#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AMPD2	271	broad.mit.edu	37	1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:110171852G>C	ENST00000256578.3	+	13	2215	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	619					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTCTTCTTAGAGCACGTGAG	0.607																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1855-1857)Gag>Cag		adenosine monophosphate deaminase 2							65.0	66.0	66.0					1																	110171852		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171852G>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1855G>C	1.37:g.110171852G>C	ENSP00000256578:p.Glu619Gln		Somatic				AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q	p.E619Q	NM_004037.7	NP_004028.3	WXS	Illumina GAIIx	Phase_I	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2215	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	619					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1855G>C	CCDS805.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	4.695|4.695|4.695	0.129264|0.129264|0.129264	0.08981|0.08981|0.08981	.|.|.	.|.|.	ENSG00000116337|ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840|ENST00000476688	D;D;D;D;D;D|.|.	0.81996|.|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.|.	4.86|4.86|4.86	2.97|2.97|2.97	0.34412|0.34412|0.34412	Adenosine/AMP deaminase (1);|.|.	0.222920|.|.	0.44483|.|.	N|.|.	0.000454|.|.	T|T|.	0.04588|0.04588|.	0.0125|0.0125|.	N|N|N	0.00453|0.00453|0.00453	-1.485|-1.485|-1.485	0.36996|0.36996|0.36996	D|D|D	0.895043|0.895043|0.895043	B;B;B;B|.|.	0.16603|.|.	0.018;0.001;0.003;0.001|.|.	B;B;B;B|.|.	0.16722|.|.	0.016;0.004;0.01;0.006|.|.	T|T|.	0.27502|0.27502|.	-1.0072|-1.0072|.	10|5|.	0.02654|.|.	T|.|.	1|.|.	-23.7547|-23.7547|-23.7547	9.7791|9.7791|9.7791	0.40637|0.40637|0.40637	0.0776:0.1414:0.781:0.0|0.0776:0.1414:0.781:0.0|0.0776:0.1414:0.781:0.0	.|.|.	544;500;619;538|.|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.|.	.;.;AMPD2_HUMAN;.|.|.	Q|T|Y	538;619;619;544;501;500|589|7	ENSP00000345498:E538Q;ENSP00000436541:E619Q;ENSP00000256578:E619Q;ENSP00000351573:E544Q;ENSP00000437164:E501Q;ENSP00000377292:E500Q|.|.	ENSP00000256578:E619Q|.|.	E|R|X	+|+|+	1|2|3	0|0|2	AMPD2|AMPD2|AMPD2	109973375|109973375|109973375	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.079000|0.079000|0.079000	0.17450|0.17450|0.17450	1.368000|1.368000|1.368000	0.34216|0.34216|0.34216	0.633000|0.633000|0.633000	0.30452|0.30452|0.30452	-0.176000|-0.176000|-0.176000	0.13171|0.13171|0.13171	GAG|AGA|TAG		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			3	62	3	62	---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:223986246G>A	ENST00000343537.7	-	12	1910	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S411L|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	534					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AACAACTGTTGACAACTGCTG	0.478																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1231-1233)tCa>tTa		tumor protein p53 binding protein, 2							115.0	119.0	118.0					1																	223986246		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986246G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1619C>T	1.37:g.223986246G>A	ENSP00000341957:p.Ser540Leu		Somatic				TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L	p.S411L	NM_005426.2	NP_005417.1	WXS	Illumina GAIIx	Phase_I	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2000	-			534					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1232C>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549677	0.45383	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.48201	0.82;0.99	5.88	5.88	0.94601	.	0.226122	0.45361	D	0.000365	T	0.40372	0.1114	N	0.22421	0.69	0.80722	D	1	B;B	0.20671	0.047;0.003	B;B	0.19148	0.024;0.007	T	0.19844	-1.0293	10	0.66056	D	0.02	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	540;534	B4DG66;Q13625	.;ASPP2_HUMAN	L	411;540	ENSP00000375750:S411L;ENSP00000341957:S540L	ENSP00000341957:S540L	S	-	2	0	TP53BP2	222052869	0.996000	0.38824	0.847000	0.33407	0.135000	0.20990	6.764000	0.74960	2.782000	0.95742	0.655000	0.94253	TCA		0.478	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		4	108	4	108	---	---	---	---
NMS	129521	broad.mit.edu	37	2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:101087006T>C	ENST00000376865.1	+	1	63	c.56T>C	c.(55-57)aTg>aCg	p.M19T		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	19					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTTCTGCATGCTACAGATT	0.537																																						ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(55-57)aTg>aCg		neuromedin S							340.0	293.0	309.0					2																	101087006		2203	4300	6503	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101087006T>C	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.56T>C	2.37:g.101087006T>C	ENSP00000366061:p.Met19Thr		Somatic					p.M19T	NM_001011717.1	NP_001011717.1	WXS	Illumina GAIIx	Phase_I	Q5H8A3	NMS_HUMAN			1	63	+			19						Missense_Mutation	SNP	ENST00000376865.1	37	c.56T>C	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	T	2.473	-0.321513	0.05386	.	.	ENSG00000204640	ENST00000376865	T	0.48201	0.82	4.32	-1.35	0.09114	.	1.237840	0.05634	N	0.582224	T	0.33556	0.0867	L	0.38175	1.15	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.17379	-1.0371	10	0.18276	T	0.48	0.0017	6.2987	0.21101	0.0:0.0972:0.5115:0.3913	.	19	Q5H8A3	NMS_HUMAN	T	19	ENSP00000366061:M19T	ENSP00000366061:M19T	M	+	2	0	NMS	100453438	0.000000	0.05858	0.005000	0.12908	0.872000	0.50106	0.175000	0.16762	-0.297000	0.08934	0.528000	0.53228	ATG		0.537	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		12	145	12	145	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230456358	230456358	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:230456358G>T	ENST00000341772.4	-	2	657	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	175					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTAGGCAGTGTCACCGTT	0.502																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(523-525)Ctg>Atg		delta/notch-like EGF repeat containing							86.0	79.0	82.0					2																	230456358		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456358G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.523C>A	2.37:g.230456358G>T	ENSP00000345229:p.Leu175Met		Somatic					p.L175M	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	657	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	175					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.523C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888888	0.33348	.	.	ENSG00000187957	ENST00000341772	D	0.89617	-2.54	5.75	3.0	0.34707	.	0.069618	0.64402	N	0.000013	D	0.89591	0.6759	L	0.27053	0.805	0.46542	D	0.999095	D	0.76494	0.999	D	0.85130	0.997	D	0.86553	0.1836	10	0.31617	T	0.26	.	13.9259	0.63961	0.1925:0.0:0.8075:0.0	.	175	Q8NFT8	DNER_HUMAN	M	175	ENSP00000345229:L175M	ENSP00000345229:L175M	L	-	1	2	DNER	230164602	0.983000	0.35010	0.372000	0.25991	0.102000	0.19082	1.822000	0.39052	0.358000	0.24211	-0.940000	0.02684	CTG		0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		3	80	3	80	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr3:100348538G>T	ENST00000273352.3	+	2	480	c.212G>T	c.(211-213)gGa>gTa	p.G71V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	71					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(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(211-213)gGa>gTa		G protein-coupled receptor 128							128.0	133.0	132.0					3																	100348538		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100348538G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.212G>T	3.37:g.100348538G>T	ENSP00000273352:p.Gly71Val		Somatic					p.G71V	NM_032787.2	NP_116176.2	WXS	Illumina GAIIx	Phase_I	Q96K78	GP128_HUMAN			2	480	+			71					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.212G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788271	0.70337	.	.	ENSG00000144820	ENST00000273352	T	0.72835	-0.69	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000100	D	0.82472	0.5044	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83883	0.0280	10	0.72032	D	0.01	.	13.9068	0.63841	0.0:0.0:1.0:0.0	.	71	Q96K78	GP128_HUMAN	V	71	ENSP00000273352:G71V	ENSP00000273352:G71V	G	+	2	0	GPR128	101831228	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	4.049000	0.57397	2.664000	0.90586	0.655000	0.94253	GGA		0.388	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	105	4	105	---	---	---	---
LYAR	55646	broad.mit.edu	37	4	4281393	4281393	+	Silent	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:4281393A>T	ENST00000343470.4	-	5	561	c.321T>A	c.(319-321)gtT>gtA	p.V107V	LYAR_ENST00000452476.1_Silent_p.V107V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	107						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTGGGAACGTTGTCAA	0.418																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(319-321)gtT>gtA		Ly1 antibody reactive							62.0	67.0	65.0					4																	4281393		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4281393A>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.321T>A	4.37:g.4281393A>T			Somatic				LYAR_ENST00000452476.1_Silent_p.V107V	p.V107V	NM_017816.2	NP_060286	WXS	Illumina GAIIx	Phase_I	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	561	-			107					D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.321T>A	CCDS3374.1																																																																																				0.418	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		11	45	11	45	---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6302431	6302431	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:6302431G>A	ENST00000226760.1	+	8	1079	c.909G>A	c.(907-909)ctG>ctA	p.L303L	WFS1_ENST00000503569.1_Silent_p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	303					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGAGTACCTGATTGACATGG	0.582																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(907-909)ctG>ctA		Wolfram syndrome 1 (wolframin)							236.0	182.0	200.0					4																	6302431		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302431G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.909G>A	4.37:g.6302431G>A			Somatic				WFS1_ENST00000503569.1_Silent_p.L303L	p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	WXS	Illumina GAIIx	Phase_I	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1079	+			303					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.909G>A	CCDS3386.1																																																																																				0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			23	48	23	48	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:115997743T>G	ENST00000264363.2	-	2	1128	c.450A>C	c.(448-450)ttA>ttC	p.L150F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	150	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATTTTTCTAAAAGCTCTC	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(448-450)ttA>ttC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							58.0	63.0	61.0					4																	115997743		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997743T>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.450A>C	4.37:g.115997743T>G	ENSP00000264363:p.Leu150Phe		Somatic					p.L150F	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1128	-		Ovarian(17;0.156)	150			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.450A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157746	0.57368	.	.	ENSG00000138653	ENST00000264363	T	0.57595	0.39	5.04	-4.13	0.03904	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.87328	2.875	0.50813	D	0.999899	P	0.40000	0.698	P	0.48524	0.58	T	0.71520	-0.4568	10	0.59425	D	0.04	.	16.2473	0.82450	0.0:0.7226:0.0:0.2774	.	150	Q9H3R1	NDST4_HUMAN	F	150	ENSP00000264363:L150F	ENSP00000264363:L150F	L	-	3	2	NDST4	116217192	0.867000	0.29959	0.946000	0.38457	0.992000	0.81027	0.025000	0.13577	-0.948000	0.03668	-0.347000	0.07816	TTA		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		5	74	5	74	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:138449742T>A	ENST00000344876.4	-	3	3016	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	877					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCCTCACTGTCACCACGGCC	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2629-2631)gAc>gTc		protocadherin 18							206.0	222.0	217.0					4																	138449742		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449742T>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2630A>T	4.37:g.138449742T>A	ENSP00000355082:p.Asp877Val		Somatic				PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V	p.D877V	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	Q9HCL0	PCD18_HUMAN			3	3016	-	all_hematologic(180;0.24)		877					A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2630A>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729456	0.89390	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.64438	-0.02;-0.0;-0.1;0.77;0.76	5.56	5.56	0.83823	.	0.000000	0.45126	D	0.000394	T	0.76772	0.4034	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.69078	0.997;0.988;0.997;0.988	D;P;D;P	0.67900	0.911;0.676;0.954;0.676	T	0.79659	-0.1711	10	0.87932	D	0	.	15.7229	0.77728	0.0:0.0:0.0:1.0	.	57;656;876;877	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	V	877;876;656;88;57	ENSP00000355082:D877V;ENSP00000390688:D876V;ENSP00000425903:D656V;ENSP00000424269:D88V;ENSP00000425647:D57V	ENSP00000355082:D877V	D	-	2	0	PCDH18	138669192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.108000	0.64289	0.533000	0.62120	GAC		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		79	288	79	288	---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:96245318A>T	ENST00000437043.3	+	15	2915	c.2204A>T	c.(2203-2205)gAc>gTc	p.D735V	ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	735					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)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CCAGTGATTGACAGGCAAAGC	0.488																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(2203-2205)gAc>gTc		endoplasmic reticulum aminopeptidase 2							118.0	112.0	114.0					5																	96245318		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96245318A>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2204A>T	5.37:g.96245318A>T	ENSP00000400376:p.Asp735Val		Somatic				ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	p.D735V	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	WXS	Illumina GAIIx	Phase_I	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	15	2915	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	735					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.2204A>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070201	0.76301	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.05996	3.36;3.36	4.56	4.56	0.56223	.	0.074136	0.52532	D	0.000076	T	0.17365	0.0417	M	0.64170	1.965	0.80722	D	1	D;P	0.53745	0.962;0.799	P;P	0.57283	0.817;0.771	T	0.00316	-1.1823	10	0.56958	D	0.05	.	13.2962	0.60298	1.0:0.0:0.0:0.0	.	690;735	Q6P179-3;Q6P179	.;ERAP2_HUMAN	V	735;690	ENSP00000400376:D735V;ENSP00000369235:D690V	ENSP00000369235:D690V	D	+	2	0	ERAP2	96271074	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	7.490000	0.81461	2.046000	0.60703	0.460000	0.39030	GAC		0.488	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		6	82	6	82	---	---	---	---
TRIM36	55521	broad.mit.edu	37	5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:114466299C>T	ENST00000282369.3	-	9	1943	c.1822G>A	c.(1822-1824)Gtt>Att	p.V608I	TRIM36_ENST00000513154.1_Missense_Mutation_p.V596I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	608	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A607fs*27(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGGACTAACTGCATCCCGG	0.393																																						ENST00000513154.1																			2	Deletion - Frameshift(2)	p.A607fs*27(2)	breast(2)	breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1786-1788)Gtt>Att		tripartite motif containing 36							88.0	89.0	88.0					5																	114466299		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466299C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1822G>A	5.37:g.114466299C>T	ENSP00000282369:p.Val608Ile		Somatic				TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I	p.V596I			WXS	Illumina GAIIx	Phase_I	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	2112	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	608			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1786G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015880	0.19355	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60171	0.21;0.21;0.21	5.55	2.43	0.29744	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.380665	0.32386	N	0.006176	T	0.28333	0.0700	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.07404	-1.0774	10	0.25751	T	0.34	.	2.1223	0.03729	0.2411:0.3989:0.0:0.36	.	596;608	E9PFI8;Q9NQ86	.;TRI36_HUMAN	I	608;596;453	ENSP00000282369:V608I;ENSP00000423934:V596I;ENSP00000424259:V453I	ENSP00000282369:V608I	V	-	1	0	TRIM36	114494198	0.998000	0.40836	0.993000	0.49108	0.966000	0.64601	4.570000	0.60872	1.332000	0.45431	-0.251000	0.11542	GTT		0.393	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		22	81	22	81	---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:122926136A>G	ENST00000361991.2	+	8	904	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTATGTAAGAAGGCTAGATTT	0.259																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(874-876)Agg>Ggg		casein kinase 1, gamma 3							58.0	64.0	62.0					5																	122926136		2201	4284	6485	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122926136A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.874A>G	5.37:g.122926136A>G	ENSP00000354942:p.Arg292Gly		Somatic				CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G	p.R292G			WXS	Illumina GAIIx	Phase_I	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	9	1593	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	292			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.874A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584716	0.65992	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.08670	0.0215	N	0.11870	0.19	0.54753	D	0.999984	B;P;B;P;P;P	0.49253	0.018;0.921;0.018;0.556;0.921;0.556	B;P;B;P;P;P	0.56612	0.043;0.802;0.043;0.584;0.802;0.584	T	0.52426	-0.8577	10	0.19590	T	0.45	.	15.0453	0.71822	1.0:0.0:0.0:0.0	.	217;293;180;292;292;292	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	G	292;292;292;180;217;292;293;292;292	ENSP00000378807:R292G;ENSP00000378806:R292G;ENSP00000334735:R292G;ENSP00000421385:R180G;ENSP00000421998:R217G;ENSP00000429412:R292G;ENSP00000423838:R293G;ENSP00000354942:R292G;ENSP00000353904:R292G	ENSP00000334735:R292G	R	+	1	2	CSNK1G3	122954035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.581000	0.36558	2.181000	0.69327	0.533000	0.62120	AGG		0.259	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		3	69	3	69	---	---	---	---
PAIP2	51247	broad.mit.edu	37	5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:138700332G>T	ENST00000394795.2	+	3	1209	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	73	PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCATGAATGGTTTATTCCA	0.388																																						ENST00000394795.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(217-219)tGg>tTg		poly(A) binding protein interacting protein 2							112.0	100.0	104.0					5																	138700332		2203	4300	6503	SO:0001583	missense	51247				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	g.chr5:138700332G>T	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.218G>T	5.37:g.138700332G>T	ENSP00000378275:p.Trp73Leu		Somatic				PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L	p.W73L			WXS	Illumina GAIIx	Phase_I	Q9BPZ3	PAIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	1209	+			73			PABPC1-interacting motif-1 (PAM1).		B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	c.218G>T	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722402	0.89298	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	M	0.65975	2.015	0.51767	D	0.999934	D	0.57571	0.98	P	0.59424	0.857	T	0.76421	-0.2965	9	0.56958	D	0.05	.	14.3689	0.66826	0.0714:0.0:0.9285:0.0	.	73	Q9BPZ3	PAIP2_HUMAN	L	73	.	ENSP00000265192:W73L	W	+	2	0	PAIP2	138728231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.408000	0.90221	1.449000	0.47699	0.655000	0.94253	TGG		0.388	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		3	56	3	56	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475283	140475283	+	Silent	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:140475283G>T	ENST00000194155.4	+	1	1057	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	303	Cadherin 3. {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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGAACTGCTTTTAAGAC	0.398																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(907-909)ctG>ctT									85.0	88.0	87.0					5																	140475283		2203	4300	6503	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475283G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.909G>T	5.37:g.140475283G>T			Somatic					p.L303L	NM_018936.2	NP_061759.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1057	+			303			Cadherin 3.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.909G>T	CCDS4244.1																																																																																				0.398	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		25	51	25	51	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:153795366G>C	ENST00000297107.6	+	11	1664	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	509	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTGGAGAGAGGACATCCGGC	0.488																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1525-1527)gaG>gaC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							119.0	118.0	118.0					5																	153795366		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795366G>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1527G>C	5.37:g.153795366G>C	ENSP00000297107:p.Glu509Asp		Somatic				GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	p.E509D	NM_198321.3	NP_938080.1	WXS	Illumina GAIIx	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1664	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	509			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1527G>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854922	0.71719	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27256	1.68;1.68;1.68	5.6	1.29	0.21616	Ricin B-related lectin (1);Ricin B lectin (3);	0.362716	0.32488	N	0.006029	T	0.39759	0.1090	L	0.56769	1.78	0.41376	D	0.987526	D;B;P	0.71674	0.998;0.175;0.497	D;B;B	0.85130	0.997;0.224;0.256	T	0.09378	-1.0677	10	0.30854	T	0.27	.	8.3438	0.32261	0.5506:0.0:0.4494:0.0	.	447;180;509	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	D	509;447;182	ENSP00000297107:E509D;ENSP00000366889:E447D;ENSP00000366885:E182D	ENSP00000297107:E509D	E	+	3	2	GALNT10	153775559	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.393000	0.20817	0.322000	0.23283	-0.140000	0.14226	GAG		0.488	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		48	150	48	150	---	---	---	---
FOXQ1	94234	broad.mit.edu	37	6	1313422	1313422	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:1313422G>A	ENST00000296839.2	+	1	748	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	161					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAGCTACACGGGCTGGCGCA	0.652																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(481-483)acG>acA		forkhead box Q1							39.0	42.0	41.0					6																	1313422		2200	4291	6491	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313422G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.483G>A	6.37:g.1313422G>A			Somatic					p.T161T	NM_033260.3	NP_150285.3	WXS	Illumina GAIIx	Phase_I	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	748	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	161					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.483G>A	CCDS4471.1																																																																																				0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	55	3	55	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150554545	150554545	+	Silent	SNP	C	C	T	rs546583289		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:150554545C>T	ENST00000493429.1	+	4	1571	c.987C>T	c.(985-987)cgC>cgT	p.R329R	AOC1_ENST00000360937.4_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000416793.2_Silent_p.R329R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	329					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TCCGGCTGCGCTCCTCCTCCG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14050	0.001		0.0	False		,,,				2504	0.0					ENST00000493429.1																			0											c.(985-987)cgC>cgT		amine oxidase, copper containing 1							25.0	27.0	26.0					7																	150554545		2202	4296	6498	SO:0001819	synonymous_variant	26							g.chr7:150554545C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.987C>T	7.37:g.150554545C>T			Somatic				AOC1_ENST00000416793.2_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000360937.4_Silent_p.R329R	p.R329R			WXS	Illumina GAIIx	Phase_I					4	1571	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.987C>T	CCDS43679.1																																																																																				0.662	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		16	36	16	36	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:135203782T>C	ENST00000224140.5	-	10	3385	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_ENST00000393220.1_Missense_Mutation_p.E1068G|SETX_ENST00000372169.2_Missense_Mutation_p.E1068G	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1068					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3202-3204)gAg>gGg		senataxin							122.0	124.0	123.0					9																	135203782		2202	4300	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203782T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3203A>G	9.37:g.135203782T>C	ENSP00000224140:p.Glu1068Gly		Somatic				SETX_ENST00000393220.1_Missense_Mutation_p.E1068G|SETX_ENST00000224140.5_Missense_Mutation_p.E1068G	p.E1068G			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3385	-		Myeloproliferative disorder(178;0.204)	1068					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3203A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	1.255	-0.617413	0.03663	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.11;-2.21;-1.82	5.06	-10.1	0.00402	.	35.900700	0.00166	N	0.000000	T	0.65460	0.2693	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61946	-0.6958	10	0.22109	T	0.4	.	4.5769	0.12238	0.1682:0.2329:0.4534:0.1456	.	1068;1068;1068	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	G	1068	ENSP00000224140:E1068G;ENSP00000361242:E1068G;ENSP00000376913:E1068G	ENSP00000224140:E1068G	E	-	2	0	SETX	134193603	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.302000	0.00520	-3.046000	0.00261	0.533000	0.62120	GAG		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	115	3	115	---	---	---	---
TRAF2	7186	broad.mit.edu	37	9	139793320	139793321	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793320_139793321GG>TT	ENST00000247668.2	+	2	180_181	c.128_129GG>TT	c.(127-129)aGG>aTT	p.R43I	TRAF2_ENST00000359662.3_Missense_Mutation_p.R43I|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43I	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCTCCGCAGGCCCTTCCAGG	0.663																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(127-129)aGg>aTg|c.(127-129)agG>agT		TNF receptor-associated factor 2																																				SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139793320G>T|g.chr9:139793321G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	Exception_encountered	9.37:g.139793320_139793321delinsTT	ENSP00000247668:p.Arg43Ile		Somatic				TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S	p.R43M|p.R43S			WXS	Illumina GAIIx	Phase_I	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	173|174	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	43					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.128G>T|c.129G>T	CCDS7013.1																																																																																				0.663	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		8|7	14	7	14	---	---	---	---
MICU1	10367	broad.mit.edu	37	10	74128038	74128038	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:74128038T>C	ENST00000361114.5	-	12	1442	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	MICU1_ENST00000398761.4_Missense_Mutation_p.K451R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R|MICU1_ENST00000398763.4_Missense_Mutation_p.K251R	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	449				K -> E (in Ref. 1; BAG60593). {ECO:0000305}.	calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ACCCATGTCTTTGGGCTTTTC	0.493																																						ENST00000398761.4																			0											c.(1351-1353)aAa>aGa		mitochondrial calcium uptake 1							95.0	93.0	94.0					10																	74128038		1943	4140	6083	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74128038T>C	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1346A>G	10.37:g.74128038T>C	ENSP00000354415:p.Lys449Arg		Somatic				MICU1_ENST00000398763.4_Missense_Mutation_p.K251R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000361114.5_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R	p.K451R			WXS	Illumina GAIIx	Phase_I	Q9BPX6	MICU1_HUMAN			14	1484	-			449					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1352A>G	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249749	0.80024	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80033	-1.32;-1.33;-1.32;0.95;0.95	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	N	0.26130	0.795	0.80722	D	1	B;B;P	0.40515	0.448;0.448;0.719	P;B;B	0.47573	0.55;0.399;0.348	T	0.73805	-0.3867	10	0.20519	T	0.43	.	16.3721	0.83368	0.0:0.0:0.0:1.0	.	251;251;449	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	R	449;451;449;251;251	ENSP00000354415:K449R;ENSP00000381745:K451R;ENSP00000384068:K449R;ENSP00000402470:K251R;ENSP00000381747:K251R	ENSP00000354415:K449R	K	-	2	0	MICU1	73798044	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.013000	0.88655	2.257000	0.74773	0.533000	0.62120	AAA		0.493	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		13	41	13	41	---	---	---	---
BGLT3	103344929	broad.mit.edu	37	11	5264445	5264445	+	RNA	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:5264445A>T	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							GAAGGAGATCAGCACCTTCTT	0.498																																						ENST00000454892.1																			0																																																			3044							g.chr11:5264445A>T																													11.37:g.5264445A>T			Somatic						NR_001589.1		WXS	Illumina GAIIx	Phase_I					0	51	-									RNA	SNP	ENST00000564523.1	37																																																																																						0.498	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			10	24	10	24	---	---	---	---
CSTF3	1479	broad.mit.edu	37	11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:33117876T>C	ENST00000323959.4	-	15	1490	c.1351A>G	c.(1351-1353)Att>Gtt	p.I451V	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	451					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGATAGTCAATATAGGCCAGG	0.338																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1351-1353)Att>Gtt		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							69.0	75.0	73.0					11																	33117876		2202	4295	6497	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117876T>C	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1351A>G	11.37:g.33117876T>C	ENSP00000315791:p.Ile451Val		Somatic				TCP11L1_ENST00000324357.9_Intron	p.I451V	NM_001326.2	NP_001317.1	WXS	Illumina GAIIx	Phase_I	Q12996	CSTF3_HUMAN			15	1490	-			451					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1351A>G	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637443	0.47049	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.37584	1.19	5.91	5.91	0.95273	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.37466	1.105	0.80722	D	1	B	0.16802	0.019	B	0.22152	0.038	T	0.05370	-1.0889	10	0.45353	T	0.12	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	451	Q12996	CSTF3_HUMAN	V	451;384	ENSP00000315791:I451V	ENSP00000315791:I451V	I	-	1	0	CSTF3	33074452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.073000	0.71245	2.263000	0.75096	0.377000	0.23210	ATT		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		29	66	29	66	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:118498113T>C	ENST00000361417.2	+	7	985	c.574T>C	c.(574-576)Tct>Cct	p.S192P	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGAGCTCTATTGAGAA	0.572																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(574-576)Tct>Cct		pleckstrin homology-like domain, family B, member 1							68.0	62.0	64.0					11																	118498113		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498113T>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.574T>C	11.37:g.118498113T>C	ENSP00000354498:p.Ser192Pro		Somatic				PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	p.S192P	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	985	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	192					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.574T>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.913858	0.72983	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.36699	1.24;1.24	5.94	5.94	0.96194	.	0.284702	0.33938	N	0.004401	T	0.57489	0.2057	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.57248	-0.7844	10	0.52906	T	0.07	-20.0667	16.0685	0.80907	0.0:0.0:0.0:1.0	.	191;192;192	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	P	192;191;192;192	ENSP00000354498:S192P;ENSP00000348359:S192P	ENSP00000348359:S192P	S	+	1	0	PHLDB1	118003323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.542000	0.82095	2.272000	0.75746	0.460000	0.39030	TCT		0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		17	49	17	49	---	---	---	---
GPRC5A	9052	broad.mit.edu	37	12	13061954	13061954	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:13061954G>A	ENST00000014914.5	+	2	1661	c.771G>A	c.(769-771)ctG>ctA	p.L257L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	257					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGTGTTCCTGTTGGCTTATG	0.532																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(769-771)ctG>ctA		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						102.0	81.0	88.0					12																	13061954		2203	4300	6503	SO:0001819	synonymous_variant	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061954G>A	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.771G>A	12.37:g.13061954G>A			Somatic				GPRC5A_ENST00000542056.1_Intron	p.L257L	NM_003979.3	NP_003970.1	WXS	Illumina GAIIx	Phase_I	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1661	+		Prostate(47;0.141)	257					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.771G>A	CCDS8657.1																																																																																				0.532	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			11	30	11	30	---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:52774883A>G	ENST00000257951.3	-	6	1250	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	395	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGTGCTCAATCTCTGCCTT	0.562																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(1183-1185)aTt>aCt		keratin 84							236.0	208.0	217.0					12																	52774883		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52774883A>G	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1184T>C	12.37:g.52774883A>G	ENSP00000257951:p.Ile395Thr		Somatic				RP3-416H24.4_ENST00000547174.1_RNA	p.I395T	NM_033045.3	NP_149034.2	WXS	Illumina GAIIx	Phase_I	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1250	-	all_hematologic(5;0.12)		395			Coil 2.|Rod.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1184T>C	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	a	14.37	2.515090	0.44763	.	.	ENSG00000161849	ENST00000257951	D	0.91068	-2.78	5.54	3.05	0.35203	Filament (1);	0.470122	0.18319	N	0.144875	D	0.88753	0.6522	M	0.77406	2.37	0.27017	N	0.964553	B	0.18166	0.026	B	0.18871	0.023	T	0.82715	-0.0320	10	0.62326	D	0.03	.	7.3466	0.26666	0.8018:0.0:0.07:0.1282	.	395	Q9NSB2	KRT84_HUMAN	T	395	ENSP00000257951:I395T	ENSP00000257951:I395T	I	-	2	0	KRT84	51061150	0.975000	0.34042	0.520000	0.27837	0.899000	0.52679	3.818000	0.55678	0.941000	0.37499	-0.253000	0.11424	ATT		0.562	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		8	196	8	196	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:20845843G>A	ENST00000262715.5	-	40	5831	c.5791C>T	c.(5791-5793)Ctc>Ttc	p.L1931F	TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1931					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCACAGAGAGGGCAGGAGAG	0.547																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5791-5793)Ctc>Ttc		telomerase-associated protein 1							80.0	89.0	86.0					14																	20845843		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845843G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5791C>T	14.37:g.20845843G>A	ENSP00000262715:p.Leu1931Phe		Somatic				TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	p.L1931F	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5831	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1931					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5791C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739748	0.69304	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.71341	0.63;-0.56;1.26	4.69	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.265718	0.29884	N	0.010956	T	0.75451	0.3851	L	0.52364	1.645	0.39833	D	0.973006	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.946;0.998;0.999;0.996	T	0.70011	-0.4989	10	0.13470	T	0.59	-16.045	10.4552	0.44546	0.095:0.0:0.905:0.0	.	269;1823;1274;1931	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	F	1931;1931;1823;269	ENSP00000262715:L1931F;ENSP00000452574:L1823F;ENSP00000438849:L269F	ENSP00000262715:L1931F	L	-	1	0	TEP1	19915683	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	3.902000	0.56310	2.442000	0.82660	0.563000	0.77884	CTC		0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	94	3	94	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53485706	53485706	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:53485706T>C	ENST00000262133.6	+	5	866	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RP11-44F14.5_ENST00000565073.1_RNA|RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	243					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTTCAGTGTTCTAATCGTA	0.378																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(727-729)tgT>tgC		retinoblastoma-like 2 (p130)							191.0	172.0	179.0					16																	53485706		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53485706T>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.729T>C	16.37:g.53485706T>C			Somatic				RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	p.C243C	NM_005611.3	NP_005602.3	WXS	Illumina GAIIx	Phase_I	Q08999	RBL2_HUMAN			5	866	+			243					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.729T>C	CCDS10748.1																																																																																				0.378	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		25	97	25	97	---	---	---	---
MYCBPAP	84073	broad.mit.edu	37	17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:48601102C>T	ENST00000323776.5	+	12	1883	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACGCGGTCTCCCTGACCCAG	0.522																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1720-1722)tCc>tTc		MYCBP associated protein							66.0	66.0	66.0					17																	48601102		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48601102C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1721C>T	17.37:g.48601102C>T	ENSP00000323184:p.Ser574Phe		Somatic				MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	p.S574F	NM_032133.4	NP_115509.4	WXS	Illumina GAIIx	Phase_I	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		12	1883	+	Breast(11;1.23e-18)		537						Missense_Mutation	SNP	ENST00000323776.5	37	c.1721C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938495	0.52972	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.45668	0.89;0.89	5.74	5.74	0.90152	.	0.170536	0.51477	D	0.000097	T	0.62575	0.2439	M	0.73962	2.25	0.41917	D	0.990496	D	0.76494	0.999	D	0.67548	0.952	T	0.66131	-0.6000	10	0.87932	D	0	-25.1144	13.1473	0.59470	0.0:0.9271:0.0:0.0729	.	537	Q8TBZ2	MYBPP_HUMAN	F	574;537	ENSP00000323184:S574F;ENSP00000397209:S537F	ENSP00000323184:S574F	S	+	2	0	MYCBPAP	45956101	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	4.367000	0.59498	2.717000	0.92951	0.655000	0.94253	TCC		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		19	45	19	45	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T	rs552649817		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:15375515G>T	ENST00000263377.2	-	6	1133	c.912C>A	c.(910-912)caC>caA	p.H304Q	BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	304					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGTGGCTCGTGAATGGGGT	0.622			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(910-912)caC>caA		bromodomain containing 4							67.0	69.0	69.0					19																	15375515		2203	4299	6502	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15375515G>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.912C>A	19.37:g.15375515G>T	ENSP00000263377:p.His304Gln		Somatic	OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	p.H304Q	NM_058243.2	NP_490597.1	WXS	Illumina GAIIx	Phase_I	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		6	1133	-			304					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.912C>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019465	0.35606	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.28255	1.62;3.34;3.32	5.45	-5.79	0.02354	.	0.000000	0.64402	D	0.000004	T	0.35219	0.0924	L	0.50919	1.6	0.29262	N	0.871296	D;D;P	0.63046	0.961;0.992;0.849	P;P;B	0.56216	0.579;0.794;0.292	T	0.37957	-0.9683	10	0.21014	T	0.42	-20.4072	16.6862	0.85309	0.3579:0.0:0.6421:0.0	.	304;304;304	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	Q	304	ENSP00000263377:H304Q;ENSP00000360901:H304Q;ENSP00000353112:H304Q	ENSP00000263377:H304Q	H	-	3	2	BRD4	15236515	0.001000	0.12720	0.410000	0.26471	0.928000	0.56348	-0.594000	0.05733	-1.509000	0.01798	-0.251000	0.11542	CAC		0.622	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		4	97	4	97	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41007898	41007898	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:41007898C>T	ENST00000352632.3	+	8	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_ENST00000344104.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000338932.3_Silent_p.S285S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	285					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTATTTCTCCAAGATGAAGG	0.537																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(853-855)tcC>tcT		spectrin, beta, non-erythrocytic 4							135.0	133.0	134.0					19																	41007898		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41007898C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.855C>T	19.37:g.41007898C>T			Somatic				SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S|SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S	p.S285S			WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	941	+			285					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.855C>T	CCDS12559.1																																																																																				0.537	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	128	4	128	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515338	44515338	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:44515338C>A	ENST00000429154.2	+	5	1375	c.1147C>A	c.(1147-1149)Cag>Aag	p.Q383K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	383				QRV -> PEG (in Ref. 1; AAB62180). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TAACTTGCACCAGAGGGTCCA	0.438																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1147-1149)Cag>Aag		zinc finger protein 230							104.0	101.0	102.0					19																	44515338		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515338C>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1147C>A	19.37:g.44515338C>A	ENSP00000409318:p.Gln383Lys		Somatic					p.Q383K	NM_006300.3	NP_006291.2	WXS	Illumina GAIIx	Phase_I	Q9UIE0	ZN230_HUMAN			5	1375	+		Prostate(69;0.0352)	383	QRV -> PEG (in Ref. 1; AAB62180).				O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1147C>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723627	0.48728	.	.	ENSG00000159882	ENST00000429154	T	0.07216	3.21	2.55	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	L	0.33189	0.99	0.09310	N	0.999999	P	0.41188	0.741	B	0.37601	0.254	T	0.38156	-0.9674	9	0.31617	T	0.26	.	7.7286	0.28773	0.0:0.7032:0.0:0.2968	.	383	Q9UIE0	ZN230_HUMAN	K	383	ENSP00000409318:Q383K	ENSP00000409318:Q383K	Q	+	1	0	ZNF230	49207178	0.000000	0.05858	0.000000	0.03702	0.801000	0.45260	-2.753000	0.00791	-0.174000	0.10743	0.205000	0.17691	CAG		0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			4	109	4	109	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:58565071G>T	ENST00000282326.1	+	6	1126	c.879G>T	c.(877-879)caG>caT	p.Q293H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	293					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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTCCAGTGTGCCGACT	0.642																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(877-879)caG>caT		zinc finger and SCAN domain containing 1							66.0	61.0	63.0					19																	58565071		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565071G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.879G>T	19.37:g.58565071G>T	ENSP00000282326:p.Gln293His		Somatic					p.Q293H	NM_182572.3	NP_872378.3	WXS	Illumina GAIIx	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1126	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	293					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.879G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	8.156	0.788381	0.16258	.	.	ENSG00000152467	ENST00000282326	T	0.29142	1.58	1.14	-0.0355	0.13892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10895	0.0266	N	0.08118	0	0.80722	D	1	P	0.42078	0.77	B	0.32090	0.14	T	0.11348	-1.0591	9	0.54805	T	0.06	.	4.9546	0.14033	0.2698:0.0:0.7302:0.0	.	293	Q8NBB4	ZSCA1_HUMAN	H	293	ENSP00000282326:Q293H	ENSP00000282326:Q293H	Q	+	3	2	ZSCAN1	63256883	0.025000	0.19082	0.008000	0.14137	0.048000	0.14542	-0.109000	0.10840	0.010000	0.14839	0.491000	0.48974	CAG		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		20	43	20	43	---	---	---	---
SOX12	6666	broad.mit.edu	37	20	306756	306756	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:306756C>G	ENST00000342665.2	+	1	518	c.188C>G	c.(187-189)cCc>cGc	p.P63R	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	63					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCAGTGGCCCGACATGCAC	0.662																																						ENST00000342665.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(187-189)cCc>cGc		SRY (sex determining region Y)-box 12							37.0	32.0	33.0					20																	306756		2203	4300	6503	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306756C>G	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.188C>G	20.37:g.306756C>G	ENSP00000347646:p.Pro63Arg		Somatic				RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R	p.P63R	NM_006943.2	NP_008874.2	WXS	Illumina GAIIx	Phase_I	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	518	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	63					Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.188C>G	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818960	0.50633	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.99674	-6.36;-6.36	3.63	3.63	0.41609	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.52532	U	0.000078	D	0.99837	0.9926	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96585	0.9433	10	0.87932	D	0	.	12.8184	0.57679	0.0:1.0:0.0:0.0	.	63	O15370	SOX12_HUMAN	R	63	ENSP00000441671:P63R;ENSP00000347646:P63R	ENSP00000347646:P63R	P	+	2	0	SOX12	254756	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	6.920000	0.75799	1.858000	0.53909	0.313000	0.20887	CCC		0.662	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		7	20	7	20	---	---	---	---
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:48746131G>C	ENST00000341698.2	-	4	429	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000557021.1_Missense_Mutation_p.L144V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGCGGCAGCAGTGTCACCAGG	0.627																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(430-432)Ctg>Gtg		transmembrane protein 189							175.0	149.0	158.0					20																	48746131		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48746131G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.430C>G	20.37:g.48746131G>C	ENSP00000344166:p.Leu144Val		Somatic				TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V	p.L144V	NM_199203.2	NP_954673	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		4	590	-									Missense_Mutation	SNP	ENST00000341698.2	37	c.430C>G	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784414	0.31593	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.52526	0.66;0.66;0.9;0.9	5.26	3.31	0.37934	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.27663	0.0680	N	0.13140	0.3	0.20638	N	0.99987	B;B;B;B	0.14438	0.005;0.01;0.01;0.002	B;B;B;B	0.29267	0.032;0.1;0.1;0.009	T	0.32481	-0.9905	9	0.08381	T	0.77	-5.0339	6.7916	0.23703	0.218:0.1344:0.6476:0.0	.	69;141;144;144	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	V	144;144;141;69;144	ENSP00000344166:L144V;ENSP00000450635:L144V;ENSP00000360713:L141V;ENSP00000360715:L144V	ENSP00000360713:L141V	L	-	1	2	TMEM189-UBE2V1;TMEM189	48179538	0.688000	0.27680	0.943000	0.38184	0.991000	0.79684	0.945000	0.29056	1.210000	0.43336	0.491000	0.48974	CTG		0.627	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			20	61	20	61	---	---	---	---
SRRD	402055	broad.mit.edu	37	22	26884138	26884138	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:26884138T>C	ENST00000215917.7	+	3	408	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	132					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGAGAGATCTTGGTCACAGG	0.488																																						ENST00000215917.7																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(394-396)Ttg>Ctg		SRR1 domain containing							127.0	126.0	126.0					22																	26884138		2012	4198	6210	SO:0001819	synonymous_variant	402055				rhythmic process			g.chr22:26884138T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.394T>C	22.37:g.26884138T>C			Somatic					p.L132L	NM_001013694.2	NP_001013716.2	WXS	Illumina GAIIx	Phase_I	Q9UH36	SRR1L_HUMAN			3	408	+								Q6NXP8	Silent	SNP	ENST00000215917.7	37	c.394T>C	CCDS42995.1																																																																																				0.488	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		15	51	15	51	---	---	---	---
MAOA	4128	broad.mit.edu	37	X	43571169	43571169	+	Silent	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chrX:43571169T>A	ENST00000338702.3	+	4	480	c.357T>A	c.(355-357)atT>atA	p.I119I	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	119					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GGAATCCCATTGCATATTTGG	0.368																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(355-357)atT>atA		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						150.0	138.0	142.0					X																	43571169		2203	4300	6503	SO:0001819	synonymous_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43571169T>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.357T>A	X.37:g.43571169T>A			Somatic				MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	p.I119I	NM_000240.3	NP_000231.1	WXS	Illumina GAIIx	Phase_I	P21397	AOFA_HUMAN			4	480	+			119					B4DF46|Q16426	Silent	SNP	ENST00000338702.3	37	c.357T>A	CCDS14260.1																																																																																				0.368	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		7	91	7	91	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16891388	16891393	+	In_Frame_Del	DEL	CTTCCC	CTTCCC	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:16891388_16891393delCTTCCC	ENST00000430580.2	-	28	3972_3977	c.3085_3090delGGGAAG	c.(3085-3090)gggaagdel	p.GK1029del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Glu.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		cccttcttttcttccccttccccttc	0.432																																						ENST00000430580.2																			0											c.(3085-3090)gggaagdel		neuroblastoma breakpoint family, member 1																																				SO:0001651	inframe_deletion	55672					cytoplasm		g.chr1:16891388_16891393delCTTCCC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3085_3090delGGGAAG	1.37:g.16891394_16891399delCTTCCC	ENSP00000474456:p.Gly1029_Lys1030del		Somatic					p.GK1029del	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	28	3972_3977	-			1026			NBPF 6.|Poly-Glu.		Q8N4E8|Q9C0H0	In_Frame_Del	DEL	ENST00000430580.2	37	c.3085_3090delGGGAAG																																																																																					0.432	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		7	311	7	311	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	152012422	152012424	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:152012422_152012424delCAC	ENST00000262189.6	-	4	608_609	c.390_391delGTG	c.(388-393)aggtga>agga	p.*131del	KMT2C_ENST00000355193.2_Splice_Site_p.*131del	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	131					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGAGCTGTTCACTAGTAAAAAT	0.35																																						ENST00000355193.2																			0											c.(388-393)aggtga>agga		lysine (K)-specific methyltransferase 2C																																				SO:0001630	splice_region_variant	58508							g.chr7:152012422_152012424delCAC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.390-1GTG>-	7.37:g.152012422_152012424delCAC			Somatic				KMT2C_ENST00000262189.6_Splice_Site_p.*131del	p.*131del			WXS	Illumina GAIIx	Phase_I					4	608_609	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	DEL	ENST00000262189.6	37	c.390_391delGTG	CCDS5931.1																																																																																				0.350	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		In_Frame_Del	8	45	8	45	---	---	---	---
