#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPATA6L	55064	broad.mit.edu	37	9	4605438	4605438	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr9:4605438A>C	ENST00000454239.2	-	11	1243	c.998T>G	c.(997-999)tTc>tGc	p.F333C	SPATA6L_ENST00000381890.5_Missense_Mutation_p.S273A|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F210C|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F275C			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	333																	ACCAGGATGGAACCTGCTCAA	0.413																																						ENST00000454239.2																			0											c.(997-999)tTc>tGc		spermatogenesis associated 6-like							100.0	93.0	95.0					9																	4605438		1901	4147	6048	SO:0001583	missense	55064							g.chr9:4605438A>C	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.998T>G	9.37:g.4605438A>C	ENSP00000404277:p.Phe333Cys					SPATA6L_ENST00000381890.5_Missense_Mutation_p.S273A|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F275C|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F210C	p.F333C			B4DIY4	B4DIY4_HUMAN			11	1243	-			275					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.998T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.93|10.93	1.491055|1.491055	0.26774|0.26774	.|.	.|.	ENSG00000106686|ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895|ENST00000381890	T;T;T|T	0.29142|0.48522	1.63;1.58;1.58|0.81	4.81|4.81	-0.184|-0.184	0.13280|0.13280	.|.	2.941040|.	0.01032|.	N|.	0.004158|.	T|T	0.35537|0.35537	0.0935|0.0935	M|M	0.63843|0.63843	1.955|1.955	0.20074|0.20074	N|N	0.999936|0.999936	B;B;B|.	0.20261|.	0.02;0.043;0.023|.	B;B;B|.	0.21546|.	0.025;0.035;0.015|.	T|T	0.36286|0.36286	-0.9754|-0.9754	10|7	0.87932|0.02654	D|T	0|1	-10.3562|-10.3562	3.9481|3.9481	0.09356|0.09356	0.5259:0.1834:0.2907:0.0|0.5259:0.1834:0.2907:0.0	.|.	275;210;333|.	B4DIY4;E7ENB5;Q8N4H0|.	.;.;CI068_HUMAN|.	C|A	333;275;210|273	ENSP00000404277:F333C;ENSP00000417063:F275C;ENSP00000371319:F210C|ENSP00000371314:S273A	ENSP00000371319:F210C|ENSP00000371314:S273A	F|S	-|-	2|1	0|0	C9orf68|C9orf68	4595438|4595438	0.840000|0.840000	0.29493|0.29493	0.161000|0.161000	0.22692|0.22692	0.246000|0.246000	0.25737|0.25737	1.025000|1.025000	0.30090|0.30090	0.082000|0.082000	0.17018|0.17018	-0.290000|-0.290000	0.09829|0.09829	TTC|TCC		0.413	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		18	34	0	0	0	1	0	18	34				
ACACA	31	broad.mit.edu	37	17	35627724	35627724	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr17:35627724A>G	ENST00000394406.2	-	10	1116	c.926T>C	c.(925-927)aTg>aCg	p.M309T	ACACA_ENST00000335166.5_Missense_Mutation_p.M231T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000353139.5_Missense_Mutation_p.M346T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCCTTGATCATTACTGGATA	0.398																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1036-1038)aTg>aCg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						219.0	211.0	213.0					17																	35627724		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35627724A>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.926T>C	17.37:g.35627724A>G	ENSP00000377928:p.Met309Thr					ACACA_ENST00000394406.2_Missense_Mutation_p.M309T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000335166.5_Missense_Mutation_p.M231T	p.M346T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			10	1518	-		Breast(25;0.00157)|Ovarian(249;0.15)	309			ATP-grasp.|Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1037T>C	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457031	0.84317	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.56	5.56	0.83823	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.98351	4.21	0.80722	D	1	P;D;D	0.89917	0.917;1.0;1.0	P;D;D	0.87578	0.64;0.998;0.984	D	0.98977	1.0803	10	0.87932	D	0	-20.9179	15.7051	0.77573	1.0:0.0:0.0:0.0	.	346;309;251	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	346;251;309;333;231;231	ENSP00000344789:M346T;ENSP00000353898:M251T;ENSP00000377928:M309T;ENSP00000335323:M231T	ENSP00000335323:M231T	M	-	2	0	ACACA	32701837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.115000	0.64714	0.477000	0.44152	ATG		0.398	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		12	85	0	0	0	1	0	12	85				
RGS8	85397	broad.mit.edu	37	1	182635109	182635109	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr1:182635109T>C	ENST00000483095.2	-	5	445	c.188A>G	c.(187-189)cAt>cGt	p.H63R	RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R|RGS8_ENST00000367556.1_Missense_Mutation_p.H63R			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	63	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTTACACTTATGAGAGAGAAG	0.393																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						c.(187-189)cAt>cGt		regulator of G-protein signaling 8							175.0	175.0	175.0					1																	182635109		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182635109T>C	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.188A>G	1.37:g.182635109T>C	ENSP00000426289:p.His63Arg					RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000367556.1_Missense_Mutation_p.H63R|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R	p.H63R			P57771	RGS8_HUMAN			5	445	-			63			RGS.		B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.188A>G	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175834	0.57692	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.47	5.47	0.80525	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.051141	0.85682	D	0.000000	T	0.33440	0.0863	L	0.58101	1.795	0.41652	D	0.989137	P;P	0.48694	0.914;0.904	B;B	0.42495	0.309;0.389	T	0.21861	-1.0233	10	0.59425	D	0.04	.	13.0605	0.59003	0.0:0.0:0.0:1.0	.	63;81	P57771;P57771-2	RGS8_HUMAN;.	R	63;81;63;63	ENSP00000426289:H63R;ENSP00000258302:H81R;ENSP00000356528:H63R;ENSP00000356527:H63R	ENSP00000258302:H81R	H	-	2	0	RGS8	180901732	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.848000	0.62874	2.070000	0.61991	0.533000	0.62120	CAT		0.393	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		4	112	0	0	0	1	0	4	112				
PRMT9	90826	broad.mit.edu	37	4	148575325	148575325	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr4:148575325C>T	ENST00000322396.6	-	9	1965	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		575	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATGTTCTGTACAGTATTACTC	0.448																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1723-1725)Gta>Ata		protein arginine methyltransferase 10 (putative)							143.0	131.0	135.0					4																	148575325		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575325C>T																												ENST00000322396.6:c.1723G>A	4.37:g.148575325C>T	ENSP00000314396:p.Val575Ile					PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I|TMEM184C_ENST00000508208.1_Intron	p.V575I	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			9	1965	-			575					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1723G>A	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	1.138	-0.650303	0.03506	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.30714	1.52;1.52	5.86	1.13	0.20643	.	1.522720	0.03102	N	0.161288	T	0.12220	0.0297	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.23302	T	0.38	-38.9013	4.1968	0.10447	0.1032:0.4138:0.3334:0.1496	.	575	Q6P2P2	ANM10_HUMAN	I	575;462	ENSP00000314396:V575I;ENSP00000439508:V462I	ENSP00000314396:V575I	V	-	1	0	PRMT10	148794775	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-1.689000	0.01923	0.764000	0.33197	0.655000	0.94253	GTA		0.448	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			5	52	0	0	0	1	0	5	52				
CACNA2D3	55799	broad.mit.edu	37	3	54871235	54871235	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr3:54871235T>C	ENST00000474759.1	+	15	1496	c.1448T>C	c.(1447-1449)gTg>gCg	p.V483A	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	483	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GCCATGCCTGTGTTTAGTAAG	0.542																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(1447-1449)gTg>gCg		calcium channel, voltage-dependent, alpha 2/delta subunit 3							209.0	204.0	206.0					3																	54871235		2006	4176	6182	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54871235T>C	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1448T>C	3.37:g.54871235T>C	ENSP00000419101:p.Val483Ala					CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A	p.V483A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	15	1496	+			483			Cache.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1448T>C	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720671	0.89205	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12984	2.63;2.63;2.63;2.66	6.06	6.06	0.98353	Cache (1);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.81497	2.545	0.47511	D	0.999443	D	0.57899	0.981	D	0.72338	0.977	T	0.18023	-1.0350	10	0.48119	T	0.1	0.0	15.1804	0.72952	0.0:0.0:0.0:1.0	.	483	Q8IZS8	CA2D3_HUMAN	A	483;483;483;389;389;382	ENSP00000389506:V483A;ENSP00000419101:V483A;ENSP00000288197:V483A;ENSP00000417279:V389A	ENSP00000288197:V483A	V	+	2	0	CACNA2D3	54846275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.119000	0.77145	2.324000	0.78689	0.533000	0.62120	GTG		0.542	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	76	0	0	0	1	0	4	76				
KDM5C	8242	broad.mit.edu	37	X	53231143	53231143	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chrX:53231143T>C	ENST00000375401.3	-	13	2291	c.1759A>G	c.(1759-1761)Aac>Gac	p.N587D	KDM5C_ENST00000452825.3_Missense_Mutation_p.N520D|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000375379.3_Missense_Mutation_p.N587D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	587	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCACACTGGTTTGTGCGGACA	0.478			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1558-1560)Aac>Gac		lysine (K)-specific demethylase 5C							111.0	97.0	102.0					X																	53231143		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53231143T>C	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1759A>G	X.37:g.53231143T>C	ENSP00000364550:p.Asn587Asp					KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.N587D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D|KDM5C_ENST00000375401.3_Missense_Mutation_p.N587D	p.N520D	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			11	2090	-			587			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1558A>G	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011094	0.54361	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.68	5.68	0.88126	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	N	0.00729	-1.24	0.51482	D	0.99992	B;B;B	0.25521	0.023;0.065;0.128	B;B;B	0.34138	0.023;0.134;0.176	T	0.44952	-0.9294	10	0.23891	T	0.37	-10.9174	12.6825	0.56930	0.0:0.0:0.0:1.0	.	520;586;587	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	D	520;587;586;587;546	ENSP00000445176:N520D;ENSP00000364550:N587D;ENSP00000385394:N586D;ENSP00000364528:N587D;ENSP00000364532:N546D	ENSP00000364528:N587D	N	-	1	0	KDM5C	53247868	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.902000	0.55061	0.486000	0.48141	AAC		0.478	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		10	36	0	0	0	1	0	10	36				
PAPSS2	9060	broad.mit.edu	37	10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(181-183)gCc>gTc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							148.0	151.0	150.0					10																	89472868		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89472868C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.182C>T	10.37:g.89472868C>T	ENSP00000354436:p.Ala61Val					PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR	p.A61V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	551	+		Melanoma(5;0.019)|Colorectal(252;0.123)	61					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.182C>T	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929172	0.92389	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.78364	-1.17;-1.17;-1.17	5.87	5.87	0.94306	Adenylylsulphate kinase, C-terminal (3);	0.046950	0.85682	N	0.000000	D	0.89942	0.6861	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.98;0.999	P;P	0.61477	0.717;0.889	D	0.91189	0.4982	10	0.87932	D	0	-17.7869	20.2245	0.98337	0.0:1.0:0.0:0.0	.	61;61	O95340;O95340-2	PAPS2_HUMAN;.	V	61;61;65;60	ENSP00000354436:A61V;ENSP00000406157:A61V;ENSP00000397123:A65V	ENSP00000354436:A61V	A	+	2	0	PAPSS2	89462848	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	GCC		0.473	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			4	131	0	0	0	1	0	4	131				
CXorf22	170063	broad.mit.edu	37	X	35989875	35989875	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chrX:35989875T>A	ENST00000297866.5	+	12	2209	c.2143T>A	c.(2143-2145)Tct>Act	p.S715T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	715										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGAGGAAGAGTCTGTGAGAAG	0.383																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2143-2145)Tct>Act		chromosome X open reading frame 22							56.0	51.0	53.0					X																	35989875		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989875T>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2143T>A	X.37:g.35989875T>A	ENSP00000297866:p.Ser715Thr						p.S715T	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2209	+			715					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2143T>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	3.023	-0.201409	0.06219	.	.	ENSG00000165164	ENST00000297866	T	0.14516	2.5	5.84	0.46	0.16684	.	0.238971	0.43416	D	0.000575	T	0.10680	0.0261	L	0.42245	1.32	0.09310	N	1	B	0.28419	0.211	B	0.31442	0.13	T	0.38067	-0.9678	10	0.06625	T	0.88	-18.8154	12.9555	0.58425	0.0:0.0:0.6128:0.3872	.	715	Q6ZTR5	CX022_HUMAN	T	715	ENSP00000297866:S715T	ENSP00000297866:S715T	S	+	1	0	CXorf22	35899796	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	1.018000	0.30002	-0.271000	0.09272	0.486000	0.48141	TCT		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		18	27	0	0	0	1	0	18	27				
VEZT	55591	broad.mit.edu	37	12	95660174	95660174	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr12:95660174T>G	ENST00000436874.1	+	5	581	c.476T>G	c.(475-477)aTg>aGg	p.M159R	VEZT_ENST00000261219.6_Missense_Mutation_p.M111R|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	159					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTGCTCGTTATGCTTCCCACT	0.408																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(475-477)aTg>aGg		vezatin, adherens junctions transmembrane protein							303.0	289.0	293.0					12																	95660174		1906	4135	6041	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660174T>G	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.476T>G	12.37:g.95660174T>G	ENSP00000410083:p.Met159Arg					VEZT_ENST00000261219.6_Missense_Mutation_p.M111R|VEZT_ENST00000356859.4_3'UTR	p.M159R	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			5	581	+			159					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.476T>G	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455531	0.43634	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.47869	1.07;0.91;1.07;0.83;0.87;1.07	5.39	5.39	0.77823	.	0.193646	0.64402	D	0.000020	T	0.54224	0.1845	L	0.54323	1.7	0.41378	D	0.987536	D;P;P;P	0.55800	0.973;0.873;0.547;0.602	P;P;B;B	0.54590	0.756;0.5;0.26;0.378	T	0.57242	-0.7845	10	0.52906	T	0.07	-17.0707	9.8707	0.41172	0.0:0.0764:0.0:0.9236	.	159;159;111;111	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	R	159;129;111;178;150;81;111;159	ENSP00000410083:M159R;ENSP00000449591:M129R;ENSP00000261219:M111R;ENSP00000449701:M178R;ENSP00000447151:M81R;ENSP00000380894:M111R	ENSP00000261219:M111R	M	+	2	0	VEZT	94184305	1.000000	0.71417	0.981000	0.43875	0.039000	0.13416	3.477000	0.53151	2.023000	0.59567	0.528000	0.53228	ATG		0.408	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		96	106	0	0	0	1	0	96	106				
OR2Y1	134083	broad.mit.edu	37	5	180166493	180166493	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:180166493G>A	ENST00000307832.2	-	1	606	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTGTCCGCACAAGCCAA	0.507																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(565-567)gCg>gTg		olfactory receptor, family 2, subfamily Y, member 1							82.0	70.0	74.0					5																	180166493		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166493G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.566C>T	5.37:g.180166493G>A	ENSP00000312403:p.Ala189Val						p.A189V	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	606	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	189					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.566C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	0.125	-1.120816	0.01785	.	.	ENSG00000174339	ENST00000307832	T	0.00137	8.68	4.41	-8.81	0.00813	GPCR, rhodopsin-like superfamily (1);	2.447600	0.01860	N	0.036546	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45891	-0.9230	10	0.02654	T	1	.	1.5139	0.02502	0.3935:0.1488:0.3068:0.1509	.	189	Q8NGV0	OR2Y1_HUMAN	V	189	ENSP00000312403:A189V	ENSP00000312403:A189V	A	-	2	0	OR2Y1	180099099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.715000	0.01389	-1.294000	0.01345	GCG		0.507	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		4	58	0	0	0	1	0	4	58				
POTEG	404785	broad.mit.edu	37	14	19553785	19553785	+	Silent	SNP	C	C	T	rs377102807		TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr14:19553785C>T	ENST00000409832.3	+	1	421	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	123										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGAGACTACGACGACAGCG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		63003	0.0		0.001	False		,,,				2504	0.0					ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(367-369)taC>taT		POTE ankyrin domain family, member G		C		1,4401		0,1,2200	335.0	369.0	358.0		369	-1.6	0.0	14		358	0,8594		0,0,4297	no	coding-synonymous	POTEG	NM_001005356.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		123/509	19553785	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	404785							g.chr14:19553785C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.369C>T	14.37:g.19553785C>T							p.Y123Y	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	421	+			123					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.369C>T	CCDS32018.1																																																																																				0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		5	576	0	0	0	1	0	5	576				
MXD3	83463	broad.mit.edu	37	5	176737513	176737513	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:176737513G>A	ENST00000439742.2	-	4	713	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	MXD3_ENST00000427908.2_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W|MXD3_ENST00000513063.1_Missense_Mutation_p.R79W	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	79	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTCAGCCGCTCCAGGCAC	0.692																																						ENST00000427908.2																			0											c.(235-237)Cgg>Tgg		MAX dimerization protein 3							22.0	27.0	25.0					5																	176737513		2202	4299	6501	SO:0001583	missense	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176737513G>A	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.235C>T	5.37:g.176737513G>A	ENSP00000401867:p.Arg79Trp					MXD3_ENST00000513063.1_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W|MXD3_ENST00000439742.2_Missense_Mutation_p.R79W	p.R79W	NM_001142935.1	NP_001136407.1	Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	302	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	79			Helix-loop-helix motif.		B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	ENST00000439742.2	37	c.235C>T	CCDS4416.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559404	0.86335	.	.	ENSG00000213347	ENST00000427908;ENST00000423571;ENST00000439742;ENST00000303165;ENST00000513063;ENST00000502529	D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71	4.75	3.88	0.44766	Helix-loop-helix DNA-binding (5);	0.124595	0.56097	D	0.000035	D	0.97685	0.9241	L	0.39245	1.2	0.36578	D	0.873389	D;D;D;D	0.89917	0.999;0.987;0.99;1.0	D;P;P;D	0.77557	0.941;0.528;0.636;0.99	D	0.99952	1.1558	10	0.87932	D	0	-6.4933	14.781	0.69766	0.0:0.1452:0.8548:0.0	.	79;70;79;79	Q9BW11-3;F8W9D2;Q9BW11;B4E0J1	.;.;MAD3_HUMAN;.	W	79;79;79;70;79;69	ENSP00000416921:R79W;ENSP00000389716:R79W;ENSP00000401867:R79W;ENSP00000421463:R79W;ENSP00000425029:R69W	ENSP00000307720:R70W	R	-	1	2	MXD3	176670119	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.548000	0.60718	1.207000	0.43291	0.561000	0.74099	CGG		0.692	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			5	9	0	0	0	1	0	5	9				
ALK	238	broad.mit.edu	37	2	29551323	29551323	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr2:29551323G>A	ENST00000389048.3	-	6	2213	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	436					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A436V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTCTGCAGGGCCATCTTGGA	0.592			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	1	Substitution - Missense(1)	p.A436V(1)	large_intestine(1)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1306-1308)gCc>gTc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						78.0	70.0	73.0					2																	29551323		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29551323G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1307C>T	2.37:g.29551323G>A	ENSP00000373700:p.Ala436Val					ALK_ENST00000431873.1_Intron	p.A436V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			6	2213	-	Acute lymphoblastic leukemia(172;0.155)		436					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1307C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.267837	0.80469	.	.	ENSG00000171094	ENST00000389048	T	0.77620	-1.11	5.2	5.2	0.72013	.	0.000000	0.47455	U	0.000222	T	0.62539	0.2436	N	0.24115	0.695	0.80722	D	1	B	0.32071	0.355	B	0.23419	0.046	T	0.61242	-0.7102	9	.	.	.	.	14.2651	0.66113	0.0:0.0:1.0:0.0	.	436	Q9UM73	ALK_HUMAN	V	436	ENSP00000373700:A436V	.	A	-	2	0	ALK	29404827	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.300000	0.59079	2.445000	0.82738	0.394000	0.25966	GCC		0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	31	0	0	0	1	0	3	31				
YEATS2	55689	broad.mit.edu	37	3	183504057	183504057	+	Missense_Mutation	SNP	G	G	A	rs187815385		TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr3:183504057G>A	ENST00000305135.5	+	20	3076	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	961					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCCCCTGCCGTGGCCCTCTC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18407	0.001		0.0	False		,,,				2504	0.0					ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2881-2883)Gtg>Atg		YEATS domain containing 2		G	MET/VAL	2,4018		0,2,2008	68.0	69.0	69.0		2881	2.1	0.2	3		69	0,8356		0,0,4178	no	missense	YEATS2	NM_018023.4	21	0,2,6186	AA,AG,GG		0.0,0.0498,0.0162	probably-damaging	961/1423	183504057	2,12374	2010	4178	6188	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183504057G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2881G>A	3.37:g.183504057G>A	ENSP00000306983:p.Val961Met						p.V961M	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	3076	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		961					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2881G>A	CCDS43175.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	12.18|12.18	1.860188|1.860188	0.32884|0.32884	4.98E-4|4.98E-4	0.0|0.0	ENSG00000163872|ENSG00000163872	ENST00000432781|ENST00000421660;ENST00000305135	.|T	.|0.22134	.|1.97	5.88|5.88	2.08|2.08	0.27032|0.27032	.|.	.|0.406531	.|0.24708	.|N	.|0.036257	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22003	.|0.063;0.017	.|B;B	.|0.15870	.|0.014;0.003	T|T	0.19418|0.19418	-1.0306|-1.0306	5|10	.|0.48119	.|T	.|0.1	-2.9561|-2.9561	6.108|6.108	0.20084|0.20084	0.2055:0.2512:0.5433:0.0|0.2055:0.2512:0.5433:0.0	.|.	.|123;961	.|Q8N5H6;Q9ULM3	.|.;YETS2_HUMAN	H|M	146|961	.|ENSP00000306983:V961M	.|ENSP00000306983:V961M	R|V	+|+	2|1	0|0	YEATS2|YEATS2	184986751|184986751	0.501000|0.501000	0.26099|0.26099	0.205000|0.205000	0.23548|0.23548	0.955000|0.955000	0.61496|0.61496	0.697000|0.697000	0.25556|0.25556	0.102000|0.102000	0.17638|0.17638	-0.136000|-0.136000	0.14681|0.14681	CGT|GTG		0.517	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		3	31	0	0	0	1	0	3	31				
DENND5A	23258	broad.mit.edu	37	11	9225671	9225671	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr11:9225671T>C	ENST00000328194.3	-	4	805	c.485A>G	c.(484-486)gAt>gGt	p.D162G	DENND5A_ENST00000530044.1_Missense_Mutation_p.D162G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	162					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTAGGACATCATACTCAGC	0.507																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(484-486)gAt>gGt		DENN/MADD domain containing 5A							185.0	140.0	155.0					11																	9225671		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225671T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.485A>G	11.37:g.9225671T>C	ENSP00000328524:p.Asp162Gly					DENND5A_ENST00000530044.1_Missense_Mutation_p.D162G	p.D162G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	805	-			162					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.485A>G	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258085	0.39896	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.03951	3.75;3.75	5.54	5.54	0.83059	.	0.097853	0.64402	D	0.000001	T	0.08179	0.0204	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12837	-1.0532	10	0.29301	T	0.29	.	15.6969	0.77506	0.0:0.0:0.0:1.0	.	162;162	E9PS91;Q6IQ26	.;DEN5A_HUMAN	G	162	ENSP00000328524:D162G;ENSP00000435866:D162G	ENSP00000328524:D162G	D	-	2	0	DENND5A	9182247	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.168000	0.64978	2.108000	0.64289	0.533000	0.62120	GAT		0.507	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		3	25	0	0	0	1	0	3	25				
C14orf28	122525	broad.mit.edu	37	14	45369991	45369991	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr14:45369991A>G	ENST00000325192.3	+	2	628	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.Y118C|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	118										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAACAGCAATACAAATCTGAA	0.323																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(352-354)tAc>tGc		chromosome 14 open reading frame 28							40.0	43.0	42.0					14																	45369991		2203	4300	6503	SO:0001583	missense	122525							g.chr14:45369991A>G	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.353A>G	14.37:g.45369991A>G	ENSP00000326846:p.Tyr118Cys					C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.Y118C|RP11-857B24.5_ENST00000555157.1_RNA	p.Y118C	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			2	628	+			118						Missense_Mutation	SNP	ENST00000325192.3	37	c.353A>G	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548864	0.45383	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.32753	1.44;1.44	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41395	-0.9511	10	0.87932	D	0	.	14.5065	0.67755	1.0:0.0:0.0:0.0	.	118	Q4W4Y0	CN028_HUMAN	C	118	ENSP00000326846:Y118C;ENSP00000451791:Y118C	ENSP00000326846:Y118C	Y	+	2	0	C14orf28	44439741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.697000	0.84279	2.367000	0.80283	0.528000	0.53228	TAC		0.323	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		3	40	0	0	0	1	0	3	40				
OR4F6	390648	broad.mit.edu	37	15	102346304	102346304	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr15:102346304A>T	ENST00000328882.4	+	1	403	c.382A>T	c.(382-384)Aag>Tag	p.K128*		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGCCATATGTAAGCCTCTCCA	0.448																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(382-384)Aag>Tag		olfactory receptor, family 4, subfamily F, member 6							255.0	226.0	236.0					15																	102346304		2203	4300	6503	SO:0001587	stop_gained	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346304A>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.382A>T	15.37:g.102346304A>T	ENSP00000327525:p.Lys128*						p.K128*	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	403	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		128					B9EH28|Q6IF95	Nonsense_Mutation	SNP	ENST00000328882.4	37	c.382A>T	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	26.3	4.724148	0.89298	.	.	ENSG00000184140	ENST00000328882	.	.	.	4.78	4.78	0.61160	.	0.137951	0.32055	N	0.006647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2347	0.26064	0.9018:0.0:0.0982:0.0	.	.	.	.	X	128	.	ENSP00000327525:K128X	K	+	1	0	OR4F6	100163827	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	0.011000	0.13264	2.139000	0.66308	0.482000	0.46254	AAG		0.448	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			51	138	0	0	0	1	0	51	138				
PC	5091	broad.mit.edu	37	11	66638898	66638898	+	Silent	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr11:66638898C>T	ENST00000393958.2	-	5	468	c.375G>A	c.(373-375)gcG>gcA	p.A125A	PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000393955.2_Silent_p.A125A|PC_ENST00000355677.3_Silent_p.A125A|PC_ENST00000393960.1_Silent_p.A125A	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	125	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGCGAAGTCCGCTCGCTCAG	0.632																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(373-375)gcG>gcA		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						88.0	94.0	92.0					11																	66638898		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638898C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.375G>A	11.37:g.66638898C>T						PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000393958.2_Silent_p.A125A|PC_ENST00000355677.3_Silent_p.A125A|PC_ENST00000393955.2_Silent_p.A125A	p.A125A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	6	656	-		Melanoma(852;0.0525)	125			Biotin carboxylation.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.375G>A	CCDS8152.1																																																																																				0.632	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		17	72	0	0	0	1	0	17	72				
DNASE2B	58511	broad.mit.edu	37	1	84878060	84878060	+	Silent	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr1:84878060C>T	ENST00000370665.3	+	5	609	c.576C>T	c.(574-576)aaC>aaT	p.N192N	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	192					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCAACCCCAACGTCTATAGCT	0.478																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(574-576)aaC>aaT		deoxyribonuclease II beta							81.0	82.0	82.0					1																	84878060		2203	4300	6503	SO:0001819	synonymous_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84878060C>T	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.576C>T	1.37:g.84878060C>T						DNASE2B_ENST00000370662.3_5'UTR	p.N192N	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	5	609	+			192					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	c.576C>T	CCDS44167.1																																																																																				0.478	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		15	34	0	0	0	1	0	15	34				
PCDHB4	56131	broad.mit.edu	37	5	140501812	140501812	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:140501812C>T	ENST00000194152.1	+	1	232	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCTGGATCGTCAGACTGG	0.552																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(232-234)Cgt>Tgt									62.0	65.0	64.0					5																	140501812		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501812C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.232C>T	5.37:g.140501812C>T	ENSP00000194152:p.Arg78Cys						p.R78C	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	232	+			78			Cadherin 1.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.232C>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	9.635	1.137437	0.21123	.	.	ENSG00000081818	ENST00000194152	T	0.39229	1.09	4.66	0.684	0.18003	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.39759	0.1090	M	0.64997	1.995	0.09310	N	1	P	0.41643	0.758	B	0.40825	0.341	T	0.19451	-1.0305	9	0.41790	T	0.15	.	9.5148	0.39098	0.0:0.2952:0.5555:0.1492	.	78	Q9Y5E5	PCDB4_HUMAN	C	78	ENSP00000194152:R78C	ENSP00000194152:R78C	R	+	1	0	PCDHB4	140481996	0.000000	0.05858	0.084000	0.20598	0.952000	0.60782	-2.812000	0.00754	0.004000	0.14682	-0.150000	0.13652	CGT		0.552	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		19	26	0	0	0	1	0	19	26				
TRDN	10345	broad.mit.edu	37	6	123786033	123786033	+	Intron	DEL	A	A	-	rs201431159		TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr6:123786033delA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|TRDN_ENST00000546248.1_Frame_Shift_Del_p.S297fs|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)ctfs		triadin							47.0	48.0	48.0					6																	123786033		1889	4111	6000	SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786033delA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17T>-	6.37:g.123786033delA						RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA	p.S297fs	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022	-			0					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	ENST00000398178.3	37	c.889delT	CCDS55053.1																																																																																				0.388	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99220451	99220451	+	Splice_Site	DEL	C	C	-			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr10:99220451delC	ENST00000438925.2	-	25	2805		c.e25+1		MMS19_ENST00000327238.10_Splice_Site|MMS19_ENST00000370782.2_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000355839.6_Splice_Site	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)						cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAAGGACGTACCCGGGCTGTA	0.493								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.e25+1	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							71.0	67.0	68.0					10																	99220451		2202	4300	6502	SO:0001630	splice_region_variant	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99220451delC	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2469+1G>-	10.37:g.99220451delC						MMS19_ENST00000355839.6_Splice_Site|MMS19_ENST00000370782.2_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000327238.10_Splice_Site		NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	25	2805	-		Colorectal(252;0.0846)						B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Splice_Site	DEL	ENST00000438925.2	37		CCDS7464.1																																																																																				0.493	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2		Intron	2	4						2	4	---	---	---	---
TESPA1	9840	broad.mit.edu	37	12	55359857	55359857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr12:55359857delC	ENST00000449076.1	-	7	558	c.426delG	c.(424-426)gggfs	p.G142fs	TESPA1_ENST00000532804.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000524959.1_Intron|TESPA1_ENST00000524622.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.G142fs	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	142					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCTTGTTGGTCCCCCCAGTCA	0.512																																						ENST00000524622.1																			0											c.(10-12)ggfs		thymocyte expressed, positive selection associated 1							64.0	63.0	63.0					12																	55359857		1941	4148	6089	SO:0001589	frameshift_variant	9840							g.chr12:55359857delC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.426delG	12.37:g.55359857delC	ENSP00000400892:p.Gly142fs					TESPA1_ENST00000449076.1_Frame_Shift_Del_p.G142fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.G142fs|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000532804.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000524959.1_Intron	p.G4fs	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			5	673	-			142					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Frame_Shift_Del	DEL	ENST00000449076.1	37	c.12delG	CCDS44913.1																																																																																				0.512	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		2	4						2	4	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-	rs369631764		TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_ENST00000399804.1_In_Frame_Del_p.Q944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.Q951del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2896-2901)cca>c		SR-related CTD-associated factor 4																																				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044257_33044259delGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899delAGC	21.37:g.33044266_33044268delGCT	ENSP00000286835:p.Gln966del					SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del	p.QP966del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3279_3281	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.2897_2899delAGC	CCDS33537.1																																																																																				0.581	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		8	107						8	107	---	---	---	---
