#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	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_refseq_mrna_id	i_secondary_variant_classification
ABCA8	10351	hgsc.bcm.edu;bcgsc.ca	37	17	66873815	66873815	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:66873815T>C	ENST00000269080.2	-	31	4061	c.3924A>G	c.(3922-3924)ctA>ctG	p.L1308L	ABCA8_ENST00000586539.1_Silent_p.L1348L|ABCA8_ENST00000430352.2_Silent_p.L1348L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1308	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCCTTTCAGTAGCACCTGCA	0.537																																					p.L1308L		.											.	ABCA8	93	0			c.A3924G						.						81.0	74.0	76.0					17																	66873815		2203	4300	6503	SO:0001819	synonymous_variant	10351	exon31			TTTCAGTAGCACC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3924A>G	17.37:g.66873815T>C		95.0	0.0		62.0	4.0	NM_007168	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																			.		0.537	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	hgsc.bcm.edu;bcgsc.ca	37	17	66890418	66890418	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:66890418T>C	ENST00000269080.2	-	21	2949	c.2812A>G	c.(2812-2814)Aga>Gga	p.R938G	ABCA8_ENST00000586539.1_Missense_Mutation_p.R978G|ABCA8_ENST00000430352.2_Missense_Mutation_p.R978G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	938					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAATTCAATCTTTTGGCATTG	0.313																																					p.R938G		.											.	ABCA8	93	0			c.A2812G						.						68.0	62.0	64.0					17																	66890418		2203	4300	6503	SO:0001583	missense	10351	exon21			TCAATCTTTTGGC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2812A>G	17.37:g.66890418T>C	ENSP00000269080:p.Arg938Gly	71.0	0.0		80.0	4.0	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812218	0.50527	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85702	-2.02;-2.02	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000013	D	0.86994	0.6067	M	0.83384	2.64	0.35528	D	0.802039	B;B;B;B;B	0.30664	0.154;0.289;0.021;0.039;0.097	B;B;B;B;B	0.40477	0.132;0.33;0.029;0.099;0.16	D	0.86141	0.1581	10	0.17832	T	0.49	.	11.4185	0.49967	0.0:0.0:0.0:1.0	.	917;978;978;978;938	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	G	938;978;917	ENSP00000269080:R938G;ENSP00000402814:R978G	ENSP00000269080:R938G	R	-	1	2	ABCA8	64402013	0.006000	0.16342	1.000000	0.80357	0.962000	0.63368	1.194000	0.32174	2.260000	0.74910	0.533000	0.62120	AGA	.		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCC1	4363	ucsc.edu;bcgsc.ca	37	16	16228238	16228238	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:16228238A>G	ENST00000399410.3	+	28	4173	c.3998A>G	c.(3997-3999)aAg>aGg	p.K1333R	ABCC1_ENST00000351154.5_Missense_Mutation_p.K1274R|ABCC1_ENST00000346370.5_Missense_Mutation_p.K1277R|ABCC1_ENST00000349029.5_Missense_Mutation_p.K1218R|ABCC1_ENST00000345148.5_Missense_Mutation_p.K1333R|ABCC1_ENST00000399408.2_Missense_Mutation_p.K1343R	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1333	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGAGCTGGGAAGTCGTCCCTG	0.612																																					p.K1333R		.											.	ABCC1	94	0			c.A3998G						.						82.0	89.0	87.0					16																	16228238		2121	4230	6351	SO:0001583	missense	4363	exon28			CTGGGAAGTCGTC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3998A>G	16.37:g.16228238A>G	ENSP00000382342:p.Lys1333Arg	62.0	0.0		51.0	5.0	NM_004996	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332489	0.81801	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2	5.91	5.91	0.95273	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.99705	4.715	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.997;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.998;0.996;0.995;0.999	D	0.97406	0.9999	10	0.87932	D	0	-30.202	15.5295	0.75942	1.0:0.0:0.0:0.0	.	1218;1333;1277;1274;1333;1343	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	R	1333;1343;1277;1274;1333;1218;1017	ENSP00000382342:K1333R;ENSP00000382340:K1343R;ENSP00000263019:K1277R;ENSP00000263017:K1274R;ENSP00000263014:K1333R;ENSP00000263016:K1218R	ENSP00000263014:K1333R	K	+	2	0	ABCC1	16135739	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	9.304000	0.96190	2.254000	0.74563	0.533000	0.62120	AAG	.		0.612	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
ADAMTS6	11174	hgsc.bcm.edu;bcgsc.ca	37	5	64510631	64510631	+	IGR	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:64510631A>G								ADAMTS6 (16039 upstream) : ADAMTS6 (82403 downstream)																							CTCCAGCACAAGTAGCTGAGC	0.443																																					p.T855T		.											.	ADAMTS6	226	0			c.T2565C						.						130.0	114.0	119.0					5																	64510631		2203	4300	6503	SO:0001628	intergenic_variant	11174	exon20			AGCACAAGTAGCT																													5.37:g.64510631A>G		119.0	0.0		110.0	5.0	NM_197941		Silent	SNP		37																																																																																				.	0	0.443								
ADCY9	115	hgsc.bcm.edu;bcgsc.ca	37	16	4164949	4164949	+	Silent	SNP	G	G	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:4164949G>T	ENST00000294016.3	-	2	1033	c.495C>A	c.(493-495)acC>acA	p.T165T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	165					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTACAGCTTGGTGAAGGTAA	0.592																																					p.T165T		.											.	ADCY9	139	0			c.C495A						.						86.0	84.0	85.0					16																	4164949		2197	4300	6497	SO:0001819	synonymous_variant	115	exon2			CAGCTTGGTGAAG	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.495C>A	16.37:g.4164949G>T		70.0	0.0		50.0	4.0	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																			.		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
AKAP9	10142	hgsc.bcm.edu;bcgsc.ca	37	7	91706167	91706167	+	Splice_Site	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:91706167A>G	ENST00000359028.2	+	30	6873		c.e30-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGTTATTAAAGATTACAAAC	0.254			T	BRAF	papillary thyroid																																.		.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	755	0			c.6613-2A>G						.						20.0	20.0	20.0					7																	91706167		2150	4238	6388	SO:0001630	splice_region_variant	10142	exon29			TATTAAAGATTAC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6649-1A>G	7.37:g.91706167A>G		171.0	0.0		121.0	5.0	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	20.5	4.005307	0.74932	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0786	0.80985	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91544103	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.422000	0.80217	2.254000	0.74563	0.460000	0.39030	.	.		0.254	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron
AKNAD1	254268	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	109394791	109394791	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:109394791G>A	ENST00000370001.3	-	2	764	c.496C>T	c.(496-498)Cca>Tca	p.P166S	AKNAD1_ENST00000369994.1_Missense_Mutation_p.P166S|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P166S	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	166						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGAGTTCTGGGGTTTGTTCT	0.408																																					p.P166S		.											.	AKNAD1	93	0			c.C496T						.						59.0	61.0	60.0					1																	109394791		2203	4299	6502	SO:0001583	missense	254268	exon2			GTTCTGGGGTTTG	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.496C>T	1.37:g.109394791G>A	ENSP00000359018:p.Pro166Ser	412.0	0.0		294.0	14.0	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	6.761	0.509331	0.12883	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.07800	3.18;3.18;3.16	5.77	-2.1	0.07210	.	0.664334	0.14926	N	0.290352	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	0.999993	B	0.20052	0.041	B	0.14578	0.011	T	0.45234	-0.9275	10	0.30854	T	0.27	0.1785	5.138	0.14945	0.4742:0.0:0.3244:0.2014	.	166	Q5T1N1	AKND1_HUMAN	S	166	ENSP00000359018:P166S;ENSP00000359011:P166S;ENSP00000359012:P166S	ENSP00000359011:P166S	P	-	1	0	AKNAD1	109196314	0.000000	0.05858	0.834000	0.33040	0.604000	0.37047	-0.130000	0.10498	-0.199000	0.10317	-0.302000	0.09304	CCA	.		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	
ALB	213	hgsc.bcm.edu;bcgsc.ca	37	4	74274385	74274385	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:74274385T>C	ENST00000295897.4	+	4	434	c.345T>C	c.(343-345)tgT>tgC	p.C115C	ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Silent_p.C115C|ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACTGCTGTGCAAAACAAG	0.438																																					p.C115C		.											.	ALB	96	0			c.T345C						.						94.0	88.0	90.0					4																	74274385		2203	4300	6503	SO:0001819	synonymous_variant	213	exon4			CTGCTGTGCAAAA	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.345T>C	4.37:g.74274385T>C		212.0	0.0		118.0	5.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000295897.4	37	CCDS3555.1																																																																																			.		0.438	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	
ALDH8A1	64577	hgsc.bcm.edu;bcgsc.ca	37	6	135239987	135239987	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:135239987T>C	ENST00000265605.2	-	7	1098	c.1030A>G	c.(1030-1032)Aga>Gga	p.R344G	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R294G|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R290G	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	344					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCAAGAGCTCTCTTGACGTAA	0.463																																					p.R344G		.											.	ALDH8A1	94	0			c.A1030G						.						102.0	108.0	106.0					6																	135239987		2203	4300	6503	SO:0001583	missense	64577	exon7			GAGCTCTCTTGAC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1030A>G	6.37:g.135239987T>C	ENSP00000265605:p.Arg344Gly	124.0	0.0		106.0	6.0	NM_022568	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	T	5.017	0.188873	0.09547	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.76839	-1.05;1.54;-1.05;-1.05	5.57	5.57	0.84162	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.445184	0.27155	N	0.020664	T	0.50786	0.1636	N	0.25380	0.74	0.22457	N	0.999083	B;B;B	0.13145	0.002;0.006;0.007	B;B;B	0.09377	0.002;0.003;0.004	T	0.35226	-0.9797	10	0.28530	T	0.3	.	15.73	0.77794	0.0:0.0:0.0:1.0	.	294;290;344	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	G	344;290;294;29	ENSP00000265605:R344G;ENSP00000356819:R290G;ENSP00000356821:R294G;ENSP00000437161:R29G	ENSP00000265605:R344G	R	-	1	2	ALDH8A1	135281680	0.753000	0.28349	0.497000	0.27552	0.150000	0.21749	3.104000	0.50306	2.116000	0.64780	0.533000	0.62120	AGA	.		0.463	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2		
ALS2CL	259173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	46722798	46722798	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:46722798C>T	ENST00000318962.4	-	13	1457	c.1374G>A	c.(1372-1374)agG>agA	p.R458R	ALS2CL_ENST00000415953.1_Silent_p.R458R	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	458					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCCGTGTACCTGAAGGGCT	0.662																																					p.R458R		.											.	ALS2CL	155	0			c.G1374A						.						78.0	85.0	82.0					3																	46722798		2203	4300	6503	SO:0001819	synonymous_variant	259173	exon13			CGTGTACCTGAAG	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1374G>A	3.37:g.46722798C>T		211.0	0.0		152.0	53.0	NM_001190707	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	CCDS2743.1																																																																																			.		0.662	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129	
ANKRD2	26287	hgsc.bcm.edu;bcgsc.ca	37	10	99342105	99342105	+	Missense_Mutation	SNP	A	A	G	rs534926101		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:99342105A>G	ENST00000307518.5	+	7	1036	c.769A>G	c.(769-771)Aca>Gca	p.T257A	ANKRD2_ENST00000298808.5_Intron|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.T230A|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Intron|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	257					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGCAGTCCGGACAGGGCAGGT	0.622																																					p.T257A		.											.	ANKRD2	90	0			c.A769G						.						55.0	42.0	47.0					10																	99342105		2189	4287	6476	SO:0001583	missense	26287	exon7			GTCCGGACAGGGC	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.769A>G	10.37:g.99342105A>G	ENSP00000306163:p.Thr257Ala	113.0	0.0		65.0	5.0	NM_020349	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.304274	0.60305	.	.	ENSG00000165887	ENST00000307518;ENST00000370655	T;T	0.61980	0.06;0.06	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.62768	0.2455	N	0.16016	0.355	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59600	-0.7424	10	0.15066	T	0.55	-15.7438	14.7787	0.69749	1.0:0.0:0.0:0.0	.	257	Q9GZV1	ANKR2_HUMAN	A	257;230	ENSP00000306163:T257A;ENSP00000359689:T230A	ENSP00000306163:T257A	T	+	1	0	ANKRD2	99332095	1.000000	0.71417	0.983000	0.44433	0.039000	0.13416	8.102000	0.89548	2.131000	0.65755	0.533000	0.62120	ACA	.		0.622	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
AP2B1	163	hgsc.bcm.edu;bcgsc.ca	37	17	33925250	33925250	+	Splice_Site	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:33925250A>G	ENST00000262325.7	+	3	592	c.39A>G	c.(37-39)ggA>ggG	p.G13G	AP2B1_ENST00000537622.2_Splice_Site_p.G13G|AP2B1_ENST00000312678.8_Splice_Site_p.G13G|AP2B1_ENST00000592545.1_Splice_Site_p.G13G|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000589344.1_Splice_Site_p.G13G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	13					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTTGCAGGAGAAATATTTG	0.418																																					p.G13G		.											.	AP2B1	91	0			c.A39G						.						77.0	74.0	75.0					17																	33925250		2203	4300	6503	SO:0001630	splice_region_variant	163	exon3			TGCAGGAGAAATA	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.38-1A>G	17.37:g.33925250A>G		110.0	0.0		85.0	4.0	NM_001282	A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	CCDS32622.1																																																																																			.		0.418	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		Silent
APOBEC1	339	hgsc.bcm.edu;bcgsc.ca	37	12	7805229	7805229	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:7805229A>G	ENST00000229304.4	-	3	267	c.247T>C	c.(247-249)Tcc>Ccc	p.S83P		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	83				S -> T (in Ref. 5; AAD10701). {ECO:0000305}.	cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAGGTGATGGAGCAGCTCATG	0.468																																					p.S83P	Pancreas(135;929 1826 4531 10527 41012)	.											.	APOBEC1	226	0			c.T247C						.						48.0	47.0	47.0					12																	7805229		2203	4300	6503	SO:0001583	missense	339	exon3			TGATGGAGCAGCT	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.247T>C	12.37:g.7805229A>G	ENSP00000229304:p.Ser83Pro	94.0	0.0		64.0	4.0	NM_001644	Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237759	0.58886	.	.	ENSG00000111701	ENST00000229304	T	0.66460	-0.21	4.48	3.23	0.37069	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	0.236214	0.30528	N	0.009438	T	0.76478	0.3993	M	0.79805	2.47	0.27360	N	0.955992	D	0.65815	0.995	D	0.63283	0.913	T	0.66952	-0.5793	10	0.51188	T	0.08	-13.8594	6.849	0.24005	0.7934:0.0:0.0:0.2066	.	83	P41238	ABEC1_HUMAN	P	83	ENSP00000229304:S83P	ENSP00000229304:S83P	S	-	1	0	APOBEC1	7696496	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	0.820000	0.27323	1.805000	0.52779	0.379000	0.24179	TCC	.		0.468	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644	
APOM	55937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	31623826	31623826	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:31623826A>C	ENST00000375916.3	+	1	579	c.83A>C	c.(82-84)cAa>cCa	p.Q28P	C6orf47-AS1_ENST00000422049.1_RNA|APOM_ENST00000375918.2_Intron|APOM_ENST00000375920.4_Intron	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	28				MFHQIWAALLYFYGIILNSIYQCPEHSQLTTLGVDGKE -> RFPDSIWGSRSDTSGSPQVPKLYFCGARRESPQPQT (in Ref. 3; AAF29014). {ECO:0000305}.	cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GAGCACAGTCAACTGACAACT	0.532																																					p.Q28P	Colon(39;129 858 13764 41453 42617)	.											.	APOM	90	0			c.A83C						.						63.0	41.0	49.0					6																	31623826		1510	2709	4219	SO:0001583	missense	55937	exon1			ACAGTCAACTGAC	AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"""Apolipoproteins"", ""Lipocalins"""	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.83A>C	6.37:g.31623826A>C	ENSP00000365081:p.Gln28Pro	158.0	0.0		208.0	41.0	NM_019101	B0UX98|Q5SRP4|Q9P046|Q9UMP6	Missense_Mutation	SNP	ENST00000375916.3	37	CCDS4710.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557628	0.27827	.	.	ENSG00000204444	ENST00000375916	.	.	.	5.34	-2.35	0.06684	.	0.279884	0.30085	N	0.010446	T	0.09069	0.0224	N	0.20401	0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32025	-0.9922	9	0.41790	T	0.15	-12.5912	8.4387	0.32801	0.3283:0.5869:0.0848:0.0	.	28	O95445	APOM_HUMAN	P	28	.	ENSP00000365081:Q28P	Q	+	2	0	APOM	31731805	0.021000	0.18746	0.461000	0.27105	0.905000	0.53344	0.040000	0.13905	-0.253000	0.09514	0.402000	0.26972	CAA	.		0.532	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076527.3	NM_019101	
ARHGAP10	79658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	148802995	148802995	+	Nonsense_Mutation	SNP	G	G	T	rs138388284		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:148802995G>T	ENST00000336498.3	+	10	1185	c.946G>T	c.(946-948)Gga>Tga	p.G316*	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCAGGGGGACGGAGAGGTGTT	0.413																																					p.G316X		.											.	ARHGAP10	229	0			c.G946T						.						154.0	150.0	152.0					4																	148802995		2203	4300	6503	SO:0001587	stop_gained	79658	exon10			GGGGACGGAGAGG	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.946G>T	4.37:g.148802995G>T	ENSP00000336923:p.Gly316*	188.0	0.0		110.0	38.0	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	38	6.804907	0.97853	.	.	ENSG00000071205	ENST00000336498	.	.	.	4.94	4.94	0.65067	.	0.110592	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	14.3287	0.66537	0.0:0.1492:0.8507:0.0	.	.	.	.	X	316	.	ENSP00000336923:G316X	G	+	1	0	ARHGAP10	149022445	0.085000	0.21516	0.783000	0.31826	0.053000	0.15095	1.461000	0.35255	2.284000	0.76573	0.591000	0.81541	GGA	G|1.000;A|0.000		0.413	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
ARHGAP10	79658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	148984403	148984403	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:148984403C>A	ENST00000336498.3	+	21	2371	c.2132C>A	c.(2131-2133)cCt>cAt	p.P711H	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GGGTCGTCCCCTTTCCCCTTT	0.562																																					p.P711H		.											.	ARHGAP10	229	0			c.C2132A						.						152.0	107.0	122.0					4																	148984403		2203	4300	6503	SO:0001583	missense	79658	exon21			CGTCCCCTTTCCC	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2132C>A	4.37:g.148984403C>A	ENSP00000336923:p.Pro711His	148.0	0.0		131.0	30.0	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458566	0.43634	.	.	ENSG00000071205	ENST00000336498	T	0.10288	2.89	5.56	5.56	0.83823	Src homology-3 domain (1);	1.151220	0.06032	N	0.653185	T	0.10252	0.0251	N	0.14661	0.345	0.80722	D	1	D;B;B	0.55172	0.97;0.016;0.0	B;B;B	0.40901	0.343;0.005;0.001	T	0.43294	-0.9400	10	0.45353	T	0.12	.	16.4441	0.83910	0.0:1.0:0.0:0.0	.	144;292;711	Q9H7G7;Q86T21;A1A4S6	.;.;RHG10_HUMAN	H	711	ENSP00000336923:P711H	ENSP00000336923:P711H	P	+	2	0	ARHGAP10	149203853	0.006000	0.16342	0.006000	0.13384	0.020000	0.10135	1.978000	0.40598	2.615000	0.88500	0.555000	0.69702	CCT	.		0.562	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
ASXL2	55252	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	25965337	25965337	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:25965337C>G	ENST00000435504.4	-	13	4162	c.3869G>C	c.(3868-3870)aGt>aCt	p.S1290T	ASXL2_ENST00000272341.4_Missense_Mutation_p.S773T|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1262T|ASXL2_ENST00000404843.1_Missense_Mutation_p.S773T			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1290					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAGTAGAACTGAAAAGCTC	0.542																																					p.S1290T		.											.	ASXL2	23	0			c.G3869C						.						38.0	40.0	39.0					2																	25965337		1944	4128	6072	SO:0001583	missense	55252	exon12			GTAGAACTGAAAA			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3869G>C	2.37:g.25965337C>G	ENSP00000391447:p.Ser1290Thr	187.0	0.0		138.0	10.0	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	T	11.82	1.752668	0.31046	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18960	2.2;2.2;2.18;2.18	4.79	-9.57	0.00562	.	1.174300	0.05956	N	0.639799	T	0.13628	0.0330	N	0.19112	0.55	0.09310	N	1	P;B	0.46220	0.874;0.094	B;B	0.44163	0.443;0.026	T	0.30650	-0.9971	10	0.20046	T	0.44	1.5602	14.0348	0.64638	0.0778:0.7438:0.0785:0.1	.	773;1290	Q76L83-2;Q76L83	.;ASXL2_HUMAN	T	1290;1262;773;773	ENSP00000391447:S1290T;ENSP00000337250:S1262T;ENSP00000383920:S773T;ENSP00000272341:S773T	ENSP00000272341:S773T	S	-	2	0	ASXL2	25818841	0.000000	0.05858	0.000000	0.03702	0.935000	0.57460	-2.133000	0.01308	-3.216000	0.00213	-0.254000	0.11334	AGT	.		0.542	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
ATL3	25923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	63396832	63396832	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:63396832C>A	ENST00000398868.3	-	13	1861	c.1585G>T	c.(1585-1587)Gca>Tca	p.A529S	ATL3_ENST00000332645.4_Missense_Mutation_p.A556S|ATL3_ENST00000538786.1_Missense_Mutation_p.A511S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	529					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCAACAACTGCATCCCTCACA	0.388																																					p.A529S		.											.	ATL3	69	0			c.G1585T						.						124.0	117.0	119.0					11																	63396832		1905	4120	6025	SO:0001583	missense	25923	exon13			CAACTGCATCCCT		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1585G>T	11.37:g.63396832C>A	ENSP00000381844:p.Ala529Ser	277.0	0.0		249.0	102.0	NM_015459	Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865783	0.17250	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.80480	-1.25;-1.38;-1.24	5.63	1.39	0.22231	.	0.572977	0.18801	N	0.130797	T	0.52948	0.1766	N	0.04959	-0.14	0.09310	N	1	B	0.28820	0.224	B	0.24701	0.055	T	0.38564	-0.9655	10	0.29301	T	0.29	-7.3235	1.6857	0.02841	0.1828:0.4839:0.155:0.1782	.	529	Q6DD88	ATLA3_HUMAN	S	529;556;511	ENSP00000381844:A529S;ENSP00000329034:A556S;ENSP00000437593:A511S	ENSP00000329034:A556S	A	-	1	0	ATL3	63153408	0.002000	0.14202	0.425000	0.26659	0.009000	0.06853	0.010000	0.13242	0.298000	0.22638	-0.274000	0.10170	GCA	.		0.388	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	
ATP2B1	490	hgsc.bcm.edu;bcgsc.ca	37	12	90014010	90014010	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:90014010T>C	ENST00000428670.3	-	11	2051	c.1595A>G	c.(1594-1596)gAg>gGg	p.E532G	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E532G|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E532G|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E532G|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E275G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	532					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACCCTCTTTCTCTGGTGGCTA	0.338																																					p.E532G		.											.	ATP2B1	516	0			c.A1595G						.						63.0	63.0	63.0					12																	90014010		2203	4300	6503	SO:0001583	missense	490	exon10			TCTTTCTCTGGTG	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1595A>G	12.37:g.90014010T>C	ENSP00000392043:p.Glu532Gly	139.0	0.0		96.0	4.0	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301762	0.81136	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	N	0.16307	0.4	0.80722	D	1	D;B;B	0.89917	1.0;0.189;0.092	D;B;B	0.80764	0.994;0.125;0.056	T	0.68857	-0.5298	9	.	.	.	-24.6541	15.5449	0.76090	0.0:0.0:0.0:1.0	.	532;532;532	P20020-3;P20020-2;P20020-6	.;.;.	G	532;532;532;532;275	ENSP00000261173:E532G;ENSP00000343599:E532G;ENSP00000352054:E532G;ENSP00000392043:E532G;ENSP00000376869:E275G	.	E	-	2	0	ATP2B1	88538141	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	8.008000	0.88588	2.070000	0.61991	0.383000	0.25322	GAG	.		0.338	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATR	545	hgsc.bcm.edu;bcgsc.ca	37	3	142226823	142226823	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:142226823A>G	ENST00000350721.4	-	28	5102	c.4981T>C	c.(4981-4983)Ttt>Ctt	p.F1661L	ATR_ENST00000383101.3_Missense_Mutation_p.F1597L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1661	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTGTAATAAATGATTCAAAG	0.373								Other conserved DNA damage response genes																													p.F1661L		.											.	ATR	1139	0			c.T4981C						.						70.0	71.0	70.0					3																	142226823		2203	4300	6503	SO:0001583	missense	545	exon28			TAATAAATGATTC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4981T>C	3.37:g.142226823A>G	ENSP00000343741:p.Phe1661Leu	139.0	0.0		114.0	5.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630358	0.67015	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.22539	1.95;1.95	5.42	5.42	0.78866	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.117930	0.64402	D	0.000013	T	0.19765	0.0475	L	0.56769	1.78	0.58432	D	0.999999	P	0.46064	0.872	B	0.35114	0.196	T	0.06679	-1.0813	10	0.20046	T	0.44	-21.118	15.4559	0.75314	1.0:0.0:0.0:0.0	.	1661	Q13535	ATR_HUMAN	L	1661;1597	ENSP00000343741:F1661L;ENSP00000372581:F1597L	ENSP00000343741:F1661L	F	-	1	0	ATR	143709513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.140000	0.71738	2.051000	0.60960	0.482000	0.46254	TTT	.		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
BRCA2	675	hgsc.bcm.edu;bcgsc.ca	37	13	32914823	32914823	+	Missense_Mutation	SNP	A	A	G	rs397507369|rs80359574|rs587781470		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr13:32914823A>G	ENST00000380152.3	+	11	6564	c.6331A>G	c.(6331-6333)Aag>Gag	p.K2111E	BRCA2_ENST00000544455.1_Missense_Mutation_p.K2111E			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2111					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCGTGTTGATAAGAGAAACCC	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.K2111E	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	BRCA2	3153	0			c.A6331G						.						40.0	42.0	41.0					13																	32914823		2203	4297	6500	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	GTTGATAAGAGAA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6331A>G	13.37:g.32914823A>G	ENSP00000369497:p.Lys2111Glu	102.0	0.0		96.0	4.0	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	6.836	0.523531	0.13066	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00705	5.81;5.81	5.49	-0.7	0.11273	.	0.904941	0.09578	N	0.783329	T	0.00754	0.0025	L	0.38838	1.175	0.09310	N	1	B	0.22276	0.067	B	0.18263	0.021	T	0.44128	-0.9348	10	0.10636	T	0.68	.	10.0594	0.42266	0.571:0.0:0.429:0.0	.	2111	P51587	BRCA2_HUMAN	E	2111	ENSP00000369497:K2111E;ENSP00000439902:K2111E	ENSP00000369497:K2111E	K	+	1	0	BRCA2	31812823	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	0.419000	0.21247	0.085000	0.17107	0.482000	0.46254	AAG	.		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
C17orf64	124773	hgsc.bcm.edu;bcgsc.ca	37	17	58508620	58508620	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:58508620A>G	ENST00000269127.4	+	6	788	c.704A>G	c.(703-705)gAa>gGa	p.E235G	RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	235										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CCAGAGACTGAACCGTAAGAA	0.453																																					p.E235G		.											.	C17orf64	271	0			c.A704G						.						42.0	54.0	50.0					17																	58508620		2203	4300	6503	SO:0001583	missense	124773	exon6			AGACTGAACCGTA	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.704A>G	17.37:g.58508620A>G	ENSP00000269127:p.Glu235Gly	109.0	0.0		84.0	5.0	NM_181707	Q8IY87	Missense_Mutation	SNP	ENST00000269127.4	37	CCDS32698.2	.	.	.	.	.	.	.	.	.	.	A	4.088	0.014223	0.07959	.	.	ENSG00000141371	ENST00000269127	.	.	.	4.42	-4.73	0.03259	.	1.446720	0.04997	U	0.468448	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	9	0.15066	T	0.55	1.8762	3.916	0.09224	0.4688:0.0:0.2506:0.2806	.	235	Q86WR6	CQ064_HUMAN	G	235	.	ENSP00000269127:E235G	E	+	2	0	C17orf64	55863402	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.020000	0.12525	-0.698000	0.05085	-0.242000	0.12053	GAA	.		0.453	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707	
C18orf54	162681	hgsc.bcm.edu;bcgsc.ca	37	18	51889221	51889221	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr18:51889221A>G	ENST00000300091.5	+	4	1002	c.670A>G	c.(670-672)Aag>Gag	p.K224E	C18orf54_ENST00000382911.4_Missense_Mutation_p.K385E|C18orf54_ENST00000578138.1_Missense_Mutation_p.K3E	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	224						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GTCCATGAAAAAGGATGACAG	0.348																																					p.K224E		.											.	C18orf54	92	0			c.A670G						.						87.0	86.0	86.0					18																	51889221		2203	4300	6503	SO:0001583	missense	162681	exon4			ATGAAAAAGGATG	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.670A>G	18.37:g.51889221A>G	ENSP00000300091:p.Lys224Glu	101.0	0.0		81.0	4.0	NM_173529	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	A	9.452	1.090743	0.20471	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.17854	2.25;2.25	5.12	3.95	0.45737	.	0.480335	0.23358	N	0.049045	T	0.13628	0.0330	L	0.55481	1.735	0.27894	N	0.939224	B;B	0.32829	0.053;0.386	B;B	0.25291	0.015;0.059	T	0.15350	-1.0440	10	0.34782	T	0.22	-0.0055	6.552	0.22440	0.6711:0.181:0.0:0.1479	.	385;224	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	E	224;385	ENSP00000300091:K224E;ENSP00000372368:K385E	ENSP00000300091:K224E	K	+	1	0	C18orf54	50143219	0.972000	0.33761	0.925000	0.36789	0.882000	0.50991	1.215000	0.32431	0.778000	0.33520	0.402000	0.26972	AAG	.		0.348	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529	
MISP	126353	hgsc.bcm.edu;bcgsc.ca	37	19	758323	758323	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:758323T>C	ENST00000215582.6	+	2	1480	c.1377T>C	c.(1375-1377)acT>acC	p.T459T		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	459					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGCTGCGACTTCACCAAAGG	0.622																																					p.T459T		.											.	C19orf21	91	0			c.T1377C						.						50.0	41.0	44.0					19																	758323		2203	4300	6503	SO:0001819	synonymous_variant	126353	exon2			TGCGACTTCACCA	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1377T>C	19.37:g.758323T>C		75.0	0.0		81.0	4.0	NM_173481		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																			.		0.622	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
C21orf62	56245	hgsc.bcm.edu;bcgsc.ca	37	21	34166650	34166650	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr21:34166650T>C	ENST00000536776.1	-	2	223	c.83A>G	c.(82-84)aAg>aGg	p.K28R	C21orf62_ENST00000479548.1_Missense_Mutation_p.K28R|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.K28R|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.K28R	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				CGTGCTGTTCTTCTGACCTTT	0.527																																					p.K28R		.											.	C21orf62	91	0			c.A83G						.						88.0	88.0	88.0					21																	34166650		2026	4188	6214	SO:0001583	missense	56245	exon4			CTGTTCTTCTGAC	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.83A>G	21.37:g.34166650T>C	ENSP00000444950:p.Lys28Arg	140.0	0.0		98.0	5.0	NM_001162495	A8K4L8	Missense_Mutation	SNP	ENST00000536776.1	37	CCDS42919.2	.	.	.	.	.	.	.	.	.	.	T	9.826	1.187170	0.21870	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	4.95	-9.9	0.00461	.	1.368940	0.05385	N	0.537977	T	0.34483	0.0899	L	0.50333	1.59	0.09310	N	0.999992	B	0.11235	0.004	B	0.08055	0.003	T	0.15065	-1.0450	9	0.35671	T	0.21	.	7.6993	0.28613	0.2964:0.466:0.0:0.2375	.	28	Q9NYP8	CU062_HUMAN	R	28;28;28;75;28	.	ENSP00000371810:K75R	K	-	2	0	C21orf62	33088520	0.130000	0.22417	0.329000	0.25429	0.605000	0.37080	-0.701000	0.05075	-2.319000	0.00643	0.379000	0.24179	AAG	.		0.527	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596	
C2CD3	26005	hgsc.bcm.edu;bcgsc.ca	37	11	73824846	73824846	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:73824846A>G	ENST00000334126.7	-	11	2048	c.1822T>C	c.(1822-1824)Tcc>Ccc	p.S608P	C2CD3_ENST00000313663.7_Missense_Mutation_p.S608P			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	608					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTTTACTGGAGGCGAGTCGA	0.393																																					p.S608P		.											.	C2CD3	75	0			c.T1822C						.						129.0	126.0	127.0					11																	73824846		2200	4293	6493	SO:0001583	missense	26005	exon11			TACTGGAGGCGAG	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1822T>C	11.37:g.73824846A>G	ENSP00000334379:p.Ser608Pro	90.0	0.0		76.0	5.0	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	A	23.6	4.431412	0.83776	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.19105	2.17;2.23	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);	0.062950	0.64402	D	0.000003	T	0.45558	0.1348	M	0.71581	2.175	0.39755	D	0.971948	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.50583	-0.8811	10	0.87932	D	0	-10.2501	13.4225	0.61007	1.0:0.0:0.0:0.0	.	608;608	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	P	608	ENSP00000334379:S608P;ENSP00000323339:S608P	ENSP00000323339:S608P	S	-	1	0	C2CD3	73502494	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.086000	0.76885	1.996000	0.58369	0.374000	0.22700	TCC	.		0.393	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
C2orf16	84226	hgsc.bcm.edu;bcgsc.ca	37	2	27802654	27802654	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:27802654T>C	ENST00000408964.2	+	1	3266	c.3215T>C	c.(3214-3216)cTt>cCt	p.L1072P	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1072						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCAAATTATCTTTCCCAGGCC	0.443																																					p.L1072P		.											.	C2orf16	67	0			c.T3215C						.						121.0	121.0	121.0					2																	27802654		1913	4135	6048	SO:0001583	missense	84226	exon1			ATTATCTTTCCCA	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3215T>C	2.37:g.27802654T>C	ENSP00000386190:p.Leu1072Pro	142.0	0.0		108.0	5.0	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	8.403	0.842421	0.16963	.	.	ENSG00000221843	ENST00000408964	T	0.15139	2.45	5.12	1.46	0.22682	.	.	.	.	.	T	0.12390	0.0301	L	0.29908	0.895	0.09310	N	0.999994	B	0.19073	0.033	B	0.22601	0.04	T	0.29305	-1.0016	9	0.87932	D	0	.	6.168	0.20400	0.0:0.3087:0.0:0.6912	.	1072	Q68DN1	CB016_HUMAN	P	1072	ENSP00000386190:L1072P	ENSP00000386190:L1072P	L	+	2	0	C2orf16	27656158	0.003000	0.15002	0.006000	0.13384	0.010000	0.07245	1.089000	0.30890	0.290000	0.22444	0.260000	0.18958	CTT	.		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	hgsc.bcm.edu;bcgsc.ca	37	2	27803186	27803186	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:27803186A>G	ENST00000408964.2	+	1	3798	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1249						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAAACTAGAGCACCTGGGC	0.473																																					p.R1249R		.											.	C2orf16	67	0			c.A3747G						.						109.0	108.0	108.0					2																	27803186		1867	4116	5983	SO:0001819	synonymous_variant	84226	exon1			AACTAGAGCACCT	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3747A>G	2.37:g.27803186A>G		161.0	0.0		116.0	5.0	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																			.		0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C6orf211	79624	hgsc.bcm.edu;bcgsc.ca	37	6	151789976	151789976	+	Missense_Mutation	SNP	T	T	C	rs140306203	byFrequency	TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:151789976T>C	ENST00000367294.3	+	5	1316	c.1057T>C	c.(1057-1059)Tat>Cat	p.Y353H	C6orf211_ENST00000545879.1_Missense_Mutation_p.Y234H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	353										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACCTGACTTATATGCTGAACT	0.378													T|||	3	0.000599042	0.0	0.0014	5008	,	,		20697	0.0		0.0	False		,,,				2504	0.002				p.Y353H		.											.	C6orf211	90	0			c.T1057C						.	T	HIS/TYR	1,4405	2.1+/-5.4	0,1,2202	100.0	100.0	100.0		1057	2.5	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C6orf211	NM_024573.1	83	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	possibly-damaging	353/442	151789976	2,13004	2203	4300	6503	SO:0001583	missense	79624	exon5			GACTTATATGCTG	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1057T>C	6.37:g.151789976T>C	ENSP00000356263:p.Tyr353His	202.0	0.0		93.0	4.0	NM_024573	Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	19.48	3.834680	0.71373	2.27E-4	1.16E-4	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.08008	3.14;3.14	6.16	2.53	0.30540	Domain of unknown function DUF89 (2);	0.055464	0.85682	N	0.000000	T	0.06325	0.0163	M	0.71296	2.17	0.58432	D	0.999999	B	0.34181	0.44	B	0.41202	0.35	T	0.10451	-1.0629	10	0.36615	T	0.2	.	10.4278	0.44389	0.0:0.1652:0.0:0.8348	.	353	Q9H993	CF211_HUMAN	H	353;234	ENSP00000356263:Y353H;ENSP00000444121:Y234H	ENSP00000356263:Y353H	Y	+	1	0	C6orf211	151831669	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	2.304000	0.43655	0.212000	0.20703	0.528000	0.53228	TAT	T|1.000;C|0.000		0.378	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
C7orf25	79020	hgsc.bcm.edu;bcgsc.ca	37	7	42950513	42950513	+	5'UTR	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:42950513T>C	ENST00000350427.4	-	0	262				C7orf25_ENST00000431882.2_Missense_Mutation_p.N54S|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_5'UTR|C7orf25_ENST00000438029.1_5'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25											endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GTCAGCATTATTCCTTTCCTA	0.388																																					p.N54S		.											.	C7orf25	69	0			c.A161G						.						91.0	89.0	90.0					7																	42950513		2202	4300	6502	SO:0001623	5_prime_UTR_variant	79020	exon2			GCATTATTCCTTT	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.-14A>G	7.37:g.42950513T>C		103.0	0.0		70.0	4.0	NM_001099858	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457279	0.43634	.	.	ENSG00000136197	ENST00000431882;ENST00000421724	T	0.39592	1.07	5.42	5.42	0.78866	.	.	.	.	.	T	0.24774	0.0601	N	0.08118	0	0.80722	D	1	B	0.18741	0.03	B	0.15870	0.014	T	0.07829	-1.0752	9	0.20519	T	0.43	.	15.4811	0.75528	0.0:0.0:0.0:1.0	.	54	B4DQM3	.	S	54;10	ENSP00000416290:N54S	ENSP00000395817:N10S	N	-	2	0	C7orf25	42917038	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	3.455000	0.52993	2.064000	0.61679	0.459000	0.35465	AAT	.		0.388	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
C9orf72	203228	hgsc.bcm.edu;bcgsc.ca	37	9	27556627	27556627	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:27556627T>C	ENST00000380003.3	-	8	1086	c.1023A>G	c.(1021-1023)agA>agG	p.R341R	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	341					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CTGAAGTGGCTCTCCAGAAGG	0.448																																					p.R341R		.											.	C9orf72	517	0			c.A1023G						.						154.0	141.0	145.0					9																	27556627		2203	4300	6503	SO:0001819	synonymous_variant	203228	exon8			AGTGGCTCTCCAG	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1023A>G	9.37:g.27556627T>C		208.0	0.0		119.0	5.0	NM_018325	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	CCDS6522.1																																																																																			.		0.448	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325	
CAMTA2	23125	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	4883056	4883056	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:4883056T>C	ENST00000348066.3	-	9	1684	c.1561A>G	c.(1561-1563)Atc>Gtc	p.I521V	CAMTA2_ENST00000358183.4_Missense_Mutation_p.I521V|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000381311.5_Missense_Mutation_p.I523V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.I526V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.I544V|CAMTA2_ENST00000361571.5_Missense_Mutation_p.I520V	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	521					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGCAGGGATGCTTGGAGCT	0.557																																					p.I544V		.											.	CAMTA2	91	0			c.A1630G						.						132.0	131.0	131.0					17																	4883056		2203	4300	6503	SO:0001583	missense	23125	exon9			CAGGGATGCTTGG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1561A>G	17.37:g.4883056T>C	ENSP00000321813:p.Ile521Val	91.0	0.0		42.0	4.0	NM_001171167	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	3.368	-0.129134	0.06753	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.31247	2.71;1.73;1.5;1.73;1.51	4.79	-3.37	0.04898	.	0.844005	0.10161	N	0.708334	T	0.09862	0.0242	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.34179	-0.9839	10	0.15499	T	0.54	-1.43	4.7504	0.13057	0.1368:0.5329:0.1394:0.1909	.	497;544;523;521;520	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	V	544;523;520;521;521	ENSP00000412886:I544V;ENSP00000370712:I523V;ENSP00000354828:I520V;ENSP00000350910:I521V;ENSP00000321813:I521V	ENSP00000321813:I521V	I	-	1	0	CAMTA2	4823780	0.000000	0.05858	0.162000	0.22713	0.726000	0.41606	-0.646000	0.05403	-0.476000	0.06842	0.533000	0.62120	ATC	.		0.557	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099	
CASS4	57091	hgsc.bcm.edu;bcgsc.ca	37	20	55025710	55025710	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr20:55025710T>C	ENST00000360314.3	+	5	842	c.617T>C	c.(616-618)cTc>cCc	p.L206P	CASS4_ENST00000371336.3_Missense_Mutation_p.L206P|CASS4_ENST00000434344.1_Missense_Mutation_p.L206P	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	206					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGGCAGGACTCCATCCCCCA	0.483																																					p.L206P		.											.	CASS4	25	0			c.T617C						.						96.0	71.0	80.0					20																	55025710		2203	4300	6503	SO:0001583	missense	57091	exon4			CAGGACTCCATCC	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.617T>C	20.37:g.55025710T>C	ENSP00000353462:p.Leu206Pro	120.0	0.0		91.0	5.0	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	T	9.102	1.004418	0.19199	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.20881	2.54;2.54;2.04	4.99	1.41	0.22369	.	1.471490	0.04517	N	0.383859	T	0.38374	0.1038	M	0.63428	1.95	0.18873	N	0.999989	D;D;D;B	0.71674	0.991;0.994;0.998;0.016	P;P;D;B	0.63381	0.556;0.906;0.914;0.008	T	0.09228	-1.0684	10	0.34782	T	0.22	-1.8146	5.496	0.16804	0.0:0.0939:0.3955:0.5106	.	152;206;206;206	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	P	206	ENSP00000353462:L206P;ENSP00000360387:L206P;ENSP00000410027:L206P	ENSP00000353462:L206P	L	+	2	0	CASS4	54459117	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.145000	0.16157	0.062000	0.16340	0.533000	0.62120	CTC	.		0.483	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
CCDC180	100499483	hgsc.bcm.edu;bcgsc.ca	37	9	100074426	100074426	+	Silent	SNP	C	C	A	rs377165805		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:100074426C>A	ENST00000357054.1	+	18	1776	c.841C>A	c.(841-843)Cga>Aga	p.R281R	CCDC180_ENST00000395220.1_Silent_p.R281R|CCDC180_ENST00000411667.2_Silent_p.R142R|CCDC180_ENST00000375202.2_Silent_p.R142R|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.R142R|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	281						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGAAAAAGCCCGAGAGAGTGA	0.557																																					p.R142R		.											.	.	.	0			c.C424A						.						120.0	122.0	121.0					9																	100074426		2203	4300	6503	SO:0001819	synonymous_variant	0	exon4			AAAGCCCGAGAGA	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.841C>A	9.37:g.100074426C>A		95.0	0.0		73.0	4.0	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																				.		0.557	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
CCDC24	149473	hgsc.bcm.edu;bcgsc.ca	37	1	44461509	44461509	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:44461509T>C	ENST00000372318.3	+	8	853	c.682T>C	c.(682-684)Tgt>Cgt	p.C228R	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	228										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGGGCCTTCTTGTGTCTCTCC	0.537																																					p.C228R		.											.	CCDC24	90	0			c.T682C						.						113.0	114.0	114.0					1																	44461509		2203	4300	6503	SO:0001583	missense	149473	exon8			CCTTCTTGTGTCT		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.682T>C	1.37:g.44461509T>C	ENSP00000361392:p.Cys228Arg	116.0	0.0		86.0	4.0	NM_152499	Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	CCDS507.1	.	.	.	.	.	.	.	.	.	.	T	9.357	1.067077	0.20067	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.03	1.11	0.20524	.	1.266720	0.05585	N	0.573587	T	0.34890	0.0913	L	0.54323	1.7	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.001;0.005	T	0.22312	-1.0220	9	0.23302	T	0.38	-11.2091	3.2879	0.06939	0.1736:0.2214:0.0:0.605	.	192;228	Q8N4L8-2;Q8N4L8	.;CCD24_HUMAN	R	228	.	ENSP00000361392:C228R	C	+	1	0	CCDC24	44234096	0.000000	0.05858	0.001000	0.08648	0.790000	0.44656	-1.005000	0.03674	0.337000	0.23665	0.421000	0.28195	TGT	.		0.537	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499	
CCER1	196477	hgsc.bcm.edu;ucsc.edu	37	12	91348403	91348403	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:91348403A>G	ENST00000358859.2	-	1	550	c.117T>C	c.(115-117)caT>caC	p.H39H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	39																	GGCGCCTTCGATGGCAGGACG	0.662																																					p.H39H		.											.	.	.	0			c.T117C						.						21.0	20.0	20.0					12																	91348403		2203	4300	6503	SO:0001819	synonymous_variant	196477	exon1			CCTTCGATGGCAG	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.117T>C	12.37:g.91348403A>G		34.0	0.0		47.0	5.0	NM_152638	Q8TC47	Silent	SNP	ENST00000358859.2	37	CCDS9036.1																																																																																			.		0.662	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
CCM2	83605	hgsc.bcm.edu;bcgsc.ca	37	7	45077891	45077891	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:45077891G>T	ENST00000258781.6	+	2	219	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Missense_Mutation_p.G45C|CCM2_ENST00000544363.1_Missense_Mutation_p.G24C|CCM2_ENST00000475551.1_Missense_Mutation_p.G18C|CCM2_ENST00000474617.1_Missense_Mutation_p.G18C|CCM2_ENST00000541586.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	24					blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATTCCTAAAAGGTGAAAAGAG	0.468																																					p.G45C		.											.	CCM2	90	0			c.G133T						.						89.0	88.0	88.0					7																	45077891		2203	4300	6503	SO:0001583	missense	83605	exon2			CTAAAAGGTGAAA	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.70G>T	7.37:g.45077891G>T	ENSP00000258781:p.Gly24Cys	93.0	0.0		71.0	4.0	NM_001029835	A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625189	0.66901	.	.	ENSG00000136280	ENST00000258781;ENST00000544363;ENST00000543541;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;1.0;1.0	T	0.74090	-0.3777	10	0.87932	D	0	-18.6522	18.3739	0.90428	0.0:0.0:1.0:0.0	.	45;45;24;24	B7Z5A6;E9PDJ3;F5H0E1;Q9BSQ5	.;.;.;CCM2_HUMAN	C	24;24;24;18;45;18	ENSP00000258781:G24C;ENSP00000438035:G24C;ENSP00000417180:G18C;ENSP00000370503:G45C;ENSP00000419474:G18C	ENSP00000258781:G24C	G	+	1	0	CCM2	45044416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.277000	0.95755	2.696000	0.92011	0.655000	0.94253	GGT	.		0.468	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443	
CCR10	2826	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	40831707	40831707	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:40831707C>T	ENST00000332438.4	-	2	972	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CNTNAP1_ENST00000264638.4_5'Flank|PLEKHH3_ENST00000293349.6_5'Flank|PLEKHH3_ENST00000412503.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000591022.1_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.R96H	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	318					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGTCCTGGCGGAAGCGCAG	0.701																																					p.R318H		.											.	CCR10	522	0			c.G953A						.						13.0	13.0	13.0					17																	40831707		2174	4252	6426	SO:0001583	missense	2826	exon2			TCCTGGCGGAAGC	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.953G>A	17.37:g.40831707C>T	ENSP00000332504:p.Arg318His	59.0	0.0		63.0	20.0	NM_016602	Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790650	0.90367	.	.	ENSG00000184451	ENST00000332438	T	0.58358	0.34	4.22	4.22	0.49857	.	0.000000	0.40064	N	0.001189	T	0.53578	0.1805	N	0.08118	0	0.50039	D	0.999841	D	0.89917	1.0	D	0.85130	0.997	T	0.65500	-0.6153	10	0.87932	D	0	.	15.5224	0.75875	0.0:1.0:0.0:0.0	.	318	P46092	CCR10_HUMAN	H	318	ENSP00000332504:R318H	ENSP00000332504:R318H	R	-	2	0	CCR10	38085233	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.516000	0.67055	2.185000	0.69588	0.313000	0.20887	CGC	.		0.701	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602	
CDC45	8318	hgsc.bcm.edu;bcgsc.ca	37	22	19502321	19502321	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr22:19502321C>T	ENST00000407835.1	+	15	1523	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	CDC45_ENST00000437685.2_Silent_p.L455L|CDC45_ENST00000263201.1_Silent_p.L423L|CDC45_ENST00000404724.3_Silent_p.L377L			O75419	CDC45_HUMAN	cell division cycle 45	423					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CAAGAAGCAGCTGCGAGCCAC	0.572																																					p.L455L		.											.	CDC45	227	0			c.C1363T						.						109.0	93.0	99.0					22																	19502321		2203	4300	6503	SO:0001819	synonymous_variant	8318	exon15			AAGCAGCTGCGAG	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1267C>T	22.37:g.19502321C>T		74.0	0.0		59.0	4.0	NM_001178010	B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	CCDS13762.1																																																																																			.		0.572	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504	
CDH18	1016	hgsc.bcm.edu;bcgsc.ca	37	5	19544066	19544066	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:19544066A>G	ENST00000507958.1	-	11	2292	c.1302T>C	c.(1300-1302)gaT>gaC	p.D434D	CDH18_ENST00000511273.1_Silent_p.D434D|CDH18_ENST00000502796.1_Silent_p.D434D|CDH18_ENST00000506372.1_Silent_p.D434D|CDH18_ENST00000382275.1_Silent_p.D434D|CDH18_ENST00000274170.4_Silent_p.D434D			Q13634	CAD18_HUMAN	cadherin 18, type 2	434	Cadherin 4. {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)			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)					CAGTATTGGCATCAATGTTGA	0.343																																					p.D434D		.											.	CDH18	159	0			c.T1302C						.						124.0	117.0	119.0					5																	19544066		2203	4300	6503	SO:0001819	synonymous_variant	1016	exon9			ATTGGCATCAATG	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.1302T>C	5.37:g.19544066A>G		169.0	0.0		114.0	6.0	NM_001167667	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																			.		0.343	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDK5RAP2	55755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	123156882	123156882	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:123156882T>A	ENST00000349780.4	-	36	5665	c.5486A>T	c.(5485-5487)cAt>cTt	p.H1829L	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1750L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1797L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1788L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1829	Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAATTTTTTATGTAGTTTGGT	0.348																																					p.H1829L		.											.	CDK5RAP2	229	0			c.A5486T						.						146.0	133.0	138.0					9																	123156882		2203	4300	6503	SO:0001583	missense	55755	exon36			TTTTTATGTAGTT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5486A>T	9.37:g.123156882T>A	ENSP00000343818:p.His1829Leu	319.0	0.0		252.0	35.0	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.008474	0.35415	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.23348	3.89;3.81;3.9;3.81;2.22;1.91	5.39	3.04	0.35103	.	0.578085	0.16911	N	0.194491	T	0.36082	0.0954	M	0.67953	2.075	0.30138	N	0.804181	P;B;P;P;P	0.47762	0.589;0.279;0.9;0.483;0.763	B;B;P;B;B	0.53185	0.114;0.124;0.72;0.058;0.229	T	0.33523	-0.9865	10	0.72032	D	0.01	.	5.7886	0.18347	0.0:0.2872:0.0:0.7128	.	839;1797;1750;1829;1223	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	L	1797;1788;1829;1750;1223;839;1601	ENSP00000354065:H1797L;ENSP00000352258:H1788L;ENSP00000343818:H1829L;ENSP00000353317:H1750L;ENSP00000400395:H1223L;ENSP00000409941:H839L	ENSP00000341695:H1601L	H	-	2	0	CDK5RAP2	122196703	0.734000	0.28142	0.490000	0.27465	0.491000	0.33493	0.229000	0.17833	0.869000	0.35703	0.533000	0.62120	CAT	.		0.348	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
CEP63	80254	hgsc.bcm.edu;bcgsc.ca	37	3	134270790	134270790	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:134270790C>T	ENST00000337090.3	+	12	1576	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	CEP63_ENST00000354446.3_Missense_Mutation_p.S422L|CEP63_ENST00000383229.3_Missense_Mutation_p.S468L|CEP63_ENST00000606977.1_Missense_Mutation_p.S468L|CEP63_ENST00000513612.2_Missense_Mutation_p.S468L|CEP63_ENST00000332047.5_Missense_Mutation_p.S422L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	468					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGCTGGAGTCACTCAAATTA	0.308																																					p.S468L		.											.	CEP63	493	0			c.C1403T						.						82.0	93.0	89.0					3																	134270790		2203	4296	6499	SO:0001583	missense	80254	exon13			TGGAGTCACTCAA	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1403C>T	3.37:g.134270790C>T	ENSP00000336524:p.Ser468Leu	83.0	0.0		93.0	4.0	NM_025180	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.77|15.77	2.932417|2.932417	0.52866|0.52866	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000504929|ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612;ENST00000514678	.|T;T;T;T;T;T	.|0.32515	.|1.52;1.91;2.27;1.54;2.27;1.45	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.148621	.|0.42821	.|D	.|0.000660	T|T	0.43523|0.43523	0.1251|0.1251	L|L	0.54323|0.54323	1.7|1.7	0.34030|0.34030	D|D	0.653712|0.653712	.|D;B;P;B	.|0.57899	.|0.981;0.034;0.825;0.16	.|P;B;B;B	.|0.54026	.|0.74;0.023;0.175;0.088	T|T	0.53436|0.53436	-0.8439|-0.8439	5|10	.|0.41790	.|T	.|0.15	-3.0335|-3.0335	16.877|16.877	0.86054|0.86054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|468;468;422;422	.|Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	.|CEP63_HUMAN;.;.;.	Y|L	157|422;422;468;468;468;141	.|ENSP00000328382:S422L;ENSP00000346432:S422L;ENSP00000336524:S468L;ENSP00000372716:S468L;ENSP00000426129:S468L;ENSP00000427526:S141L	.|ENSP00000328382:S422L	H|S	+|+	1|2	0|0	CEP63|CEP63	135753480|135753480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.459000|0.459000	0.32528|0.32528	5.075000|5.075000	0.64407|0.64407	2.724000|2.724000	0.93272|0.93272	0.585000|0.585000	0.79938|0.79938	CAC|TCA	.		0.308	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
CFTR	1080	hgsc.bcm.edu;bcgsc.ca	37	7	117232660	117232660	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:117232660T>C	ENST00000003084.6	+	14	2571	c.2439T>C	c.(2437-2439)tcT>tcC	p.S813S	CFTR_ENST00000454343.1_Silent_p.S752S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	813					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAAGGTTATCTCAAGAAACTG	0.418									Cystic Fibrosis																												p.S813S		.											.	CFTR	518	0			c.T2439C						.						56.0	57.0	57.0					7																	117232660		2203	4300	6503	SO:0001819	synonymous_variant	1080	exon14	Familial Cancer Database	CF	GTTATCTCAAGAA	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2439T>C	7.37:g.117232660T>C		83.0	0.0		61.0	4.0	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																			.		0.418	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CHTF8	54921	hgsc.bcm.edu;bcgsc.ca	37	16	69154536	69154536	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:69154536A>G	ENST00000448552.2	-	4	279	c.158T>C	c.(157-159)aTc>aCc	p.I53T	CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.I53T|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000520529.1_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	53					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										ATGCCCCACGATCAGCACAGG	0.522																																					p.I53T		.											.	CHTF8	87	0			c.T158C						.						96.0	95.0	95.0					16																	69154536		1963	4150	6113	SO:0001583	missense	54921	exon4			CCCACGATCAGCA		CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.158T>C	16.37:g.69154536A>G	ENSP00000408367:p.Ile53Thr	90.0	0.0		79.0	4.0	NM_001039690	A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	CCDS42185.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410696	0.42817	.	.	ENSG00000168802	ENST00000448552;ENST00000398235	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.48589	0.1508	L	0.37850	1.14	0.80722	D	1	P	0.34684	0.463	B	0.34180	0.177	T	0.45440	-0.9261	8	0.30078	T	0.28	.	15.2868	0.73833	1.0:0.0:0.0:0.0	.	53	P0CG13	CTF8_HUMAN	T	53	.	ENSP00000381290:I53T	I	-	2	0	CHTF8	67712037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.499000	0.90494	2.144000	0.66660	0.533000	0.62120	ATC	.		0.522	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804	
CISD1	55847	hgsc.bcm.edu;bcgsc.ca	37	10	60047332	60047332	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:60047332T>C	ENST00000333926.5	+	3	465	c.249T>C	c.(247-249)tgT>tgC	p.C83C	CISD1_ENST00000488388.2_3'UTR	NM_018464.4	NP_060934.1	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1	83					regulation of cellular respiration (GO:0043457)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)			breast(1)	1						TCCCATTCTGTGATGGGGCTC	0.388																																					p.C83C		.											.	CISD1	90	0			c.T249C						.						85.0	76.0	79.0					10																	60047332		2203	4300	6503	SO:0001819	synonymous_variant	55847	exon3			ATTCTGTGATGGG	AY960578	CCDS7251.1	10q21.3	2011-01-05	2007-08-10	2007-08-10	ENSG00000122873	ENSG00000122873		"""CDGSH iron sulfur domain containing"""	30880	protein-coding gene	gene with protein product		611932	"""chromosome 10 open reading frame 70"", ""zinc finger, CDGSH-type domain 1"""	C10orf70, ZCD1		17376863, 17584744	Standard	NM_018464		Approved	MDS029, mitoNEET	uc001jkc.5	Q9NZ45	OTTHUMG00000018266	ENST00000333926.5:c.249T>C	10.37:g.60047332T>C		134.0	0.0		99.0	4.0	NM_018464	Q1X902	Silent	SNP	ENST00000333926.5	37	CCDS7251.1																																																																																			.		0.388	CISD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048137.1	NM_018464	
CLASP1	23332	hgsc.bcm.edu;bcgsc.ca	37	2	122205082	122205082	+	Splice_Site	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:122205082A>G	ENST00000263710.4	-	19	2132	c.1743T>C	c.(1741-1743)gcT>gcC	p.A581A	CLASP1_ENST00000545861.1_Splice_Site_p.A349A|CLASP1_ENST00000541859.1_Splice_Site_p.A350A|CLASP1_ENST00000541377.1_Splice_Site_p.A581A|CLASP1_ENST00000409078.3_Splice_Site_p.A581A|CLASP1_ENST00000455322.2_Splice_Site_p.A581A|CLASP1_ENST00000397587.3_Splice_Site_p.A581A	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	581	Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TAACTGTAGAAGCTTTAGTGA	0.383																																					p.A581A		.											.	CLASP1	91	0			c.T1743C						.						33.0	33.0	33.0					2																	122205082		1838	4024	5862	SO:0001630	splice_region_variant	23332	exon19			TGTAGAAGCTTTA	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1742-1T>C	2.37:g.122205082A>G		109.0	0.0		83.0	4.0	NM_001207051	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37																																																																																				.		0.383	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Silent
CNBD1	168975	hgsc.bcm.edu;bcgsc.ca	37	8	88218281	88218281	+	Silent	SNP	A	A	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:88218281A>C	ENST00000518476.1	+	5	543	c.492A>C	c.(490-492)ccA>ccC	p.P164P	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	164										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAACAATTCCAGATTTAACCT	0.373																																					p.P164P		.											.	CNBD1	3	0			c.A492C						.						56.0	55.0	55.0					8																	88218281		1845	4076	5921	SO:0001819	synonymous_variant	168975	exon5			AATTCCAGATTTA	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.492A>C	8.37:g.88218281A>C		63.0	0.0		113.0	5.0	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1																																																																																			.		0.373	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
CNGB1	1258	hgsc.bcm.edu;bcgsc.ca	37	16	57998104	57998104	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:57998104T>C	ENST00000251102.8	-	4	280	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	CNGB1_ENST00000564448.1_Missense_Mutation_p.T74A|CNGB1_ENST00000311183.4_Missense_Mutation_p.T74A	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	74					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCTTGGTCTCTGGAAAA	0.557																																					p.T74A	Colon(156;1293 1853 16336 28962 38659)	.											.	CNGB1	137	0			c.A220G						.						68.0	73.0	72.0					16																	57998104		1899	4114	6013	SO:0001583	missense	1258	exon4			CCTTGGTCTCTGG	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.220A>G	16.37:g.57998104T>C	ENSP00000251102:p.Thr74Ala	83.0	0.0		89.0	4.0	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699215	0.30142	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96587	-4.06;0.92	3.9	3.9	0.45041	.	0.197173	0.25233	N	0.032152	D	0.94321	0.8175	L	0.27053	0.805	0.20821	N	0.999842	D;P	0.56035	0.974;0.884	P;B	0.54499	0.754;0.268	D	0.88495	0.3078	10	0.56958	D	0.05	.	9.4298	0.38604	0.0:0.0:0.0:1.0	.	74;74	Q14028-3;Q14028	.;CNGB1_HUMAN	A	74	ENSP00000251102:T74A;ENSP00000311670:T74A	ENSP00000251102:T74A	T	-	1	0	CNGB1	56555605	0.857000	0.29778	0.998000	0.56505	0.410000	0.31052	1.028000	0.30128	1.998000	0.58463	0.533000	0.62120	ACC	.		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
COBL	23242	hgsc.bcm.edu;bcgsc.ca	37	7	51096495	51096495	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:51096495T>C	ENST00000265136.7	-	10	2463	c.2298A>G	c.(2296-2298)aaA>aaG	p.K766K	COBL_ENST00000395542.2_Silent_p.K848K	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	766					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACTCTCTGACTTTCCCAATGG	0.587																																					p.K766K	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL	95	0			c.A2298G						.						50.0	50.0	50.0					7																	51096495		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon10			TCTGACTTTCCCA	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2298A>G	7.37:g.51096495T>C		150.0	0.0		86.0	5.0	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	0.505	-0.868926	0.02570	.	.	ENSG00000106078	ENST00000457306	.	.	.	5.83	-0.929	0.10444	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.99994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2731	0.15636	0.0:0.2763:0.262:0.4617	.	.	.	.	.	-1	.	.	.	-	.	.	COBL	51063989	0.430000	0.25538	0.000000	0.03702	0.011000	0.07611	-0.022000	0.12480	-0.387000	0.07809	0.533000	0.62120	.	.		0.587	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
COL6A5	256076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	130174346	130174346	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:130174346T>C	ENST00000432398.2	+	37	7120	c.6626T>C	c.(6625-6627)aTt>aCt	p.I2209T	COL6A5_ENST00000265379.6_Missense_Mutation_p.I2209T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2209	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATGGCTTCATTGGCCAAGAA	0.378																																					p.I2209T		.											.	.	.	0			c.T6626C						.						43.0	43.0	43.0					3																	130174346		1807	4068	5875	SO:0001583	missense	256076	exon37			GCTTCATTGGCCA	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6626T>C	3.37:g.130174346T>C	ENSP00000390895:p.Ile2209Thr	301.0	0.0		277.0	38.0	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	T	3.259	-0.151527	0.06585	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.90324	-2.56;-2.65;-1.06;-0.91	4.38	0.641	0.17759	.	1.544370	0.04444	N	0.371447	D	0.84000	0.5376	L	0.44542	1.39	0.09310	N	1	B;B	0.15473	0.008;0.013	B;B	0.19391	0.011;0.025	T	0.64968	-0.6282	10	0.07482	T	0.82	.	3.6008	0.08024	0.0:0.2095:0.1963:0.5943	.	2209;2209	A8TX70;A8TX70-2	CO6A5_HUMAN;.	T	2209;2209;152;44	ENSP00000390895:I2209T;ENSP00000265379:I2209T;ENSP00000362250:I152T;ENSP00000424968:I44T	ENSP00000265379:I2209T	I	+	2	0	COL6A5	131657036	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.018000	0.12568	0.022000	0.15160	-0.299000	0.09455	ATT	.		0.378	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
CTCF	10664	hgsc.bcm.edu;bcgsc.ca	37	16	67644896	67644896	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:67644896T>C	ENST00000264010.4	+	3	605	c.161T>C	c.(160-162)gTc>gCc	p.V54A	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	54					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTCCAGGATGTCAACAGCAGT	0.557																																					p.V54A	Colon(175;1200 1966 6945 23069 27405)	.											.	CTCF	91	0			c.T161C						.						89.0	87.0	88.0					16																	67644896		2198	4300	6498	SO:0001583	missense	10664	exon3			AGGATGTCAACAG	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.161T>C	16.37:g.67644896T>C	ENSP00000264010:p.Val54Ala	80.0	0.0		56.0	4.0	NM_006565	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898288	0.52227	.	.	ENSG00000102974	ENST00000264010	T	0.08984	3.03	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000009	T	0.15003	0.0362	N	0.24115	0.695	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.03413	-1.1039	10	0.49607	T	0.09	-1.9744	15.2015	0.73142	0.0:0.0:0.0:1.0	.	54	P49711	CTCF_HUMAN	A	54	ENSP00000264010:V54A	ENSP00000264010:V54A	V	+	2	0	CTCF	66202397	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.381000	0.44336	2.178000	0.69098	0.533000	0.62120	GTC	.		0.557	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	T	rs28931589|rs121913416		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:41266104G>T	ENST00000349496.5	+	3	381	c.101G>T	c.(100-102)gGa>gTa	p.G34V	CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR). {ECO:0000269|PubMed:10192393}.|G -> R (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|G -> V (in hepatoblastoma; dbSNP:rs28931589). {ECO:0000269|PubMed:9927029}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGGACTCTGGAATCCATTCT	0.488	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.G34V	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,gallbladder,other,0	CTNNB1	24361	276	Substitution - Missense(145)|Deletion - In frame(105)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(146)|endometrium(30)|large_intestine(27)|stomach(21)|central_nervous_system(20)|skin(8)|pancreas(8)|ovary(6)|small_intestine(2)|lung(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|pituitary(1)|prostate(1)|bone(1)	c.G101T						.						93.0	78.0	83.0					3																	41266104		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ACTCTGGAATCCA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.101G>T	3.37:g.41266104G>T	ENSP00000344456:p.Gly34Val	260.0	1.0		209.0	13.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450603	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-31.2232	19.9596	0.97236	0.0:0.0:1.0:0.0	rs28931589	34	P35222	CTNB1_HUMAN	V	27;34;34;34;34;27;34;34;34	ENSP00000400508:G27V;ENSP00000385604:G34V;ENSP00000412219:G34V;ENSP00000379486:G34V;ENSP00000344456:G34V;ENSP00000411226:G27V;ENSP00000379488:G34V;ENSP00000409302:G34V;ENSP00000401599:G34V	ENSP00000344456:G34V	G	+	2	0	CTNNB1	41241108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GGA	G|1.000;T|0.000		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CXADR	1525	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	18933790	18933790	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr21:18933790A>G	ENST00000284878.7	+	6	1577	c.829A>G	c.(829-831)Atc>Gtc	p.I277V	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.I277V|CXADR_ENST00000306618.10_Missense_Mutation_p.I236V	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TCATCACGATATCAGGTAATT	0.363																																					p.I277V		.											.	CXADR	227	0			c.A829G						.						71.0	70.0	71.0					21																	18933790		2203	4300	6503	SO:0001583	missense	1525	exon6			CACGATATCAGGT	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.829A>G	21.37:g.18933790A>G	ENSP00000284878:p.Ile277Val	240.0	0.0		179.0	11.0	NM_001207066	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983826	0.74474	.	.	ENSG00000154639	ENST00000284878;ENST00000400169;ENST00000306618	T;T;D	0.91237	-1.23;-1.26;-2.81	4.49	4.49	0.54785	.	0.045406	0.85682	D	0.000000	D	0.93966	0.8068	M	0.82517	2.595	0.53688	D	0.999978	D;D	0.65815	0.992;0.995	P;P	0.59761	0.729;0.863	D	0.93084	0.6494	10	0.30854	T	0.27	.	13.2808	0.60212	1.0:0.0:0.0:0.0	.	277;277	B7WPI3;P78310	.;CXAR_HUMAN	V	277;277;236	ENSP00000284878:I277V;ENSP00000383033:I277V;ENSP00000303395:I236V	ENSP00000284878:I277V	I	+	1	0	CXADR	17855661	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.030000	0.88816	1.799000	0.52666	0.482000	0.46254	ATC	.		0.363	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1		
CYB5RL	606495	hgsc.bcm.edu;bcgsc.ca	37	1	54640392	54640392	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:54640392T>C	ENST00000534324.1	-	6	847	c.848A>G	c.(847-849)aAg>aGg	p.K283R	CYB5RL_ENST00000537208.1_Missense_Mutation_p.K215R|CYB5RL_ENST00000287899.8_Missense_Mutation_p.K215R|CYB5RL_ENST00000401046.3_Missense_Mutation_p.K135R|CYB5RL_ENST00000419823.2_Missense_Mutation_p.K283R|RP11-446E24.4_ENST00000525949.1_5'Flank|AL357673.1_ENST00000536061.1_5'Flank|CYB5RL_ENST00000542737.1_Missense_Mutation_p.K283R|RP11-446E24.4_ENST00000311841.7_Intron			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	283							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGCGAATGGCTTTCTCCGACA	0.542																																					p.K283R		.											.	.	.	0			c.A848G						.						42.0	44.0	43.0					1																	54640392		1948	4167	6115	SO:0001583	missense	606495	exon8			AATGGCTTTCTCC		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.848A>G	1.37:g.54640392T>C	ENSP00000434343:p.Lys283Arg	62.0	0.0		41.0	4.0	NM_001031672	B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.707564	0.30322	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.15;-2.18;-2.15	5.14	2.79	0.32731	Oxidoreductase FAD/NAD(P)-binding (1);	0.176073	0.26446	N	0.024325	T	0.80204	0.4580	L	0.39397	1.21	0.32899	D	0.512984	B;B	0.15141	0.012;0.003	B;B	0.17433	0.018;0.006	T	0.76440	-0.2958	10	0.49607	T	0.09	-24.5527	8.26	0.31779	0.0:0.1568:0.0:0.8432	.	283;135	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	R	283;135;283;215;283;215	ENSP00000409075:K283R;ENSP00000383825:K135R;ENSP00000434343:K283R;ENSP00000287899:K215R;ENSP00000438151:K283R;ENSP00000443797:K215R	ENSP00000287899:K215R	K	-	2	0	CYB5RL	54412980	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	0.780000	0.26760	0.411000	0.25702	0.454000	0.30748	AAG	.		0.542	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672	
DACH2	117154	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	X	86069720	86069720	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:86069720A>G	ENST00000373125.4	+	10	1567	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	DACH2_ENST00000373131.1_Missense_Mutation_p.K510E|DACH2_ENST00000510272.1_Missense_Mutation_p.K304E|DACH2_ENST00000508860.1_Missense_Mutation_p.K356E	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	523	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAGAAGGAGAAAAAAACCAA	0.428																																					p.K523E		.											.	DACH2	136	0			c.A1567G						.						58.0	55.0	56.0					X																	86069720		2203	4300	6503	SO:0001583	missense	117154	exon10			AAGGAGAAAAAAA	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1567A>G	X.37:g.86069720A>G	ENSP00000362217:p.Lys523Glu	41.0	0.0		46.0	4.0	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970788	0.74246	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88741	-2.37;-2.42	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000001	D	0.93416	0.7900	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.87578	0.998;0.998;0.991;0.989	D	0.93778	0.7081	10	0.62326	D	0.03	.	13.4743	0.61299	1.0:0.0:0.0:0.0	.	389;523;510;523	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	E	523;510;523;356;304;356;188	ENSP00000362223:K510E;ENSP00000362217:K523E	ENSP00000345134:K523E	K	+	1	0	DACH2	85956376	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	8.793000	0.91862	1.553000	0.49476	0.339000	0.21740	AAA	.		0.428	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
DCDC1	341019	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	30900222	30900222	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:30900222G>C	ENST00000597505.1	-	36	5260	c.5261C>G	c.(5260-5262)gCc>gGc	p.A1754G				P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCGGATTCTGGCATAATTTGC	0.393																																					p.A861G		.											.	DCDC5	23	0			c.C2582G						.						96.0	92.0	93.0					11																	30900222		1937	4136	6073	SO:0001583	missense	100506627	exon19			ATTCTGGCATAAT	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.5261C>G	11.37:g.30900222G>C	ENSP00000472625:p.Ala1754Gly	90.0	0.0		95.0	39.0	NM_020869	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37																																																																																				.		0.393	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
DDB1	1642	hgsc.bcm.edu;bcgsc.ca	37	11	61097525	61097525	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:61097525A>G	ENST00000301764.7	-	3	629	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	78	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCAAGATAAACAGCAGGTCC	0.453								Nucleotide excision repair (NER)																													p.F78L		.											.	DDB1	661	0			c.T232C						.						108.0	95.0	99.0					11																	61097525		2203	4299	6502	SO:0001583	missense	1642	exon3			AGATAAACAGCAG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.232T>C	11.37:g.61097525A>G	ENSP00000301764:p.Phe78Leu	141.0	0.0		142.0	6.0	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	A	33	5.197625	0.94997	.	.	ENSG00000167986	ENST00000301764;ENST00000539426;ENST00000535283;ENST00000542337;ENST00000543627	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.968;0.998	P;D	0.68192	0.691;0.956	T	0.59963	-0.7355	10	0.30854	T	0.27	-16.3001	14.6448	0.68754	1.0:0.0:0.0:0.0	.	78;78	B7Z2A1;Q16531	.;DDB1_HUMAN	L	78;22;22;78;78	ENSP00000301764:F78L;ENSP00000445554:F22L;ENSP00000441825:F22L;ENSP00000444105:F78L	ENSP00000301764:F78L	F	-	1	0	DDB1	60854101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.095000	0.94175	1.914000	0.55421	0.460000	0.39030	TTT	.		0.453	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
DENND5B	160518	hgsc.bcm.edu;bcgsc.ca	37	12	31605207	31605207	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:31605207T>C	ENST00000389082.5	-	5	1560	c.1296A>G	c.(1294-1296)aaA>aaG	p.K432K	DENND5B_ENST00000354285.4_Silent_p.K454K|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Silent_p.K467K|DENND5B_ENST00000536562.1_Silent_p.K467K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	432					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGCCGTTCTTTTTGTCATTGA	0.458																																					p.K432K		.											.	DENND5B	24	0			c.A1296G						.						142.0	138.0	139.0					12																	31605207		1925	4134	6059	SO:0001819	synonymous_variant	160518	exon5			GTTCTTTTTGTCA	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1296A>G	12.37:g.31605207T>C		144.0	0.0		88.0	4.0	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	CCDS44857.1																																																																																			.		0.458	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
DFNA5	1687	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	24756897	24756897	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:24756897A>G	ENST00000342947.3	-	5	1098	c.673T>C	c.(673-675)Tac>Cac	p.Y225H	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000545231.1_Missense_Mutation_p.Y61H|DFNA5_ENST00000419307.1_Missense_Mutation_p.Y61H|DFNA5_ENST00000409775.3_Missense_Mutation_p.Y225H|DFNA5_ENST00000409970.1_Missense_Mutation_p.Y61H	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	225					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGTTTCACGTATAACTCAATG	0.572																																					p.Y225H	GBM(78;184 1250 20134 20900 23600)	.											.	DFNA5	91	0			c.T673C						.						155.0	113.0	127.0					7																	24756897		2203	4300	6503	SO:0001583	missense	1687	exon5			TCACGTATAACTC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.673T>C	7.37:g.24756897A>G	ENSP00000339587:p.Tyr225His	61.0	0.0		43.0	4.0	NM_001127453	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505486	0.44558	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.7	4.52	0.55395	.	0.492653	0.22491	N	0.059365	T	0.46852	0.1414	M	0.72894	2.215	0.23401	N	0.997759	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.36890	-0.9729	10	0.30854	T	0.27	-14.1664	11.9919	0.53180	0.8547:0.1453:0.0:0.0	.	225;225	A4FTY0;O60443	.;DFNA5_HUMAN	H	225;61;61;61;225	ENSP00000339587:Y225H;ENSP00000401332:Y61H;ENSP00000442661:Y61H;ENSP00000387119:Y61H;ENSP00000386670:Y225H	ENSP00000339587:Y225H	Y	-	1	0	DFNA5	24723422	0.338000	0.24775	0.119000	0.21687	0.295000	0.27426	1.755000	0.38379	0.954000	0.37851	0.533000	0.62120	TAC	.		0.572	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	
DHRS7	51635	hgsc.bcm.edu;bcgsc.ca	37	14	60619873	60619873	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr14:60619873A>G	ENST00000216500.5	-	5	872	c.417T>C	c.(415-417)ggT>ggC	p.G139G	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Silent_p.G89G|DHRS7_ENST00000557185.1_Silent_p.G139G|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	139						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GGGACATTCCACCATTGTTGA	0.428																																					p.G139G		.											.	DHRS7	91	0			c.T417C						.						96.0	87.0	90.0					14																	60619873		2203	4300	6503	SO:0001819	synonymous_variant	51635	exon4			CATTCCACCATTG	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.417T>C	14.37:g.60619873A>G		123.0	0.0		102.0	5.0	NM_016029	B2R896|Q9UKU2	Silent	SNP	ENST00000216500.5	37	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	A	4.680	0.126440	0.08931	.	.	ENSG00000100612	ENST00000557751;ENST00000554101	.	.	.	5.95	0.798	0.18660	.	.	.	.	.	T	0.45216	0.1331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	.	3.5656	0.07899	0.4401:0.0:0.1984:0.3614	.	.	.	.	A	7;134	.	.	V	-	2	0	DHRS7	59689626	0.932000	0.31603	0.984000	0.44739	0.402000	0.30811	0.172000	0.16704	-0.090000	0.12462	-0.371000	0.07208	GTG	.		0.428	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029	
DHX36	170506	hgsc.bcm.edu;bcgsc.ca	37	3	153998561	153998561	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:153998561T>C	ENST00000496811.1	-	21	2547	c.2467A>G	c.(2467-2469)Ata>Gta	p.I823V	DHX36_ENST00000329463.5_Missense_Mutation_p.I809V|DHX36_ENST00000308361.6_Missense_Mutation_p.I794V|DHX36_ENST00000544526.1_Missense_Mutation_p.I809V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	823					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCTGAATTTATATTAGATTCT	0.383																																					p.I823V		.											.	DHX36	226	0			c.A2467G						.						100.0	106.0	104.0					3																	153998561		2203	4300	6503	SO:0001583	missense	170506	exon21			AATTTATATTAGA	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2467A>G	3.37:g.153998561T>C	ENSP00000417078:p.Ile823Val	109.0	0.0		88.0	4.0	NM_020865	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704075	0.15172	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03152	4.2;4.11;4.03;4.03;4.19	5.65	4.49	0.54785	Domain of unknown function DUF1605 (1);	0.175651	0.64402	N	0.000011	T	0.02494	0.0076	N	0.11756	0.17	0.38706	D	0.953092	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.50600	-0.8809	10	0.16420	T	0.52	.	11.5378	0.50648	0.0:0.0699:0.0:0.9301	.	809;794;823	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	823;794;809;809;737	ENSP00000417078:I823V;ENSP00000309296:I794V;ENSP00000444247:I809V;ENSP00000330113:I809V;ENSP00000419862:I737V	ENSP00000309296:I794V	I	-	1	0	DHX36	155481255	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	2.773000	0.47686	0.974000	0.38366	0.528000	0.53228	ATA	.		0.383	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
DLG2	1740	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	83173062	83173062	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:83173062A>G	ENST00000532653.1	-	22	2737	c.2435T>C	c.(2434-2436)tTt>tCt	p.F812S	DLG2_ENST00000398309.2_Missense_Mutation_p.F830S|DLG2_ENST00000531015.1_Missense_Mutation_p.F797S|DLG2_ENST00000537455.1_Missense_Mutation_p.F580S|DLG2_ENST00000280241.8_Missense_Mutation_p.F869S|DLG2_ENST00000330014.6_Missense_Mutation_p.F751S|DLG2_ENST00000524982.1_Missense_Mutation_p.F826S|DLG2_ENST00000404783.3_Missense_Mutation_p.F308S|DLG2_ENST00000376106.3_Missense_Mutation_p.F294S|DLG2_ENST00000543673.1_Missense_Mutation_p.F935S|DLG2_ENST00000426717.2_Missense_Mutation_p.F294S|DLG2_ENST00000418306.2_Missense_Mutation_p.F709S|DLG2_ENST00000376104.2_Missense_Mutation_p.F935S			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	536					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATATTCTCCAAATTCTTGTTC	0.413																																					p.F935S		.											.	DLG2	96	0			c.T2804C						.						153.0	146.0	148.0					11																	83173062		1867	4121	5988	SO:0001583	missense	1740	exon27			TCTCCAAATTCTT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2435T>C	11.37:g.83173062A>G	ENSP00000435849:p.Phe812Ser	552.0	0.0		496.0	53.0	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	A	22.3	4.272603	0.80580	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.01	5.01	0.66863	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000001	T	0.67078	0.2855	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.995;1.0;1.0;0.992	D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.978;0.995;0.967;0.999;0.999;0.977	T	0.68557	-0.5377	9	.	.	.	.	14.8932	0.70625	1.0:0.0:0.0:0.0	.	797;812;826;751;308;935;830;709	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	S	830;294;935;709;935;869;308;751;580;294;826;812;935;797	ENSP00000381355:F830S;ENSP00000393049:F294S;ENSP00000365272:F935S;ENSP00000402275:F709S;ENSP00000441994:F935S;ENSP00000280241:F869S;ENSP00000385113:F308S;ENSP00000381353:F751S;ENSP00000443248:F580S;ENSP00000365274:F294S;ENSP00000432894:F826S;ENSP00000435849:F812S;ENSP00000433848:F797S	.	F	-	2	0	DLG2	82850710	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.761000	0.91691	2.106000	0.64143	0.533000	0.62120	TTT	.		0.413	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
DMD	1756	hgsc.bcm.edu;bcgsc.ca	37	X	32366626	32366626	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:32366626T>C	ENST00000357033.4	-	38	5551	c.5345A>G	c.(5344-5346)gAa>gGa	p.E1782G	DMD_ENST00000378677.2_Missense_Mutation_p.E1778G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1782	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCTCCAATTCCTTCAAAGG	0.323																																					p.E1782G		.											.	DMD	265	0			c.A5345G						.						73.0	65.0	68.0					X																	32366626		2202	4298	6500	SO:0001583	missense	1756	exon38			TCCAATTCCTTCA	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5345A>G	X.37:g.32366626T>C	ENSP00000354923:p.Glu1782Gly	106.0	0.0		74.0	5.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088119	0.55968	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	T;T;T	0.62105	0.05;0.06;0.93	5.49	5.49	0.81192	.	0.000000	0.38111	U	0.001819	T	0.61476	0.2350	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.979;0.998;0.998;0.998	D;P;D;D;D	0.78314	0.991;0.702;0.979;0.991;0.991	T	0.65837	-0.6071	10	0.34782	T	0.22	.	14.6635	0.68891	0.0:0.0:0.0:1.0	.	1774;1782;1778;441;438	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	G	1774;441;438;1778;1782;1782;1659;1	ENSP00000367948:E1778G;ENSP00000354923:E1782G;ENSP00000417725:E1G	ENSP00000354923:E1782G	E	-	2	0	DMD	32276547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.332000	0.72934	1.844000	0.53588	0.376000	0.23039	GAA	.		0.323	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DNM1L	10059	hgsc.bcm.edu;bcgsc.ca	37	12	32854462	32854462	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:32854462A>G	ENST00000549701.1	+	2	290	c.216A>G	c.(214-216)caA>caG	p.Q72Q	DNM1L_ENST00000452533.2_Silent_p.Q72Q|DNM1L_ENST00000358214.5_Silent_p.Q72Q|DNM1L_ENST00000266481.6_Silent_p.Q72Q|DNM1L_ENST00000381000.4_Silent_p.Q72Q|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Missense_Mutation_p.K4R|DNM1L_ENST00000547312.1_Silent_p.Q72Q|DNM1L_ENST00000553257.1_Silent_p.Q72Q			O00429	DNM1L_HUMAN	dynamin 1-like	72	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTTTCACAAGAAGATAAAC	0.403																																					p.Q72Q		.											.	DNM1L	92	0			c.A216G						.						85.0	88.0	87.0					12																	32854462		2203	4300	6503	SO:0001819	synonymous_variant	10059	exon2			TTCACAAGAAGAT	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.216A>G	12.37:g.32854462A>G		93.0	0.0		88.0	4.0	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	a	13.25	2.179630	0.38511	.	.	ENSG00000087470	ENST00000414834	T	0.79653	-1.29	5.58	-1.55	0.08558	.	.	.	.	.	T	0.66973	0.2844	.	.	.	0.22317	N	0.999208	B	0.02656	0.0	B	0.01281	0.0	T	0.56456	-0.7976	8	0.87932	D	0	.	3.4462	0.07481	0.4556:0.3351:0.0693:0.1401	.	4	B4DGC9	.	R	4	ENSP00000404160:K4R	ENSP00000404160:K4R	K	+	2	0	DNM1L	32745729	0.442000	0.25633	0.996000	0.52242	0.991000	0.79684	-0.048000	0.11944	-0.174000	0.10743	0.520000	0.50463	AAG	.		0.403	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
DOCK7	85440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	62995054	62995054	+	Silent	SNP	T	T	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:62995054T>G	ENST00000340370.5	-	29	3599	c.3582A>C	c.(3580-3582)tcA>tcC	p.S1194S	DOCK7_ENST00000251157.5_Silent_p.S1225S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1225					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACCGCGGGTCTGAGTCGTGAC	0.403																																					p.S1225S		.											.	DOCK7	92	0			c.A3675C						.						109.0	103.0	105.0					1																	62995054		2203	4300	6503	SO:0001819	synonymous_variant	85440	exon30			CGGGTCTGAGTCG		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3582A>C	1.37:g.62995054T>G		161.0	0.0		119.0	12.0	NM_001271999	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1																																																																																			.		0.403	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DPP3	10072	hgsc.bcm.edu;broad.mit.edu	37	11	66249887	66249887	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:66249887C>T	ENST00000360510.2	+	2	281	c.216C>T	c.(214-216)ccC>ccT	p.P72P	DPP3_ENST00000530165.1_Silent_p.P72P|DPP3_ENST00000531863.1_Silent_p.P92P|CTD-3074O7.5_ENST00000533502.1_RNA|DPP3_ENST00000541961.1_Silent_p.P72P|DPP3_ENST00000453114.1_Silent_p.P72P|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000532677.1_Silent_p.P91P|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	72					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCCAGGACCCCGACCAGCTGC	0.632																																					p.P72P		.											.	DPP3	46	0			c.C216T						.						41.0	43.0	42.0					11																	66249887		2200	4295	6495	SO:0001819	synonymous_variant	10072	exon2			GGACCCCGACCAG	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.216C>T	11.37:g.66249887C>T		30.0	0.0		34.0	4.0	NM_001256670	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	CCDS8141.1																																																																																			.		0.632	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		
DTWD1	56986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	49935632	49935632	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr15:49935632C>T	ENST00000251250.6	+	6	979	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	DTWD1_ENST00000558653.1_Silent_p.L258L|DTWD1_ENST00000415425.1_Silent_p.L171L|DTWD1_ENST00000403028.3_Silent_p.L258L	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	258										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTACTACTTTCTGGTAGACTA	0.323																																					p.L258L		.											.	DTWD1	226	0			c.C772T						.						57.0	63.0	61.0					15																	49935632		2194	4293	6487	SO:0001819	synonymous_variant	56986	exon5			TACTTTCTGGTAG	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.772C>T	15.37:g.49935632C>T		255.0	0.0		220.0	13.0	NM_001144955	Q567Q3|Q8WVG9|Q9NRU6	Silent	SNP	ENST00000251250.6	37	CCDS10132.1																																																																																			.		0.323	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	
ELTD1	64123	hgsc.bcm.edu;bcgsc.ca	37	1	79385900	79385900	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:79385900A>G	ENST00000370742.3	-	10	1492	c.1429T>C	c.(1429-1431)Ttt>Ctt	p.F477L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	477					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCAACAAGAAAAACAAGTTCA	0.328																																					p.F477L		.											.	ELTD1	24	0			c.T1429C						.						87.0	82.0	83.0					1																	79385900		1823	4069	5892	SO:0001583	missense	64123	exon10			CAAGAAAAACAAG	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1429T>C	1.37:g.79385900A>G	ENSP00000359778:p.Phe477Leu	91.0	0.0		75.0	4.0	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631991	0.87660	.	.	ENSG00000162618	ENST00000370742	T	0.44482	0.92	5.01	5.01	0.66863	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.74467	2.265	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.58951	-0.7545	9	.	.	.	.	15.0178	0.71600	1.0:0.0:0.0:0.0	.	477	Q9HBW9	ELTD1_HUMAN	L	477	ENSP00000359778:F477L	.	F	-	1	0	ELTD1	79158488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.255000	0.95524	2.002000	0.58637	0.533000	0.62120	TTT	.		0.328	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
ENGASE	64772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	77075681	77075681	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:77075681G>C	ENST00000579016.1	+	4	527	c.527G>C	c.(526-528)tGg>tCg	p.W176S	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	176						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCAGTGGGCTGGACCAACACT	0.607																																					p.W176S		.											.	ENGASE	91	0			c.G527C						.						90.0	112.0	105.0					17																	77075681		2118	4220	6338	SO:0001583	missense	64772	exon4			TGGGCTGGACCAA	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.527G>C	17.37:g.77075681G>C	ENSP00000462333:p.Trp176Ser	123.0	0.0		124.0	52.0	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409801	0.62399	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.22	5.22	0.72569	Glycoside hydrolase, family 85 (1);	0.057777	0.85682	D	0.000000	D	0.86368	0.5916	M	0.94142	3.5	0.80722	D	1	D;D	0.61080	0.972;0.989	D;D	0.66847	0.929;0.947	D	0.89986	0.4104	9	0.72032	D	0.01	-0.1925	17.3151	0.87221	0.0:0.0:1.0:0.0	.	176;176	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	S	176	.	ENSP00000308158:W176S	W	+	2	0	ENGASE	74587276	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	9.007000	0.93597	2.587000	0.87381	0.655000	0.94253	TGG	.		0.607	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
ERAP1	51752	hgsc.bcm.edu;bcgsc.ca	37	5	96119656	96119656	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:96119656T>C	ENST00000443439.2	-	14	2138	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G	CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.D691G|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	691					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTCATTCATATCTCTTTTCTC	0.308																																					p.D691G		.											.	ERAP1	70	0			c.A2072G						.						88.0	83.0	85.0					5																	96119656		2203	4300	6503	SO:0001583	missense	51752	exon14			TTCATATCTCTTT	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2072A>G	5.37:g.96119656T>C	ENSP00000406304:p.Asp691Gly	110.0	0.0		89.0	4.0	NM_001198541	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309375	0.23821	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06449	3.3;3.3	5.84	5.84	0.93424	.	0.262386	0.42420	D	0.000702	T	0.07954	0.0199	L	0.46614	1.455	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.008;0.003;0.003	T	0.26985	-1.0087	10	0.17369	T	0.5	.	15.1933	0.73063	0.0:0.0:0.0:1.0	.	691;691;691	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	G	691	ENSP00000296754:D691G;ENSP00000406304:D691G	ENSP00000296754:D691G	D	-	2	0	ERAP1	96145412	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.552000	0.60747	2.232000	0.73038	0.533000	0.62120	GAT	.		0.308	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
EXPH5	23086	hgsc.bcm.edu;bcgsc.ca	37	11	108398908	108398908	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:108398908A>G	ENST00000265843.4	-	4	557	c.447T>C	c.(445-447)tgT>tgC	p.C149C	EXPH5_ENST00000443411.1_Intron|EXPH5_ENST00000428840.1_Silent_p.C73C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Silent_p.C142C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	149					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGGCCATCACATCTGTGGA	0.398																																					p.C149C		.											.	EXPH5	95	0			c.T447C						.						88.0	86.0	86.0					11																	108398908		2201	4298	6499	SO:0001819	synonymous_variant	23086	exon4			GCCATCACATCTG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.447T>C	11.37:g.108398908A>G		84.0	0.0		66.0	4.0	NM_015065	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																			.		0.398	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	108464205	108464205	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:108464205T>C	ENST00000265843.4	-	1	169	c.59A>G	c.(58-60)aAg>aGg	p.K20R	EXPH5_ENST00000525344.1_Missense_Mutation_p.K13R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	20	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGAAGGATCTTCCTGGCCTC	0.478																																					p.K20R		.											.	EXPH5	95	0			c.A59G						.						120.0	116.0	117.0					11																	108464205		2201	4298	6499	SO:0001583	missense	23086	exon1			AGGATCTTCCTGG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.59A>G	11.37:g.108464205T>C	ENSP00000265843:p.Lys20Arg	202.0	0.0		199.0	8.0	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062149	0.76187	.	.	ENSG00000110723	ENST00000265843;ENST00000525344	T;T	0.02631	4.22;4.24	5.22	2.73	0.32206	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);	0.440551	0.19410	N	0.114963	T	0.05823	0.0152	L	0.47716	1.5	0.80722	D	1	P	0.50156	0.932	P	0.51135	0.66	T	0.38286	-0.9668	10	0.48119	T	0.1	-6.9512	9.9736	0.41770	0.0:0.0:0.3285:0.6715	.	20	Q8NEV8	EXPH5_HUMAN	R	20;13	ENSP00000265843:K20R;ENSP00000432546:K13R	ENSP00000265843:K20R	K	-	2	0	EXPH5	107969415	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.278000	0.33179	0.257000	0.21650	0.379000	0.24179	AAG	.		0.478	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
FAM131B	9715	hgsc.bcm.edu;bcgsc.ca	37	7	143054115	143054115	+	Splice_Site	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:143054115T>C	ENST00000409408.1	-	6	2235	c.527A>G	c.(526-528)gAt>gGt	p.D176G	FAM131B_ENST00000443739.2_Splice_Site_p.D204G|FAM131B_ENST00000409222.3_Splice_Site_p.D176G|FAM131B_ENST00000409346.1_Splice_Site_p.D176G|FAM131B_ENST00000409578.1_Splice_Site_p.D192G			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	176										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					AGCCAGGGCATCTGGAAAAAG	0.542																																					p.D204G		.											.	FAM131B	90	0			c.A611G						.						35.0	31.0	33.0					7																	143054115		2203	4300	6503	SO:0001630	splice_region_variant	9715	exon7			AGGGCATCTGGAA	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.527-1A>G	7.37:g.143054115T>C		74.0	0.0		74.0	4.0	NM_001031690	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197677	0.58126	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.46	5.46	0.80206	.	0.199172	0.53938	D	0.000058	T	0.33059	0.0850	L	0.59436	1.845	0.52099	D	0.999945	B;P	0.45531	0.16;0.86	B;P	0.44561	0.117;0.453	T	0.12400	-1.0549	10	0.66056	D	0.02	.	15.5417	0.76057	0.0:0.0:0.0:1.0	.	192;176	Q86XD5-2;Q86XD5	.;F131B_HUMAN	G	204;192;176;180;176;176	ENSP00000410603:D204G;ENSP00000386568:D192G;ENSP00000386984:D176G;ENSP00000387017:D176G;ENSP00000387147:D176G	ENSP00000387147:D176G	D	-	2	0	FAM131B	142764237	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.713000	0.47194	2.072000	0.62099	0.533000	0.62120	GAT	.		0.542	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690	Missense_Mutation
FAM160A1	729830	hgsc.bcm.edu;bcgsc.ca	37	4	152571430	152571430	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:152571430C>T	ENST00000505231.1	+	9	2396	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	FAM160A1_ENST00000435205.1_Missense_Mutation_p.P746L			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	746	Glu-rich.									endometrium(2)|kidney(1)	3						GCCGCCCACCCGGAGAGCGAG	0.567																																					p.P746L		.											.	.	.	0			c.C2237T						.						66.0	77.0	74.0					4																	152571430		692	1591	2283	SO:0001583	missense	729830	exon11			CCCACCCGGAGAG		CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.2237C>T	4.37:g.152571430C>T	ENSP00000421580:p.Pro746Leu	87.0	0.0		79.0	4.0	NM_001109977	Q6ZUS2	Missense_Mutation	SNP	ENST00000505231.1	37	CCDS47146.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108568	0.37242	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.11712	2.75;2.75	5.08	4.24	0.50183	.	.	.	.	.	T	0.12732	0.0309	L	0.54323	1.7	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.20273	-1.0280	9	0.21540	T	0.41	.	13.6038	0.62035	0.0:0.9246:0.0:0.0754	.	746	Q05DH4	F16A1_HUMAN	L	746	ENSP00000413196:P746L;ENSP00000421580:P746L	ENSP00000413196:P746L	P	+	2	0	FAM160A1	152790880	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.044000	0.30329	1.268000	0.44264	0.655000	0.94253	CCG	.		0.567	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365691.1	NM_001109977	
FAM221A	340277	ucsc.edu;bcgsc.ca	37	7	23729036	23729036	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:23729036G>A	ENST00000344962.4	+	3	477	c.388G>A	c.(388-390)Gct>Act	p.A130T	FAM221A_ENST00000409653.1_Missense_Mutation_p.A72T|FAM221A_ENST00000409192.3_Missense_Mutation_p.A130T|FAM221A_ENST00000409994.3_Missense_Mutation_p.A72T	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	130																	CAAACACTTTGCTGATCAGCA	0.448																																					p.A130T		.											.	.	.	0			c.G388A						.						81.0	72.0	75.0					7																	23729036		2203	4300	6503	SO:0001583	missense	340277	exon3			CACTTTGCTGATC		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.388G>A	7.37:g.23729036G>A	ENSP00000342576:p.Ala130Thr	50.0	0.0		38.0	4.0	NM_199136	Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671731	0.47781	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.59	5.59	0.84812	.	0.102356	0.64402	D	0.000002	T	0.19406	0.0466	L	0.45228	1.405	0.50039	D	0.999842	P;B;P	0.45715	0.865;0.423;0.598	B;B;P	0.45449	0.421;0.212;0.481	T	0.01800	-1.1271	10	0.05721	T	0.95	-17.5688	19.5929	0.95523	0.0:0.0:1.0:0.0	.	72;130;130	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	T	130;130;72;72	ENSP00000386927:A130T;ENSP00000342576:A130T;ENSP00000386900:A72T;ENSP00000386631:A72T	ENSP00000342576:A130T	A	+	1	0	C7orf46	23695561	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	4.078000	0.57606	2.626000	0.88956	0.591000	0.81541	GCT	.		0.448	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136	
FGF6	2251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	4553334	4553334	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:4553334C>T	ENST00000228837.2	-	2	458	c.415G>A	c.(415-417)Gtt>Att	p.V139I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	139					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.V139I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTCATGGCAACGAAGAGGGCA	0.512																																					p.V139I		.											.	FGF6	659	1	Substitution - Missense(1)	prostate(1)	c.G415A						.						106.0	81.0	89.0					12																	4553334		2203	4300	6503	SO:0001583	missense	2251	exon2			TGGCAACGAAGAG	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.415G>A	12.37:g.4553334C>T	ENSP00000228837:p.Val139Ile	103.0	0.0		95.0	24.0	NM_020996	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	c	8.440	0.850726	0.17034	.	.	ENSG00000111241	ENST00000543077;ENST00000228837	D;T	0.85861	-2.04;1.5	5.63	-3.46	0.04767	.	0.271169	0.41605	N	0.000859	T	0.77198	0.4095	L	0.43923	1.385	0.40032	D	0.975543	B	0.13594	0.008	B	0.17433	0.018	T	0.55786	-0.8086	10	0.42905	T	0.14	.	13.631	0.62196	0.0:0.4678:0.0:0.5322	.	139	P10767	FGF6_HUMAN	I	18;139	ENSP00000445479:V18I;ENSP00000228837:V139I	ENSP00000228837:V139I	V	-	1	0	FGF6	4423595	0.002000	0.14202	0.017000	0.16124	0.633000	0.38033	-1.160000	0.03147	-1.177000	0.02744	-2.144000	0.00337	GTT	.		0.512	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
FHDC1	85462	hgsc.bcm.edu;bcgsc.ca	37	4	153884235	153884235	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:153884235A>G	ENST00000511601.1	+	8	1170	c.982A>G	c.(982-984)Aca>Gca	p.T328A	FHDC1_ENST00000260008.3_Missense_Mutation_p.T328A			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	328	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATTGGCAGACACAAAAGCAAA	0.398																																					p.T328A		.											.	FHDC1	136	0			c.A982G						.						114.0	122.0	119.0					4																	153884235		2203	4300	6503	SO:0001583	missense	85462	exon7			GCAGACACAAAAG	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.982A>G	4.37:g.153884235A>G	ENSP00000427567:p.Thr328Ala	93.0	0.0		68.0	4.0	NM_033393		Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714560	0.89112	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.21361	2.01;2.01	5.43	5.43	0.79202	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66548	-0.5896	10	0.66056	D	0.02	.	15.5039	0.75722	1.0:0.0:0.0:0.0	.	328	Q9C0D6	FHDC1_HUMAN	A	328	ENSP00000427567:T328A;ENSP00000260008:T328A	ENSP00000260008:T328A	T	+	1	0	FHDC1	154103685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.062000	0.61559	0.459000	0.35465	ACA	.		0.398	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
FIGN	55137	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	164467698	164467698	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:164467698T>C	ENST00000333129.3	-	3	958	c.644A>G	c.(643-645)cAt>cGt	p.H215R	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	215	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCCAGAGCTATGCAAAGGAGA	0.532																																					p.H215R		.											.	FIGN	156	0			c.A644G						.						73.0	81.0	78.0					2																	164467698		2053	4201	6254	SO:0001583	missense	55137	exon3			GAGCTATGCAAAG	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.644A>G	2.37:g.164467698T>C	ENSP00000333836:p.His215Arg	193.0	1.0		178.0	50.0	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088519	0.36855	.	.	ENSG00000182263	ENST00000333129	T	0.44881	0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.62723	1.935	0.80722	D	1	B	0.21225	0.053	B	0.19666	0.026	T	0.24693	-1.0153	10	0.36615	T	0.2	-8.5084	16.8222	0.85835	0.0:0.0:0.0:1.0	.	215	Q5HY92	FIGN_HUMAN	R	215	ENSP00000333836:H215R	ENSP00000333836:H215R	H	-	2	0	FIGN	164175944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.102000	0.71486	2.371000	0.80710	0.533000	0.62120	CAT	.		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
FRS2	10818	hgsc.bcm.edu;bcgsc.ca	37	12	69968235	69968235	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:69968235A>G	ENST00000550389.1	+	7	1273	c.1027A>G	c.(1027-1029)Aga>Gga	p.R343G	FRS2_ENST00000397997.2_Missense_Mutation_p.R343G|FRS2_ENST00000549921.1_Missense_Mutation_p.R343G|FRS2_ENST00000299293.2_Missense_Mutation_p.R343G	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	343					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGCTCAGAGAAGAACTGCATT	0.453																																					p.R343G		.											.	FRS2	658	0			c.A1027G						.						66.0	65.0	65.0					12																	69968235		1894	4124	6018	SO:0001583	missense	10818	exon10			CAGAGAAGAACTG	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1027A>G	12.37:g.69968235A>G	ENSP00000447241:p.Arg343Gly	89.0	0.0		64.0	4.0	NM_001042555	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995471	0.54147	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	6.04	6.04	0.98038	.	0.043348	0.85682	D	0.000000	T	0.51753	0.1693	L	0.42245	1.32	0.44771	D	0.997779	D	0.57899	0.981	D	0.67231	0.95	T	0.42085	-0.9472	9	.	.	.	-11.0668	16.6244	0.84952	1.0:0.0:0.0:0.0	.	343	Q8WU20	FRS2_HUMAN	G	343	ENSP00000299293:R343G;ENSP00000450048:R343G;ENSP00000447241:R343G;ENSP00000381083:R343G	.	R	+	1	2	FRS2	68254502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.134000	0.57990	2.323000	0.78572	0.529000	0.55759	AGA	.		0.453	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654	
PSMC5	5705	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	61902423	61902423	+	5'Flank	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:61902423A>G	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Silent_p.T232T|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCTTCTTCTTAGTAACCAATT	0.488																																					p.T232T		.											.	FTSJ3	91	0			c.T696C						.						95.0	102.0	100.0					17																	61902423		2203	4300	6503	SO:0001631	upstream_gene_variant	117246	exon8			CTTCTTAGTAACC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902423A>G	Exception_encountered	98.0	0.0		86.0	5.0	NM_017647	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																			.		0.488	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
FYB	2533	hgsc.bcm.edu;bcgsc.ca	37	5	39130699	39130699	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:39130699T>C	ENST00000351578.6	-	10	2023	c.1833A>G	c.(1831-1833)ggA>ggG	p.G611G	FYB_ENST00000540520.1_Silent_p.G621G|FYB_ENST00000515010.1_Silent_p.G611G|FYB_ENST00000512982.1_Silent_p.G611G|FYB_ENST00000505428.1_Silent_p.G611G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	611					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TACCTCCACTTCCACTCTGAC	0.333																																					p.G621G		.											.	FYB	24	0			c.A1863G						.						77.0	71.0	73.0					5																	39130699		1891	4117	6008	SO:0001819	synonymous_variant	2533	exon10			TCCACTTCCACTC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1833A>G	5.37:g.39130699T>C		72.0	0.0		73.0	5.0	NM_001243093	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																			.		0.333	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
GABRG1	2565	hgsc.bcm.edu;bcgsc.ca	37	4	46067446	46067446	+	Silent	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:46067446G>A	ENST00000295452.4	-	4	644	c.477C>T	c.(475-477)caC>caT	p.H159H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	159					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGTTATCCAGTGAGCATCAG	0.353																																					p.H159H		.											.	GABRG1	92	0			c.C477T						.						97.0	95.0	96.0					4																	46067446		2203	4300	6503	SO:0001819	synonymous_variant	2565	exon4			TATCCAGTGAGCA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.477C>T	4.37:g.46067446G>A		117.0	0.0		77.0	4.0	NM_173536	Q5H9T8	Silent	SNP	ENST00000295452.4	37	CCDS3470.1																																																																																			.		0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
GLG1	2734	hgsc.bcm.edu;bcgsc.ca	37	16	74528672	74528672	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:74528672A>G	ENST00000422840.2	-	6	1035	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P	GLG1_ENST00000447066.2_Missense_Mutation_p.S335P|GLG1_ENST00000205061.5_Missense_Mutation_p.S346P	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	346					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCACTCATGGATTCTTCAAAT	0.343																																					p.S346P		.											.	GLG1	136	0			c.T1036C						.						88.0	87.0	88.0					16																	74528672		2198	4300	6498	SO:0001583	missense	2734	exon6			TCATGGATTCTTC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1036T>C	16.37:g.74528672A>G	ENSP00000405984:p.Ser346Pro	94.0	0.0		88.0	4.0	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502617	0.44455	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.94	5.94	0.96194	.	0.063063	0.64402	D	0.000004	T	0.44265	0.1285	L	0.32530	0.975	0.58432	D	0.999999	B;B;P	0.42584	0.003;0.005;0.784	B;B;B	0.38880	0.009;0.005;0.284	T	0.38650	-0.9651	9	0.38643	T	0.18	-7.8662	16.4075	0.83691	1.0:0.0:0.0:0.0	.	346;346;335	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	P	346;335;346	.	ENSP00000205061:S346P	S	-	1	0	GLG1	73086173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.122000	0.57910	2.275000	0.75901	0.528000	0.53228	TCC	.		0.343	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
GLT6D1	360203	hgsc.bcm.edu;bcgsc.ca	37	9	138516329	138516329	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:138516329C>T	ENST00000371763.1	-	5	698	c.445G>A	c.(445-447)Gtg>Atg	p.V149M		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	149					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TTCACATGCACCAGGGGGCCA	0.557																																					p.V149M		.											.	GLT6D1	91	0			c.G445A						.						41.0	43.0	42.0					9																	138516329		1993	4157	6150	SO:0001583	missense	360203	exon5			CATGCACCAGGGG	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.445G>A	9.37:g.138516329C>T	ENSP00000360829:p.Val149Met	80.0	0.0		47.0	4.0	NM_182974		Missense_Mutation	SNP	ENST00000371763.1	37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.971199	0.00457	.	.	ENSG00000204007	ENST00000371763	T	0.01178	5.22	3.43	-6.86	0.01676	.	1.441670	0.03843	N	0.271043	T	0.00384	0.0012	N	0.00729	-1.24	0.09310	N	1	B	0.22909	0.077	B	0.19148	0.024	T	0.42292	-0.9460	10	0.07175	T	0.84	-1.1801	3.553	0.07854	0.0988:0.392:0.2995:0.2097	.	149	Q7Z4J2	GL6D1_HUMAN	M	149	ENSP00000360829:V149M	ENSP00000360829:V149M	V	-	1	0	GLT6D1	137656150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.876000	0.01633	-3.190000	0.00220	-1.181000	0.01715	GTG	.		0.557	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974	
GMPS	8833	hgsc.bcm.edu;bcgsc.ca	37	3	155629067	155629067	+	Splice_Site	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:155629067A>G	ENST00000496455.2	+	7	1220	c.885A>G	c.(883-885)aaA>aaG	p.K295K	GMPS_ENST00000295920.7_Splice_Site_p.K196K	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	295	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TTCAGGTCAAAGGTATTGAAG	0.358			T	MLL	AML																																p.K295K	Ovarian(153;896 1876 4149 15499 28134)	.		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	GMPS	229	0			c.A885G						.						62.0	57.0	58.0					3																	155629067		1839	4096	5935	SO:0001630	splice_region_variant	8833	exon7			GGTCAAAGGTATT	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.886+1A>G	3.37:g.155629067A>G		117.0	0.0		89.0	4.0	NM_003875	A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	CCDS46941.1																																																																																			.		0.358	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		Silent
GNAL	2774	hgsc.bcm.edu;bcgsc.ca	37	18	11862404	11862404	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr18:11862404A>G	ENST00000423027.3	+	6	823	c.502A>G	c.(502-504)Aga>Gga	p.R168G	GNAL_ENST00000269162.5_Missense_Mutation_p.R168G|GNAL_ENST00000602628.1_5'UTR|GNAL_ENST00000334049.6_Missense_Mutation_p.R245G|GNAL_ENST00000535121.1_Missense_Mutation_p.R168G			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	168					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CTTCCTGGAAAGAATCGACAG	0.507																																					p.R245G		.											.	GNAL	228	0			c.A733G						.						94.0	79.0	84.0					18																	11862404		2203	4300	6503	SO:0001583	missense	2774	exon6			CTGGAAAGAATCG	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.502A>G	18.37:g.11862404A>G	ENSP00000408489:p.Arg168Gly	88.0	0.0		76.0	6.0	NM_182978	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.030689	0.54790	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.1	2.68	0.31781	G protein alpha subunit, helical insertion (2);	0.084546	0.85682	D	0.000000	D	0.89777	0.6813	L	0.59967	1.855	0.80722	D	1	P;P	0.47604	0.776;0.898	P;P	0.55508	0.601;0.777	D	0.87055	0.2149	10	0.59425	D	0.04	.	7.4967	0.27494	0.768:0.1559:0.0761:0.0	.	168;245	P38405;Q86XU3	GNAL_HUMAN;.	G	107;245;168;168;168	ENSP00000334051:R245G;ENSP00000439023:R168G;ENSP00000269162:R168G;ENSP00000408489:R168G	ENSP00000269162:R168G	R	+	1	2	GNAL	11852404	1.000000	0.71417	0.629000	0.29254	0.987000	0.75469	6.928000	0.75846	0.275000	0.22094	0.459000	0.35465	AGA	.		0.507	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071	
GPR133	283383	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	131616271	131616271	+	Splice_Site	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:131616271T>C	ENST00000261654.5	+	21	2736	c.2177T>C	c.(2176-2178)gTc>gCc	p.V726A	GPR133_ENST00000543617.1_Splice_Site_p.V245A|GPR133_ENST00000376682.4_Splice_Site_p.V412A|GPR133_ENST00000535015.1_Splice_Site_p.V758A|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	726					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTTGTGCAGGTCAACATTGGC	0.587																																					p.V726A		.											.	GPR133	191	0			c.T2177C						.						153.0	116.0	129.0					12																	131616271		2203	4300	6503	SO:0001630	splice_region_variant	283383	exon21			TGCAGGTCAACAT	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2176-1T>C	12.37:g.131616271T>C		140.0	0.0		167.0	7.0	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.02|17.02	3.282762|3.282762	0.59867|0.59867	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|T;T;T;T	.|0.55052	.|0.54;0.54;1.24;1.24	4.39|4.39	4.39|4.39	0.52855|0.52855	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.64294|0.64294	0.2585|0.2585	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.61080	.|0.608;0.989;0.743	.|P;D;P	.|0.68039	.|0.852;0.955;0.613	T|T	0.64483|0.64483	-0.6397|-0.6397	5|10	.|0.45353	.|T	.|0.12	.|.	11.8298|11.8298	0.52288|0.52288	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|758;79;726	.|B7ZLF7;Q9NSM3;Q6QNK2	.|.;.;GP133_HUMAN	P|A	80|726;758;412;245	.|ENSP00000261654:V726A;ENSP00000444425:V758A;ENSP00000365872:V412A;ENSP00000438021:V245A	.|ENSP00000261654:V726A	S|V	+|+	1|2	0|0	GPR133|GPR133	130182224|130182224	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.837000|0.837000	0.47467|0.47467	4.951000|4.951000	0.63610|0.63610	1.721000|1.721000	0.51461|0.51461	0.402000|0.402000	0.26972|0.26972	TCA|GTC	.		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Missense_Mutation
GPR143	4935	hgsc.bcm.edu;bcgsc.ca	37	X	9711666	9711666	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:9711666T>C	ENST00000467482.1	-	6	852	c.706A>G	c.(706-708)Agg>Ggg	p.R236G	GPR143_ENST00000380929.2_Missense_Mutation_p.R256G			P51810	GP143_HUMAN	G protein-coupled receptor 143	236	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CCCATCCTCCTCTCGTTCTCC	0.378																																					p.R236G		.											.	GPR143	131	0			c.A706G						.						164.0	141.0	149.0					X																	9711666		2203	4300	6503	SO:0001583	missense	4935	exon6			TCCTCCTCTCGTT	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.706A>G	X.37:g.9711666T>C	ENSP00000417161:p.Arg236Gly	67.0	0.0		70.0	4.0	NM_000273	Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.13|18.13	3.556439|3.556439	0.65425|0.65425	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000447366|ENST00000467482;ENST00000380929;ENST00000431126	D|D;D;D	0.99399|0.99413	-5.83|-5.86;-5.86;-5.86	5.15|5.15	3.95|3.95	0.45737|0.45737	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99384|0.99384	0.9783|0.9783	M|M	0.80616|0.80616	2.505|2.505	0.53688|0.53688	D|D	0.999976|0.999976	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99204|0.99204	1.0874|1.0874	6|10	.|0.62326	.|D	.|0.03	-9.3567|-9.3567	10.3836|10.3836	0.44125|0.44125	0.0:0.0:0.1626:0.8374|0.0:0.0:0.1626:0.8374	.|.	.|236	.|P51810	.|GP143_HUMAN	G|G	171|236;256;152	ENSP00000390546:E171G|ENSP00000417161:R236G;ENSP00000370316:R256G;ENSP00000406138:R152G	.|ENSP00000370316:R256G	E|R	-|-	2|1	0|2	GPR143|GPR143	9671666|9671666	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.777000|0.777000	0.43975|0.43975	2.492000|2.492000	0.45311|0.45311	0.594000|0.594000	0.29761|0.29761	0.417000|0.417000	0.27973|0.27973	GAG|AGG	.		0.378	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273	
GPR68	8111	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	91700443	91700443	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr14:91700443C>T	ENST00000531499.2	-	2	1291	c.952G>A	c.(952-954)Gag>Aag	p.E318K	GPR68_ENST00000238699.3_Missense_Mutation_p.E328K|GPR68_ENST00000535815.1_Missense_Mutation_p.E318K|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	318					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGGTAGGCCTCCCTGGCCCGG	0.731																																					p.E318K		.											.	GPR68	91	0			c.G952A						.						7.0	10.0	9.0					14																	91700443		1923	3691	5614	SO:0001583	missense	8111	exon2			AGGCCTCCCTGGC	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.952G>A	14.37:g.91700443C>T	ENSP00000434045:p.Glu318Lys	18.0	0.0		23.0	6.0	NM_001177676	Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972256	0.34754	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.62498	0.03;0.02;0.03;0.04	5.26	3.39	0.38822	.	0.192813	0.31092	N	0.008273	T	0.44932	0.1317	L	0.27053	0.805	0.27758	N	0.943931	B;B	0.19200	0.034;0.034	B;B	0.20577	0.03;0.03	T	0.28299	-1.0048	10	0.22706	T	0.39	.	8.9293	0.35661	0.0:0.7721:0.149:0.0789	.	318;318	Q6NWR5;Q15743	.;OGR1_HUMAN	K	318;328;318;318	ENSP00000434045:E318K;ENSP00000238699:E328K;ENSP00000440797:E318K;ENSP00000432740:E318K	ENSP00000238699:E328K	E	-	1	0	GPR68	90770196	0.992000	0.36948	0.887000	0.34795	0.603000	0.37013	1.735000	0.38176	0.572000	0.29383	0.555000	0.69702	GAG	.		0.731	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2		
GRIPAP1	56850	ucsc.edu;bcgsc.ca	37	X	48853705	48853705	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:48853705T>C	ENST00000376441.1	-	5	297	c.263A>G	c.(262-264)gAc>gGc	p.D88G	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.D88G|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.D88G|GRIPAP1_ENST00000376444.3_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	88						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAAACGGAAGTCCTCCTCCTG	0.557																																					p.D88G		.											.	GRIPAP1	227	0			c.A263G						.						101.0	64.0	77.0					X																	48853705		2203	4297	6500	SO:0001583	missense	56850	exon5			CGGAAGTCCTCCT	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.263A>G	X.37:g.48853705T>C	ENSP00000365624:p.Asp88Gly	35.0	0.0		33.0	4.0	NM_020137	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	t	16.71	3.197974	0.58126	.	.	ENSG00000068400	ENST00000376425;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T	0.27720	1.65;1.65;1.65	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.57536	1.79	0.37819	D	0.928301	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.52726	-0.8537	10	0.37606	T	0.19	-16.5659	12.1582	0.54089	0.0:0.0:0.0:1.0	.	88;88	Q4V328-2;Q4V328	.;GRAP1_HUMAN	G	88	ENSP00000365608:D88G;ENSP00000365624:D88G;ENSP00000365606:D88G	ENSP00000365606:D88G	D	-	2	0	GRIPAP1	48738649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.557000	0.73937	1.857000	0.53885	0.419000	0.28159	GAC	.		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
GUCY1B3	2983	ucsc.edu;bcgsc.ca	37	4	156724822	156724822	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:156724822A>G	ENST00000264424.8	+	11	1542	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E419G|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E467G|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E454G|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E462G|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E509G|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E419G	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	487	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGTTTACCAGAGCCATGCATT	0.433																																					p.E487G		.											.	.	.	0			c.A1460G						.						80.0	82.0	81.0					4																	156724822		1984	4169	6153	SO:0001583	missense	2983	exon11			TACCAGAGCCATG	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1460A>G	4.37:g.156724822A>G	ENSP00000264424:p.Glu487Gly	78.0	1.0		50.0	4.0	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635351	0.67130	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.87900	2.915	0.80722	D	1	B;B;B;B;B	0.29481	0.16;0.163;0.097;0.245;0.028	B;B;B;B;B	0.40782	0.189;0.34;0.174;0.157;0.133	D	0.86941	0.2079	10	0.38643	T	0.18	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	467;509;462;454;487	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	G	419;509;467;462;487;454;419	ENSP00000427226:E419G;ENSP00000426786:E509G;ENSP00000426319:E467G;ENSP00000422313:E462G;ENSP00000264424:E487G;ENSP00000420842:E454G;ENSP00000425065:E419G	ENSP00000264424:E487G	E	+	2	0	GUCY1B3	156944272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.279000	0.95777	2.254000	0.74563	0.533000	0.62120	GAG	.		0.433	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
H1FNT	341567	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	48723755	48723755	+	Silent	SNP	G	G	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:48723755G>C	ENST00000335017.1	+	1	993	c.681G>C	c.(679-681)ccG>ccC	p.P227P		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	227					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ACACCACGCCGAGGTCAGGGA	0.657																																					p.P227P		.											.	H1FNT	91	0			c.G681C						.						55.0	64.0	61.0					12																	48723755		2189	4294	6483	SO:0001819	synonymous_variant	341567	exon1			CACGCCGAGGTCA	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.681G>C	12.37:g.48723755G>C		51.0	1.0		37.0	8.0	NM_181788	Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	37	CCDS8762.1																																																																																			.		0.657	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788	
HDAC1	3065	hgsc.bcm.edu;bcgsc.ca	37	1	32797350	32797350	+	Missense_Mutation	SNP	G	G	A	rs375198135		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:32797350G>A	ENST00000373548.3	+	11	1246	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.A195T	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	388					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TCCTGAGGACGCCATCCCTGA	0.572																																					p.A388T		.											.	HDAC1	659	0			c.G1162A						.	G	THR/ALA	0,4406		0,0,2203	99.0	93.0	95.0		1162	4.5	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	HDAC1	NM_004964.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	388/483	32797350	1,13005	2203	4300	6503	SO:0001583	missense	3065	exon11			GAGGACGCCATCC	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1162G>A	1.37:g.32797350G>A	ENSP00000362649:p.Ala388Thr	87.0	0.0		70.0	4.0	NM_004964	Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851677	0.51270	0.0	1.16E-4	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.74421	-0.84;-0.52	4.52	4.52	0.55395	.	0.101865	0.64402	D	0.000002	T	0.68632	0.3022	L	0.53249	1.67	0.52501	D	0.999952	B	0.13594	0.008	B	0.15870	0.014	T	0.65187	-0.6229	10	0.34782	T	0.22	-5.5647	13.1543	0.59508	0.0:0.0:0.8398:0.1602	.	388	Q13547	HDAC1_HUMAN	T	388;195	ENSP00000362649:A388T;ENSP00000362642:A195T	ENSP00000362642:A195T	A	+	1	0	HDAC1	32569937	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	5.501000	0.66950	2.447000	0.82792	0.563000	0.77884	GCC	.		0.572	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964	
HERC2	8924	hgsc.bcm.edu;bcgsc.ca	37	15	28493786	28493786	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr15:28493786A>G	ENST00000261609.7	-	21	3255	c.3147T>C	c.(3145-3147)gcT>gcC	p.A1049A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATCCAATGAAGCAGATCTTT	0.388																																					p.A1049A		.											.	HERC2	234	0			c.T3147C						.						104.0	94.0	98.0					15																	28493786		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon21			CAATGAAGCAGAT	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3147T>C	15.37:g.28493786A>G		125.0	0.0		82.0	4.0	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.		0.388	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HIST1H1E	3008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	26156943	26156943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:26156943A>T	ENST00000304218.3	+	1	385	c.325A>T	c.(325-327)Aag>Tag	p.K109*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	109	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAACTCAACAAGAAGGCGGC	0.617																																					p.K109X		.											.	HIST1H1E	154	0			c.A325T						.						33.0	40.0	38.0					6																	26156943		2203	4300	6503	SO:0001587	stop_gained	3008	exon1			CTCAACAAGAAGG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.325A>T	6.37:g.26156943A>T	ENSP00000307705:p.Lys109*	119.0	0.0		141.0	52.0	NM_005321	Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	35	5.588280	0.96590	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.35	5.35	0.76521	.	0.105304	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2553	14.7974	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000307705:K109X	K	+	1	0	HIST1H1E	26264922	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.448000	0.80631	2.146000	0.66826	0.459000	0.35465	AAG	.		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
HIST1H1E	3008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	26156946	26156946	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:26156946A>T	ENST00000304218.3	+	1	388	c.328A>T	c.(328-330)Aag>Tag	p.K110*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	110					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						ACTCAACAAGAAGGCGGCCTC	0.627																																					p.K110X		.											.	HIST1H1E	154	0			c.A328T						.						33.0	39.0	37.0					6																	26156946		2203	4300	6503	SO:0001587	stop_gained	3008	exon1			AACAAGAAGGCGG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.328A>T	6.37:g.26156946A>T	ENSP00000307705:p.Lys110*	110.0	0.0		146.0	55.0	NM_005321	Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	37	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	35	5.574334	0.96553	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.35	5.35	0.76521	.	0.152047	0.41194	D	0.000922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1063	14.7974	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000307705:K110X	K	+	1	0	HIST1H1E	26264925	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.134000	0.71689	2.146000	0.66826	0.459000	0.35465	AAG	.		0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
HMGXB4	10042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	35661108	35661108	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr22:35661108A>G	ENST00000216106.5	+	5	855	c.727A>G	c.(727-729)Agc>Ggc	p.S243G	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S134G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	243					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGTTACAGAGCTTTCTGAA	0.498																																					p.S243G		.											.	HMGXB4	272	0			c.A727G						.						80.0	86.0	84.0					22																	35661108		2203	4300	6503	SO:0001583	missense	10042	exon5			TTACAGAGCTTTC	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.727A>G	22.37:g.35661108A>G	ENSP00000216106:p.Ser243Gly	142.0	0.0		132.0	16.0	NM_001003681	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252352	0.22880	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.49720	0.77;2.12;0.78;2.12	5.81	3.7	0.42460	.	0.062472	0.64402	N	0.000002	T	0.33352	0.0860	L	0.27053	0.805	0.28140	N	0.929847	B	0.02656	0.0	B	0.04013	0.001	T	0.27839	-1.0062	10	0.87932	D	0	-5.6282	8.9631	0.35860	0.7914:0.0:0.2086:0.0	.	243	Q9UGU5	HMGX4_HUMAN	G	134;134;134;243	ENSP00000401658:S134G;ENSP00000398302:S134G;ENSP00000415500:S134G;ENSP00000216106:S243G	ENSP00000216106:S243G	S	+	1	0	HMGXB4	33991108	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	3.133000	0.50531	0.483000	0.27608	-0.256000	0.11100	AGC	.		0.498	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487	
HPS6	79803	hgsc.bcm.edu;bcgsc.ca	37	10	103827332	103827332	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:103827332C>T	ENST00000299238.5	+	1	2186	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	701					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AGAACTGGCTCCAGCTGAGCT	0.617									Hermansky-Pudlak syndrome																												p.P701S		.											.	HPS6	90	0			c.C2101T						.						53.0	57.0	55.0					10																	103827332		2203	4300	6503	SO:0001583	missense	79803	exon1	Familial Cancer Database	HPS, HPS1-8	CTGGCTCCAGCTG	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2101C>T	10.37:g.103827332C>T	ENSP00000299238:p.Pro701Ser	55.0	0.0		56.0	4.0	NM_024747	Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843076	0.51057	.	.	ENSG00000166189	ENST00000299238	T	0.80123	-1.34	4.85	4.85	0.62838	.	0.304358	0.31624	N	0.007329	T	0.78629	0.4313	L	0.54323	1.7	0.32302	N	0.564953	P	0.47910	0.902	P	0.46543	0.52	T	0.83190	-0.0084	10	0.49607	T	0.09	-8.5036	10.2382	0.43297	0.1491:0.7061:0.1447:0.0	.	701	Q86YV9	HPS6_HUMAN	S	701	ENSP00000299238:P701S	ENSP00000299238:P701S	P	+	1	0	HPS6	103817322	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	1.838000	0.39211	2.520000	0.84964	0.561000	0.74099	CCA	.		0.617	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
HTR2B	3357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	231973880	231973880	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:231973880G>A	ENST00000258400.3	-	4	1309	c.797C>T	c.(796-798)aCa>aTa	p.T266I	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	266					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TTGGAAAACTGTAGACACAGT	0.458																																					p.T266I	Ovarian(155;1331 1891 12853 14038 34991)	.											.	HTR2B	90	0			c.C797T						.						167.0	148.0	154.0					2																	231973880		2203	4300	6503	SO:0001583	missense	3357	exon4			AAAACTGTAGACA		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.797C>T	2.37:g.231973880G>A	ENSP00000258400:p.Thr266Ile	248.0	0.0		147.0	57.0	NM_000867	B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664060	0.67700	.	.	ENSG00000135914	ENST00000258400	T	0.61742	0.08	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.049844	0.85682	D	0.000000	T	0.73434	0.3586	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68483	0.958;0.917	T	0.68895	-0.5288	10	0.30854	T	0.27	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	81;266	B3VRC5;P41595	.;5HT2B_HUMAN	I	266	ENSP00000258400:T266I	ENSP00000258400:T266I	T	-	2	0	HTR2B	231682124	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.869000	0.99810	2.638000	0.89438	0.650000	0.86243	ACA	.		0.458	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867	
IFIT1B	439996	hgsc.bcm.edu;bcgsc.ca	37	10	91144106	91144106	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:91144106C>T	ENST00000371809.3	+	2	1116	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	346										endometrium(2)|large_intestine(3)|lung(8)	13						CTATGTTGACCTGGCTGAAAC	0.403																																					p.L346L		.											.	IFIT1B	90	0			c.C1036T						.						69.0	66.0	67.0					10																	91144106		2203	4300	6503	SO:0001819	synonymous_variant	439996	exon2			GTTGACCTGGCTG		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1036C>T	10.37:g.91144106C>T		60.0	0.0		61.0	4.0	NM_001010987	A7E245	Silent	SNP	ENST00000371809.3	37	CCDS31242.1																																																																																			.		0.403	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987	
IPCEF1	26034	hgsc.bcm.edu;bcgsc.ca	37	6	154480993	154480993	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:154480993A>G	ENST00000265198.4	-	12	1439	c.1284T>C	c.(1282-1284)ccT>ccC	p.P428P	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Silent_p.P429P|IPCEF1_ENST00000519344.1_Silent_p.P400P|IPCEF1_ENST00000367220.4_Silent_p.P429P	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	428					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AGGGAGAAGAAGGTGATTTCT	0.458																																					p.P429P		.											.	IPCEF1	90	0			c.T1287C						.						61.0	65.0	63.0					6																	154480993		2203	4300	6503	SO:0001819	synonymous_variant	26034	exon13			AGAAGAAGGTGAT	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1284T>C	6.37:g.154480993A>G		79.0	0.0		57.0	5.0	NM_001130699	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Silent	SNP	ENST00000265198.4	37	CCDS5245.1																																																																																			.		0.458	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699	
IQCB1	9657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	121527778	121527778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:121527778C>A	ENST00000310864.6	-	6	686	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	IQCB1_ENST00000349820.6_Nonsense_Mutation_p.E158*	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	158					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGAATAAGTTCAACATGGCCT	0.338																																					p.E158X		.											.	IQCB1	90	0			c.G472T						.						58.0	65.0	62.0					3																	121527778		2203	4300	6503	SO:0001587	stop_gained	9657	exon6			TAAGTTCAACATG	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.472G>T	3.37:g.121527778C>A	ENSP00000311505:p.Glu158*	240.0	0.0		271.0	103.0	NM_001023570	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Nonsense_Mutation	SNP	ENST00000310864.6	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344418	0.82022	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	.	.	.	5.54	4.67	0.58626	.	0.380726	0.32935	N	0.005467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-6.5529	12.1582	0.54089	0.0:0.1807:0.8193:0.0	.	.	.	.	X	158	.	ENSP00000311505:E158X	E	-	1	0	IQCB1	123010468	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	3.495000	0.53280	1.579000	0.49836	-0.171000	0.13296	GAA	.		0.338	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	
KANK4	163782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	62739084	62739084	+	Silent	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:62739084C>A	ENST00000371153.4	-	3	2070	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	564						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGATCTTCTTCACATACTGCC	0.622																																					p.V564V		.											.	KANK4	74	0			c.G1692T						.						57.0	53.0	54.0					1																	62739084		2203	4300	6503	SO:0001819	synonymous_variant	163782	exon3			CTTCTTCACATAC	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1692G>T	1.37:g.62739084C>A		251.0	0.0		151.0	22.0	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																			.		0.622	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
JAK1	3716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	65307245	65307245	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:65307245G>A	ENST00000342505.4	-	18	2691	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	815	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTACATGATGGTGTCACTGGC	0.493			Mis		ALL																																p.P815S		.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1	3900	0			c.C2443T						.						121.0	115.0	117.0					1																	65307245		1967	4155	6122	SO:0001583	missense	3716	exon18			ATGATGGTGTCAC	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2443C>T	1.37:g.65307245G>A	ENSP00000343204:p.Pro815Ser	177.0	0.0		148.0	45.0	NM_002227	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519567	0.85495	.	.	ENSG00000162434	ENST00000342505	D	0.86230	-2.09	4.61	4.61	0.57282	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.93177	0.7827	M	0.83953	2.67	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.93553	0.6888	9	0.62326	D	0.03	-2.2034	17.9931	0.89175	0.0:0.0:1.0:0.0	.	815	P23458	JAK1_HUMAN	S	815	ENSP00000343204:P815S	ENSP00000343204:P815S	P	-	1	0	JAK1	65079833	1.000000	0.71417	0.698000	0.30274	0.738000	0.42128	9.146000	0.94640	2.550000	0.86006	0.557000	0.71058	CCA	.		0.493	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
KAT6A	7994	hgsc.bcm.edu;bcgsc.ca	37	8	41791422	41791422	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:41791422T>C	ENST00000396930.3	-	18	4859	c.4316A>G	c.(4315-4317)cAt>cGt	p.H1439R	KAT6A_ENST00000406337.1_Missense_Mutation_p.H1439R|KAT6A_ENST00000265713.2_Missense_Mutation_p.H1439R	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1439					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCGCCCTCATGCTCACTGCT	0.502																																					p.H1439R		.											.	.	.	0			c.A4316G						.						118.0	110.0	113.0					8																	41791422		2203	4300	6503	SO:0001583	missense	7994	exon18			CCCTCATGCTCAC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4316A>G	8.37:g.41791422T>C	ENSP00000380136:p.His1439Arg	109.0	0.0		61.0	5.0	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767305	0.31320	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59083	0.29;0.29;0.29	5.96	5.96	0.96718	.	0.131092	0.53938	D	0.000054	T	0.35480	0.0933	N	0.08118	0	0.53688	D	0.999974	B	0.22414	0.069	B	0.21546	0.035	T	0.33701	-0.9858	10	0.02654	T	1	-13.3592	16.4311	0.83844	0.0:0.0:0.0:1.0	.	1439	Q92794	KAT6A_HUMAN	R	1439	ENSP00000265713:H1439R;ENSP00000385888:H1439R;ENSP00000380136:H1439R	ENSP00000265713:H1439R	H	-	2	0	KAT6A	41910579	1.000000	0.71417	0.867000	0.34043	0.502000	0.33828	5.650000	0.67944	2.277000	0.76020	0.528000	0.53228	CAT	.		0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KCNB2	9312	broad.mit.edu;bcgsc.ca	37	8	73480279	73480279	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:73480279C>T	ENST00000523207.1	+	2	898	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	104					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R104W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAATTTCTACCGGACCGGGAA	0.463																																					p.R104W		.											.	KCNB2	158	1	Substitution - Missense(1)	lung(1)	c.C310T						.						76.0	80.0	78.0					8																	73480279		2203	4300	6503	SO:0001583	missense	9312	exon2			TTCTACCGGACCG	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.310C>T	8.37:g.73480279C>T	ENSP00000430846:p.Arg104Trp	178.0	1.0		302.0	21.0	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728234	0.69074	.	.	ENSG00000182674	ENST00000523207	T	0.80824	-1.42	6.17	4.22	0.49857	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.32918	U	0.005494	D	0.91768	0.7396	H	0.96398	3.815	0.50467	D	0.999875	D	0.89917	1.0	D	0.97110	1.0	D	0.92664	0.6144	10	0.87932	D	0	.	9.3834	0.38327	0.2288:0.6924:0.0:0.0788	.	104	Q92953	KCNB2_HUMAN	W	104	ENSP00000430846:R104W	ENSP00000430846:R104W	R	+	1	2	KCNB2	73642833	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.559000	0.45888	1.630000	0.50440	0.655000	0.94253	CGG	.		0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KIAA0319L	79932	hgsc.bcm.edu;bcgsc.ca	37	1	35972224	35972224	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:35972224C>T	ENST00000325722.3	-	3	889	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	219						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGCAGAGCCACTGGTAGTC	0.443																																					p.G219S		.											.	KIAA0319L	92	0			c.G655A						.						157.0	145.0	149.0					1																	35972224		2203	4300	6503	SO:0001583	missense	79932	exon3			CAGAGCCACTGGT	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.655G>A	1.37:g.35972224C>T	ENSP00000318406:p.Gly219Ser	184.0	0.0		123.0	5.0	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.631|7.631	0.678785|0.678785	0.14841|0.14841	.|.	.|.	ENSG00000142687|ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892|ENST00000431916	T;T;T;T;T|.	0.41400|.	3.36;3.36;2.83;1.57;1.0|.	5.55|5.55	2.49|2.49	0.30216|0.30216	.|.	0.891435|.	0.09683|.	N|.	0.769400|.	T|.	0.18551|.	0.0445|.	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19583|.	0.037;0.022;0.0|.	B;B;B|.	0.15052|.	0.012;0.008;0.001|.	T|.	0.17289|.	-1.0374|.	10|.	0.02654|.	T|.	1|.	-0.8278|-0.8278	5.0196|5.0196	0.14354|0.14354	0.0:0.6431:0.1729:0.184|0.0:0.6431:0.1729:0.184	.|.	219;219;219|.	B4DYG9;B1AN14;Q8IZA0|.	.;.;K319L_HUMAN|.	S|X	219|82	ENSP00000318406:G219S;ENSP00000395883:G219S;ENSP00000407576:G219S;ENSP00000362355:G219S;ENSP00000419396:G219S|.	ENSP00000318406:G219S|.	G|W	-|-	1|2	0|0	KIAA0319L|KIAA0319L	35744811|35744811	0.076000|0.076000	0.21285|0.21285	0.031000|0.031000	0.17742|0.17742	0.770000|0.770000	0.43624|0.43624	1.052000|1.052000	0.30429|0.30429	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	GGC|TGG	.		0.443	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
KIAA0391	9692	hgsc.bcm.edu;bcgsc.ca	37	14	35596745	35596745	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr14:35596745T>C	ENST00000557565.1	+	4	1476	c.1095T>C	c.(1093-1095)taT>taC	p.Y365Y	KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000604948.1_Silent_p.Y270Y|KIAA0391_ENST00000534898.4_Silent_p.Y365Y|KIAA0391_ENST00000605870.1_5'UTR|KIAA0391_ENST00000603544.1_Silent_p.Y349Y|KIAA0391_ENST00000321130.10_Silent_p.Y349Y|KIAA0391_ENST00000250377.7_Silent_p.Y270Y	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	365					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CAGAAGAATATGAATGTCTTA	0.358																																					p.Y365Y		.											.	KIAA0391	226	0			c.T1095C						.						82.0	82.0	82.0					14																	35596745		2203	4300	6503	SO:0001819	synonymous_variant	9692	exon4			AGAATATGAATGT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1095T>C	14.37:g.35596745T>C		110.0	0.0		92.0	4.0	NM_014672	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	CCDS32063.1																																																																																			.		0.358	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
KIF2B	84643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	51901222	51901222	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:51901222C>T	ENST00000268919.4	+	1	984	c.828C>T	c.(826-828)aaC>aaT	p.N276N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	276	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGCCTCCAACGAGTTGGTGT	0.562																																					p.N276N		.											.	KIF2B	98	0			c.C828T						.						114.0	95.0	101.0					17																	51901222		2203	4300	6503	SO:0001819	synonymous_variant	84643	exon1			CTCCAACGAGTTG	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.828C>T	17.37:g.51901222C>T		102.0	0.0		112.0	36.0	NM_032559	Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	CCDS32685.1																																																																																			.		0.562	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
KIF4B	285643	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	154394167	154394167	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:154394167A>C	ENST00000435029.4	+	1	908	c.748A>C	c.(748-750)Acc>Ccc	p.T250P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGAAGAAAACCAAGGCTGA	0.428																																					p.T250P		.											.	KIF4B	1	0			c.A748C						.						111.0	113.0	112.0					5																	154394167		2203	4300	6503	SO:0001583	missense	285643	exon1			AAGAAAACCAAGG	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.748A>C	5.37:g.154394167A>C	ENSP00000387875:p.Thr250Pro	227.0	0.0		269.0	19.0	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	16.48	3.134160	0.56828	.	.	ENSG00000226650	ENST00000435029	T	0.77489	-1.1	1.73	1.73	0.24493	Kinesin, motor domain (5);	.	.	.	.	D	0.89694	0.6789	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88917	0.3363	9	0.87932	D	0	.	7.4446	0.27203	1.0:0.0:0.0:0.0	.	250	Q2VIQ3	KIF4B_HUMAN	P	250	ENSP00000387875:T250P	ENSP00000387875:T250P	T	+	1	0	KIF4B	154374360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.389000	0.59639	1.070000	0.40811	0.533000	0.62120	ACC	.		0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
KLHDC7A	127707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	18809370	18809370	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:18809370G>A	ENST00000400664.1	+	1	1947	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	632						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACGGTGCGTGCCAAGGAA	0.706																																					p.R632H		.											.	KLHDC7A	93	0			c.G1895A						.						21.0	23.0	22.0					1																	18809370		2202	4297	6499	SO:0001583	missense	127707	exon1			CGGTGCGTGCCAA	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1895G>A	1.37:g.18809370G>A	ENSP00000383505:p.Arg632His	47.0	0.0		26.0	13.0	NM_152375	Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699241	0.30142	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.65178	-0.14	4.85	4.85	0.62838	Kelch-type beta propeller (1);	0.182827	0.47852	D	0.000206	T	0.38134	0.1029	N	0.14661	0.345	0.21220	N	0.999751	P;P	0.35348	0.496;0.496	B;B	0.14578	0.008;0.011	T	0.41448	-0.9508	10	0.59425	D	0.04	.	10.2342	0.43273	0.0923:0.0:0.9077:0.0	.	569;632	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	H	632;569	ENSP00000383505:R632H	ENSP00000383505:R632H	R	+	2	0	KLHDC7A	18681957	1.000000	0.71417	0.105000	0.21289	0.145000	0.21501	7.932000	0.87634	2.233000	0.73108	0.561000	0.74099	CGT	.		0.706	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
KPNA3	3839	hgsc.bcm.edu;bcgsc.ca	37	13	50285129	50285129	+	Silent	SNP	T	T	C	rs370734199		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr13:50285129T>C	ENST00000261667.3	-	11	1215	c.801A>G	c.(799-801)tcA>tcG	p.S267S		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	267					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGTCAAGTATGACAGAGCCC	0.398																																					p.S267S		.											.	KPNA3	226	0			c.A801G						.						75.0	66.0	69.0					13																	50285129		2203	4300	6503	SO:0001819	synonymous_variant	3839	exon11			CAAGTATGACAGA	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.801A>G	13.37:g.50285129T>C		100.0	0.0		68.0	4.0	NM_002267	O00191|O43195|Q5JVM9|Q96AA7	Silent	SNP	ENST00000261667.3	37	CCDS9421.1																																																																																			.		0.398	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	
KRTAP26-1	388818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	31692292	31692292	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr21:31692292T>G	ENST00000360542.3	-	1	315	c.62A>C	c.(61-63)cAt>cCt	p.H21P		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	21						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGAGGAATATGGCGGGAGGT	0.532																																					p.H21P		.											.	KRTAP26-1	69	0			c.A62C						.						53.0	56.0	55.0					21																	31692292		2203	4300	6503	SO:0001583	missense	388818	exon1			GGAATATGGCGGG	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.62A>C	21.37:g.31692292T>G	ENSP00000353742:p.His21Pro	136.0	0.0		109.0	16.0	NM_203405	B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877962	0.33162	.	.	ENSG00000197683	ENST00000360542	T	0.03272	3.99	4.95	2.34	0.29019	.	0.521049	0.18487	N	0.139742	T	0.04363	0.0120	L	0.47716	1.5	0.23260	N	0.998028	B	0.24721	0.11	B	0.27262	0.078	T	0.33854	-0.9852	10	0.36615	T	0.2	-11.6437	8.6875	0.34247	0.0:0.0:0.3806:0.6193	.	21	Q6PEX3	KR261_HUMAN	P	21	ENSP00000353742:H21P	ENSP00000353742:H21P	H	-	2	0	KRTAP26-1	30614163	0.892000	0.30473	0.262000	0.24481	0.260000	0.26232	1.198000	0.32223	0.949000	0.37715	-0.316000	0.08728	CAT	.		0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405	
LAMP1	3916	hgsc.bcm.edu;bcgsc.ca	37	13	113973926	113973926	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr13:113973926C>T	ENST00000332556.4	+	5	899	c.705C>T	c.(703-705)agC>agT	p.S235S	LAMP1_ENST00000397181.3_Silent_p.S182S	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	235	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGCTGGCCAGCATGGGGCTGC	0.677																																					p.S235S		.											.	LAMP1	514	0			c.C705T						.						48.0	57.0	54.0					13																	113973926		2051	4174	6225	SO:0001819	synonymous_variant	3916	exon5			GGCCAGCATGGGG	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.705C>T	13.37:g.113973926C>T		43.0	0.0		35.0	4.0	NM_005561	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	37	CCDS41909.1																																																																																			.		0.677	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2		
LCN15	389812	hgsc.bcm.edu;bcgsc.ca	37	9	139651509	139651509	+	IGR	SNP	C	C	T	rs140571672		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:139651509C>T	ENST00000316144.5	-	0	762				LCN8_ENST00000482893.1_5'UTR|LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Missense_Mutation_p.V46M	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GCAACCTTCACGGTCAGGTTA	0.637																																					p.V46M		.											.	LCN8	91	0			c.G136A						.	C	MET/VAL	0,4406		0,0,2203	49.0	43.0	45.0		136	2.6	0.0	9	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	no	missense	LCN8	NM_178469.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	46/153	139651509	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	138307	exon2			CCTTCACGGTCAG		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651509C>T		90.0	0.0		76.0	4.0	NM_178469		Missense_Mutation	SNP	ENST00000316144.5	37	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	9.175	1.022095	0.19433	0.0	2.33E-4	ENSG00000204001	ENST00000371688	T	0.10763	2.84	3.47	2.57	0.30868	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.08891	0.0220	L	0.35723	1.085	0.09310	N	1	D;P	0.58268	0.982;0.847	B;B	0.42593	0.392;0.188	T	0.24440	-1.0160	8	.	.	.	.	7.0423	0.25027	0.0:0.874:0.0:0.126	.	69;46	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	M	46	ENSP00000360753:V46M	.	V	-	1	0	LCN8	138771330	0.598000	0.26882	0.032000	0.17829	0.070000	0.16714	1.531000	0.36018	1.053000	0.40415	-0.254000	0.11334	GTG	C|1.000;T|0.000		0.637	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347	
LEPRE1	64175	hgsc.bcm.edu;bcgsc.ca	37	1	43224582	43224582	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:43224582T>C	ENST00000296388.5	-	4	932	c.881A>G	c.(880-882)aAg>aGg	p.K294R	LEPRE1_ENST00000236040.4_Missense_Mutation_p.K294R|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K294R			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	294					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCAAAGGGCTTCTCTCGACT	0.443																																					p.K294R		.											.	LEPRE1	94	0			c.A881G						.						110.0	99.0	103.0					1																	43224582		2203	4300	6503	SO:0001583	missense	64175	exon4			AAGGGCTTCTCTC	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.881A>G	1.37:g.43224582T>C	ENSP00000296388:p.Lys294Arg	102.0	0.0		70.0	4.0	NM_001146289	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847584	0.71603	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.37058	1.22;1.22;1.22	5.9	5.9	0.94986	.	0.141622	0.64402	D	0.000007	T	0.42268	0.1195	L	0.45137	1.4	0.38896	D	0.95721	D;P;P	0.57899	0.981;0.872;0.932	P;B;P	0.54629	0.757;0.34;0.49	T	0.24154	-1.0168	10	0.13470	T	0.59	-44.1592	14.2838	0.66232	0.0:0.0:0.0:1.0	.	294;159;294	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	R	294;294;294;159	ENSP00000380245:K294R;ENSP00000236040:K294R;ENSP00000296388:K294R	ENSP00000236040:K294R	K	-	2	0	LEPRE1	42997169	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.952000	0.40343	2.248000	0.74166	0.460000	0.39030	AAG	.		0.443	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356	
LPCAT2	54947	ucsc.edu;bcgsc.ca	37	16	55563789	55563789	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:55563789A>G	ENST00000262134.5	+	4	756	c.572A>G	c.(571-573)gAt>gGt	p.D191G		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	191					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCCCGTGTAGATCCGGATTCC	0.393																																					p.D191G		.											.	LPCAT2	90	0			c.A572G						.						57.0	57.0	57.0					16																	55563789		2198	4300	6498	SO:0001583	missense	54947	exon4			GTGTAGATCCGGA	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.572A>G	16.37:g.55563789A>G	ENSP00000262134:p.Asp191Gly	69.0	0.0		64.0	6.0	NM_017839	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455346	0.84209	.	.	ENSG00000087253	ENST00000262134	D	0.92911	-3.13	5.29	5.29	0.74685	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.95686	0.8597	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96213	0.9154	10	0.87932	D	0	-21.3273	15.5292	0.75942	1.0:0.0:0.0:0.0	.	191	Q7L5N7	PCAT2_HUMAN	G	191	ENSP00000262134:D191G	ENSP00000262134:D191G	D	+	2	0	LPCAT2	54121290	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	6.313000	0.72844	2.136000	0.66102	0.528000	0.53228	GAT	.		0.393	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	
LRRC16B	90668	hgsc.bcm.edu;bcgsc.ca	37	14	24533482	24533482	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr14:24533482A>G	ENST00000342740.5	+	32	3161	c.3007A>G	c.(3007-3009)Aat>Gat	p.N1003D	LRRC16B_ENST00000334420.7_Missense_Mutation_p.N99D	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1003						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCGTCAGGAGAATGGGATGGC	0.567																																					p.N1003D		.											.	LRRC16B	139	0			c.A3007G						.						62.0	51.0	54.0					14																	24533482		2203	4300	6503	SO:0001583	missense	90668	exon32			CAGGAGAATGGGA	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3007A>G	14.37:g.24533482A>G	ENSP00000340467:p.Asn1003Asp	51.0	0.0		56.0	4.0	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328354	0.60743	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.56941	0.43;0.43	5.28	5.28	0.74379	.	0.000000	0.45606	D	0.000343	T	0.61489	0.2351	L	0.46157	1.445	0.38364	D	0.944697	D;P	0.64830	0.994;0.882	D;B	0.68039	0.955;0.332	T	0.61158	-0.7119	10	0.24483	T	0.36	-18.0226	11.6259	0.51145	1.0:0.0:0.0:0.0	.	99;1003	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	D	1003;99	ENSP00000340467:N1003D;ENSP00000334701:N99D	ENSP00000334701:N99D	N	+	1	0	LRRC16B	23603322	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.348000	0.52209	1.998000	0.58463	0.533000	0.62120	AAT	.		0.567	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
LRRC24	441381	hgsc.bcm.edu;broad.mit.edu	37	8	145748134	145748134	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:145748134C>T	ENST00000529415.2	-	5	1384	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	LRRC24_ENST00000533758.1_Missense_Mutation_p.A420T|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	423						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATCATGGCGACCAGGAGC	0.711																																					p.A423T		.											.	LRRC24	90	0			c.G1267A						.						6.0	6.0	6.0					8																	145748134		2132	4224	6356	SO:0001583	missense	441381	exon5			TCATGGCGACCAG	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1267G>A	8.37:g.145748134C>T	ENSP00000434849:p.Ala423Thr	16.0	0.0		34.0	7.0	NM_001024678		Missense_Mutation	SNP	ENST00000529415.2	37	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732977	0.30684	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.55930	0.63;0.49	4.73	1.28	0.21552	.	0.865932	0.10420	N	0.676868	T	0.36744	0.0978	N	0.24115	0.695	0.18873	N	0.999986	B;B	0.19706	0.038;0.022	B;B	0.18871	0.023;0.01	T	0.25012	-1.0144	10	0.35671	T	0.21	.	9.3443	0.38098	0.0:0.7528:0.0:0.2472	.	420;423	G3V1D8;Q50LG9	.;LRC24_HUMAN	T	423;420	ENSP00000434849:A423T;ENSP00000435653:A420T	ENSP00000434849:A423T	A	-	1	0	LRRC24	145718942	0.001000	0.12720	0.928000	0.36995	0.845000	0.48019	0.014000	0.13333	0.427000	0.26145	0.561000	0.74099	GCC	.		0.711	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678	
LRRC3B	116135	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	26751740	26751740	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:26751740G>T	ENST00000396641.2	+	2	1169	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	LRRC3B_ENST00000417744.1_Missense_Mutation_p.D193Y|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.D193Y	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	193	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAACGACGCTGACCTTTGTAA	0.468																																					p.D193Y		.											.	LRRC3B	94	0			c.G577T						.						78.0	71.0	73.0					3																	26751740		2203	4300	6503	SO:0001583	missense	116135	exon2			GACGCTGACCTTT	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.577G>T	3.37:g.26751740G>T	ENSP00000379880:p.Asp193Tyr	197.0	0.0		146.0	10.0	NM_052953	Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666595	0.67814	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.61742	0.08;0.08;0.08	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.70103	-0.4964	10	0.72032	D	0.01	-18.9203	19.8676	0.96824	0.0:0.0:1.0:0.0	.	193	Q96PB8	LRC3B_HUMAN	Y	193	ENSP00000379880:D193Y;ENSP00000406370:D193Y;ENSP00000394940:D193Y	ENSP00000379880:D193Y	D	+	1	0	LRRC3B	26726744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	GAC	.		0.468	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953	
LRRC8A	56262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	131670854	131670855	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:131670854_131670855delCT	ENST00000259324.5	+	3	1934_1935	c.1411_1412delCT	c.(1411-1413)ctcfs	p.L471fs	LRRC8A_ENST00000372599.3_Frame_Shift_Del_p.L471fs|LRRC8A_ENST00000372600.4_Frame_Shift_Del_p.L471fs	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	471					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCTCACGGGCCTCAAGGAGCTG	0.629																																					p.471_471del		.											.	LRRC8A	90	0			c.1411_1412del						.																																			SO:0001589	frameshift_variant	56262	exon3			ACGGGCCTCAAGG	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1411_1412delCT	9.37:g.131670854_131670855delCT	ENSP00000259324:p.Leu471fs	68.0	0.0		40.0	11.0	NM_001127244	Q6UXM2|Q8NCI0|Q9P2B1	Frame_Shift_Del	DEL	ENST00000259324.5	37	CCDS35155.1																																																																																			.		0.629	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
MACROD2	140733	hgsc.bcm.edu;bcgsc.ca	37	20	15967784	15967784	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr20:15967784A>G	ENST00000310348.4	+	15	1134	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	MACROD2_ENST00000407045.3_Silent_p.E29E|MACROD2_ENST00000217246.4_Silent_p.E378E|MACROD2_ENST00000378058.3_Silent_p.E143E|MACROD2_ENST00000402914.1_Silent_p.E143E			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	378	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGACCAAGAAGAAAAAGAAG	0.383																																					p.E378E		.											.	MACROD2	22	0			c.A1134G						.						113.0	111.0	112.0					20																	15967784		2203	4300	6503	SO:0001819	synonymous_variant	140733	exon15			CCAAGAAGAAAAA	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1134A>G	20.37:g.15967784A>G		91.0	0.0		78.0	4.0	NM_080676	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	CCDS13120.2																																																																																			.		0.383	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	
MAT1A	4143	hgsc.bcm.edu;bcgsc.ca	37	10	82049166	82049166	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:82049166A>G	ENST00000372213.3	-	1	274	c.14T>C	c.(13-15)gTg>gCg	p.V5A		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	5					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAAGCCATCCACCGGTCCATT	0.473																																					p.V5A		.											.	MAT1A	90	0			c.T14C						.						172.0	154.0	160.0					10																	82049166		2203	4300	6503	SO:0001583	missense	4143	exon1			CCATCCACCGGTC		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.14T>C	10.37:g.82049166A>G	ENSP00000361287:p.Val5Ala	179.0	0.0		85.0	6.0	NM_000429	D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907577	0.33721	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.96011	-3.88	5.34	5.34	0.76211	.	0.541473	0.19334	N	0.116836	D	0.86301	0.5900	N	0.02916	-0.46	0.35460	D	0.796464	B	0.02656	0.0	B	0.04013	0.001	D	0.83742	0.0204	10	0.10111	T	0.7	-25.9898	13.554	0.61749	1.0:0.0:0.0:0.0	.	5	Q00266	METK1_HUMAN	A	5	ENSP00000361287:V5A	ENSP00000361280:V5A	V	-	2	0	MAT1A	82039146	1.000000	0.71417	0.990000	0.47175	0.799000	0.45148	3.481000	0.53179	2.156000	0.67533	0.533000	0.62120	GTG	.		0.473	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
MC5R	4161	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	13826628	13826628	+	Silent	SNP	C	C	T	rs142287236	byFrequency	TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr18:13826628C>T	ENST00000324750.3	+	1	1086	c.864C>T	c.(862-864)tcC>tcT	p.S288S	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	288					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGTAATTCCGTGATGGACC	0.463													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		22740	0.0		0.0	False		,,,				2504	0.0				p.S288S		.											.	MC5R	526	0			c.C864T						.	C		9,4397	14.3+/-33.2	0,9,2194	176.0	160.0	166.0		864	-8.0	0.1	18	dbSNP_134	166	0,8600		0,0,4300	no	coding-synonymous	MC5R	NM_005913.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		288/326	13826628	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4161	exon1			TAATTCCGTGATG	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.864C>T	18.37:g.13826628C>T		360.0	1.0		311.0	41.0	NM_005913	B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	CCDS11868.1																																																																																			C|1.000;T|0.000		0.463	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
MED17	9440	hgsc.bcm.edu;bcgsc.ca	37	11	93528080	93528080	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:93528080C>T	ENST00000251871.3	+	6	1153	c.866C>T	c.(865-867)cCa>cTa	p.P289L	snoU13_ENST00000459243.1_RNA|MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	289					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCAGGTTCCCCACATTGGCAG	0.338																																					p.P289L		.											.	MED17	187	0			c.C866T						.						74.0	77.0	76.0					11																	93528080		2201	4297	6498	SO:0001583	missense	9440	exon6			GTTCCCCACATTG	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.866C>T	11.37:g.93528080C>T	ENSP00000251871:p.Pro289Leu	99.0	0.0		84.0	4.0	NM_004268	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360129	0.41801	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.52754	0.65	5.57	5.57	0.84162	.	0.048996	0.85682	D	0.000000	T	0.38214	0.1032	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.12016	-1.0564	10	0.27082	T	0.32	-16.3463	13.7988	0.63188	0.0:0.9268:0.0:0.0732	.	289	Q9NVC6	MED17_HUMAN	L	289;259	ENSP00000251871:P289L	ENSP00000251871:P289L	P	+	2	0	MED17	93167728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.665000	0.54532	2.639000	0.89480	0.655000	0.94253	CCA	.		0.338	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	
MED21	9412	hgsc.bcm.edu;bcgsc.ca	37	12	27181241	27181241	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:27181241A>G	ENST00000282892.3	+	4	312	c.282A>G	c.(280-282)gaA>gaG	p.E94E	MED21_ENST00000546323.1_Silent_p.E94E|MED21_ENST00000536503.1_3'UTR	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	94					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					ATAAGCTAGAAGAAGAAAACC	0.368																																					p.E94E		.											.	MED21	227	0			c.A282G						.						134.0	135.0	135.0					12																	27181241		2203	4300	6503	SO:0001819	synonymous_variant	9412	exon4			GCTAGAAGAAGAA	U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"""SRB7 (suppressor of RNA polymerase B, yeast) homolog"", ""SRB7 suppressor of RNA polymerase B homolog (yeast)"""	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.282A>G	12.37:g.27181241A>G		90.0	0.0		75.0	4.0	NM_004264	B2R4I3|Q6IB05|Q92811	Silent	SNP	ENST00000282892.3	37	CCDS8711.1																																																																																			.		0.368	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403262.1	NM_004264	
MED24	9862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38179530	38179530	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:38179530G>A	ENST00000394128.2	-	20	2185	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	MED24_ENST00000394126.1_Missense_Mutation_p.P727S|MED24_ENST00000501516.3_Missense_Mutation_p.P721S|MED24_ENST00000394127.2_Missense_Mutation_p.P689S|MED24_ENST00000356271.3_Missense_Mutation_p.P689S	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	702					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CGCTTGGGGGGCAGCAGGTTC	0.602																																					p.P702S		.											.	MED24	187	0			c.C2104T						.						57.0	51.0	53.0					17																	38179530		2203	4300	6503	SO:0001583	missense	9862	exon20			TGGGGGGCAGCAG	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2104C>T	17.37:g.38179530G>A	ENSP00000377686:p.Pro702Ser	128.0	0.0		94.0	20.0	NM_014815	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908418	0.52333	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.44482	0.92;0.92;0.92	4.43	4.43	0.53597	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.51422	1.61	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.81;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.998;0.998;0.498;0.998;0.999;0.998	T	0.61302	-0.7090	10	0.51188	T	0.08	-25.0801	17.2528	0.87047	0.0:0.0:1.0:0.0	.	652;612;612;689;702;644	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	S	702;702;702;652;689;644;263;173;612	ENSP00000377686:P702S;ENSP00000443344:P652S;ENSP00000377685:P689S	ENSP00000348610:P702S	P	-	1	0	MED24	35433056	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.653000	0.83643	2.280000	0.76307	0.561000	0.74099	CCC	.		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
MEGF8	1954	hgsc.bcm.edu;bcgsc.ca	37	19	42874933	42874933	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:42874933A>G	ENST00000251268.6	+	40	7086	c.7086A>G	c.(7084-7086)aaA>aaG	p.K2362K	MEGF8_ENST00000378073.4_Start_Codon_SNP_p.M1V|MEGF8_ENST00000334370.4_Silent_p.K2295K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2362					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGGGGAGAAATGCGAGAGCT	0.632																																					p.K2362K		.											.	MEGF8	23	0			c.A7086G						.						63.0	54.0	57.0					19																	42874933		2201	4295	6496	SO:0001819	synonymous_variant	1954	exon40			GGAGAAATGCGAG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7086A>G	19.37:g.42874933A>G		66.0	0.0		80.0	4.0	NM_001271938	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	A	15.17	2.752735	0.49362	.	.	ENSG00000105429	ENST00000378073	.	.	.	4.96	-5.22	0.02806	.	.	.	.	.	T	0.59362	0.2188	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40942	-0.9536	7	0.87932	D	0	-3.8313	19.3059	0.94163	0.197:0.0:0.803:0.0	.	1	F5GZG7	.	V	1	.	ENSP00000367313:M1V	M	+	1	0	MEGF8	47566773	0.947000	0.32204	0.830000	0.32933	0.904000	0.53231	0.042000	0.13949	-1.128000	0.02922	-0.441000	0.05720	ATG	.		0.632	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
MEP1B	4225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	29790544	29790544	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr18:29790544C>A	ENST00000269202.6	+	10	1047	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T	MEP1B_ENST00000581447.1_Missense_Mutation_p.P334T	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	334	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AACGCTGTACCCTAAAAGAGG	0.413																																					p.P334T		.											.	MEP1B	92	0			c.C1000A						.						90.0	85.0	87.0					18																	29790544		1887	4104	5991	SO:0001583	missense	4225	exon10			CTGTACCCTAAAA	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1000C>A	18.37:g.29790544C>A	ENSP00000269202:p.Pro334Thr	82.0	0.0		58.0	25.0	NM_005925	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502801	0.85176	.	.	ENSG00000141434	ENST00000269202	T	0.02103	4.45	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	M	0.87038	2.855	0.80722	D	1	D	0.54207	0.965	P	0.56163	0.793	T	0.00380	-1.1776	10	0.87932	D	0	-19.3465	19.0127	0.92881	0.0:1.0:0.0:0.0	.	334	Q16820	MEP1B_HUMAN	T	334	ENSP00000269202:P334T	ENSP00000269202:P334T	P	+	1	0	MEP1B	28044542	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.439000	0.80444	2.507000	0.84556	0.585000	0.79938	CCT	.		0.413	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
MKS1	54903	hgsc.bcm.edu;bcgsc.ca	37	17	56290446	56290446	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:56290446T>C	ENST00000393119.2	-	8	829	c.755A>G	c.(754-756)gAg>gGg	p.E252G	MKS1_ENST00000313863.6_Missense_Mutation_p.E252G|MKS1_ENST00000337050.7_Missense_Mutation_p.E252G|MKS1_ENST00000537529.2_Missense_Mutation_p.E242G|MKS1_ENST00000546108.1_Missense_Mutation_p.E49G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	252					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCTCCGTCTCAATCCTGTA	0.557																																					p.E252G		.											.	MKS1	91	0			c.A755G						.						64.0	65.0	64.0					17																	56290446		1924	4133	6057	SO:0001583	missense	54903	exon8			TCCGTCTCAATCC	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.755A>G	17.37:g.56290446T>C	ENSP00000376827:p.Glu252Gly	74.0	0.0		53.0	4.0	NM_017777	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.12|16.12	3.033549|3.033549	0.54896|0.54896	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.76709|.	-0.61;-0.59;-0.35;-1.04|.	5.8|5.8	4.68|4.68	0.58851|0.58851	.|.	1.812070|.	0.02289|.	N|.	0.070158|.	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.69823|0.69823	2.125|2.125	0.54753|0.54753	D|D	0.999988|0.999988	D;P|.	0.60160|.	0.987;0.856|.	P;B|.	0.54856|.	0.762;0.345|.	T|T	0.70813|0.70813	-0.4770|-0.4770	9|5	.|.	.|.	.|.	-34.3665|-34.3665	11.3497|11.3497	0.49581|0.49581	0.1354:0.0:0.0:0.8646|0.1354:0.0:0.0:0.8646	.|.	252;252|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	G|G	242;252;252;252;49|253	ENSP00000442096:E242G;ENSP00000376827:E252G;ENSP00000338407:E252G;ENSP00000443012:E49G|.	.|.	E|R	-|-	2|1	0|2	MKS1|MKS1	53645445|53645445	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.270000|0.270000	0.26580|0.26580	3.900000|3.900000	0.56295|0.56295	2.203000|2.203000	0.70933|0.70933	0.523000|0.523000	0.50628|0.50628	GAG|AGA	.		0.557	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
MMP14	4323	hgsc.bcm.edu;broad.mit.edu	37	14	23310816	23310816	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr14:23310816A>G	ENST00000311852.6	+	2	486	c.225A>G	c.(223-225)caA>caG	p.Q75Q	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	75					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	ACGGCTTGCAAGTAACAGGCA	0.567																																					p.Q75Q		.											.	MMP14	226	0			c.A225G						.						96.0	73.0	81.0					14																	23310816		2203	4300	6503	SO:0001819	synonymous_variant	4323	exon2			CTTGCAAGTAACA		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.225A>G	14.37:g.23310816A>G		48.0	0.0		44.0	4.0	NM_004995	A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	CCDS9577.1																																																																																			.		0.567	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
MON2	23041	hgsc.bcm.edu;bcgsc.ca	37	12	62887709	62887709	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:62887709A>G	ENST00000393632.2	+	3	581	c.190A>G	c.(190-192)Agc>Ggc	p.S64G	MON2_ENST00000552738.1_Missense_Mutation_p.S64G|MON2_ENST00000552115.1_Missense_Mutation_p.S64G|MON2_ENST00000549378.1_Intron|MON2_ENST00000393630.3_Missense_Mutation_p.S64G|MON2_ENST00000393629.2_Missense_Mutation_p.S64G|MON2_ENST00000280379.6_Missense_Mutation_p.S64G|MON2_ENST00000546600.1_Missense_Mutation_p.S64G	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	64					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GAAAGAGAACAGCTCAGAGGT	0.333																																					p.S64G		.											.	MON2	514	0			c.A190G						.						79.0	67.0	71.0					12																	62887709		2202	4300	6502	SO:0001583	missense	23041	exon3			GAGAACAGCTCAG		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.190A>G	12.37:g.62887709A>G	ENSP00000377252:p.Ser64Gly	142.0	0.0		86.0	4.0	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773486	0.69992	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66460	-0.2;-0.21;-0.21;-0.2;-0.2;-0.21;1.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	L	0.58810	1.83	0.80722	D	1	D;P;P;D	0.54047	0.964;0.776;0.544;0.963	P;P;B;P	0.56434	0.632;0.583;0.257;0.798	T	0.74728	-0.3567	9	.	.	.	-9.3819	15.8953	0.79329	1.0:0.0:0.0:0.0	.	64;64;64;64	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	G	64	ENSP00000377252:S64G;ENSP00000377250:S64G;ENSP00000280379:S64G;ENSP00000447407:S64G;ENSP00000449215:S64G;ENSP00000377249:S64G;ENSP00000446635:S64G	.	S	+	1	0	MON2	61173976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.163000	0.67991	0.482000	0.46254	AGC	.		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
MTFR2	113115	hgsc.bcm.edu;bcgsc.ca	37	6	136564084	136564084	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:136564084A>G	ENST00000420702.1	-	4	585	c.196T>C	c.(196-198)Tct>Cct	p.S66P	MTFR2_ENST00000451457.2_Missense_Mutation_p.S66P	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	66					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											CAATTATCAGAGTCTACAGAG	0.378																																					p.S66P		.											.	.	.	0			c.T196C						.						87.0	87.0	87.0					6																	136564084		2203	4300	6503	SO:0001583	missense	113115	exon4			TATCAGAGTCTAC	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.196T>C	6.37:g.136564084A>G	ENSP00000395232:p.Ser66Pro	71.0	0.0		56.0	4.0	NM_138419	A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	A	9.562	1.118771	0.20877	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.46819	0.86;0.86;0.86	5.62	-2.01	0.07410	.	0.962031	0.08693	N	0.907605	T	0.09992	0.0245	N	0.17564	0.495	0.09310	N	1	B	0.16166	0.016	B	0.17979	0.02	T	0.31586	-0.9938	10	0.27785	T	0.31	-1.7625	4.9444	0.13982	0.4544:0.2768:0.2688:0.0	.	66	Q6P444	FA54A_HUMAN	P	66;66;23	ENSP00000407010:S66P;ENSP00000395232:S66P;ENSP00000410861:S23P	ENSP00000410861:S23P	S	-	1	0	FAM54A	136605777	0.000000	0.05858	0.027000	0.17364	0.661000	0.39034	-0.044000	0.12023	-0.208000	0.10171	0.533000	0.62120	TCT	.		0.378	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419	
MYO18A	399687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	27414105	27414105	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:27414105T>A	ENST00000527372.1	-	38	5741	c.5561A>T	c.(5560-5562)aAg>aTg	p.K1854M	TIAF1_ENST00000408971.2_De_novo_Start_InFrame|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.K1854M|MYO18A_ENST00000354329.4_Missense_Mutation_p.K1854M|MYO18A_ENST00000533112.1_Missense_Mutation_p.K1817M	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1854					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCAGTCAGCTTCTCCATGTT	0.592																																					p.K1854M	Esophageal Squamous(182;472 2015 7001 15270 22562)	.											.	MYO18A	22	0			c.A5561T						.						97.0	101.0	100.0					17																	27414105		2042	4191	6233	SO:0001583	missense	399687	exon38			GTCAGCTTCTCCA	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5561A>T	17.37:g.27414105T>A	ENSP00000437073:p.Lys1854Met	174.0	0.0		144.0	52.0	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.917267|4.917267	0.92249|0.92249	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	D;D;D;D|.	0.90197|.	-2.4;-2.63;-2.38;-2.4|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75903|0.75903	0.3913|0.3913	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.998|.	T|T	0.77083|0.77083	-0.2719|-0.2719	10|5	0.87932|.	D|.	0|.	.|.	15.5158|15.5158	0.75822|0.75822	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1457;1817;1854;1854|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	M|C	1854;1817;1817;1854;1854;750;750;1457;135|117	ENSP00000346291:K1854M;ENSP00000435932:K1817M;ENSP00000434228:K1854M;ENSP00000437073:K1854M|.	ENSP00000346291:K1854M|.	K|S	-|-	2|1	0|0	MYO18A|MYO18A	24438231|24438231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.217000|7.217000	0.77982|0.77982	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	AAG|AGC	.		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
MTMR4	9110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	56586080	56586080	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:56586080A>G	ENST00000323456.5	-	6	540	c.416T>C	c.(415-417)cTg>cCg	p.L139P	MTMR4_ENST00000579925.1_Missense_Mutation_p.L139P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	139					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCTCGGTCAGCCCCAGGCA	0.577																																					p.L139P		.											.	MTMR4	91	0			c.T416C						.						75.0	59.0	64.0					17																	56586080		2203	4300	6503	SO:0001583	missense	9110	exon6			TCGGTCAGCCCCA	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.416T>C	17.37:g.56586080A>G	ENSP00000325285:p.Leu139Pro	118.0	0.0		86.0	26.0	NM_004687	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778475	0.31502	.	.	ENSG00000108389	ENST00000323456	D	0.93712	-3.27	5.91	5.91	0.95273	.	0.316163	0.29995	N	0.010672	D	0.92446	0.7602	L	0.40543	1.245	0.80722	D	1	D	0.54397	0.966	P	0.49421	0.61	D	0.93097	0.6505	10	0.66056	D	0.02	.	15.5248	0.75894	1.0:0.0:0.0:0.0	.	139	Q9NYA4	MTMR4_HUMAN	P	139	ENSP00000325285:L139P	ENSP00000325285:L139P	L	-	2	0	MTMR4	53941079	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.881000	0.48538	2.269000	0.75478	0.533000	0.62120	CTG	.		0.577	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
MYO9A	4649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	72119321	72119321	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr15:72119321C>T	ENST00000356056.5	-	42	7719	c.7247G>A	c.(7246-7248)cGa>cAa	p.R2416Q	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2487Q|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2397Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2416	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAGTTGCTTTCGCAACTTGCT	0.438																																					p.R2416Q		.											.	MYO9A	93	0			c.G7247A						.						60.0	62.0	61.0					15																	72119321		2199	4297	6496	SO:0001583	missense	4649	exon42			TGCTTTCGCAACT	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7247G>A	15.37:g.72119321C>T	ENSP00000348349:p.Arg2416Gln	59.0	0.0		59.0	7.0	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.254107	0.39896	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.90563	-2.64;-2.69;-2.63	5.55	2.66	0.31614	.	.	.	.	.	D	0.85986	0.5825	L	0.51422	1.61	0.22424	N	0.999114	B;B	0.25312	0.123;0.052	B;B	0.14023	0.01;0.008	T	0.74321	-0.3703	9	0.44086	T	0.13	.	8.7956	0.34876	0.0:0.712:0.0:0.288	.	2416;2180	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	Q	2416;2487;2397	ENSP00000348349:R2416Q;ENSP00000399162:R2487Q;ENSP00000398250:R2397Q	ENSP00000348349:R2416Q	R	-	2	0	MYO9A	69906375	0.032000	0.19561	0.123000	0.21794	0.825000	0.46686	0.720000	0.25896	0.303000	0.22785	-0.137000	0.14449	CGA	.		0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
NALCN	259232	hgsc.bcm.edu;bcgsc.ca	37	13	102047689	102047689	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr13:102047689C>A	ENST00000251127.6	-	3	217	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	NALCN_ENST00000376200.5_Missense_Mutation_p.A46S|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A46S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	46					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGATGATGGCACAGATGCGC	0.423																																					p.A46S		.											.	NALCN	167	0			c.G136T						.						129.0	105.0	113.0					13																	102047689		2203	4300	6503	SO:0001583	missense	259232	exon3			TGATGGCACAGAT	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.136G>T	13.37:g.102047689C>A	ENSP00000251127:p.Ala46Ser	89.0	0.0		64.0	4.0	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843579	0.91197	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.97404	-4.37;-4.37;-4.37	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	L	0.56769	1.78	0.80722	D	1	P;P	0.41929	0.765;0.765	B;B	0.43052	0.353;0.406	D	0.95560	0.8628	10	0.35671	T	0.21	.	19.7619	0.96323	0.0:1.0:0.0:0.0	.	46;46	F2Z323;Q8IZF0	.;NALCN_HUMAN	S	46	ENSP00000251127:A46S;ENSP00000365367:A46S;ENSP00000365373:A46S	ENSP00000251127:A46S	A	-	1	0	NALCN	100845690	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.681000	0.91329	0.561000	0.74099	GCC	.		0.423	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NBEAL2	23218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	47043918	47043918	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:47043918A>T	ENST00000450053.3	+	32	5388	c.5209A>T	c.(5209-5211)Atg>Ttg	p.M1737L	NBEAL2_ENST00000383740.2_Missense_Mutation_p.M16L|NBEAL2_ENST00000292309.5_Missense_Mutation_p.M1553L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1737					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCACGACCTTATGTCAGGTTT	0.587																																					p.M1737L		.											.	NBEAL2	69	0			c.A5209T						.						75.0	77.0	76.0					3																	47043918		2099	4206	6305	SO:0001583	missense	23218	exon32			GACCTTATGTCAG	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5209A>T	3.37:g.47043918A>T	ENSP00000415034:p.Met1737Leu	92.0	0.0		91.0	26.0	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	25.8|25.8|25.8	4.679318|4.679318|4.679318	0.88542|0.88542|0.88542	.|.|.	.|.|.	ENSG00000160796|ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000383740;ENST00000450053|ENST00000443829	T|T;T;T|.	0.58060|0.56776|.	0.36|0.5;1.14;0.44|.	4.84|4.84|4.84	4.84|4.84|4.84	0.62591|0.62591|0.62591	.|.|.	.|0.046774|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.63498|0.63498|0.63498	0.2516|0.2516|0.2516	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.53688|0.53688|0.53688	D|D|D	0.999971|0.999971|0.999971	.|B;P|.	.|0.34462|.	.|0.264;0.454|.	.|B;B|.	.|0.37601|.	.|0.082;0.254|.	T|T|T	0.62091|0.62091|0.62091	-0.6927|-0.6927|-0.6927	7|10|5	0.54805|0.36615|.	T|T|.	0.06|0.2|.	.|.|.	13.4524|13.4524|13.4524	0.61178|0.61178|0.61178	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|1553;1737|.	.|Q6ZNJ1-2;Q6ZNJ1|.	.|.;NBEL2_HUMAN|.	F|L|F	1024|1553;16;1737|105	ENSP00000410405:L1024F|ENSP00000292309:M1553L;ENSP00000373246:M16L;ENSP00000415034:M1737L|.	ENSP00000410405:L1024F|ENSP00000292309:M1553L|.	L|M|Y	+|+|+	3|1|2	2|0|0	NBEAL2|NBEAL2|NBEAL2	47018922|47018922|47018922	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.974000|0.974000|0.974000	0.67602|0.67602|0.67602	9.106000|9.106000|9.106000	0.94253|0.94253|0.94253	2.045000|2.045000|2.045000	0.60652|0.60652|0.60652	0.529000|0.529000|0.529000	0.55759|0.55759|0.55759	TTA|ATG|TAT	.		0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
NFATC3	4775	hgsc.bcm.edu;bcgsc.ca	37	16	68208375	68208375	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:68208375T>C	ENST00000346183.3	+	6	1897	c.1873T>C	c.(1873-1875)Ttt>Ctt	p.F625L	NFATC3_ENST00000575270.1_Missense_Mutation_p.F625L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000349223.5_Missense_Mutation_p.F625L|NFATC3_ENST00000329524.4_Missense_Mutation_p.F625L	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	625					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGATCTAATTTTCTTCCAGA	0.358																																					p.F625L		.											.	NFATC3	92	0			c.T1873C						.						153.0	160.0	157.0					16																	68208375		2198	4300	6498	SO:0001583	missense	4775	exon6			TCTAATTTTCTTC	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1873T>C	16.37:g.68208375T>C	ENSP00000300659:p.Phe625Leu	104.0	0.0		74.0	4.0	NM_173163	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462054	0.43736	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.15372	2.43;2.43;2.44	5.62	4.53	0.55603	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048303	0.85682	D	0.000000	T	0.41465	0.1160	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.71674	0.998;0.961;0.998;0.998	D;B;D;D	0.70716	0.97;0.253;0.97;0.97	T	0.31806	-0.9930	10	0.56958	D	0.05	-16.6876	11.4406	0.50094	0.0:0.0703:0.0:0.9297	.	625;625;625;625	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	L	625;625;625;146	ENSP00000264008:F625L;ENSP00000300659:F625L;ENSP00000331324:F625L	ENSP00000331324:F625L	F	+	1	0	NFATC3	66765876	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	5.030000	0.64128	0.980000	0.38523	-0.353000	0.07706	TTT	.		0.358	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	
NFE2L1	4779	hgsc.bcm.edu;bcgsc.ca	37	17	46128683	46128683	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:46128683A>G	ENST00000362042.3	+	2	819	c.203A>G	c.(202-204)cAc>cGc	p.H68R	NFE2L1_ENST00000361665.3_Missense_Mutation_p.H68R|NFE2L1_ENST00000357480.5_Missense_Mutation_p.H68R|NFE2L1_ENST00000585291.1_Missense_Mutation_p.H68R	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	68					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGGTATCCACCCCAAGAGC	0.567																																					p.H68R		.											.	NFE2L1	91	0			c.A203G						.						107.0	103.0	104.0					17																	46128683		2203	4300	6503	SO:0001583	missense	4779	exon2			GTATCCACCCCAA	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.203A>G	17.37:g.46128683A>G	ENSP00000354855:p.His68Arg	99.0	0.0		81.0	4.0	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727972	0.30593	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.26373	2.16;1.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.984;0.999;1.0	D;D;D	0.85130	0.964;0.994;0.997	T	0.57825	-0.7744	10	0.87932	D	0	-21.2442	13.8987	0.63790	1.0:0.0:0.0:0.0	.	68;68;68	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	R	87;68;68	ENSP00000355190:H68R;ENSP00000350072:H68R	ENSP00000350072:H68R	H	+	2	0	NFE2L1	43483682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.236000	0.95360	1.938000	0.56188	0.460000	0.39030	CAC	.		0.567	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
NFRKB	4798	hgsc.bcm.edu;bcgsc.ca	37	11	129752348	129752348	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:129752348T>C	ENST00000446488.3	-	9	1183	c.1080A>G	c.(1078-1080)gaA>gaG	p.E360E	NFRKB_ENST00000524794.1_Silent_p.E385E|NFRKB_ENST00000524746.1_Silent_p.E360E|NFRKB_ENST00000304521.5_Silent_p.E360E	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	360					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCACTTACTCTTCCTTGATAG	0.547																																					p.E385E		.											.	NFRKB	93	0			c.A1155G						.						122.0	125.0	124.0					11																	129752348		2201	4297	6498	SO:0001819	synonymous_variant	4798	exon8			TTACTCTTCCTTG		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1080A>G	11.37:g.129752348T>C		96.0	0.0		120.0	6.0	NM_006165	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	CCDS44770.1																																																																																			.		0.547	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	
NLRC5	84166	hgsc.bcm.edu;bcgsc.ca	37	16	57067552	57067552	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:57067552A>G	ENST00000262510.6	+	12	2739	c.2514A>G	c.(2512-2514)aaA>aaG	p.K838K	NLRC5_ENST00000436936.1_Silent_p.K838K|NLRC5_ENST00000308149.7_Silent_p.K838K|NLRC5_ENST00000539144.1_Silent_p.K838K	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	838					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCAGAGGAAAGGGGCTCAGA	0.557																																					p.K838K		.											.	NLRC5	159	0			c.A2514G						.						101.0	93.0	96.0					16																	57067552		2198	4300	6498	SO:0001819	synonymous_variant	84166	exon11			GAGGAAAGGGGCT	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2514A>G	16.37:g.57067552A>G		67.0	0.0		70.0	4.0	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	0.049	-1.255598	0.01457	.	.	ENSG00000140853	ENST00000538805	.	.	.	3.98	1.45	0.22620	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.20196	N	0.99993	.	.	.	.	.	.	T	0.23404	-1.0189	4	.	.	.	.	5.2672	0.15605	0.6982:0.0:0.3018:0.0	.	.	.	.	G	591	.	.	R	+	1	2	NLRC5	55625053	0.931000	0.31567	0.018000	0.16275	0.053000	0.15095	0.013000	0.13310	0.264000	0.21851	-0.274000	0.10170	AGG	.		0.557	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
NIP7	51388	hgsc.bcm.edu;bcgsc.ca	37	16	69375544	69375544	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:69375544A>G	ENST00000254940.5	+	5	932	c.532A>G	c.(532-534)Acg>Gcg	p.T178A	COG8_ENST00000562081.1_5'Flank|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.T131A|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000306875.4_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	178	C-terminal domain.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GCATGAAGAGACGTTGACTTA	0.468																																					p.T178A		.											.	NIP7	153	0			c.A532G						.						146.0	143.0	144.0					16																	69375544		2198	4300	6498	SO:0001583	missense	51388	exon5			GAAGAGACGTTGA	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.532A>G	16.37:g.69375544A>G	ENSP00000254940:p.Thr178Ala	137.0	0.0		84.0	5.0	NM_016101	B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386563	0.42308	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.44	5.44	0.79542	.	0.047928	0.85682	D	0.000000	T	0.60287	0.2257	L	0.59436	1.845	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.14578	0.011;0.003	T	0.57195	-0.7853	9	0.41790	T	0.15	0.2163	15.7961	0.78412	1.0:0.0:0.0:0.0	.	131;178	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	A	178;131	.	ENSP00000254940:T178A	T	+	1	0	NIP7	67933045	1.000000	0.71417	0.993000	0.49108	0.568000	0.35870	6.962000	0.76048	2.188000	0.69820	0.459000	0.35465	ACG	.		0.468	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101	
NLRP5	126206	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56565030	56565030	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:56565030C>T	ENST00000390649.3	+	13	3155	c.3155C>T	c.(3154-3156)gCg>gTg	p.A1052V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1052					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCGCCGCGTGCTGTGAG	0.582																																					p.A1052V		.											.	NLRP5	162	0			c.C3155T						.						69.0	68.0	68.0					19																	56565030		2051	4195	6246	SO:0001583	missense	126206	exon13			CCGCCGCGTGCTG	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3155C>T	19.37:g.56565030C>T	ENSP00000375063:p.Ala1052Val	131.0	1.0		151.0	21.0	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868560	0.17322	.	.	ENSG00000171487	ENST00000390649	T	0.13778	2.56	3.5	-0.105	0.13601	.	1.717960	0.03712	N	0.250495	T	0.09379	0.0231	L	0.31371	0.925	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.30504	-0.9976	10	0.27785	T	0.31	.	5.9809	0.19407	0.3865:0.4252:0.1882:0.0	.	1052	P59047	NALP5_HUMAN	V	1052	ENSP00000375063:A1052V	ENSP00000375063:A1052V	A	+	2	0	NLRP5	61256842	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.289000	0.08365	0.074000	0.16767	-0.158000	0.13435	GCG	.		0.582	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
NRXN1	9378	hgsc.bcm.edu;bcgsc.ca	37	2	51254792	51254792	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:51254792T>C	ENST00000406316.2	-	2	2096	c.620A>G	c.(619-621)gAg>gGg	p.E207G	NRXN1_ENST00000405472.3_Missense_Mutation_p.E207G|NRXN1_ENST00000405581.1_Missense_Mutation_p.E207G|NRXN1_ENST00000402717.3_Missense_Mutation_p.E207G|NRXN1_ENST00000406859.3_Missense_Mutation_p.E207G|NRXN1_ENST00000401669.2_Missense_Mutation_p.E207G|NRXN1_ENST00000404971.1_Missense_Mutation_p.E207G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	207	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTGGGCGGCTCATCGTCCAG	0.697																																					p.E207G		.											.	NRXN1	92	0			c.A620G						.						18.0	23.0	21.0					2																	51254792		2050	4175	6225	SO:0001583	missense	9378	exon2			GGCGGCTCATCGT	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.620A>G	2.37:g.51254792T>C	ENSP00000384311:p.Glu207Gly	119.0	0.0		114.0	5.0	NM_004801	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976948	0.74360	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.71461	0.12;0.11;-0.57;-0.46;-0.17;-0.03;3.32	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.835445	0.09637	U	0.775557	D	0.82783	0.5112	M	0.65975	2.015	0.42561	D	0.993145	B;D;B	0.67145	0.0;0.996;0.001	B;D;B	0.66497	0.002;0.944;0.002	T	0.76515	-0.2931	10	0.36615	T	0.2	.	15.6222	0.76816	0.0:0.0:0.0:1.0	.	207;207;207	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	G	207	ENSP00000385142:E207G;ENSP00000384311:E207G;ENSP00000434015:E207G;ENSP00000385017:E207G;ENSP00000385434:E207G;ENSP00000385681:E207G;ENSP00000385310:E207G	ENSP00000385017:E207G	E	-	2	0	NRXN1	51108296	0.995000	0.38212	1.000000	0.80357	0.895000	0.52256	4.129000	0.57957	2.087000	0.62958	0.460000	0.39030	GAG	.		0.697	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NUDC	10726	hgsc.bcm.edu;bcgsc.ca	37	1	27269479	27269479	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:27269479C>A	ENST00000321265.5	+	6	787	c.664C>A	c.(664-666)Ctc>Atc	p.L222I		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	222	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		TGATGGGGAGCTCTACAATGA	0.587																																					p.L222I		.											.	NUDC	91	0			c.C664A						.						99.0	100.0	99.0					1																	27269479		2203	4300	6503	SO:0001583	missense	10726	exon6			GGGGAGCTCTACA		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.664C>A	1.37:g.27269479C>A	ENSP00000319664:p.Leu222Ile	110.0	0.0		72.0	4.0	NM_006600	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	CCDS292.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435768	0.83885	.	.	ENSG00000090273	ENST00000321265	T	0.53857	0.6	5.24	5.24	0.73138	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	H	0.97440	4.005	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.79784	0.993;0.975	D	0.87208	0.2245	9	.	.	.	0.1555	13.2132	0.59836	0.0:0.9235:0.0:0.0765	.	173;222	Q9H2R7;Q9Y266	.;NUDC_HUMAN	I	222	ENSP00000319664:L222I	.	L	+	1	0	NUDC	27142066	0.969000	0.33509	0.994000	0.49952	0.743000	0.42351	2.330000	0.43885	2.473000	0.83533	0.449000	0.29647	CTC	.		0.587	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2		
ODF2	4957	hgsc.bcm.edu;bcgsc.ca	37	9	131231625	131231625	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:131231625A>G	ENST00000434106.3	+	5	776	c.413A>G	c.(412-414)aAg>aGg	p.K138R	RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Missense_Mutation_p.K182R|ODF2_ENST00000372791.3_Missense_Mutation_p.K119R|ODF2_ENST00000393533.2_Missense_Mutation_p.K138R|ODF2_ENST00000372807.5_Missense_Mutation_p.K133R|ODF2_ENST00000546203.1_Missense_Mutation_p.K119R|ODF2_ENST00000393527.3_Missense_Mutation_p.K114R|ODF2_ENST00000444119.2_Missense_Mutation_p.K114R|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000604420.1_Missense_Mutation_p.K138R|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.K133R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	138					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGTTGTCTGAAGTCTGAGGTG	0.498																																					p.K202R		.											.	ODF2	69	0			c.A605G						.						152.0	142.0	145.0					9																	131231625		2203	4300	6503	SO:0001583	missense	4957	exon5			GTCTGAAGTCTGA	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.413A>G	9.37:g.131231625A>G	ENSP00000403453:p.Lys138Arg	89.0	0.0		63.0	4.0	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370217	0.82573	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000372791	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.97	5.97	0.96955	.	0.042327	0.85682	D	0.000000	T	0.81607	0.4858	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.999;0.998;0.998;0.998;0.996;0.999;0.984	T	0.81957	-0.0695	10	0.51188	T	0.08	-29.8851	15.2656	0.73657	1.0:0.0:0.0:0.0	.	119;133;72;138;133;119;138;114	Q5BJF6-8;Q5BJF6-4;Q5BJF6-2;B4DX73;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	R	138;182;133;138;114;114;138;119;119;119	ENSP00000377166:K138R;ENSP00000361901:K182R;ENSP00000342581:K133R;ENSP00000361882:K138R;ENSP00000307781:K114R;ENSP00000394506:K114R;ENSP00000403453:K138R;ENSP00000437579:K119R;ENSP00000415290:K119R;ENSP00000361877:K119R	ENSP00000307781:K114R	K	+	2	0	ODF2	130271446	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.649000	0.74364	2.285000	0.76669	0.477000	0.44152	AAG	.		0.498	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
OPRL1	4987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	62729930	62729930	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr20:62729930C>T	ENST00000349451.3	+	6	1303	c.891C>T	c.(889-891)gcC>gcT	p.A297A	OPRL1_ENST00000336866.2_Silent_p.A297A|OPRL1_ENST00000355631.4_Silent_p.A297A	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	297					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCGAGACTGCCGTGGCCATTC	0.632																																					p.A297A		.											.	OPRL1	69	0			c.C891T						.						81.0	68.0	73.0					20																	62729930		2201	4295	6496	SO:0001819	synonymous_variant	4987	exon4			GACTGCCGTGGCC		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.891C>T	20.37:g.62729930C>T		104.0	0.0		96.0	38.0	NM_000913	Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1																																																																																			.		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
OR2W5	441932	broad.mit.edu;bcgsc.ca	37	1	247654704	247654704	+	RNA	SNP	T	T	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:247654704T>A	ENST00000522351.1	+	0	335							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGAAGACCATCACCTACCAC	0.537																																					p.I92N		.											.	OR2W5	115	0			c.T275A						.						89.0	90.0	90.0					1																	247654704		2203	4300	6503			441932	exon1			AGACCATCACCTA			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654704T>A		117.0	1.0		158.0	13.0	NM_001004698	B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37																																																																																				.		0.537	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
OR51B4	79339	hgsc.bcm.edu;bcgsc.ca	37	11	5322255	5322255	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:5322255T>C	ENST00000380224.1	-	1	971	c.922A>G	c.(922-924)Agt>Ggt	p.S308G	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	308					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCCCTACTCTGCCCAGAA	0.403																																					p.S308G		.											.	OR51B4	70	0			c.A922G						.						49.0	49.0	49.0					11																	5322255		2201	4297	6498	SO:0001583	missense	79339	exon1			CCCTACTCTGCCC	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.922A>G	11.37:g.5322255T>C	ENSP00000369573:p.Ser308Gly	84.0	0.0		72.0	4.0	NM_033179	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	T	4.688	0.127852	0.08981	.	.	ENSG00000183251	ENST00000380224	T	0.00005	9.78	4.01	1.67	0.24075	.	1.351800	0.05103	N	0.487474	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.14578	0.011	T	0.01228	-1.1412	10	0.32370	T	0.25	.	5.6113	0.17406	0.0:0.2286:0.0:0.7714	.	308	Q9Y5P0	O51B4_HUMAN	G	308	ENSP00000369573:S308G	ENSP00000369573:S308G	S	-	1	0	OR51B4	5278831	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.894000	0.28350	0.238000	0.21222	-0.256000	0.11100	AGT	.		0.403	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179	
OR4B1	119765	hgsc.bcm.edu;bcgsc.ca	37	11	48239231	48239231	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:48239231A>G	ENST00000309562.2	+	1	888	c.870A>G	c.(868-870)gcA>gcG	p.A290A		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGGAATGCAGAGGTGAAAA	0.433																																					p.A290A		.											.	OR4B1	72	0			c.A870G						.						73.0	68.0	70.0					11																	48239231		2201	4298	6499	SO:0001819	synonymous_variant	119765	exon1			GAATGCAGAGGTG	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.870A>G	11.37:g.48239231A>G		61.0	0.0		74.0	4.0	NM_001005470	Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	CCDS31485.1																																																																																			.		0.433	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
OR9A4	130075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	141619595	141619595	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:141619595G>T	ENST00000548136.1	+	1	979	c.920G>T	c.(919-921)cGc>cTc	p.R307L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GGGGTGAAACGCTGCTGTCAA	0.428																																					p.R307L		.											.	OR9A4	91	0			c.G920T						.						93.0	94.0	94.0					7																	141619595		2045	4228	6273	SO:0001583	missense	130075	exon1			TGAAACGCTGCTG		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.920G>T	7.37:g.141619595G>T	ENSP00000448789:p.Arg307Leu	69.0	0.0		61.0	24.0	NM_001001656	B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612135	0.28712	.	.	ENSG00000258083	ENST00000548136	T	0.38560	1.13	3.71	-2.07	0.07276	.	.	.	.	.	T	0.34221	0.0890	L	0.42008	1.315	0.09310	N	1	B	0.19200	0.034	B	0.22601	0.04	T	0.40572	-0.9556	9	0.87932	D	0	-0.0715	10.694	0.45888	0.2205:0.0:0.7795:0.0	.	307	Q8NGU2	OR9A4_HUMAN	L	307	ENSP00000448789:R307L	ENSP00000386148:R307L	R	+	2	0	OR9A4	141266064	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.804000	0.04535	-0.394000	0.07727	-0.423000	0.05987	CGC	.		0.428	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
PCDHA11	56138	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	140250200	140250200	+	Silent	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:140250200G>A	ENST00000398640.2	+	1	1512	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCTGTCGAGCTACGTGT	0.692																																					p.S504S		.											.	PCDHA11	67	0			c.G1512A						.						61.0	67.0	65.0					5																	140250200		2203	4298	6501	SO:0001819	synonymous_variant	56138	exon1			GCTGTCGAGCTAC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1512G>A	5.37:g.140250200G>A		114.0	0.0		142.0	11.0	NM_018902	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																			.		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PES1	23481	hgsc.bcm.edu;bcgsc.ca	37	22	30975865	30975865	+	Silent	SNP	G	G	T	rs200700442|rs140808409	byFrequency	TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr22:30975865G>T	ENST00000405677.1	-	14	1753	c.810C>A	c.(808-810)ccC>ccA	p.P270P	PES1_ENST00000402281.1_Silent_p.P270P|PES1_ENST00000354694.7_Silent_p.P409P|PES1_ENST00000335214.6_Silent_p.P404P|PES1_ENST00000402284.3_Silent_p.P392P	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ACTCTGCCACGGGGAGAAGGA	0.582																																					p.P409P		.											.	PES1	90	0			c.C1227A						.						88.0	93.0	92.0					22																	30975865		2203	4300	6503	SO:0001819	synonymous_variant	23481	exon12			TGCCACGGGGAGA	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.810C>A	22.37:g.30975865G>T		79.0	0.0		81.0	6.0	NM_014303		Silent	SNP	ENST00000405677.1	37		.	.	.	.	.	.	.	.	.	.	G	9.288	1.049937	0.19827	.	.	ENSG00000100029	ENST00000441668	.	.	.	4.89	-9.78	0.00496	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55872	-0.8072	4	.	.	.	-10.6129	8.5608	0.33509	0.6373:0.2022:0.0906:0.0699	.	.	.	.	S	16	.	.	R	-	1	0	PES1	29305865	0.000000	0.05858	0.638000	0.29380	0.978000	0.69477	-3.878000	0.00344	-2.072000	0.00879	-0.878000	0.02970	CGT	G|0.980;A|0.020		0.582	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303	
PEX6	5190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	42933450	42933450	+	Nonsense_Mutation	SNP	G	G	A	rs267608241		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:42933450G>A	ENST00000304611.8	-	13	2509	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	PEX6_ENST00000244546.4_Silent_p.G731G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	814					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCTCCACTTCGCCCCCGGCTT	0.562																																					p.R814X		.											.	PEX6	91	0			c.C2440T						.						160.0	177.0	171.0					6																	42933450		2203	4300	6503	SO:0001587	stop_gained	5190	exon13			CACTTCGCCCCCG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2440C>T	6.37:g.42933450G>A	ENSP00000303511:p.Arg814*	148.0	0.0		184.0	17.0	NM_000287	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Nonsense_Mutation	SNP	ENST00000304611.8	37	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	G	40	8.021076	0.98613	.	.	ENSG00000124587	ENST00000304611	.	.	.	5.76	5.76	0.90799	.	0.109084	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5604	14.4359	0.67279	0.0:0.0:0.8525:0.1474	.	.	.	.	X	814	.	ENSP00000303511:R814X	R	-	1	2	PEX6	43041428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.022000	0.57203	2.724000	0.93272	0.563000	0.77884	CGA	.		0.562	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
PHLPP1	23239	hgsc.bcm.edu;bcgsc.ca	37	18	60642674	60642674	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr18:60642674T>C	ENST00000262719.5	+	16	4034	c.3800T>C	c.(3799-3801)cTt>cCt	p.L1267P	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L755P			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1267	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCCGCTGTCCTTTGTCATATC	0.522																																					p.L1267P		.											.	.	.	0			c.T3800C						.						157.0	151.0	153.0					18																	60642674		2034	4182	6216	SO:0001583	missense	23239	exon16			CTGTCCTTTGTCA	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3800T>C	18.37:g.60642674T>C	ENSP00000262719:p.Leu1267Pro	145.0	0.0		141.0	6.0	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796057	0.90453	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.19532	2.14;2.14	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.43634	0.1256	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18871	-1.0323	9	0.38643	T	0.18	-12.2446	15.374	0.74590	0.0:0.0:0.0:1.0	.	1267	O60346	PHLP1_HUMAN	P	755;1267	ENSP00000383170:L755P;ENSP00000262719:L1267P	ENSP00000262719:L1267P	L	+	2	0	PHLPP1	58793654	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.841000	0.86834	2.220000	0.72140	0.454000	0.30748	CTT	.		0.522	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
PKD1	5310	hgsc.bcm.edu;bcgsc.ca	37	16	2147400	2147400	+	Missense_Mutation	SNP	G	G	A	rs144593342	byFrequency	TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:2147400G>A	ENST00000262304.4	-	33	10533	c.10325C>T	c.(10324-10326)gCg>gTg	p.A3442V	RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3441V|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3442					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCATGGCCCGCCTGGCCCCG	0.672													g|||	5	0.000998403	0.0038	0.0	5008	,	,		14250	0.0		0.0	False		,,,				2504	0.0				p.A3442V		.											.	PKD1	91	0			c.C10325T						.	G	VAL/ALA,VAL/ALA	18,4368		0,18,2175	20.0	23.0	22.0		10322,10325	-0.3	0.0	16	dbSNP_134	22	0,8592		0,0,4296	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	0,18,6471	AA,AG,GG		0.0,0.4104,0.1387	benign,benign	3441/4303,3442/4304	2147400	18,12960	2193	4296	6489	SO:0001583	missense	5310	exon33			TGGCCCGCCTGGC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10325C>T	16.37:g.2147400G>A	ENSP00000262304:p.Ala3442Val	31.0	0.0		18.0	4.0	NM_001009944	Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	CCDS32369.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	7.095	0.572995	0.13623	0.004104	0.0	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.37584	1.19;1.19	4.08	-0.316	0.12743	.	2.246270	0.01888	N	0.038332	T	0.16171	0.0389	N	0.24115	0.695	0.09310	N	1	P;P	0.40794	0.68;0.729	B;B	0.28553	0.091;0.053	T	0.27157	-1.0082	10	0.32370	T	0.25	.	9.7501	0.40470	0.2707:0.0:0.7293:0.0	.	3441;3442	P98161-3;P98161	.;PKD1_HUMAN	V	3442;3441;2776	ENSP00000262304:A3442V;ENSP00000399501:A3441V	ENSP00000262304:A3442V	A	-	2	0	PKD1	2087401	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.259000	0.18405	-0.236000	0.09753	0.561000	0.74099	GCG	G|0.998;A|0.002		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
PKD2L2	27039	hgsc.bcm.edu;bcgsc.ca	37	5	137271514	137271514	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:137271514A>G	ENST00000508883.1	+	13	1726	c.1700A>G	c.(1699-1701)aAa>aGa	p.K567R	PKD2L2_ENST00000508638.1_Missense_Mutation_p.K466R|PKD2L2_ENST00000502810.1_Missense_Mutation_p.K545R|PKD2L2_ENST00000290431.5_Missense_Mutation_p.K567R|PKD2L2_ENST00000350250.4_Missense_Mutation_p.K533R			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	567					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGATGAAAAAATGGAAAGAG	0.388																																					p.K567R		.											.	PKD2L2	90	0			c.A1700G						.						77.0	75.0	76.0					5																	137271514		1839	4104	5943	SO:0001583	missense	27039	exon13			TGAAAAAATGGAA	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1700A>G	5.37:g.137271514A>G	ENSP00000424725:p.Lys567Arg	71.0	0.0		92.0	4.0	NM_014386	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	A	10.86	1.469548	0.26423	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.72835	-0.31;0.21;-0.69;-0.23;-0.24	5.63	3.24	0.37175	.	0.157314	0.44688	N	0.000431	T	0.48333	0.1494	N	0.17474	0.49	0.23282	N	0.997982	B;B;B	0.17038	0.001;0.02;0.011	B;B;B	0.13407	0.002;0.008;0.009	T	0.25745	-1.0123	10	0.25106	T	0.35	-7.9694	5.5578	0.17125	0.7359:0.1739:0.0902:0.0	.	567;466;567	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	R	533;466;545;567;567	ENSP00000344177:K533R;ENSP00000423382:K466R;ENSP00000425513:K545R;ENSP00000424725:K567R;ENSP00000290431:K567R	ENSP00000290431:K567R	K	+	2	0	PKD2L2	137299413	0.977000	0.34250	0.980000	0.43619	0.991000	0.79684	1.162000	0.31786	0.505000	0.28104	-0.313000	0.08912	AAA	.		0.388	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
PKNOX1	5316	hgsc.bcm.edu;bcgsc.ca	37	21	44430256	44430256	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr21:44430256A>G	ENST00000291547.5	+	4	484	c.273A>G	c.(271-273)gtA>gtG	p.V91V	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	91					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GTTTTGATGTAGACATCGAAA	0.338																																					p.V91V		.											.	PKNOX1	153	0			c.A273G						.						68.0	67.0	67.0					21																	44430256		2203	4300	6503	SO:0001819	synonymous_variant	5316	exon4			TGATGTAGACATC		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.273A>G	21.37:g.44430256A>G		66.0	0.0		53.0	4.0	NM_004571	O00528|Q8IWT7	Silent	SNP	ENST00000291547.5	37	CCDS13692.1																																																																																			.		0.338	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3		
PPP2R2A	5520	hgsc.bcm.edu;bcgsc.ca	37	8	26227714	26227714	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:26227714A>G	ENST00000380737.3	+	10	1458	c.1129A>G	c.(1129-1131)Ata>Gta	p.I377V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I387V	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	377					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AAAGCGAGACATAACCCTAGA	0.413																																					p.I387V		.											.	PPP2R2A	659	0			c.A1159G						.						80.0	75.0	77.0					8																	26227714		2203	4300	6503	SO:0001583	missense	5520	exon10			CGAGACATAACCC	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1129A>G	8.37:g.26227714A>G	ENSP00000370113:p.Ile377Val	200.0	0.0		108.0	5.0	NM_001177591	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.634009	0.00806	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.39592	1.65;1.07;1.65	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.147313	0.44097	U	0.000491	T	0.18467	0.0443	N	0.02685	-0.53	0.38222	D	0.940789	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.16305	-1.0407	10	0.02654	T	1	-20.2723	15.6084	0.76692	1.0:0.0:0.0:0.0	.	387;377;378	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	V	377;156;387	ENSP00000370113:I377V;ENSP00000430320:I156V;ENSP00000325074:I387V	ENSP00000325074:I387V	I	+	1	0	PPP2R2A	26283631	0.932000	0.31603	1.000000	0.80357	0.997000	0.91878	1.432000	0.34936	2.326000	0.78906	0.533000	0.62120	ATA	.		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	
PPWD1	23398	hgsc.bcm.edu;bcgsc.ca	37	5	64868003	64868003	+	Missense_Mutation	SNP	T	T	C	rs373825399		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:64868003T>C	ENST00000261308.5	+	5	931	c.859T>C	c.(859-861)Tgt>Cgt	p.C287R	PPWD1_ENST00000538977.1_Missense_Mutation_p.C131R|PPWD1_ENST00000535264.1_Missense_Mutation_p.C257R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	287					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AACCAGCGTATGTTTTTCACC	0.338																																					p.C287R		.											.	PPWD1	91	0			c.T859C						.	T	ARG/CYS	1,4405	2.1+/-5.4	0,1,2202	65.0	71.0	68.0		859	5.6	1.0	5		68	0,8600		0,0,4300	no	missense	PPWD1	NM_015342.2	180	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	287/647	64868003	1,13005	2203	4300	6503	SO:0001583	missense	23398	exon5			AGCGTATGTTTTT	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.859T>C	5.37:g.64868003T>C	ENSP00000261308:p.Cys287Arg	84.0	0.0		75.0	4.0	NM_015342	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	9.671	1.146709	0.21288	2.27E-4	0.0	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.215721	0.48286	D	0.000195	T	0.35307	0.0927	N	0.05124	-0.11	0.58432	D	0.999994	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.19192	-1.0313	10	0.32370	T	0.25	.	11.5435	0.50679	0.1416:0.0:0.0:0.8584	.	257;287	F5H7P7;Q96BP3	.;PPWD1_HUMAN	R	287;257;131;206	ENSP00000261308:C287R;ENSP00000442371:C257R;ENSP00000444496:C131R;ENSP00000423234:C206R	ENSP00000261308:C287R	C	+	1	0	PPWD1	64903759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.444000	0.44890	2.125000	0.65367	0.459000	0.35465	TGT	.		0.338	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342	
PRPF8	10594	ucsc.edu;bcgsc.ca	37	17	1564444	1564444	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:1564444T>C	ENST00000572621.1	-	27	4616	c.4351A>G	c.(4351-4353)Aat>Gat	p.N1451D	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1451D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1451	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CAGAACGGATTCTGCTTCAAA	0.547																																					p.N1451D		.											.	PRPF8	525	0			c.A4351G						.						85.0	75.0	78.0					17																	1564444		2203	4300	6503	SO:0001583	missense	10594	exon28			ACGGATTCTGCTT	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4351A>G	17.37:g.1564444T>C	ENSP00000460348:p.Asn1451Asp	71.0	0.0		46.0	4.0	NM_006445	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	t	16.88	3.244581	0.59103	.	.	ENSG00000174231	ENST00000304992	T	0.80909	-1.43	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.78916	2.43	0.80722	D	1	P	0.52170	0.951	D	0.64237	0.923	D	0.89006	0.3425	10	0.48119	T	0.1	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1451	Q6P2Q9	PRP8_HUMAN	D	1451	ENSP00000304350:N1451D	ENSP00000304350:N1451D	N	-	1	0	PRPF8	1511194	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	8.013000	0.88655	2.371000	0.80710	0.533000	0.62120	AAT	.		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
PTPRB	5787	hgsc.bcm.edu;bcgsc.ca	37	12	70989899	70989899	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:70989899T>C	ENST00000261266.5	-	3	563	c.534A>G	c.(532-534)aaA>aaG	p.K178K	PTPRB_ENST00000538708.1_Silent_p.K178K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.K395K|PTPRB_ENST00000334414.6_Silent_p.K396K|PTPRB_ENST00000550358.1_Silent_p.K396K|PTPRB_ENST00000451516.2_Silent_p.K178K|PTPRB_ENST00000550857.1_Silent_p.K178K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	178	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAATATTGTATTTACTACCAG	0.333																																					p.K396K		.											.	PTPRB	226	0			c.A1188G						.						69.0	67.0	68.0					12																	70989899		1843	4086	5929	SO:0001819	synonymous_variant	5787	exon5			ATTGTATTTACTA	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.534A>G	12.37:g.70989899T>C		149.0	0.0		98.0	5.0	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																			.		0.333	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PXDN	7837	hgsc.bcm.edu;bcgsc.ca	37	2	1664712	1664712	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:1664712T>C	ENST00000252804.4	-	14	1828	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	593	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCCACACACTCATAGCGACC	0.537																																					p.E593G		.											.	PXDN	166	0			c.A1778G						.						97.0	102.0	100.0					2																	1664712		2055	4191	6246	SO:0001583	missense	7837	exon14			ACACACTCATAGC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1778A>G	2.37:g.1664712T>C	ENSP00000252804:p.Glu593Gly	78.0	0.0		75.0	4.0	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.65|17.65	3.442826|3.442826	0.63067|0.63067	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.77620|.	-1.11|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.063286|.	0.64402|.	N|.	0.000007|.	T|T	0.53110|0.53110	0.1776|0.1776	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.79108|.	0.991;0.992|.	T|T	0.50162|0.50162	-0.8860|-0.8860	10|5	0.87932|.	D|.	0|.	-46.6424|-46.6424	15.0638|15.0638	0.71977|0.71977	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	593;593|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	G|G	593|589	ENSP00000252804:E593G|.	ENSP00000252804:E593G|.	E|S	-|-	2|1	0|0	PXDN|PXDN	1643719|1643719	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.027000|0.027000	0.11550|0.11550	7.908000|7.908000	0.87438|0.87438	2.028000|2.028000	0.59812|0.59812	0.482000|0.482000	0.46254|0.46254	GAG|AGT	.		0.537	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
PZP	5858	hgsc.bcm.edu;bcgsc.ca	37	12	9318676	9318676	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:9318676T>C	ENST00000261336.2	-	18	2258	c.2230A>G	c.(2230-2232)Act>Gct	p.T744A	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.T613A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	744					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGATCCAAGTCTCAGGAAAA	0.428																																					p.T744A	Melanoma(125;1402 1695 4685 34487 38571)	.											.	PZP	157	0			c.A2230G						.						152.0	142.0	146.0					12																	9318676		2203	4300	6503	SO:0001583	missense	5858	exon18			TCCAAGTCTCAGG	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2230A>G	12.37:g.9318676T>C	ENSP00000261336:p.Thr744Ala	135.0	0.0		89.0	5.0	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818181	0.71028	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.29655	1.56;1.56	3.85	3.85	0.44370	Alpha-2-macroglobulin (1);	0.094329	0.44285	U	0.000465	T	0.56217	0.1970	M	0.87381	2.88	0.26229	N	0.979042	D;D;D	0.67145	0.976;0.996;0.995	D;D;D	0.68621	0.912;0.959;0.946	T	0.52653	-0.8547	10	0.62326	D	0.03	.	10.6921	0.45877	0.0:0.0:0.0:1.0	.	744;613;744	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	A	744;613	ENSP00000261336:T744A;ENSP00000371427:T613A	ENSP00000261336:T744A	T	-	1	0	PZP	9209943	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	4.955000	0.63638	1.707000	0.51288	0.383000	0.25322	ACT	.		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
QRSL1	55278	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	107113765	107113765	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:107113765A>G	ENST00000369046.4	+	11	1579	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ACAGTAGCCAAATGGTTTGAA	0.423																																					p.K492R	NSCLC(192;2127 2142 11668 26277 49545)	.											.	QRSL1	90	0			c.A1475G						.						66.0	61.0	63.0					6																	107113765		2203	4300	6503	SO:0001583	missense	55278	exon11			TAGCCAAATGGTT	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1475A>G	6.37:g.107113765A>G	ENSP00000358042:p.Lys492Arg	197.0	1.0		112.0	12.0	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.952966	0.34471	.	.	ENSG00000130348	ENST00000369046	T	0.29142	1.58	5.74	3.32	0.38043	.	0.249453	0.46442	N	0.000288	T	0.08492	0.0211	N	0.13235	0.315	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06862	-1.0803	10	0.66056	D	0.02	-21.1096	10.1846	0.42988	0.8629:0.0:0.1371:0.0	.	492	Q9H0R6	GATA_HUMAN	R	492	ENSP00000358042:K492R	ENSP00000358042:K492R	K	+	2	0	QRSL1	107220458	0.993000	0.37304	0.873000	0.34254	0.963000	0.63663	1.651000	0.37302	0.998000	0.38996	0.459000	0.35465	AAA	.		0.423	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292	
RASAL3	64926	hgsc.bcm.edu;bcgsc.ca	37	19	15569377	15569377	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:15569377A>G	ENST00000343625.7	-	7	837	c.752T>C	c.(751-753)cTg>cCg	p.L251P	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	251	PH.		L -> V (in dbSNP:rs58123634).		negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCTGGGGTGCAGTGGCCAGAT	0.642																																					p.L251P		.											.	.	.	0			c.T752C						.						40.0	45.0	43.0					19																	15569377		2095	4223	6318	SO:0001583	missense	64926	exon7			GGGTGCAGTGGCC		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.752T>C	19.37:g.15569377A>G	ENSP00000341905:p.Leu251Pro	113.0	0.0		95.0	6.0	NM_022904	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764256	0.69878	.	.	ENSG00000105122	ENST00000343625	D	0.92752	-3.1	4.47	4.47	0.54385	Pleckstrin homology domain (1);	0.000000	0.26948	U	0.021700	D	0.94042	0.8091	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.93341	0.6710	10	0.44086	T	0.13	.	11.6946	0.51536	1.0:0.0:0.0:0.0	.	251	Q86YV0	RASL3_HUMAN	P	251	ENSP00000341905:L251P	ENSP00000341905:L251P	L	-	2	0	RASAL3	15430377	0.709000	0.27886	0.994000	0.49952	0.560000	0.35617	4.484000	0.60271	1.662000	0.50781	0.402000	0.26972	CTG	.		0.642	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904	
RDH16	8608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	57351246	57351246	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr12:57351246T>C	ENST00000398138.3	-	1	857	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	1					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TAGAGCCACATGGCTTTGCAG	0.547																																					p.M1V	GBM(179;741 2921 43105 45298)	.											.	RDH16	90	0			c.A1G						.						57.0	60.0	59.0					12																	57351246		2203	4300	6503	SO:0001582	initiator_codon_variant	8608	exon1			GCCACATGGCTTT		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.1A>G	12.37:g.57351246T>C	ENSP00000381206:p.Met1Val	113.0	0.0		79.0	9.0	NM_003708	Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802684	0.50315	.	.	ENSG00000139547	ENST00000398138	D	0.88124	-2.34	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	D	0.90283	0.6961	.	.	.	0.80722	D	1	P	0.49783	0.928	P	0.54100	0.742	D	0.91272	0.5045	9	0.66056	D	0.02	.	13.3137	0.60394	0.0:0.0:0.0:1.0	.	1	O75452	RDH16_HUMAN	V	1	ENSP00000381206:M1V	ENSP00000381206:M1V	M	-	1	0	RDH16	55637513	0.995000	0.38212	0.955000	0.39395	0.138000	0.21146	1.413000	0.34725	1.981000	0.57761	0.533000	0.62120	ATG	.		0.547	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708	Missense_Mutation
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	72678720	72678720	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:72678720T>C	ENST00000521978.1	+	2	199	c.199T>C	c.(199-201)Tgc>Cgc	p.C67R	RIMS1_ENST00000264839.7_Missense_Mutation_p.C67R|RIMS1_ENST00000348717.5_Missense_Mutation_p.C67R|RIMS1_ENST00000517960.1_Missense_Mutation_p.C67R|RIMS1_ENST00000522291.1_Missense_Mutation_p.C67R|RIMS1_ENST00000518273.1_Missense_Mutation_p.C67R|RIMS1_ENST00000491071.2_Missense_Mutation_p.C67R|RIMS1_ENST00000520567.1_Missense_Mutation_p.C67R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	67	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCTGCTGCCTGCAAAACACC	0.448																																					p.C67R		.											.	RIMS1	144	0			c.T199C						.						132.0	137.0	136.0					6																	72678720		1936	4138	6074	SO:0001583	missense	22999	exon2			GCTGCCTGCAAAA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.199T>C	6.37:g.72678720T>C	ENSP00000428417:p.Cys67Arg	96.0	0.0		102.0	10.0	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235682	0.58886	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.31	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.39436	0.1078	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	9	0.39692	T	0.17	.	8.1641	0.31215	0.0:0.094:0.0:0.906	.	67	Q86UR5	RIMS1_HUMAN	R	67	ENSP00000430101:C67R;ENSP00000275037:C67R;ENSP00000264839:C67R;ENSP00000429959:C67R;ENSP00000430408:C67R;ENSP00000430502:C67R;ENSP00000430932:C67R;ENSP00000428417:C67R	ENSP00000264839:C67R	C	+	1	0	RIMS1	72735441	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.427000	0.34881	1.990000	0.58119	0.533000	0.62120	TGC	.		0.448	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RPL11	6135	hgsc.bcm.edu;broad.mit.edu	37	1	24022368	24022368	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:24022368A>G	ENST00000374550.3	+	5	522	c.477A>G	c.(475-477)aaA>aaG	p.K159K	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	159					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)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GAATCAGCAAAGAGGAGGCCA	0.517																																					p.K159K		.											.	RPL11	226	0			c.A477G						.						69.0	57.0	61.0					1																	24022368		2201	4299	6500	SO:0001819	synonymous_variant	6135	exon5			CAGCAAAGAGGAG	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.477A>G	1.37:g.24022368A>G		119.0	0.0		74.0	4.0	NM_000975	P25121|P39026|Q8TDH2|Q9Y674	Silent	SNP	ENST00000374550.3	37	CCDS238.1																																																																																			.		0.517	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	
RQCD1	9125	hgsc.bcm.edu;bcgsc.ca	37	2	219447748	219447748	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:219447748T>C	ENST00000273064.6	+	3	634	c.259T>C	c.(259-261)Tct>Cct	p.S87P	RQCD1_ENST00000295701.5_Missense_Mutation_p.S87P|RQCD1_ENST00000509807.2_Missense_Mutation_p.S87P|RQCD1_ENST00000542068.1_Missense_Mutation_p.S87P	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	87					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACACCAGTCTAACAGAGT	0.388																																					p.S87P		.											.	RQCD1	92	0			c.T259C						.						149.0	132.0	138.0					2																	219447748		2203	4300	6503	SO:0001583	missense	9125	exon3			CACCAGTCTAACA	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.259T>C	2.37:g.219447748T>C	ENSP00000273064:p.Ser87Pro	130.0	0.0		95.0	4.0	NM_001271634	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105907	0.94292	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	6.08	6.08	0.98989	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.993	D	0.84395	0.0557	10	0.87932	D	0	0.3815	16.6438	0.85155	0.0:0.0:0.0:1.0	.	87;87;87	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	P	87	ENSP00000273064:S87P;ENSP00000441357:S87P;ENSP00000443687:S87P;ENSP00000295701:S87P	ENSP00000273064:S87P	S	+	1	0	RQCD1	219155992	1.000000	0.71417	0.929000	0.37066	0.986000	0.74619	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	TCT	.		0.388	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444	
S1PR3	1903	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	91617111	91617111	+	Silent	SNP	C	C	T	rs138808274		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:91617111C>T	ENST00000375846.3	+	1	5691	c.996C>T	c.(994-996)ctC>ctT	p.L332L	S1PR3_ENST00000358157.2_Silent_p.L332L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	332					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGCCTGCGCTCGACCCAAGCA	0.632																																					p.L332L		.											.	S1PR3	949	0			c.C996T						.	C		1,4405	2.1+/-5.4	0,1,2202	52.0	58.0	56.0		996	-10.3	0.0	9	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	S1PR3	NM_005226.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		332/379	91617111	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1903	exon2			TGCGCTCGACCCA	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.996C>T	9.37:g.91617111C>T		40.0	1.0		27.0	8.0	NM_005226	Q5SQD8|Q7Z5I2	Silent	SNP	ENST00000375846.3	37	CCDS6680.1																																																																																			C|1.000;T|0.000		0.632	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	
SACS	26278	hgsc.bcm.edu;bcgsc.ca	37	13	23906630	23906630	+	Silent	SNP	A	A	G	rs148605896		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr13:23906630A>G	ENST00000382292.3	-	9	11658	c.11385T>C	c.(11383-11385)gcT>gcC	p.A3795A	SACS_ENST00000402364.1_Silent_p.A3045A|SACS_ENST00000382298.3_Silent_p.A3795A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3795					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCATCACAAAAGCAACCCCTC	0.368																																					p.A3795A		.											.	SACS	298	0			c.T11385C						.						88.0	85.0	86.0					13																	23906630		2203	4299	6502	SO:0001819	synonymous_variant	26278	exon10			CACAAAAGCAACC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11385T>C	13.37:g.23906630A>G		120.0	0.0		110.0	5.0	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																			A|0.999;C|0.001		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	hgsc.bcm.edu;bcgsc.ca	37	13	23911630	23911630	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr13:23911630C>T	ENST00000382292.3	-	9	6658	c.6385G>A	c.(6385-6387)Ggg>Agg	p.G2129R	SACS_ENST00000402364.1_Missense_Mutation_p.G1379R|SACS_ENST00000382298.3_Missense_Mutation_p.G2129R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2129					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAATCTCCCATCTTTAATA	0.378																																					p.G2129R		.											.	SACS	298	0			c.G6385A						.						52.0	56.0	55.0					13																	23911630		2203	4297	6500	SO:0001583	missense	26278	exon10			ATCTCCCATCTTT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6385G>A	13.37:g.23911630C>T	ENSP00000371729:p.Gly2129Arg	131.0	0.0		94.0	4.0	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737234	0.49045	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.24;-2.38;-2.24	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.54323	1.7	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.93466	0.6815	10	0.72032	D	0.01	.	20.1306	0.97998	0.0:1.0:0.0:0.0	.	2129	Q9NZJ4	SACS_HUMAN	R	2129;1379;2129	ENSP00000371729:G2129R;ENSP00000385844:G1379R;ENSP00000371735:G2129R	ENSP00000371729:G2129R	G	-	1	0	SACS	22809630	1.000000	0.71417	0.994000	0.49952	0.059000	0.15707	7.487000	0.81328	2.751000	0.94390	0.655000	0.94253	GGG	.		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SAFB	6294	hgsc.bcm.edu;bcgsc.ca	37	19	5654111	5654111	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:5654111A>G	ENST00000292123.5	+	12	1673	c.1566A>G	c.(1564-1566)aaA>aaG	p.K522K	SAFB_ENST00000454510.1_Silent_p.K453K|SAFB_ENST00000538656.1_Silent_p.K365K|SAFB_ENST00000433404.1_Silent_p.K352K|SAFB_ENST00000592224.1_Silent_p.K522K|SAFB_ENST00000588852.1_Silent_p.K522K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	522					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GTGACAGAAAAGATGATGCTA	0.468																																					p.K522K	Colon(88;338 1345 6184 8214 20897)	.											.	SAFB	228	0			c.A1566G						.						107.0	101.0	103.0					19																	5654111		2203	4300	6503	SO:0001819	synonymous_variant	6294	exon12			CAGAAAAGATGAT	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1566A>G	19.37:g.5654111A>G		91.0	0.0		66.0	4.0	NM_002967	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	ENST00000292123.5	37	CCDS12142.1																																																																																			.		0.468	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		
SCGB1A1	7356	hgsc.bcm.edu;bcgsc.ca	37	11	62189867	62189867	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:62189867T>C	ENST00000278282.2	+	2	291	c.230T>C	c.(229-231)aTc>aCc	p.I77T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_Missense_Mutation_p.I42T	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	77					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						AGAGAAAGCATCATTAAGCTC	0.537																																					p.I77T		.											.	SCGB1A1	90	0			c.T230C						.						118.0	105.0	110.0					11																	62189867		2202	4299	6501	SO:0001583	missense	7356	exon2			AAAGCATCATTAA		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.230T>C	11.37:g.62189867T>C	ENSP00000278282:p.Ile77Thr	97.0	0.0		71.0	4.0	NM_003357	B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229648	0.39399	.	.	ENSG00000149021	ENST00000534397;ENST00000278282	T;T	0.18810	2.19;2.19	4.74	3.61	0.41365	.	1.410380	0.04639	N	0.404942	T	0.34919	0.0914	.	.	.	0.09310	N	1	P	0.48089	0.905	P	0.52823	0.71	T	0.11251	-1.0595	9	0.87932	D	0	-1.5553	7.1299	0.25496	0.0:0.1038:0.0:0.8962	.	77	P11684	UTER_HUMAN	T	42;77	ENSP00000432866:I42T;ENSP00000278282:I77T	ENSP00000278282:I77T	I	+	2	0	SCGB1A1	61946443	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.224000	0.32539	0.786000	0.33708	0.533000	0.62120	ATC	.		0.537	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357	
SEMA5A	9037	hgsc.bcm.edu;bcgsc.ca	37	5	9122917	9122917	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:9122917A>G	ENST00000382496.5	-	14	2297	c.1632T>C	c.(1630-1632)ggT>ggC	p.G544G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	544	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAGACCACACACCAAAGTGCC	0.557																																					p.G544G		.											.	SEMA5A	91	0			c.T1632C						.						63.0	63.0	63.0					5																	9122917		2203	4300	6503	SO:0001819	synonymous_variant	9037	exon14			CCACACACCAAAG	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1632T>C	5.37:g.9122917A>G		158.0	0.0		135.0	6.0	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			.		0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
SEPSECS	51091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	25156728	25156728	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:25156728A>G	ENST00000382103.2	-	5	665	c.593T>C	c.(592-594)cTg>cCg	p.L198P	SEPSECS_ENST00000302922.3_Missense_Mutation_p.L119P	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	198					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				GTCTGTACGCAGCTCGTCACC	0.428																																					p.L198P		.											.	SEPSECS	90	0			c.T593C						.						136.0	117.0	123.0					4																	25156728		2203	4300	6503	SO:0001583	missense	51091	exon5			GTACGCAGCTCGT	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.593T>C	4.37:g.25156728A>G	ENSP00000371535:p.Leu198Pro	109.0	0.0		101.0	11.0	NM_016955	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333384	0.81801	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.84370	-1.84;-1.84	5.37	5.37	0.77165	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	M	0.88842	2.985	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	0.94587	0.7784	10	0.87932	D	0	-5.2746	15.7032	0.77558	1.0:0.0:0.0:0.0	.	197;138;198	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	P	119;198	ENSP00000305956:L119P;ENSP00000371535:L198P	ENSP00000305956:L119P	L	-	2	0	SEPSECS	24765826	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.855000	0.92236	2.178000	0.69098	0.473000	0.43528	CTG	.		0.428	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
SEPT2	4735	hgsc.bcm.edu;bcgsc.ca	37	2	242287583	242287583	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:242287583A>G	ENST00000391973.2	+	11	1489	c.961A>G	c.(961-963)Atc>Gtc	p.I321V	SEPT2_ENST00000407971.1_Missense_Mutation_p.I281V|SEPT2_ENST00000402092.2_Missense_Mutation_p.I321V|SEPT2_ENST00000360051.3_Missense_Mutation_p.I321V|SEPT2_ENST00000391971.2_Missense_Mutation_p.I321V|SEPT2_ENST00000401990.1_Missense_Mutation_p.I331V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	321					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TAAAGACCAGATCTTGCTGGA	0.383																																					p.I321V		.											.	SEPT2	68	0			c.A961G						.						170.0	172.0	171.0					2																	242287583		2203	4300	6503	SO:0001583	missense	4735	exon12			GACCAGATCTTGC	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.961A>G	2.37:g.242287583A>G	ENSP00000375834:p.Ile321Val	160.0	0.0		100.0	4.0	NM_001008491	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.433859	0.62955	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.73;0.73;0.72;0.94	6.07	6.07	0.98685	.	0.099286	0.64402	D	0.000003	T	0.47801	0.1465	M	0.71036	2.16	0.80722	D	1	B;B;B	0.27192	0.171;0.103;0.124	B;B;B	0.31869	0.137;0.023;0.075	T	0.48305	-0.9047	10	0.02654	T	1	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	356;281;321	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	V	321;321;321;331;281;321;356;148	ENSP00000375834:I321V;ENSP00000353157:I321V;ENSP00000375832:I321V;ENSP00000385109:I331V;ENSP00000384525:I281V;ENSP00000385172:I321V;ENSP00000408296:I148V	ENSP00000353157:I321V	I	+	1	0	SEPT2	241936256	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.414000	0.90238	2.326000	0.78906	0.533000	0.62120	ATC	.		0.383	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155	
SERPING1	710	hgsc.bcm.edu;bcgsc.ca	37	11	57374013	57374013	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:57374013A>G	ENST00000278407.4	+	6	1249	c.1022A>G	c.(1021-1023)aAa>aGa	p.K341R	SERPING1_ENST00000378323.4_Missense_Mutation_p.K346R|SERPING1_ENST00000378324.2_Missense_Mutation_p.K289R|SERPING1_ENST00000403558.1_Missense_Mutation_p.K384R|SERPING1_ENST00000340687.6_Missense_Mutation_p.K341R	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	341					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CAAACTTTGAAAGCCAAGGTA	0.408																																					p.K341R		.											.	SERPING1	650	0			c.A1022G						.						173.0	164.0	167.0					11																	57374013		2201	4296	6497	SO:0001583	missense	710	exon5			CTTTGAAAGCCAA	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1022A>G	11.37:g.57374013A>G	ENSP00000278407:p.Lys341Arg	82.0	0.0		65.0	4.0	NM_001032295	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.639032	0.47153	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.49	4.37	0.52481	Serpin domain (3);	0.056073	0.64402	D	0.000001	D	0.85754	0.5770	M	0.64404	1.975	0.39768	D	0.972124	B;B;B;B	0.27140	0.153;0.169;0.153;0.153	B;B;B;B	0.26770	0.073;0.067;0.073;0.073	T	0.82184	-0.0583	10	0.45353	T	0.12	.	8.9441	0.35747	0.9144:0.0:0.0856:0.0	.	346;384;341;341	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	R	341;341;346;289;384	ENSP00000278407:K341R;ENSP00000341861:K341R;ENSP00000367574:K346R;ENSP00000367575:K289R;ENSP00000384420:K384R	ENSP00000278407:K341R	K	+	2	0	SERPING1	57130589	1.000000	0.71417	0.888000	0.34837	0.983000	0.72400	3.594000	0.54008	0.935000	0.37341	0.533000	0.62120	AAA	.		0.408	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
SERTAD2	9792	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	64863856	64863856	+	Silent	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:64863856G>A	ENST00000313349.3	-	2	447	c.150C>T	c.(148-150)aaC>aaT	p.N50N	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	50	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGGGCCTGTGGTTATAGAGTT	0.493																																					p.N50N		.											.	SERTAD2	90	0			c.C150T						.						136.0	141.0	139.0					2																	64863856		2203	4300	6503	SO:0001819	synonymous_variant	9792	exon2			CCTGTGGTTATAG	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.150C>T	2.37:g.64863856G>A		237.0	0.0		220.0	21.0	NM_014755	Q53TS2	Silent	SNP	ENST00000313349.3	37	CCDS33210.1																																																																																			.		0.493	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755	
SEZ6L	23544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	26771552	26771552	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr22:26771552G>T	ENST00000248933.6	+	15	2934	c.2839G>T	c.(2839-2841)Gca>Tca	p.A947S	SEZ6L_ENST00000360929.3_Missense_Mutation_p.A872S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A643S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A719S|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A936S|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A871S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A946S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	947					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGCAGAAGCGGCAGCAGAGAC	0.567																																					p.A947S		.											.	SEZ6L	95	0			c.G2839T						.						87.0	72.0	77.0					22																	26771552		2203	4300	6503	SO:0001583	missense	23544	exon15			GAAGCGGCAGCAG	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2839G>T	22.37:g.26771552G>T	ENSP00000248933:p.Ala947Ser	114.0	0.0		64.0	26.0	NM_021115	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248544	0.39797	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.29655	1.9;2.0;2.12;1.87;1.69;1.56;1.88	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000031	T	0.43809	0.1264	L	0.34521	1.04	0.80722	D	1	D;D;B;D;P;D;D	0.89917	1.0;0.989;0.0;0.995;0.628;0.989;0.989	D;P;B;P;B;P;P	0.80764	0.994;0.804;0.0;0.814;0.415;0.804;0.804	T	0.11108	-1.0601	10	0.16420	T	0.52	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	934;936;643;871;872;946;947	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	946;936;872;947;871;643;719	ENSP00000384772:A946S;ENSP00000437037:A936S;ENSP00000354185:A872S;ENSP00000248933:A947S;ENSP00000342661:A871S;ENSP00000384838:A643S;ENSP00000384733:A719S	ENSP00000248933:A947S	A	+	1	0	SEZ6L	25101552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.214000	0.65236	2.502000	0.84385	0.555000	0.69702	GCA	.		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
SFMBT2	57713	hgsc.bcm.edu;bcgsc.ca	37	10	7247842	7247842	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:7247842T>C	ENST00000361972.4	-	12	1469	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D460G	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	460					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGGAAGATGTCCATGGATTC	0.483																																					p.D460G		.											.	SFMBT2	141	0			c.A1379G						.						120.0	106.0	111.0					10																	7247842		2203	4300	6503	SO:0001583	missense	57713	exon12			AAGATGTCCATGG	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1379A>G	10.37:g.7247842T>C	ENSP00000355109:p.Asp460Gly	144.0	0.0		95.0	5.0	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814606	0.90790	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.50277	0.75;0.75	5.57	5.57	0.84162	.	0.042810	0.85682	D	0.000000	T	0.69205	0.3085	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.73401	-0.3994	10	0.87932	D	0	.	15.742	0.77905	0.0:0.0:0.0:1.0	.	460	Q5VUG0	SMBT2_HUMAN	G	460	ENSP00000355109:D460G;ENSP00000380353:D460G	ENSP00000355109:D460G	D	-	2	0	SFMBT2	7287848	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.911000	0.87458	2.126000	0.65437	0.533000	0.62120	GAC	.		0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
SH3BP5L	80851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	249106273	249106273	+	Silent	SNP	C	C	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:249106273C>G	ENST00000366472.5	-	7	2237	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	SH3BP5L_ENST00000411742.2_Silent_p.L304L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	336										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TGCGCAGGCTCAGCAGACTCA	0.692																																					p.L336L		.											.	SH3BP5L	90	0			c.G1008C						.						21.0	27.0	25.0					1																	249106273		2198	4296	6494	SO:0001819	synonymous_variant	80851	exon7			CAGGCTCAGCAGA	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.1008G>C	1.37:g.249106273C>G		63.0	0.0		83.0	12.0	NM_030645	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	CCDS31126.1																																																																																			.		0.692	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	
SHF	90525	hgsc.bcm.edu;bcgsc.ca	37	15	45467612	45467612	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr15:45467612A>G	ENST00000560734.1	-	3	652	c.652T>C	c.(652-654)Tcc>Ccc	p.S218P	SHF_ENST00000290894.8_Missense_Mutation_p.S153P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Missense_Mutation_p.S218P|SHF_ENST00000560471.1_Missense_Mutation_p.S218P|SHF_ENST00000458022.2_Missense_Mutation_p.S16P|SHF_ENST00000318390.6_Missense_Mutation_p.S210P|SHF_ENST00000561091.1_5'UTR					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GTCTCCTTGGAGCCCCGGATC	0.637																																					p.S153P		.											.	SHF	69	0			c.T457C						.						35.0	28.0	31.0					15																	45467612		2195	4296	6491	SO:0001583	missense	90525	exon4			CCTTGGAGCCCCG	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.652T>C	15.37:g.45467612A>G	ENSP00000453168:p.Ser218Pro	75.0	0.0		75.0	4.0	NM_138356		Missense_Mutation	SNP	ENST00000560734.1	37		.	.	.	.	.	.	.	.	.	.	A	10.94	1.492540	0.26774	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.30448	1.53;1.53;1.53	5.25	5.25	0.73442	.	0.201227	0.44483	D	0.000455	T	0.47303	0.1438	L	0.58510	1.815	0.34878	D	0.744315	D;D;B;B;B	0.71674	0.983;0.998;0.023;0.039;0.023	P;P;B;B;B	0.62649	0.791;0.905;0.007;0.028;0.017	T	0.58885	-0.7557	10	0.36615	T	0.2	-10.114	13.1129	0.59283	1.0:0.0:0.0:0.0	.	16;153;143;210;153	Q8N9I8;E7EV73;E7EWB7;F8W6K9;Q7M4L6	.;.;.;.;SHF_HUMAN	P	153;153;210;16;143	ENSP00000290894:S153P;ENSP00000315978:S210P;ENSP00000411530:S16P	ENSP00000290894:S153P	S	-	1	0	SHF	43254904	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.330000	0.52068	1.981000	0.57761	0.402000	0.26972	TCC	.		0.637	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356	
SIK1	150094	hgsc.bcm.edu;bcgsc.ca	37	21	44838374	44838374	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr21:44838374T>C	ENST00000270162.6	-	12	1642	c.1510A>G	c.(1510-1512)Agc>Ggc	p.S504G		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	504					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CTGTCAGAGCTGGTTCCCTCT	0.642																																					p.S504G		.											.	SIK1	346	0			c.A1510G						.						37.0	39.0	38.0					21																	44838374		2202	4300	6502	SO:0001583	missense	150094	exon12			CAGAGCTGGTTCC	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1510A>G	21.37:g.44838374T>C	ENSP00000270162:p.Ser504Gly	85.0	0.0		69.0	5.0	NM_173354	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.803053	0.31869	.	.	ENSG00000142178	ENST00000270162	T	0.73681	-0.77	4.79	4.79	0.61399	.	0.110591	0.64402	D	0.000005	T	0.71634	0.3363	M	0.72118	2.19	0.43313	D	0.995329	B	0.21071	0.051	B	0.14023	0.01	T	0.67929	-0.5543	10	0.22706	T	0.39	.	14.3387	0.66608	0.0:0.0:0.0:1.0	.	504	P57059	SIK1_HUMAN	G	504	ENSP00000270162:S504G	ENSP00000270162:S504G	S	-	1	0	SIK1	43662802	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	5.626000	0.67777	1.790000	0.52503	0.533000	0.62120	AGC	.		0.642	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	
SIN3B	23309	hgsc.bcm.edu;bcgsc.ca	37	19	16952755	16952755	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:16952755C>A	ENST00000248054.5	+	4	579	c.558C>A	c.(556-558)ttC>ttA	p.F186L	CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000379803.1_Missense_Mutation_p.F186L|SIN3B_ENST00000596802.1_Missense_Mutation_p.F186L					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACAGGTCATTCCTGGAGATCC	0.463																																					p.F186L		.											.	SIN3B	228	0			c.C558A						.						72.0	68.0	69.0					19																	16952755		2203	4300	6503	SO:0001583	missense	23309	exon4			GTCATTCCTGGAG	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.558C>A	19.37:g.16952755C>A	ENSP00000248054:p.Phe186Leu	168.0	0.0		143.0	6.0	NM_015260		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	C	19.73	3.882872	0.72410	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.81247	-1.47;-1.29	5.22	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	H	0.95712	3.71	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.98;0.999	D	0.91355	0.5107	10	0.51188	T	0.08	-2.1933	8.8518	0.35203	0.0:0.8382:0.0:0.1618	.	186;186;186	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	L	186	ENSP00000369131:F186L;ENSP00000248054:F186L	ENSP00000248054:F186L	F	+	3	2	SIN3B	16813755	0.994000	0.37717	0.999000	0.59377	0.880000	0.50808	0.677000	0.25262	2.427000	0.82271	0.557000	0.71058	TTC	.		0.463	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
SIPA1L2	57568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	232650005	232650005	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:232650005C>A	ENST00000366630.1	-	2	1439	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A361S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	361					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGCAGATGCCCCAGTGGTT	0.488																																					p.A361S		.											.	SIPA1L2	95	0			c.G1081T						.						101.0	103.0	103.0					1																	232650005		1952	4136	6088	SO:0001583	missense	57568	exon1			CAGATGCCCCAGT	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1081G>T	1.37:g.232650005C>A	ENSP00000355589:p.Ala361Ser	61.0	0.0		70.0	48.0	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694733	0.88830	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.91577	-2.87;-2.87	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95411	0.8498	10	0.72032	D	0.01	-26.4199	19.3561	0.94414	0.0:1.0:0.0:0.0	.	361	Q9P2F8	SI1L2_HUMAN	S	361	ENSP00000355589:A361S;ENSP00000262861:A361S	ENSP00000262861:A361S	A	-	1	0	SIPA1L2	230716628	1.000000	0.71417	0.938000	0.37757	0.992000	0.81027	7.651000	0.83577	2.810000	0.96702	0.650000	0.86243	GCA	.		0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SLC12A5	57468	hgsc.bcm.edu;bcgsc.ca	37	20	44685068	44685068	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr20:44685068A>G	ENST00000454036.2	+	23	3093	c.3044A>G	c.(3043-3045)gAg>gGg	p.E1015G	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E992G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1015					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGGGGAGGAGCCTGAGGGG	0.607																																					p.E1015G		.											.	SLC12A5	156	0			c.A3044G						.						39.0	37.0	38.0					20																	44685068		2203	4300	6503	SO:0001583	missense	57468	exon23			GGGAGGAGCCTGA	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3044A>G	20.37:g.44685068A>G	ENSP00000387694:p.Glu1015Gly	80.0	0.0		87.0	4.0	NM_001134771	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	7.247	0.602362	0.13939	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.42131	0.98;0.98	5.14	5.14	0.70334	.	0.375027	0.27105	N	0.020908	T	0.24586	0.0596	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.06935	-1.0799	10	0.24483	T	0.36	.	14.2969	0.66318	1.0:0.0:0.0:0.0	.	1015;992	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	G	1015;992	ENSP00000387694:E1015G;ENSP00000243964:E992G	ENSP00000243964:E992G	E	+	2	0	SLC12A5	44118475	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	4.682000	0.61671	2.155000	0.67459	0.459000	0.35465	GAG	.		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
SLC1A6	6511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15067448	15067448	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:15067448C>T	ENST00000221742.3	-	6	1016	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G273S|SLC1A6_ENST00000600144.1_Intron	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	337					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCCAGCTGACCCCCCAGGACG	0.582																																					p.G337S		.											.	SLC1A6	186	0			c.G1009A						.						143.0	124.0	130.0					19																	15067448		2203	4300	6503	SO:0001583	missense	6511	exon6			GCTGACCCCCCAG		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1009G>A	19.37:g.15067448C>T	ENSP00000221742:p.Gly337Ser	109.0	0.0		84.0	8.0	NM_005071	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.499178	0.44455	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58940	0.36;0.3	3.97	3.97	0.46021	.	0.152513	0.64402	D	0.000018	T	0.52757	0.1754	L	0.27053	0.805	0.80722	D	1	B;B	0.24823	0.112;0.001	B;B	0.42062	0.374;0.009	T	0.49331	-0.8951	10	0.23891	T	0.37	-6.5217	13.9019	0.63809	0.0:1.0:0.0:0.0	.	273;337	E7EV13;P48664	.;EAA4_HUMAN	S	273;337	ENSP00000409386:G273S;ENSP00000221742:G337S	ENSP00000221742:G337S	G	-	1	0	SLC1A6	14928448	0.974000	0.33945	1.000000	0.80357	0.933000	0.57130	2.444000	0.44890	2.229000	0.72834	0.596000	0.82720	GGT	.		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
SLC30A6	55676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	32399138	32399138	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:32399138A>G	ENST00000282587.5	+	3	134	c.97A>G	c.(97-99)Aag>Gag	p.K33E	SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.K33E|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Missense_Mutation_p.K4E|SLC30A6_ENST00000435660.1_Missense_Mutation_p.K33E	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	33					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAGTCCTGGAAGATACTGCT	0.348																																					p.K33E		.											.	SLC30A6	90	0			c.A97G						.						198.0	187.0	191.0					2																	32399138		2203	4300	6503	SO:0001583	missense	55676	exon3			TCCTGGAAGATAC	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.97A>G	2.37:g.32399138A>G	ENSP00000282587:p.Lys33Glu	367.0	0.0		271.0	103.0	NM_001193513	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210719	0.58343	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.09	5.09	0.68999	.	0.105147	0.64402	D	0.000005	T	0.49915	0.1585	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.24882	0.007;0.113;0.036;0.017	B;B;B;B	0.22601	0.011;0.04;0.037;0.011	T	0.49570	-0.8926	10	0.49607	T	0.09	-4.316	13.8575	0.63537	1.0:0.0:0.0:0.0	.	4;33;33;33	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	E	33;4;33;33;4	ENSP00000393946:K4E;ENSP00000282587:K33E;ENSP00000399005:K33E;ENSP00000440678:K4E	ENSP00000282587:K33E	K	+	1	0	SLC30A6	32252642	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.237000	0.78164	1.909000	0.55274	0.460000	0.39030	AAG	.		0.348	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		
SLC38A10	124565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	79234066	79234066	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:79234066C>T	ENST00000374759.3	-	11	1643	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L	SLC38A10_ENST00000546352.1_5'Flank|SLC38A10_ENST00000288439.5_Silent_p.L420L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	420					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCACCTTCATCAAACCCTCGG	0.647																																					p.L420L		.											.	SLC38A10	70	0			c.G1260A						.						24.0	25.0	25.0					17																	79234066		2199	4291	6490	SO:0001819	synonymous_variant	124565	exon11			CTTCATCAAACCC	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1260G>A	17.37:g.79234066C>T		63.0	0.0		50.0	17.0	NM_001037984	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																			.		0.647	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
SLK	9748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	105750545	105750545	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:105750545A>G	ENST00000369755.3	+	2	808	c.263A>G	c.(262-264)cAc>cGc	p.H88R	SLK_ENST00000335753.4_Missense_Mutation_p.H88R	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTGTGATCACCCAAATATA	0.353																																					p.H88R	NSCLC(111;540 1651 1927 4474 17706)	.											.	SLK	549	0			c.A263G						.						128.0	119.0	122.0					10																	105750545		2203	4300	6503	SO:0001583	missense	9748	exon2			GTGATCACCCAAA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.263A>G	10.37:g.105750545A>G	ENSP00000358770:p.His88Arg	114.0	0.0		127.0	37.0	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816069	0.90790	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.78481	-1.18;-1.18	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96145	0.9103	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	88;88	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	R	88	ENSP00000336824:H88R;ENSP00000358770:H88R	ENSP00000336824:H88R	H	+	2	0	SLK	105740535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	2.371000	0.80710	0.533000	0.62120	CAC	.		0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SMARCD2	6603	hgsc.bcm.edu;bcgsc.ca	37	17	61914400	61914400	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:61914400C>T	ENST00000448276.2	-	4	714	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	SMARCD2_ENST00000323347.10_Missense_Mutation_p.R102Q|RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R75Q	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	150					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						AACAAGCTCCCGGATCTGAAG	0.557																																					p.R150Q		.											.	SMARCD2	227	0			c.G449A						.						55.0	56.0	56.0					17																	61914400		2001	4194	6195	SO:0001583	missense	6603	exon4			AGCTCCCGGATCT	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.449G>A	17.37:g.61914400C>T	ENSP00000392617:p.Arg150Gln	77.0	0.0		71.0	4.0	NM_001098426	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.290308	0.80914	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T;T	0.57595	0.39;0.81;0.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.76938	2.355	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;D;D	0.79108	0.863;0.992;0.992	T	0.75622	-0.3254	10	0.72032	D	0.01	-1.2528	16.9239	0.86170	0.0:1.0:0.0:0.0	.	102;113;150	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	Q	150;92;113;102	ENSP00000392617:R150Q;ENSP00000225742:R92Q;ENSP00000318451:R102Q	ENSP00000225742:R92Q	R	-	2	0	SMARCD2	59268132	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.651000	0.83577	2.865000	0.98341	0.655000	0.94253	CGG	.		0.557	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426	
SMC6	79677	hgsc.bcm.edu;bcgsc.ca	37	2	17922879	17922879	+	Splice_Site	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:17922879T>C	ENST00000448223.2	-	4	507	c.238A>G	c.(238-240)Agt>Ggt	p.S80G	SMC6_ENST00000351948.4_Splice_Site_p.S80G|SMC6_ENST00000402989.1_Splice_Site_p.S80G|SMC6_ENST00000381272.4_Splice_Site_p.S80G	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	80					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)					AAACACTTACTTCCATTGTTG	0.323																																					p.S80G		.											.	SMC6	292	0			c.A238G						.						127.0	127.0	127.0					2																	17922879		2203	4300	6503	SO:0001630	splice_region_variant	79677	exon4			ACTTACTTCCATT	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.238+1A>G	2.37:g.17922879T>C		79.0	0.0		60.0	4.0	NM_001142286	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	33	5.246391	0.95305	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.79845	-1.31;-1.31;1.99;-1.31;1.99	5.89	5.89	0.94794	RecF/RecN/SMC (1);	0.114600	0.85682	D	0.000000	D	0.88858	0.6551	M	0.75615	2.305	0.80722	D	1	P;D;P	0.58268	0.939;0.982;0.883	P;D;P	0.70227	0.783;0.968;0.835	D	0.88900	0.3352	9	.	.	.	.	15.2952	0.73898	0.0:0.0:0.0:1.0	.	80;80;80	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	G	80	ENSP00000404092:S80G;ENSP00000323439:S80G;ENSP00000370672:S80G;ENSP00000384539:S80G;ENSP00000408644:S80G	.	S	-	1	0	SMC6	17786360	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.622000	0.83099	2.246000	0.74042	0.533000	0.62120	AGT	.		0.323	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	Missense_Mutation
SNAP91	9892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	84311120	84311120	+	Silent	SNP	T	T	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:84311120T>A	ENST00000439399.2	-	16	1510	c.1194A>T	c.(1192-1194)gcA>gcT	p.A398A	SNAP91_ENST00000428679.2_Silent_p.A398A|SNAP91_ENST00000369694.2_Silent_p.A398A|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Silent_p.A398A|SNAP91_ENST00000521743.1_Silent_p.A398A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000195649.6_Silent_p.A398A|SNAP91_ENST00000520302.1_Silent_p.A396A	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	398	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTGAAATCTGTGCTTCAGAGG	0.448																																					p.A398A		.											.	SNAP91	23	0			c.A1194T						.						91.0	91.0	91.0					6																	84311120		1941	4131	6072	SO:0001819	synonymous_variant	9892	exon15			AATCTGTGCTTCA	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1194A>T	6.37:g.84311120T>A		260.0	0.0		177.0	109.0	NM_001242792	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.526100	0.27299	.	.	ENSG00000065609	ENST00000369691	.	.	.	5.58	1.72	0.24424	.	.	.	.	.	T	0.28433	0.0703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15065	-1.0450	4	.	.	.	-11.017	2.8386	0.05522	0.2468:0.0671:0.1286:0.5575	.	.	.	.	S	58	.	.	T	-	1	0	SNAP91	84367839	0.998000	0.40836	0.999000	0.59377	0.989000	0.77384	0.368000	0.20399	0.054000	0.16065	0.460000	0.39030	ACA	.		0.448	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
SP3	6670	hgsc.bcm.edu;bcgsc.ca	37	2	174820457	174820457	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:174820457T>C	ENST00000310015.6	-	4	1313	c.783A>G	c.(781-783)ccA>ccG	p.P261P	SP3_ENST00000455789.2_Silent_p.P208P|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Silent_p.P193P	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	261					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TAATATTTCCTGGCAGACCAA	0.468																																					p.P261P		.											.	SP3	227	0			c.A783G						.						90.0	88.0	89.0					2																	174820457		2203	4300	6503	SO:0001819	synonymous_variant	6670	exon4			ATTTCCTGGCAGA	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.783A>G	2.37:g.174820457T>C		90.0	0.0		71.0	4.0	NM_003111	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	T	4.001	-0.002544	0.07819	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.95	4.8	0.61643	.	.	.	.	.	T	0.57770	0.2076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55192	-0.8179	4	.	.	.	.	7.0973	0.25317	0.1308:0.0688:0.0:0.8004	.	.	.	.	R	218	.	.	Q	-	2	0	SP3	174528703	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.068000	0.41471	1.079000	0.41038	-0.371000	0.07208	CAG	.		0.468	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
SPTLC3	55304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	13071736	13071736	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr20:13071736T>A	ENST00000399002.2	+	5	887	c.613T>A	c.(613-615)Ttg>Atg	p.L205M	SPTLC3_ENST00000378194.4_Missense_Mutation_p.L205M	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	205					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TGCAGGCACCTTGGATAAGCA	0.428																																					p.L205M		.											.	SPTLC3	90	0			c.T613A						.						170.0	169.0	169.0					20																	13071736		1900	4126	6026	SO:0001583	missense	55304	exon5			GGCACCTTGGATA	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.613T>A	20.37:g.13071736T>A	ENSP00000381968:p.Leu205Met	201.0	0.0		157.0	53.0	NM_018327	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	T	9.789	1.177390	0.21787	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.90676	-2.71;-2.71	5.44	-1.46	0.08800	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.363501	0.25823	N	0.028065	T	0.80248	0.4588	L	0.33485	1.01	0.37988	D	0.933822	B	0.17667	0.023	B	0.28553	0.091	T	0.62300	-0.6883	10	0.27082	T	0.32	-6.3789	1.2822	0.02043	0.2561:0.3455:0.1195:0.2789	.	205	Q9NUV7	SPTC3_HUMAN	M	205	ENSP00000381968:L205M;ENSP00000367436:L205M	ENSP00000367436:L205M	L	+	1	2	SPTLC3	13019736	0.969000	0.33509	0.991000	0.47740	0.418000	0.31294	0.472000	0.22116	0.073000	0.16731	0.524000	0.50904	TTG	.		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
SQRDL	58472	hgsc.bcm.edu;bcgsc.ca	37	15	45965905	45965905	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr15:45965905A>G	ENST00000260324.7	+	5	946	c.560A>G	c.(559-561)gAg>gGg	p.E187G	SQRDL_ENST00000568606.1_Missense_Mutation_p.E187G|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.E187G	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	187					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GACTTCAAAGAGGGCAATGCC	0.453																																					p.E187G		.											.	SQRDL	91	0			c.A560G						.						140.0	128.0	132.0					15																	45965905		2198	4297	6495	SO:0001583	missense	58472	exon5			TCAAAGAGGGCAA	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.560A>G	15.37:g.45965905A>G	ENSP00000260324:p.Glu187Gly	130.0	0.0		109.0	5.0	NM_021199	Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	A	6.130	0.392133	0.11581	.	.	ENSG00000137767	ENST00000260324	T	0.45276	0.9	5.62	5.62	0.85841	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.094126	0.64402	D	0.000001	T	0.16385	0.0394	N	0.01576	-0.805	0.51012	D	0.999908	B	0.02656	0.0	B	0.11329	0.006	T	0.20672	-1.0268	10	0.02654	T	1	-10.0801	14.6676	0.68921	1.0:0.0:0.0:0.0	.	187	Q9Y6N5	SQRD_HUMAN	G	187	ENSP00000260324:E187G	ENSP00000260324:E187G	E	+	2	0	SQRDL	43753197	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.338000	0.79269	2.146000	0.66826	0.460000	0.39030	GAG	.		0.453	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2		
ST8SIA4	7903	hgsc.bcm.edu;bcgsc.ca	37	5	100222086	100222086	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:100222086T>C	ENST00000231461.5	-	3	774	c.464A>G	c.(463-465)gAa>gGa	p.E155G	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.E155G|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	155					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTTTCCACATTCACTGTCTAA	0.388																																					p.E155G		.											.	ST8SIA4	153	0			c.A464G						.						83.0	83.0	83.0					5																	100222086		2203	4300	6503	SO:0001583	missense	7903	exon3			CCACATTCACTGT	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.464A>G	5.37:g.100222086T>C	ENSP00000231461:p.Glu155Gly	201.0	0.0		169.0	7.0	NM_175052	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	T	5.756	0.323932	0.10900	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.28454	1.61;1.61	5.92	-1.81	0.07882	.	0.400705	0.26761	N	0.022637	T	0.05318	0.0141	N	0.00149	-1.99	0.25427	N	0.988219	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.02654	T	1	-3.5454	13.1326	0.59391	0.0:0.6687:0.0:0.3313	.	155	Q92187	SIA8D_HUMAN	G	155	ENSP00000231461:E155G;ENSP00000428914:E155G	ENSP00000231461:E155G	E	-	2	0	ST8SIA4	100249985	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	0.871000	0.28023	-0.155000	0.11098	0.455000	0.32223	GAA	.		0.388	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
STMN2	11075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	80553709	80553709	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:80553709T>C	ENST00000220876.7	+	3	594	c.212T>C	c.(211-213)tTa>tCa	p.L71S	STMN2_ENST00000518111.1_Missense_Mutation_p.L71S|STMN2_ENST00000518491.1_Missense_Mutation_p.L60S	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	71	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CCACGAACTTTAGCTTCTCCA	0.463																																					p.L71S		.											.	STMN2	515	0			c.T212C						.						70.0	67.0	68.0					8																	80553709		1889	4123	6012	SO:0001583	missense	11075	exon3			GAACTTTAGCTTC		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.212T>C	8.37:g.80553709T>C	ENSP00000220876:p.Leu71Ser	122.0	0.0		246.0	35.0	NM_007029	A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455924	0.26161	.	.	ENSG00000104435	ENST00000220876;ENST00000518111;ENST00000518491	.	.	.	5.49	5.49	0.81192	.	0.540325	0.19802	N	0.105739	T	0.54208	0.1844	L	0.27053	0.805	0.35621	D	0.809458	D;D	0.59767	0.986;0.96	P;P	0.60473	0.875;0.761	T	0.62756	-0.6787	9	0.42905	T	0.14	-3.7681	10.0198	0.42035	0.0:0.0755:0.0:0.9245	.	71;71	B7Z4K3;Q93045	.;STMN2_HUMAN	S	71;71;60	.	ENSP00000220876:L71S	L	+	2	0	STMN2	80716264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.073000	0.62155	0.383000	0.25322	TTA	.		0.463	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029	
STX7	8417	hgsc.bcm.edu;bcgsc.ca	37	6	132796761	132796761	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:132796761A>G	ENST00000367941.2	-	3	239	c.126T>C	c.(124-126)ccT>ccC	p.P42P	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Silent_p.P42P	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	42					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GTGAATCTTGAGGTGTTCCAA	0.294																																					p.P42P		.											.	STX7	90	0			c.T126C						.						74.0	70.0	72.0					6																	132796761		2201	4297	6498	SO:0001819	synonymous_variant	8417	exon3			ATCTTGAGGTGTT	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.126T>C	6.37:g.132796761A>G		63.0	0.0		62.0	4.0	NM_003569	E1P579|Q5SZW2|Q96ES9	Silent	SNP	ENST00000367941.2	37	CCDS5153.1																																																																																			.		0.294	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2		
SUPT6H	6830	hgsc.bcm.edu;bcgsc.ca	37	17	27025001	27025001	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:27025001A>G	ENST00000314616.6	+	32	4684	c.4401A>G	c.(4399-4401)gaA>gaG	p.E1467E	SUPT6H_ENST00000347486.4_Silent_p.E1467E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1467					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCTGCAAGGAACTGCCCGGCA	0.537																																					p.E1467E		.											.	SUPT6H	93	0			c.A4401G						.						75.0	73.0	73.0					17																	27025001		2203	4300	6503	SO:0001819	synonymous_variant	6830	exon32			CAAGGAACTGCCC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4401A>G	17.37:g.27025001A>G		47.0	0.0		58.0	4.0	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																			.		0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
TAF1	6872	hgsc.bcm.edu;bcgsc.ca	37	X	70601683	70601683	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:70601683A>G	ENST00000373790.4	+	9	1499	c.1448A>G	c.(1447-1449)aAt>aGt	p.N483S	TAF1_ENST00000449580.1_Missense_Mutation_p.N483S|TAF1_ENST00000423759.1_Missense_Mutation_p.N504S|TAF1_ENST00000276072.3_Missense_Mutation_p.N504S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	483					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGGAGGACAATATCATTTGG	0.458																																					p.N504S		.											.	TAF1	900	0			c.A1511G						.						144.0	115.0	125.0					X																	70601683		2203	4300	6503	SO:0001583	missense	6872	exon9			AGGACAATATCAT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1448A>G	X.37:g.70601683A>G	ENSP00000362895:p.Asn483Ser	111.0	0.0		70.0	4.0	NM_004606	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.200855	0.58234	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10860	2.83;2.91;2.88;2.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	L	0.54323	1.7	0.58432	D	0.999999	B;B	0.28584	0.138;0.216	B;B	0.33846	0.119;0.171	T	0.03728	-1.1009	10	0.30854	T	0.27	.	14.5732	0.68226	1.0:0.0:0.0:0.0	.	483;504	P21675;P21675-2	TAF1_HUMAN;.	S	483;483;504;504	ENSP00000362895:N483S;ENSP00000389000:N483S;ENSP00000406549:N504S;ENSP00000276072:N504S	ENSP00000276072:N504S	N	+	2	0	TAF1	70518408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.125000	0.77193	1.821000	0.53095	0.481000	0.45027	AAT	.		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
TBCCD1	55171	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	186272765	186272765	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:186272765C>T	ENST00000424280.1	-	5	1447	c.968G>A	c.(967-969)aGc>aAc	p.S323N	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S227N|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S323N|TBCCD1_ENST00000479590.1_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	323	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGTGTCTGAGCTCTTAGCCAG	0.468																																					p.S323N		.											.	TBCCD1	108	0			c.G968A						.						121.0	110.0	113.0					3																	186272765		2203	4300	6503	SO:0001583	missense	55171	exon5			TCTGAGCTCTTAG	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.968G>A	3.37:g.186272765C>T	ENSP00000411253:p.Ser323Asn	171.0	0.0		156.0	12.0	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514052	0.64522	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.84516	-1.84;-1.84;-1.86	5.88	5.88	0.94601	C-CAP/cofactor C-like domain (1);	0.146462	0.64402	D	0.000007	D	0.89343	0.6688	M	0.67953	2.075	0.39658	D	0.970572	D;P	0.53462	0.96;0.872	P;B	0.54706	0.759;0.342	D	0.88212	0.2891	10	0.35671	T	0.21	-15.5751	17.791	0.88552	0.0:1.0:0.0:0.0	.	227;323	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	N	323;323;227	ENSP00000411253:S323N;ENSP00000341652:S323N;ENSP00000397091:S227N	ENSP00000341652:S323N	S	-	2	0	TBCCD1	187755459	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.737000	0.62066	2.805000	0.96524	0.552000	0.68991	AGC	C|1.000;G|0.000		0.468	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
TDRKH	11022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	151751633	151751633	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:151751633T>C	ENST00000368822.1	-	5	1140	c.507A>G	c.(505-507)ctA>ctG	p.L169L	TDRKH_ENST00000368824.3_Silent_p.L169L|TDRKH_ENST00000368823.1_Silent_p.L165L|TDRKH_ENST00000368825.3_Silent_p.L124L|TDRKH_ENST00000368827.6_Silent_p.L169L|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Silent_p.L169L			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	169	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTTGATAGTAGTAATGTCC	0.413																																					p.L169L		.											.	TDRKH	92	0			c.A507G						.						187.0	175.0	178.0					1																	151751633		1878	4108	5986	SO:0001819	synonymous_variant	11022	exon5			TGATAGTAGTAAT	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.507A>G	1.37:g.151751633T>C		399.0	0.0		506.0	76.0	NM_001083965	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	CCDS41394.1																																																																																			.		0.413	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862	
TEK	7010	hgsc.bcm.edu;bcgsc.ca	37	9	27213566	27213566	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:27213566G>A	ENST00000380036.4	+	18	3404	c.2962G>A	c.(2962-2964)Ggt>Agt	p.G988S	TEK_ENST00000406359.4_Missense_Mutation_p.G945S|TEK_ENST00000519097.1_Missense_Mutation_p.G840S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	988	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ATTGTCCCGAGGTCAAGAGGT	0.428																																					p.G988S		.											.	TEK	1584	0			c.G2962A						.						124.0	122.0	123.0					9																	27213566		2203	4300	6503	SO:0001583	missense	7010	exon18			TCCCGAGGTCAAG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2962G>A	9.37:g.27213566G>A	ENSP00000369375:p.Gly988Ser	92.0	0.0		72.0	4.0	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585865	0.96578	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.81739	-1.53;-1.53;-1.53	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000072	T	0.80199	0.4579	N	0.04636	-0.2	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	1.0;0.97;1.0	D	0.83567	0.0110	10	0.41790	T	0.15	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	840;1021;988	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	S	840;988;945	ENSP00000430686:G840S;ENSP00000369375:G988S;ENSP00000383977:G945S	ENSP00000369375:G988S	G	+	1	0	TEK	27203566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	GGT	.		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
TEX101	83639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	43920080	43920080	+	Silent	SNP	C	C	T	rs149972012		TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:43920080C>T	ENST00000598265.1	+	2	175	c.9C>T	c.(7-9)acC>acT	p.T3T	TEX101_ENST00000602198.1_Silent_p.T21T|TEX101_ENST00000253435.7_Silent_p.T21T|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	3						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCATGGGAACCCCTCGTATCC	0.542																																					p.T21T		.											.	TEX101	91	0			c.C63T						.	C	,	5,4401	9.9+/-24.2	0,5,2198	194.0	185.0	188.0		9,63	-2.2	0.0	19	dbSNP_134	188	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TEX101	NM_001130011.1,NM_031451.4	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	3/250,21/268	43920080	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	83639	exon5			GGGAACCCCTCGT	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.9C>T	19.37:g.43920080C>T		192.0	0.0		158.0	70.0	NM_031451	Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	CCDS59393.1																																																																																			C|1.000;T|0.000		0.542	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451	
TLR8	51311	hgsc.bcm.edu;bcgsc.ca	37	X	12938298	12938298	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:12938298A>G	ENST00000218032.6	+	2	1226	c.1139A>G	c.(1138-1140)cAg>cGg	p.Q380R	TLR8_ENST00000311912.5_Missense_Mutation_p.Q398R	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	380					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TATGTGTTCCAGGAACTCAGA	0.358																																					p.Q380R		.											.	TLR8	629	0			c.A1139G						.						82.0	85.0	84.0					X																	12938298		2201	4300	6501	SO:0001583	missense	51311	exon2			TGTTCCAGGAACT	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1139A>G	X.37:g.12938298A>G	ENSP00000218032:p.Gln380Arg	63.0	0.0		59.0	4.0	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	A	7.190	0.591284	0.13812	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.30448	1.53;1.7	5.67	4.51	0.55191	.	0.198166	0.24856	N	0.035058	T	0.19644	0.0472	N	0.25060	0.705	0.24994	N	0.991519	B;B	0.22746	0.074;0.074	B;B	0.17979	0.02;0.02	T	0.16719	-1.0393	10	0.22706	T	0.39	.	10.7201	0.46036	0.9244:0.0:0.0756:0.0	.	380;398	Q9NR97;D1CS70	TLR8_HUMAN;.	R	380;398	ENSP00000218032:Q380R;ENSP00000312082:Q398R	ENSP00000218032:Q380R	Q	+	2	0	TLR8	12848219	0.976000	0.34144	0.914000	0.36105	0.437000	0.31866	2.446000	0.44908	0.877000	0.35895	0.486000	0.48141	CAG	.		0.358	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
TMEM87A	25963	hgsc.bcm.edu;bcgsc.ca	37	15	42531866	42531866	+	Splice_Site	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr15:42531866A>G	ENST00000389834.4	-	8	949		c.e8+1		TMEM87A_ENST00000448392.1_Splice_Site	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AAAGTCACTTACAATCATCAA	0.368																																					.		.											.	TMEM87A	91	0			c.684+2T>C						.						122.0	122.0	122.0					15																	42531866		2203	4298	6501	SO:0001630	splice_region_variant	25963	exon9			TCACTTACAATCA	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.684+1T>C	15.37:g.42531866A>G		99.0	0.0		82.0	4.0	NM_015497	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Splice_Site	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531829	0.85706	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1026	0.72292	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM87A	40319158	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.557000	0.90700	2.140000	0.66376	0.482000	0.46254	.	.		0.368	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	Intron
TMEM95	339168	hgsc.bcm.edu;bcgsc.ca	37	17	7259191	7259191	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr17:7259191T>C	ENST00000576060.1	+	3	288	c.261T>C	c.(259-261)taT>taC	p.Y87Y	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Silent_p.Y87Y|TMEM95_ENST00000330767.4_Silent_p.Y87Y			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	87						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				TCCCTTCATATTGGAGTTGGC	0.577											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y87Y		.											.	TMEM95	90	0			c.T261C						.						98.0	83.0	88.0					17																	7259191		2203	4300	6503	SO:0001819	synonymous_variant	339168	exon3			TTCATATTGGAGT		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.261T>C	17.37:g.7259191T>C		130.0	0.0	640	72.0	4.0	NM_198154	B7WPI7|Q6UXT3|Q8IW68	Silent	SNP	ENST00000576060.1	37																																																																																				.		0.577	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154	
TRIM23	373	hgsc.bcm.edu;bcgsc.ca	37	5	64890421	64890421	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:64890421T>C	ENST00000231524.9	-	10	1843	c.1472A>G	c.(1471-1473)cAc>cGc	p.H491R	TRIM23_ENST00000381018.3_Missense_Mutation_p.H491R|TRIM23_ENST00000274327.7_Missense_Mutation_p.H491R	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	491	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AAGTTCGCTGTGTGCTTCACT	0.338																																					p.H491R		.											.	TRIM23	230	0			c.A1472G						.						109.0	102.0	105.0					5																	64890421		2202	4300	6502	SO:0001583	missense	373	exon10			TCGCTGTGTGCTT	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1472A>G	5.37:g.64890421T>C	ENSP00000231524:p.His491Arg	85.0	0.0		74.0	4.0	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	9.197	1.027585	0.19512	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.61392	0.11;0.11;0.11	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	N	0.01473	-0.845	0.58432	D	0.999998	B;B;B	0.16603	0.0;0.002;0.018	B;B;B	0.20955	0.01;0.002;0.032	T	0.26503	-1.0101	10	0.13470	T	0.59	.	15.8515	0.78934	0.0:0.0:0.0:1.0	.	491;491;491	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	R	491	ENSP00000231524:H491R;ENSP00000370406:H491R;ENSP00000274327:H491R	ENSP00000231524:H491R	H	-	2	0	TRIM23	64926177	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.263000	0.72521	2.137000	0.66172	0.482000	0.46254	CAC	.		0.338	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRIM3	10612	hgsc.bcm.edu;bcgsc.ca	37	11	6471835	6471835	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:6471835A>G	ENST00000525074.1	-	10	2281	c.1887T>C	c.(1885-1887)gcT>gcC	p.A629A	TRIM3_ENST00000345851.3_Silent_p.A629A|TRIM3_ENST00000537602.1_Silent_p.A551A|TRIM3_ENST00000536344.1_Silent_p.A510A|TRIM3_ENST00000359518.3_Silent_p.A629A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	629					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGTTCACAGCCACAAAAT	0.478																																					p.A629A	Melanoma(6;5 510 1540 25169 29084)	.											.	TRIM3	714	0			c.T1887C						.						94.0	81.0	86.0					11																	6471835		2201	4296	6497	SO:0001819	synonymous_variant	10612	exon10			GTTCACAGCCACA	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1887T>C	11.37:g.6471835A>G		84.0	0.0		101.0	5.0	NM_001248006	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	CCDS7764.1																																																																																			.		0.478	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
TRIM29	23650	hgsc.bcm.edu;bcgsc.ca	37	11	120007994	120007994	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:120007994A>G	ENST00000341846.5	-	1	1167	c.746T>C	c.(745-747)tTc>tCc	p.F249S		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	249					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTGCTCCTGGAACATGCAAAG	0.607																																					p.F249S		.											.	TRIM29	291	0			c.T746C						.						96.0	89.0	91.0					11																	120007994		2203	4300	6503	SO:0001583	missense	23650	exon1			TCCTGGAACATGC	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.746T>C	11.37:g.120007994A>G	ENSP00000343129:p.Phe249Ser	96.0	0.0		94.0	5.0	NM_012101	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013488	0.75161	.	.	ENSG00000137699	ENST00000341846	T	0.39997	1.05	5.91	4.77	0.60923	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	N	0.03224	-0.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41106	-0.9527	9	.	.	.	.	13.3279	0.60469	0.868:0.1319:0.0:0.0	.	249	Q14134	TRI29_HUMAN	S	249	ENSP00000343129:F249S	.	F	-	2	0	TRIM29	119513204	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.193000	0.72075	1.041000	0.40125	0.533000	0.62120	TTC	.		0.607	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101	
TRIML1	339976	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	189068092	189068092	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:189068092G>A	ENST00000332517.3	+	6	1113	c.973G>A	c.(973-975)Gac>Aac	p.D325N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	325	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D325H(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGAAAGATTTGACCAGTCTGC	0.547																																					p.D325N	Melanoma(31;213 1036 16579 23968 32372)	.											.	TRIML1	156	1	Substitution - Missense(1)	endometrium(1)	c.G973A						.						105.0	99.0	101.0					4																	189068092		2203	4300	6503	SO:0001583	missense	339976	exon6			AGATTTGACCAGT	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.973G>A	4.37:g.189068092G>A	ENSP00000327738:p.Asp325Asn	127.0	0.0		109.0	5.0	NM_178556	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	19.93	3.917648	0.73098	.	.	ENSG00000184108	ENST00000332517	T	0.15952	2.38	4.92	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.23410	0.0566	L	0.50919	1.6	0.37246	D	0.906365	D	0.57899	0.981	P	0.56514	0.8	T	0.01869	-1.1257	10	0.26408	T	0.33	-38.8901	6.7704	0.23591	0.1815:0.0:0.8185:0.0	.	325	Q8N9V2	TRIML_HUMAN	N	325	ENSP00000327738:D325N	ENSP00000327738:D325N	D	+	1	0	TRIML1	189305086	0.032000	0.19561	1.000000	0.80357	0.838000	0.47535	1.110000	0.31147	2.749000	0.94314	0.550000	0.68814	GAC	.		0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
TRRAP	8295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	98609873	98609873	+	Silent	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:98609873C>T	ENST00000359863.4	+	72	11684	c.11475C>T	c.(11473-11475)ctC>ctT	p.L3825L	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Silent_p.L3814L|TRRAP_ENST00000355540.3_Silent_p.L3796L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3825	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACAACCTCGCCCAGTTCG	0.652																																					p.L3825L		.											.	TRRAP	923	0			c.C11475T						.						53.0	48.0	50.0					7																	98609873		2203	4300	6503	SO:0001819	synonymous_variant	8295	exon72			CAACCTCGCCCAG	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11475C>T	7.37:g.98609873C>T		81.0	0.0		63.0	12.0	NM_001244580	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.306	1.054218	0.19907	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.16	-4.29	0.03721	.	.	.	.	.	T	0.53769	0.1817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53809	-0.8386	4	.	.	.	.	10.3402	0.43873	0.0:0.2236:0.3968:0.3796	.	.	.	.	L	3554	.	.	S	+	2	0	TRRAP	98447809	0.022000	0.18835	0.967000	0.41034	0.993000	0.82548	-0.981000	0.03766	-0.770000	0.04614	-0.345000	0.07892	TCG	.		0.652	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TSHZ1	10194	hgsc.bcm.edu;bcgsc.ca	37	18	72998514	72998514	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr18:72998514A>G	ENST00000580243.1	+	2	1500	c.1152A>G	c.(1150-1152)aaA>aaG	p.K384K	TSHZ1_ENST00000322038.5_Silent_p.K339K			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	384					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGATCAGAAAGCAGCGAACC	0.622																																					p.K339K		.											.	TSHZ1	90	0			c.A1017G						.						104.0	109.0	107.0					18																	72998514		2203	4300	6503	SO:0001819	synonymous_variant	10194	exon2			TCAGAAAGCAGCG	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1152A>G	18.37:g.72998514A>G		97.0	0.0		66.0	5.0	NM_005786	O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37																																																																																				.		0.622	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
UGDH	7358	hgsc.bcm.edu;bcgsc.ca	37	4	39510222	39510222	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:39510222A>G	ENST00000316423.6	-	7	1212	c.870T>C	c.(868-870)gcT>gcC	p.A290A	UGDH_ENST00000501493.2_Silent_p.A223A|UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000507089.1_Silent_p.A193A|UGDH_ENST00000506179.1_Silent_p.A290A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	290					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GCAAATTCAGAGCCTCACAGA	0.393																																					p.A290A		.											.	UGDH	156	0			c.T870C						.						75.0	80.0	78.0					4																	39510222		2203	4300	6503	SO:0001819	synonymous_variant	7358	exon7			ATTCAGAGCCTCA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.870T>C	4.37:g.39510222A>G		84.0	0.0		50.0	4.0	NM_003359	B3KUU2|B4DN25|O60589	Silent	SNP	ENST00000316423.6	37	CCDS3455.1																																																																																			.		0.393	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	
UHRF2	115426	hgsc.bcm.edu;bcgsc.ca	37	9	6493855	6493855	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:6493855A>G	ENST00000276893.5	+	10	1695	c.1527A>G	c.(1525-1527)ggA>ggG	p.G509G	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	509	Methyl-CpG binding and interaction with HDAC1.|YDG. {ECO:0000255|PROSITE- ProRule:PRU00358}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CATACACTGGAAGCGGTGGTA	0.363																																					p.G509G		.											.	UHRF2	721	0			c.A1527G						.						88.0	80.0	83.0					9																	6493855		2203	4300	6503	SO:0001819	synonymous_variant	115426	exon10			CACTGGAAGCGGT	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1527A>G	9.37:g.6493855A>G		120.0	0.0		74.0	4.0	NM_152896	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	CCDS6469.1																																																																																			.		0.363	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	
UQCR10	29796	hgsc.bcm.edu;bcgsc.ca	37	22	30165668	30165668	+	Splice_Site	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr22:30165668A>G	ENST00000330029.6	+	2	182	c.152A>G	c.(151-153)aAg>aGg	p.K51R	ZMAT5_ENST00000344318.3_5'Flank|UQCR10_ENST00000401406.3_3'UTR|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	51					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|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)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						AAAATGCAGAAGCTGTGGAAA	0.493																																					p.K51R		.											.	UQCR10	23	0			c.A152G						.						65.0	70.0	68.0					22																	30165668		1897	4118	6015	SO:0001630	splice_region_variant	29796	exon2			TGCAGAAGCTGTG	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.151-1A>G	22.37:g.30165668A>G		154.0	0.0		134.0	6.0	NM_013387	B5MCM5|Q9T2V6	Missense_Mutation	SNP	ENST00000330029.6	37	CCDS46680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.91|13.91	2.378985|2.378985	0.42207|0.42207	.|.	.|.	ENSG00000184076|ENSG00000184076	ENST00000330029;ENST00000406782|ENST00000332801	T|.	0.57107|.	0.42|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|0.289711	.|0.25006	.|N	.|0.033872	T|T	0.67021|0.67021	0.2849|0.2849	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.39157|.	0.662|.	P|.	0.48654|.	0.585|.	T|T	0.70565|0.70565	-0.4837|-0.4837	8|6	0.33141|0.87932	T|D	0.24|0	-0.9291|-0.9291	10.795|10.795	0.46455|0.46455	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	51|.	Q9UDW1|.	QCR9_HUMAN|.	R|G	51;70|51	ENSP00000332887:K51R|.	ENSP00000332887:K51R|ENSP00000333278:S51G	K|S	+|+	2|1	0|0	UQCR10|UQCR10	28495668|28495668	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.697000|6.697000	0.74603|0.74603	2.110000|2.110000	0.64415|0.64415	0.529000|0.529000	0.55759|0.55759	AAG|AGC	.		0.493	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387	Missense_Mutation
VPS13A	23230	hgsc.bcm.edu;bcgsc.ca	37	9	79960046	79960046	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:79960046A>G	ENST00000360280.3	+	52	7537	c.7277A>G	c.(7276-7278)cAa>cGa	p.Q2426R	VPS13A_ENST00000357409.5_Missense_Mutation_p.Q2426R|VPS13A_ENST00000376634.4_Missense_Mutation_p.Q2426R|VPS13A_ENST00000376636.3_Missense_Mutation_p.Q2387R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2426					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAACTTGTTCAATACAATCAA	0.313																																					p.Q2426R		.											.	VPS13A	161	0			c.A7277G						.						126.0	127.0	127.0					9																	79960046		2203	4298	6501	SO:0001583	missense	23230	exon52			TTGTTCAATACAA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7277A>G	9.37:g.79960046A>G	ENSP00000353422:p.Gln2426Arg	104.0	0.0		88.0	4.0	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	2.662	-0.279511	0.05642	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.26	5.26	0.73747	Vacuolar protein sorting-associated protein (1);	0.670270	0.14937	N	0.289778	T	0.17746	0.0426	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.10296	0.001;0.003;0.002;0.002	B;B;B;B	0.11329	0.003;0.006;0.006;0.004	T	0.09357	-1.0678	10	0.19590	T	0.45	.	10.9338	0.47233	0.843:0.157:0.0:0.0	.	2387;2426;2426;2426	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	R	2426;2387;2426;2426	ENSP00000365821:Q2426R;ENSP00000365823:Q2387R;ENSP00000353422:Q2426R;ENSP00000349985:Q2426R	ENSP00000349985:Q2426R	Q	+	2	0	VPS13A	79149866	1.000000	0.71417	0.761000	0.31378	0.032000	0.12392	5.624000	0.67764	1.980000	0.57719	0.477000	0.44152	CAA	.		0.313	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS37C	55048	hgsc.bcm.edu;bcgsc.ca	37	11	60900811	60900811	+	Splice_Site	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:60900811T>C	ENST00000301765.5	-	4	498		c.e4-2			NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)						endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						AAAATTTCTCTGGAAGGGAGG	0.527																																					.		.											.	VPS37C	90	0			c.266-2A>G						.						65.0	50.0	55.0					11																	60900811		2203	4299	6502	SO:0001630	splice_region_variant	55048	exon5			TTTCTCTGGAAGG	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.266-2A>G	11.37:g.60900811T>C		69.0	0.0		61.0	4.0	NM_017966	Q8N3K4	Splice_Site	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956540	0.73902	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3137	0.60394	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS37C	60657387	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.060000	0.64312	1.880000	0.54463	0.459000	0.35465	.	.		0.527	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	Intron
VSTM1	284415	hgsc.bcm.edu;bcgsc.ca	37	19	54545427	54545427	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:54545427T>C	ENST00000338372.2	-	6	686	c.511A>G	c.(511-513)Aag>Gag	p.K171E	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.K83E|VSTM1_ENST00000376626.1_Missense_Mutation_p.K140E	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	171					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATCTACCTCTTGGTGGATTCC	0.507																																					p.K171E		.											.	VSTM1	90	0			c.A511G						.						148.0	152.0	151.0					19																	54545427		2203	4300	6503	SO:0001583	missense	284415	exon6			ACCTCTTGGTGGA	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.511A>G	19.37:g.54545427T>C	ENSP00000343366:p.Lys171Glu	123.0	0.0		92.0	4.0	NM_198481	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057261	0.36277	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.44482	2.58;6.81;6.49;0.92	3.24	0.898	0.19264	.	0.497894	0.14973	N	0.287670	T	0.22205	0.0535	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.30584	0.286;0.286	B;B	0.20384	0.029;0.029	T	0.10382	-1.0632	10	0.31617	T	0.26	-4.4272	3.0861	0.06278	0.0:0.1536:0.2457:0.6007	.	140;171	D2DJS4;Q6UX27	.;VSTM1_HUMAN	E	61;171;140;83	ENSP00000409412:K61E;ENSP00000343366:K171E;ENSP00000365813:K140E;ENSP00000444153:K83E	ENSP00000343366:K171E	K	-	1	0	VSTM1	59237239	0.004000	0.15560	0.127000	0.21898	0.003000	0.03518	-0.405000	0.07196	0.130000	0.18549	-0.394000	0.06481	AAG	.		0.507	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	
VSTM4	196740	hgsc.bcm.edu;bcgsc.ca	37	10	50256529	50256529	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr10:50256529C>T	ENST00000332853.4	-	6	792	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTACCTTTGGCAGGGACTGCG	0.547																																					p.A257T		.											.	VSTM4	154	0			c.G769A						.						101.0	88.0	92.0					10																	50256529		2203	4300	6503	SO:0001583	missense	196740	exon6			CTTTGGCAGGGAC	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.769G>A	10.37:g.50256529C>T	ENSP00000331062:p.Ala257Thr	87.0	0.0		51.0	4.0	NM_001031746	B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499386	0.85069	.	.	ENSG00000165633	ENST00000332853	T	0.08634	3.07	6.17	6.17	0.99709	.	0.171431	0.50627	D	0.000108	T	0.17066	0.0410	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.01702	-1.1292	10	0.45353	T	0.12	-36.3062	16.3795	0.83443	0.0:1.0:0.0:0.0	.	257	Q8IW00	VSTM4_HUMAN	T	257	ENSP00000331062:A257T	ENSP00000331062:A257T	A	-	1	0	VSTM4	49926535	0.996000	0.38824	0.993000	0.49108	0.916000	0.54674	4.440000	0.59975	2.941000	0.99782	0.655000	0.94253	GCC	.		0.547	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
WDFY3	23001	hgsc.bcm.edu;bcgsc.ca	37	4	85731416	85731416	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr4:85731416A>G	ENST00000295888.4	-	14	2376	c.1969T>C	c.(1969-1971)Ttg>Ctg	p.L657L	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Silent_p.L657L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	657					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCAACGAGCAAGGATGTAATG	0.443																																					p.L657L		.											.	WDFY3	93	0			c.T1969C						.						68.0	63.0	65.0					4																	85731416		2203	4300	6503	SO:0001819	synonymous_variant	23001	exon14			CGAGCAAGGATGT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1969T>C	4.37:g.85731416A>G		87.0	0.0		47.0	4.0	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																			.		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDR27	253769	hgsc.bcm.edu;bcgsc.ca	37	6	170002368	170002368	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:170002368T>C	ENST00000448612.1	-	23	2480	c.2371A>G	c.(2371-2373)Atc>Gtc	p.I791V	WDR27_ENST00000333572.6_Missense_Mutation_p.I791V|WDR27_ENST00000423258.1_Missense_Mutation_p.I664V|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	761						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGAAAGCGATTCCACATGGA	0.473																																					p.I791V		.											.	WDR27	69	0			c.A2371G						.						36.0	39.0	38.0					6																	170002368		1924	4135	6059	SO:0001583	missense	253769	exon23			AAGCGATTCCACA	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2371A>G	6.37:g.170002368T>C	ENSP00000416289:p.Ile791Val	57.0	0.0		72.0	5.0	NM_182552	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	T	0.063	-1.220356	0.01542	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.38077	5.1;1.16;5.1	4.56	-5.92	0.02261	.	.	.	.	.	T	0.04092	0.0114	N	0.16016	0.355	0.09310	N	1	B;B;B	0.20887	0.004;0.007;0.049	B;B;B	0.20184	0.002;0.003;0.028	T	0.38222	-0.9671	9	0.02654	T	1	-0.852	8.4385	0.32801	0.0:0.5975:0.1369:0.2656	.	791;664;791	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	V	791;791;664	ENSP00000416289:I791V;ENSP00000330265:I791V;ENSP00000397869:I664V	ENSP00000330265:I791V	I	-	1	0	WDR27	169744293	0.044000	0.20184	0.000000	0.03702	0.003000	0.03518	-0.027000	0.12371	-1.084000	0.03092	-0.417000	0.06048	ATC	.		0.473	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
WDR31	114987	hgsc.bcm.edu;bcgsc.ca	37	9	116079110	116079110	+	Silent	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr9:116079110A>G	ENST00000374193.4	-	11	1269	c.1023T>C	c.(1021-1023)tgT>tgC	p.C341C	WDR31_ENST00000374195.3_Silent_p.C216C|WDR31_ENST00000341761.4_Silent_p.C340C|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	341										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						TAAAACTTGCACACAATAAGG	0.527																																					p.C341C		.											.	WDR31	90	0			c.T1023C						.						141.0	128.0	132.0					9																	116079110		2203	4300	6503	SO:0001819	synonymous_variant	114987	exon11			ACTTGCACACAAT	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.1023T>C	9.37:g.116079110A>G		90.0	0.0		56.0	4.0	NM_001012361	Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	CCDS35110.1																																																																																			.		0.527	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241	
WDR78	79819	broad.mit.edu;bcgsc.ca	37	1	67306354	67306354	+	Splice_Site	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr1:67306354T>C	ENST00000371026.3	-	9	1347	c.1292A>G	c.(1291-1293)gAa>gGa	p.E431G	WDR78_ENST00000431318.1_Splice_Site_p.E177G|WDR78_ENST00000371023.3_Splice_Site_p.E431G	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	431	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGTTCAGGTTCTAAAGTTTA	0.398																																					p.E431G		.											.	WDR78	92	0			c.A1292G						.						81.0	85.0	83.0					1																	67306354		2203	4300	6503	SO:0001630	splice_region_variant	79819	exon9			TCAGGTTCTAAAG	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1292-1A>G	1.37:g.67306354T>C		151.0	0.0		93.0	5.0	NM_207014	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.861|9.861	1.196279|1.196279	0.22037|0.22037	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023|ENST00000531552	T;T;T;T|T	0.68765|0.29917	0.3;-0.33;-0.35;2.07|1.55	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.100081|.	0.64402|.	D|.	0.000004|.	T|T	0.34687|0.34687	0.0906|0.0906	M|M	0.67953|0.67953	2.075|2.075	0.37345|0.37345	D|D	0.910575|0.910575	B;B;B|.	0.16802|.	0.005;0.019;0.009|.	B;B;B|.	0.15870|.	0.014;0.012;0.009|.	T|T	0.19745|0.19745	-1.0296|-1.0296	10|7	0.59425|0.48119	D|T	0.04|0.1	.|.	12.503|12.503	0.55966|0.55966	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	177;431;431|.	Q5VTH9-3;A0AVI9;Q5VTH9|.	.;.;WDR78_HUMAN|.	G|R	431;177;197;431|53	ENSP00000360065:E431G;ENSP00000393182:E177G;ENSP00000433682:E197G;ENSP00000360062:E431G|ENSP00000433037:K53R	ENSP00000360062:E431G|ENSP00000433037:K53R	E|K	-|-	2|2	0|0	WDR78|WDR78	67078942|67078942	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.068000|0.068000	0.16541|0.16541	2.620000|2.620000	0.46410|0.46410	2.254000|2.254000	0.74563|0.74563	0.528000|0.528000	0.53228|0.53228	GAA|AAA	.		0.398	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Missense_Mutation
XPO7	23039	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	21848326	21848326	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:21848326A>G	ENST00000252512.9	+	18	2037	c.1937A>G	c.(1936-1938)gAg>gGg	p.E646G	XPO7_ENST00000434536.1_Missense_Mutation_p.E655G|XPO7_ENST00000433566.4_Missense_Mutation_p.E647G	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	646					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAATAGAGCGAGCACTTTTCA	0.423																																					p.E646G		.											.	XPO7	273	0			c.A1937G						.						157.0	151.0	153.0					8																	21848326		1862	4095	5957	SO:0001583	missense	23039	exon18			AGAGCGAGCACTT	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1937A>G	8.37:g.21848326A>G	ENSP00000252512:p.Glu646Gly	88.0	0.0		21.0	4.0	NM_015024	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843186	0.91197	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.68624	-0.34;-0.34;-0.34	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	M	0.83774	2.66	0.80722	D	1	P;P;P	0.48640	0.749;0.913;0.913	B;P;P	0.45343	0.206;0.477;0.477	T	0.78006	-0.2373	10	0.51188	T	0.08	-19.812	16.0637	0.80856	1.0:0.0:0.0:0.0	.	647;655;646	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	G	655;646;647	ENSP00000404853:E655G;ENSP00000252512:E646G;ENSP00000410249:E647G	ENSP00000252512:E646G	E	+	2	0	XPO7	21904272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.313000	0.96297	2.274000	0.75844	0.528000	0.53228	GAG	.		0.423	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	
YTHDC2	64848	hgsc.bcm.edu;bcgsc.ca	37	5	112927702	112927702	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr5:112927702A>G	ENST00000161863.4	+	28	4252	c.4039A>G	c.(4039-4041)Agg>Ggg	p.R1347G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1347	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGGATTTTCTAGGATGTCTTC	0.418																																					p.R1347G		.											.	YTHDC2	92	0			c.A4039G						.						47.0	45.0	46.0					5																	112927702		2201	4299	6500	SO:0001583	missense	64848	exon28			TTTTCTAGGATGT	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4039A>G	5.37:g.112927702A>G	ENSP00000161863:p.Arg1347Gly	84.0	0.0		87.0	4.0	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748349	0.69533	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.36157	1.27	5.83	3.3	0.37823	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.79614	2.46	0.80722	D	1	D	0.57257	0.979	D	0.65233	0.933	T	0.61038	-0.7143	10	0.87932	D	0	.	12.9384	0.58329	0.613:0.387:0.0:0.0	.	1347	Q9H6S0	YTDC2_HUMAN	G	1347;1257	ENSP00000161863:R1347G	ENSP00000161863:R1347G	R	+	1	2	YTHDC2	112955601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.692000	0.47018	0.399000	0.25367	0.528000	0.53228	AGG	.		0.418	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
ZC2HC1B	153918	hgsc.bcm.edu;bcgsc.ca	37	6	144207245	144207245	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr6:144207245A>G	ENST00000237275.6	+	3	271	c.167A>G	c.(166-168)cAg>cGg	p.Q56R	ZC2HC1B_ENST00000539295.1_5'UTR	NM_001013623.2	NP_001013645.1	Q5TFG8	ZC21B_HUMAN	zinc finger, C2HC-type containing 1B	56							metal ion binding (GO:0046872)			endometrium(1)	1						CAAAGATTACAGGGCACTGAC	0.403																																					p.Q56R		.											.	.	.	0			c.A167G						.						140.0	116.0	123.0					6																	144207245		692	1591	2283	SO:0001583	missense	153918	exon3			GATTACAGGGCAC	BC146950	CCDS47495.1	6q24.2	2013-01-10	2012-02-03	2012-02-03	ENSG00000118491	ENSG00000118491		"""Zinc fingers, C2HC-type containing"""	21174	protein-coding gene	gene with protein product			"""family with sequence similarity 164, member B"", ""chromosome 6 open reading frame 94"""	FAM164B, C6orf94			Standard	NM_001013623		Approved	dJ468K18.5	uc010khk.3	Q5TFG8	OTTHUMG00000015734	ENST00000237275.6:c.167A>G	6.37:g.144207245A>G	ENSP00000237275:p.Gln56Arg	154.0	0.0		111.0	5.0	NM_001013623	B2RUZ7|Q5TFG9	Missense_Mutation	SNP	ENST00000237275.6	37	CCDS47495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.17|12.17	1.858654|1.858654	0.32791|0.32791	.|.	.|.	ENSG00000118491|ENSG00000118491	ENST00000237275|ENST00000416313	T|.	0.30981|.	1.51|.	5.41|5.41	4.25|4.25	0.50352|0.50352	.|.	0.212726|.	0.33199|.	N|.	0.005174|.	T|T	0.37046|0.37046	0.0989|0.0989	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.10450|.	0.005|.	T|T	0.22906|0.22906	-1.0203|-1.0203	10|5	0.30078|.	T|.	0.28|.	-5.8352|-5.8352	9.0317|9.0317	0.36262|0.36262	0.915:0.0:0.085:0.0|0.915:0.0:0.085:0.0	.|.	56|.	Q5TFG8|.	F164B_HUMAN|.	R|G	56|47	ENSP00000237275:Q56R|.	ENSP00000237275:Q56R|.	Q|R	+|+	2|1	0|2	C6orf94|C6orf94	144248938|144248938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.790000|0.790000	0.44656|0.44656	3.616000|3.616000	0.54174|0.54174	0.904000|0.904000	0.36572|0.36572	0.533000|0.533000	0.62120|0.62120	CAG|AGG	.		0.403	ZC2HC1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001013623	
ZC3H12B	340554	hgsc.bcm.edu;bcgsc.ca	37	X	64709115	64709115	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chrX:64709115T>C	ENST00000338957.4	+	1	501	c.434T>C	c.(433-435)cTt>cCt	p.L145P	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L134P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	145							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGCAGAGCTTGTCAGACTT	0.478																																					p.L145P		.											.	ZC3H12B	131	0			c.T434C						.						86.0	83.0	84.0					X																	64709115		1938	4128	6066	SO:0001583	missense	340554	exon1			CAGAGCTTGTCAG	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.434T>C	X.37:g.64709115T>C	ENSP00000340839:p.Leu145Pro	78.0	0.0		74.0	4.0	NM_001010888	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781242	0.70222	.	.	ENSG00000102053	ENST00000338957;ENST00000423889	T;T	0.61627	0.09;0.11	5.36	5.36	0.76844	.	0.458821	0.17941	N	0.156844	T	0.75280	0.3828	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77587	-0.2532	10	0.87932	D	0	-28.8678	13.1206	0.59325	0.0:0.0:0.0:1.0	.	134	Q5HYM0	ZC12B_HUMAN	P	145;134	ENSP00000340839:L145P;ENSP00000408077:L134P	ENSP00000340839:L145P	L	+	2	0	ZC3H12B	64625840	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.423000	0.80229	1.983000	0.57843	0.412000	0.27726	CTT	.		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
ZEB2	9839	hgsc.bcm.edu;bcgsc.ca	37	2	145162558	145162558	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr2:145162558T>C	ENST00000558170.2	-	5	1621	c.437A>G	c.(436-438)gAa>gGa	p.E146G	ZEB2_ENST00000539609.3_Missense_Mutation_p.E122G|ZEB2_ENST00000303660.4_Missense_Mutation_p.E146G|ZEB2_ENST00000409487.3_Missense_Mutation_p.E146G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	146					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGCAAAGTATTCCTCAAAATC	0.453																																					p.E146G	Melanoma(33;1235 1264 5755 16332)	.											.	ZEB2	297	0			c.A437G						.						91.0	81.0	84.0					2																	145162558		2203	4300	6503	SO:0001583	missense	9839	exon5			AAGTATTCCTCAA	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.437A>G	2.37:g.145162558T>C	ENSP00000454157:p.Glu146Gly	95.0	0.0		95.0	4.0	NM_014795	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.93|15.93	2.979008|2.979008	0.53827|0.53827	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000431672;ENST00000440875	D;T;T;T;T|.	0.81579|.	-1.51;-1.05;-1.05;-1.05;-1.05|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.143203|.	0.64402|.	D|.	0.000005|.	T|T	0.59783|0.59783	0.2219|0.2219	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B;B|.	0.43352|.	0.804;0.435;0.231;0.231|.	B;B;B;B|.	0.37144|.	0.242;0.078;0.054;0.054|.	T|T	0.55503|0.55503	-0.8131|-0.8131	10|5	0.66056|.	D|.	0.02|.	-12.5066|-12.5066	16.5655|16.5655	0.84588|0.84588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	122;11;145;146|.	F5H814;Q53TD9;A0JP08;O60315|.	.;.;.;ZEB2_HUMAN|.	G|D	141;122;146;146;146;146|112;133	ENSP00000443792:E122G;ENSP00000302501:E146G;ENSP00000386854:E146G;ENSP00000395496:E146G;ENSP00000376601:E146G|.	ENSP00000302501:E146G|.	E|N	-|-	2|1	0|0	ZEB2|ZEB2	144879028|144879028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.040000|8.040000	0.89188|0.89188	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	GAA|AAT	.		0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	77616406	77616406	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr8:77616406A>G	ENST00000521891.2	+	2	531	c.83A>G	c.(82-84)gAt>gGt	p.D28G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D28G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D28G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D28G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACACAACTTGATAATGAGGTG	0.498										HNSCC(33;0.089)																											p.D28G		.											.	ZFHX4	98	0			c.A83G						.						60.0	61.0	61.0					8																	77616406		1995	4194	6189	SO:0001583	missense	79776	exon2			AACTTGATAATGA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.83A>G	8.37:g.77616406A>G	ENSP00000430497:p.Asp28Gly	182.0	0.0		281.0	27.0	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142703	0.57044	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.53	5.53	0.82687	.	0.000000	0.45867	U	0.000325	T	0.29355	0.0731	N	0.19112	0.55	0.58432	D	0.999998	D;D;D;P	0.61697	0.982;0.972;0.99;0.89	B;P;P;B	0.48840	0.388;0.453;0.592;0.419	T	0.05419	-1.0886	10	0.54805	T	0.06	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	28;28;28;28	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	G	28	ENSP00000430497:D28G;ENSP00000399605:D28G;ENSP00000050961:D28G;ENSP00000428525:D28G;ENSP00000429495:D28G;ENSP00000427775:D28G;ENSP00000427739:D28G;ENSP00000430848:D28G	ENSP00000050961:D28G	D	+	2	0	ZFHX4	77778961	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.585000	0.67497	2.324000	0.78689	0.533000	0.62120	GAT	.		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFP1	162239	hgsc.bcm.edu;bcgsc.ca	37	16	75203861	75203861	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr16:75203861A>G	ENST00000393430.2	+	4	977	c.853A>G	c.(853-855)Aca>Gca	p.T285A	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.T252A|ZFP1_ENST00000570010.1_Missense_Mutation_p.T285A|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	285					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)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TGAACTCACCACACACCAGAG	0.418																																					p.T285A	NSCLC(187;1429 2122 10143 20357 42217)	.											.	ZFP1	92	0			c.A853G						.						72.0	72.0	72.0					16																	75203861		2198	4300	6498	SO:0001583	missense	162239	exon4			CTCACCACACACC	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.853A>G	16.37:g.75203861A>G	ENSP00000377080:p.Thr285Ala	118.0	0.0		81.0	4.0	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	A	3.669	-0.067883	0.07228	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.07216	3.21	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000134	T	0.03477	0.0100	N	0.05351	-0.065	0.21105	N	0.999788	P	0.41450	0.75	B	0.33960	0.173	T	0.41680	-0.9495	10	0.08381	T	0.77	-23.7449	12.6831	0.56932	1.0:0.0:0.0:0.0	.	285	Q6P2D0	ZFP1_HUMAN	A	285	ENSP00000377080:T285A	ENSP00000333192:T285A	T	+	1	0	ZFP1	73761362	0.000000	0.05858	0.992000	0.48379	0.992000	0.81027	-0.121000	0.10643	2.308000	0.77769	0.533000	0.62120	ACA	.		0.418	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
ZNF215	7762	hgsc.bcm.edu;bcgsc.ca	37	11	6977409	6977409	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr11:6977409C>T	ENST00000278319.5	+	7	1789	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	ZNF215_ENST00000414517.2_Missense_Mutation_p.H401Y|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	401					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCAGATCATTCACACAGGAGA	0.403																																					p.H401Y		.											.	ZNF215	514	0			c.C1201T						.						74.0	72.0	73.0					11																	6977409		2201	4296	6497	SO:0001583	missense	7762	exon7			ATCATTCACACAG	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1201C>T	11.37:g.6977409C>T	ENSP00000278319:p.His401Tyr	68.0	0.0		76.0	4.0	NM_013250	Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777075	0.90195	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.67523	-0.27;-0.27	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	D	0.86037	0.5837	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89404	0.3698	10	0.87932	D	0	-8.6708	15.8711	0.79119	0.0:1.0:0.0:0.0	.	401	Q9UL58	ZN215_HUMAN	Y	401	ENSP00000278319:H401Y;ENSP00000393202:H401Y	ENSP00000278319:H401Y	H	+	1	0	ZNF215	6933985	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.504000	0.66968	2.689000	0.91719	0.655000	0.94253	CAC	.		0.403	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
ZNF470	388566	hgsc.bcm.edu;bcgsc.ca	37	19	57088312	57088312	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr19:57088312A>G	ENST00000330619.8	+	6	1201	c.515A>G	c.(514-516)gAt>gGt	p.D172G	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.D172G	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	172					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)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAAAAAAGAGATCACTCTAAC	0.323																																					p.D172G		.											.	ZNF470	92	0			c.A515G						.						50.0	52.0	51.0					19																	57088312		2203	4300	6503	SO:0001583	missense	388566	exon6			AAAGAGATCACTC	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.515A>G	19.37:g.57088312A>G	ENSP00000333223:p.Asp172Gly	156.0	0.0		132.0	6.0	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.171175	0.00315	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06294	3.32;3.32	3.2	2.18	0.27775	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.24186	0.099	B	0.14578	0.011	T	0.44892	-0.9298	9	0.32370	T	0.25	.	6.7702	0.23589	0.8826:0.0:0.1174:0.0	.	172	Q6ECI4	ZN470_HUMAN	G	172	ENSP00000375590:D172G;ENSP00000333223:D172G	ENSP00000333223:D172G	D	+	2	0	ZNF470	61780124	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	1.101000	0.31037	0.620000	0.30215	-0.351000	0.07748	GAT	.		0.323	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF860	344787	hgsc.bcm.edu;bcgsc.ca	37	3	32032133	32032133	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:32032133A>G	ENST00000360311.4	+	2	2111	c.1562A>G	c.(1561-1563)cAa>cGa	p.Q521R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						GTTTTTAATCAACAAGCAACC	0.403																																					p.Q521R		.											.	ZNF860	1	0			c.A1562G						.						40.0	35.0	37.0					3																	32032133		692	1591	2283	SO:0001583	missense	344787	exon2			TTAATCAACAAGC	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1562A>G	3.37:g.32032133A>G	ENSP00000373274:p.Gln521Arg	141.0	0.0		107.0	5.0	NM_001137674	B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.965020	0.00049	.	.	ENSG00000197385	ENST00000360311	T	0.14893	2.47	0.309	-0.618	0.11576	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.02658	-0.545	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40739	-0.9547	8	.	.	.	.	4.8639	0.13598	0.7388:0.0:0.2612:0.0	.	521	A6NHJ4	ZN860_HUMAN	R	521	ENSP00000373274:Q521R	.	Q	+	2	0	ZNF860	32007137	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.656000	0.05342	-1.377000	0.02123	-1.381000	0.01174	CAA	.		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1		
ZNF92	168374	hgsc.bcm.edu;bcgsc.ca	37	7	64864692	64864692	+	Silent	SNP	T	T	C			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:64864692T>C	ENST00000328747.7	+	4	1864	c.1665T>C	c.(1663-1665)caT>caC	p.H555H	ZNF92_ENST00000357512.2_Silent_p.H523H|ZNF92_ENST00000450302.2_Silent_p.H486H|ZNF92_ENST00000431504.1_Silent_p.H479H	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	555					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTATTACACATCAGATAATTT	0.348																																					p.H555H		.											.	ZNF92	514	0			c.T1665C						.						42.0	49.0	47.0					7																	64864692		2203	4298	6501	SO:0001819	synonymous_variant	168374	exon4			TACACATCAGATA	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1665T>C	7.37:g.64864692T>C		106.0	0.0		82.0	4.0	NM_152626	A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	CCDS34646.1																																																																																			.		0.348	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626	
EXOG	9941	hgsc.bcm.edu;bcgsc.ca	37	3	38539163	38539164	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr3:38539163_38539164AA>TT	ENST00000287675.5	+	2	303_304	c.207_208AA>TT	c.(205-210)ttAAct>ttTTct	p.69_70LT>FS	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	69					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GATTCCCTTTAACTGGAACAGA	0.401																																					p.LT69FS		.											.	.	.	0			.						.																																			SO:0001583	missense	9941	.			CCCTTTAACTGGA	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	Exception_encountered	3.37:g.38539163_38539164delinsTT	ENSP00000287675:p.L69_T70delinsFS	115.0	0.0		81.0	5.0	.	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	DNP	ENST00000287675.5	37	CCDS2680.1																																																																																			.		0.401	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107	
ZNF716	441234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	57522850	57522851	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-DD-A119-01A-11D-A12Z-10	TCGA-DD-A119-10A-01D-A12Z-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	754b7a64-4a00-4461-a2e6-938ef1365f5d	91043a26-f026-4f25-86a7-7c7ab718c95b	g.chr7:57522850_57522851AA>TT	ENST00000420713.1	+	3	350_351	c.238_239AA>TT	c.(238-240)AAt>TTt	p.N80F		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						TATAAAGAGAAATGAGATGGTA	0.406																																					p.N80F		.											.	.	.	0			.						.																																			SO:0001583	missense	441234	.			AAGAGAAATGAGA	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	Exception_encountered	7.37:g.57522850_57522851delinsTT	ENSP00000394248:p.Asn80Phe	41.0	0.0		34.0	9.0	.		Missense_Mutation	DNP	ENST00000420713.1	37	CCDS55112.1																																																																																			.		0.406	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279	
