hgsc.bcm.edu;ucsc.edu	37	1	86123567	86123567	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:86123567C>G	ENST00000370574.3	-	9	1468	c.1335G>C	c.(1333-1335)ttG>ttC	p.L445F	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.L406F			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	445					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TGGATCCTTTCAATACCACAT	0.299																																																	0													121.0	123.0	122.0					1																	86123567		2202	4292	6494	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1335G>C	1.37:g.86123567C>G	ENSP00000359606:p.Leu445Phe		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400446	0.62177	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.56611	0.53;0.45	5.67	1.48	0.22813	.	0.000000	0.64402	D	0.000004	T	0.50034	0.1592	L	0.52905	1.665	0.41281	D	0.986912	D;D	0.89917	0.999;1.0	D;D	0.85130	0.985;0.997	T	0.51996	-0.8634	10	0.59425	D	0.04	-10.4535	6.6773	0.23102	0.0:0.5322:0.0:0.4678	.	406;445	B4DP13;Q9NWK9	.;BCD1_HUMAN	F	406;445	ENSP00000414344:L406F;ENSP00000359606:L445F	ENSP00000359606:L445F	L	-	3	2	ZNHIT6	85896155	0.998000	0.40836	0.949000	0.38748	0.981000	0.71138	0.247000	0.18179	0.057000	0.16193	-0.150000	0.13652	TTG		0.299	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1		NM_017953	
ZNHIT6	54680	hgsc.bcm.edu;ucsc.edu	37	1	86123569	86123569	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr1:86123569A>T	ENST00000370574.3	-	9	1466	c.1333T>A	c.(1333-1335)Ttg>Atg	p.L445M	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.L406M			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	445					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GATCCTTTCAATACCACATGT	0.294																																																	0													121.0	122.0	122.0					1																	86123569		2202	4292	6494	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1333T>A	1.37:g.86123569A>T	ENSP00000359606:p.Leu445Met		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833741	0.71258	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.56275	0.55;0.47	5.67	4.55	0.56014	.	0.000000	0.64402	D	0.000004	T	0.55497	0.1924	L	0.52905	1.665	0.40469	D	0.980326	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.60979	-0.7155	10	0.59425	D	0.04	-10.4535	10.1145	0.42583	0.9235:0.0:0.0765:0.0	.	406;445	B4DP13;Q9NWK9	.;BCD1_HUMAN	M	406;445	ENSP00000414344:L406M;ENSP00000359606:L445M	ENSP00000359606:L445M	L	-	1	2	ZNHIT6	85896157	0.968000	0.33430	0.875000	0.34327	0.982000	0.71751	2.312000	0.43726	1.091000	0.41335	0.533000	0.62120	TTG		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1		NM_017953	
VHL	7428	ucsc.edu	37	3	10188197	10188197	+	Splice_Site	SNP	G	G	C			TCGA-B0-4828-01A-01D-1361-10	TCGA-B0-4828-11A-01D-1361-10	G	G	G	C	G	G	Unknown	Valid	Somatic	.	WXS	PGM	.		SOLID	c2e7f8c5-12bc-45e8-8407-9a39b54f5a4d	ac585f57-7f5d-4217-9022-a618a644f8f7	g.chr3:10188197G>C	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(10)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTCCCGATAGGTCACCTTTG	0.537		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Unknown(10)	kidney(10)	GRCh37	CS014769|CS984220	VHL	S							164.0	152.0	156.0					3																	10188197		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>C	3.37:g.10188197G>C			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703243	0.30232	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163197	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	.		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
