#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCDC110	256309	broad.mit.edu	37	4	186392098	186392098	+	Splice_Site	SNP	C	C	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr4:186392098C>G	ENST00000307588.3	-	2	191		c.e2+1		CCDC110_ENST00000393540.3_Splice_Site|RP11-279O9.4_ENST00000512874.1_5'Flank|CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110							nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGCGATTTTACCTGTGTCACT	0.552																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.e2+1		coiled-coil domain containing 110							146.0	136.0	139.0					4																	186392098		2203	4300	6503	SO:0001630	splice_region_variant	256309					nucleus		g.chr4:186392098C>G	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.115+1G>C	4.37:g.186392098C>G						CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000393540.3_Splice_Site		NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	2	191	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)						Q86YI9|Q8N7W0	Splice_Site	SNP	ENST00000307588.3	37		CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	7.296	0.612047	0.14066	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	.	.	.	4.65	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.027	0.42076	0.2013:0.7987:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC110	186629092	1.000000	0.71417	0.996000	0.52242	0.008000	0.06430	3.245000	0.51407	1.152000	0.42452	-0.310000	0.09108	.		0.552	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	Intron	35	123	0	0	0	1	0	35	123				
MYCBP2	23077	broad.mit.edu	37	13	77672530	77672530	+	Missense_Mutation	SNP	G	G	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr13:77672530G>C	ENST00000544440.2	-	56	8662	c.8645C>G	c.(8644-8646)tCt>tGt	p.S2882C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2920C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACATGGGGAGAGGGAGCTCT	0.473																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8758-8760)tCt>tGt		MYC binding protein 2, E3 ubiquitin protein ligase							66.0	67.0	66.0					13																	77672530		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672530G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8645C>G	13.37:g.77672530G>C	ENSP00000444596:p.Ser2882Cys					MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2882C	p.S2920C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9025	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2882						Missense_Mutation	SNP	ENST00000544440.2	37	c.8759C>G		.	.	.	.	.	.	.	.	.	.	G	19.61	3.860130	0.71834	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.59906	1.14;1.14;1.14;0.23	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.992;0.981	T	0.73591	-0.3934	10	0.52906	T	0.07	.	19.2299	0.93834	0.0:0.0:1.0:0.0	.	268;2882;2882	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	C	2882;2920;2882;405	ENSP00000349892:S2882C;ENSP00000384288:S2920C;ENSP00000444596:S2882C;ENSP00000353197:S405C	ENSP00000349892:S2882C	S	-	2	0	MYCBP2	76570531	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.628000	0.83189	2.553000	0.86117	0.591000	0.81541	TCT		0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	74	0	0	0	1	0	9	74				
XRN1	54464	broad.mit.edu	37	3	142151666	142151666	+	Missense_Mutation	SNP	C	C	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr3:142151666C>T	ENST00000264951.4	-	2	262	c.145G>A	c.(145-147)Gat>Aat	p.D49N	XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	49					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAACATCATCATCATTAGGA	0.333																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(145-147)Gat>Aat		5'-3' exoribonuclease 1							69.0	69.0	69.0					3																	142151666		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151666C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.145G>A	3.37:g.142151666C>T	ENSP00000264951:p.Asp49Asn					XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N	p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			2	262	-			49					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.145G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797259	0.50208	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.30448	1.54;1.53	6.04	6.04	0.98038	Putative 5-3 exonuclease (1);	0.047522	0.85682	D	0.000000	T	0.32852	0.0843	L	0.36672	1.1	0.80722	D	1	B;B;B	0.25719	0.016;0.109;0.132	B;B;B	0.32393	0.01;0.09;0.145	T	0.03364	-1.1044	10	0.38643	T	0.18	-20.8573	20.5792	0.99380	0.0:1.0:0.0:0.0	.	49;49;49	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	N	49	ENSP00000264951:D49N;ENSP00000376707:D49N	ENSP00000264951:D49N	D	-	1	0	XRN1	143634356	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.989000	0.70587	2.873000	0.98535	0.561000	0.74099	GAT		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	58	0	0	0	1	0	5	58				
COL12A1	1303	broad.mit.edu	37	6	75884866	75884866	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:75884866G>A	ENST00000322507.8	-	13	2907	c.2598C>T	c.(2596-2598)acC>acT	p.T866T	COL12A1_ENST00000416123.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T866T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	866	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCGTATTGGTTGTATCTC	0.527																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2596-2598)acC>acT		collagen, type XII, alpha 1							273.0	269.0	271.0					6																	75884866		2003	4162	6165	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884866G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2598C>T	6.37:g.75884866G>A						COL12A1_ENST00000416123.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T866T	p.T866T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2907	-			866			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2598C>T	CCDS43482.1																																																																																				0.527	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		18	118	0	0	0	1	0	18	118				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	40	0	0	0	1	0	4	40				
CD63	967	broad.mit.edu	37	12	56120995	56120995	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr12:56120995G>A	ENST00000549117.1	-	3	631	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000552754.1_Silent_p.F42F|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000548160.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Silent_p.F65F	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	65					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AAGCCACCAGGAAGAGGAAGA	0.592																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(193-195)ttC>ttT		CD63 molecule							98.0	100.0	99.0					12																	56120995		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120995G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.195C>T	12.37:g.56120995G>A						CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000257857.4_Silent_p.F65F|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000552754.1_Silent_p.F42F	p.F65F	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	631	-			65					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	ENST00000549117.1	37	c.195C>T	CCDS8890.1																																																																																				0.592	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			7	43	0	0	0	1	0	7	43				
TSGA10	80705	broad.mit.edu	37	2	99681428	99681428	+	Missense_Mutation	SNP	C	C	A	rs538030895		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:99681428C>A	ENST00000393483.3	-	16	2222	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	460					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGAGGGAATCTACTTTTTCT	0.373																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1378-1380)Gat>Tat		testis specific, 10							141.0	133.0	136.0					2																	99681428		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99681428C>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1378G>T	2.37:g.99681428C>A	ENSP00000377123:p.Asp460Tyr					TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y	p.D460Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			16	2222	-			460					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1378G>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152335	0.78001	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.80123	2.47;2.47;2.47;2.47;-1.34;2.47	5.3	5.3	0.74995	.	0.153691	0.42682	D	0.000663	T	0.80439	0.4623	L	0.38175	1.15	0.80722	D	1	P	0.51537	0.946	P	0.50708	0.648	T	0.82287	-0.0532	10	0.66056	D	0.02	-17.3017	16.4811	0.84158	0.0:1.0:0.0:0.0	.	460	Q9BZW7	TSG10_HUMAN	Y	460	ENSP00000377123:D460Y;ENSP00000386956:D460Y;ENSP00000347161:D460Y;ENSP00000444419:D460Y;ENSP00000386508:D460Y;ENSP00000377122:D460Y	ENSP00000347161:D460Y	D	-	1	0	TSGA10	99047860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.260000	0.51523	2.767000	0.95098	0.585000	0.79938	GAT		0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		7	52	1	0	0.00448238	1	0.00461045	7	52				
SPANXD	64648	broad.mit.edu	37	X	140785702	140785702	+	Missense_Mutation	SNP	C	C	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:140785702C>T	ENST00000370515.3	-	2	547	c.214G>A	c.(214-216)Gcc>Acc	p.A72T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	72						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTTTCGGGCGTGGTCATTC	0.433																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(214-216)Gcc>Acc		SPANX family, member D							228.0	194.0	206.0					X																	140785702		2202	4289	6491	SO:0001583	missense	64648							g.chrX:140785702C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.214G>A	X.37:g.140785702C>T	ENSP00000359546:p.Ala72Thr						p.A72T	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	547	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.214G>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	7.687	0.690183	0.15039	.	.	ENSG00000196406	ENST00000370515	T	0.08008	3.14	.	.	.	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	1	P	0.48016	0.904	B	0.39840	0.311	T	0.03910	-1.0993	6	0.66056	D	0.02	.	.	.	.	.	72	Q9BXN6	SPNXD_HUMAN	T	72	ENSP00000359546:A72T	ENSP00000359546:A72T	A	-	1	0	SPANXD	140613368	0.011000	0.17503	0.008000	0.14137	0.008000	0.06430	-2.377000	0.01069	-2.404000	0.00576	-2.435000	0.00213	GCC		0.433	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			5	160	0	0	0	1	0	5	160				
MYSM1	114803	broad.mit.edu	37	1	59126842	59126842	+	Splice_Site	SNP	T	T	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:59126842T>G	ENST00000472487.1	-	19	2367	c.2328A>C	c.(2326-2328)aaA>aaC	p.K776N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	776					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GACAGCTTACTTTCTGCAAAC	0.378																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e19+1		Myb-like, SWIRM and MPN domains 1							90.0	86.0	87.0					1																	59126842		1834	4083	5917	SO:0001630	splice_region_variant	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59126842T>G	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2328+1A>C	1.37:g.59126842T>G						MYSM1_ENST00000493821.1_5'UTR	p.K776_splice	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			19	2367	-	all_cancers(7;9.36e-06)		776					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Splice_Site	SNP	ENST00000472487.1	37	c.2328_splice	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824209	0.71143	.	.	ENSG00000162601	ENST00000472487	T	0.37752	1.18	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54801	-0.8239	9	.	.	.	-25.2304	12.8614	0.57915	0.0:0.0:0.0:1.0	.	776	Q5VVJ2	MYSM1_HUMAN	N	776	ENSP00000418734:K776N	.	K	-	3	2	MYSM1	58899430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.746000	0.38288	2.171000	0.68590	0.455000	0.32223	AAA		0.378	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	Missense_Mutation	5	27	0	0	0	1	0	5	27				
CDC42EP3	10602	broad.mit.edu	37	2	37873410	37873410	+	Missense_Mutation	SNP	G	G	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:37873410G>C	ENST00000295324.3	-	2	1321	c.321C>G	c.(319-321)atC>atG	p.I107M	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	107					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TCGGGAGGGAGATGGCATTTT	0.547																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(319-321)atC>atG		CDC42 effector protein (Rho GTPase binding) 3							86.0	87.0	87.0					2																	37873410		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873410G>C	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.321C>G	2.37:g.37873410G>C	ENSP00000295324:p.Ile107Met					AC006369.2_ENST00000419425.1_RNA	p.I107M	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1321	-		all_hematologic(82;0.172)	107					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.321C>G	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522248	0.64747	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T;T	0.39229	1.09;1.09	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.68593	2.085	0.53005	D	0.999963	D	0.71674	0.998	D	0.78314	0.991	T	0.57849	-0.7740	10	0.41790	T	0.15	.	11.1023	0.48182	0.0829:0.0:0.9171:0.0	.	107	Q9UKI2	BORG2_HUMAN	M	107	ENSP00000295324:I107M;ENSP00000403298:I107M	ENSP00000295324:I107M	I	-	3	3	CDC42EP3	37726914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.952000	0.49097	2.793000	0.96121	0.655000	0.94253	ATC		0.547	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		6	53	0	0	0	1	0	6	53				
OBSCN	84033	broad.mit.edu	37	1	228486309	228486309	+	Intron	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:228486309G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000570156.2_Silent_p.Q4367Q|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.Q1057Q|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGAAGCAGGATGGGACGA	0.582																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13099-13101)caG>caA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							173.0	145.0	154.0					1																	228486309		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228486309G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+3565G>A	1.37:g.228486309G>A						RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.Q1057Q|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR	p.Q4367Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			49	13175	+		Prostate(94;0.0405)	3410			Ig-like 45.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.13101G>A	CCDS58065.1																																																																																				0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	58	0	0	0	1	0	5	58				
PCDHA7	56141	broad.mit.edu	37	5	140215957	140215957	+	Silent	SNP	C	C	T	rs558442824		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr5:140215957C>T	ENST00000525929.1	+	1	1989	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A663A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> G (in dbSNP:rs6880234).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCACAGCCACCGTGCTGG	0.652																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1987-1989)gcC>gcT									63.0	66.0	65.0					5																	140215957		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140215957C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1989C>T	5.37:g.140215957C>T						PCDHA7_ENST00000378125.3_Silent_p.A663A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A663A	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1989	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1989C>T	CCDS54918.1																																																																																				0.652	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		9	49	0	0	0	1	0	9	49				
TNNI2	7136	broad.mit.edu	37	11	1860932	1860932	+	Silent	SNP	A	A	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr11:1860932A>G	ENST00000381906.1	+	2	75	c.6A>G	c.(4-6)ggA>ggG	p.G2G	TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381911.1_Silent_p.G2G	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	2	Involved in binding TNC.				muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCAGGATGGGAGAGTAAGTGG	0.632																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(4-6)ggA>ggG		troponin I type 2 (skeletal, fast)							176.0	141.0	153.0					11																	1860932		2202	4299	6501	SO:0001819	synonymous_variant	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1860932A>G	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.6A>G	11.37:g.1860932A>G						TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381911.1_Silent_p.G2G	p.G2G	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	75	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2			Involved in binding TNC.		A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	37	c.6A>G	CCDS31333.1																																																																																				0.632	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		3	21	0	0	0	1	0	3	21				
NME1	4830	broad.mit.edu	37	17	49239114	49239114	+	Missense_Mutation	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr17:49239114G>A	ENST00000393196.3	+	5	498	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME2_ENST00000555572.1_Intron|NME2_ENST00000393193.2_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.V148M|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	123					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	CAGTGATTCTGTGGAGAGTGC	0.478																																					GBM(176;1298 2890 6639 30062)	ENST00000336097.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(442-444)Gtg>Atg		NME/NM23 nucleoside diphosphate kinase 1							128.0	117.0	121.0					17																	49239114		2203	4300	6503	SO:0001583	missense	4830							g.chr17:49239114G>A	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.367G>A	17.37:g.49239114G>A	ENSP00000376892:p.Val123Met					NME2_ENST00000376392.6_Intron|NME1_ENST00000393196.3_Missense_Mutation_p.V123M|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000555572.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME2_ENST00000393193.2_Intron	p.V148M	NM_198175.1	NP_937818.1			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		6	678	+								Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	c.442G>A	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693554	0.48202	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.78003	-1.14;-1.14;-1.14	5.81	4.84	0.62591	.	.	.	.	.	D	0.88047	0.6332	H	0.97465	4.01	0.42457	D	0.992776	B;P	0.37997	0.145;0.614	B;B	0.43103	0.236;0.408	D	0.91172	0.4969	9	0.72032	D	0.01	-9.3081	15.1878	0.73020	0.0675:0.0:0.9324:0.0	.	123;148	P15531;P15531-2	NDKA_HUMAN;.	M	123;148;148	ENSP00000376892:V123M;ENSP00000337060:V148M;ENSP00000013034:V148M	ENSP00000013034:V148M	V	+	1	0	NME1	46594113	1.000000	0.71417	0.923000	0.36655	0.191000	0.23601	4.453000	0.60061	1.605000	0.50152	-0.136000	0.14681	GTG		0.478	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		9	26	0	0	0	1	0	9	26				
MAGEA10	4109	broad.mit.edu	37	X	151303216	151303216	+	Missense_Mutation	SNP	G	G	A	rs149591320	byFrequency	TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:151303216G>A	ENST00000370323.4	-	4	1193	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R293W|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	293	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.R293R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACTCATACCGTGCAGGATCA	0.517													G|||	1	0.000264901	0.0	0.0	3775	,	,		13333	0.001		0.0	False		,,,				2504	0.0					ENST00000370323.4																			1	Substitution - coding silent(1)	p.R293R(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(877-879)Cgg>Tgg		melanoma antigen family A, 10		G	TRP/ARG,,TRP/ARG	0,3835		0,0,0,1632,571	102.0	99.0	100.0		877,,877	-1.9	0.0	X	dbSNP_134	100	3,6725		0,1,2,2427,1870	no	missense,intron,missense	MAGEA10,MAGEA10-MAGEA5	NM_001011543.1,NM_001204811.1,NM_021048.3	101,,101	0,1,2,4059,2441	AA,AG,A,GG,G		0.0446,0.0,0.0284	probably-damaging,,probably-damaging	293/370,,293/370	151303216	3,10560	2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303216G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.877C>T	X.37:g.151303216G>A	ENSP00000359347:p.Arg293Trp					MAGEA10_ENST00000244096.3_Missense_Mutation_p.R293W|RP11-1007I13.4_ENST00000509345.2_RNA	p.R293W	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	1193	-	Acute lymphoblastic leukemia(192;6.56e-05)		293			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.877C>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347071	0.41599	0.0	4.46E-4	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05199	3.48;3.48	2.6	-1.85	0.07784	.	0.581457	0.16418	N	0.215280	T	0.18002	0.0432	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	P	0.62089	0.898	T	0.13388	-1.0511	10	0.38643	T	0.18	.	0.248	0.00201	0.2968:0.2035:0.2913:0.2084	.	293	P43363	MAGAA_HUMAN	W	293	ENSP00000359347:R293W;ENSP00000244096:R293W	ENSP00000244096:R293W	R	-	1	2	MAGEA10	151053872	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-0.102000	0.10956	-0.659000	0.05359	0.292000	0.19580	CGG		0.517	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		13	45	0	0	0	1	0	13	45				
RREB1	6239	broad.mit.edu	37	6	7240690	7240690	+	Intron	SNP	T	T	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:7240690T>A	ENST00000349384.6	+	11	4122				RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.C1276*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTTCCCTTGTCAAAAATGCG	0.413																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3826-3828)tgT>tgA		ras responsive element binding protein 1							109.0	108.0	108.0					6																	7240690		2203	4300	6503	SO:0001627	intron_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7240690T>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5967T>A	6.37:g.7240690T>A						RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276*	p.C1276*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			11	4365	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1272					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.3828T>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	46	12.373499	0.99662	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5385	14.8501	0.70289	0.0:0.0:0.0:1.0	.	.	.	.	X	1276	.	ENSP00000335574:C1276X	C	+	3	2	RREB1	7185689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.299000	0.51826	2.167000	0.68274	0.528000	0.53228	TGT		0.413	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			16	77	0	0	0	1	0	16	77				
TTI1	9675	broad.mit.edu	37	20	36640365	36640365	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:36640365G>A	ENST00000373448.2	-	3	2092	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	TTI1_ENST00000373447.3_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Silent_p.C618C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	618					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGTTCATGGAGCAAATAGTGG	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1852-1854)tgC>tgT		TELO2 interacting protein 1							139.0	136.0	137.0					20																	36640365		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640365G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1854C>T	20.37:g.36640365G>A						TTI1_ENST00000449821.1_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.C618C	p.C618C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2092	-			618					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1854C>T	CCDS13300.1																																																																																				0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		4	96	0	0	0	1	0	4	96				
CHRM2	1129	broad.mit.edu	37	7	136700393	136700393	+	Missense_Mutation	SNP	C	C	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr7:136700393C>G	ENST00000445907.2	+	3	1309	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	261					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAACAAAATCCAGAATGGCAA	0.517																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(781-783)Cag>Gag		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						54.0	60.0	58.0					7																	136700393		2202	4300	6502	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700393C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.781C>G	7.37:g.136700393C>G	ENSP00000399745:p.Gln261Glu					AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E	p.Q261E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1309	+			261					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.781C>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012600	0.19277	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.455157	0.23105	N	0.051874	T	0.52629	0.1746	L	0.50333	1.59	0.54753	D	0.99998	B	0.23249	0.082	B	0.29663	0.105	T	0.51466	-0.8702	10	0.02654	T	1	-5.9875	19.1729	0.93588	0.0:1.0:0.0:0.0	.	261	P08172	ACM2_HUMAN	E	261	ENSP00000399745:Q261E;ENSP00000415386:Q261E;ENSP00000319984:Q261E;ENSP00000380733:Q261E;ENSP00000384937:Q261E;ENSP00000384401:Q261E	ENSP00000319984:Q261E	Q	+	1	0	CHRM2	136350933	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.954000	0.70298	2.541000	0.85698	0.655000	0.94253	CAG		0.517	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			3	20	0	0	0	1	0	3	20				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	30	0	0	0	1	0	3	30				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	23	0	0	0	1	0	4	23				
SEPT11	55752	broad.mit.edu	37	4	77941726	77941726	+	Nonsense_Mutation	SNP	C	C	T	rs377563788		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr4:77941726C>T	ENST00000264893.6	+	7	1057	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SEPT11_ENST00000505788.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	286	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGAGGACTTGCGAGAGCAGAC	0.493																																						ENST00000264893.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(856-858)Cga>Tga		septin 11							86.0	75.0	79.0					4																	77941726		2203	4300	6503	SO:0001587	stop_gained	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77941726C>T	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.856C>T	4.37:g.77941726C>T	ENSP00000264893:p.Arg286*					SEPT11_ENST00000502584.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.R296*	p.R286*	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN			7	1057	+			286					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Nonsense_Mutation	SNP	ENST00000264893.6	37	c.856C>T	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	C	38	7.212010	0.98139	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	.	.	.	5.44	2.36	0.29203	.	0.091877	0.43919	D	0.000516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6562	0.77136	0.4727:0.5273:0.0:0.0	.	.	.	.	X	286;286;278;286;296;296	.	ENSP00000264893:R286X	R	+	1	2	SEPT11	78160750	0.990000	0.36364	0.879000	0.34478	0.996000	0.88848	0.300000	0.19156	0.624000	0.30286	0.591000	0.81541	CGA		0.493	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		4	15	0	0	0	1	0	4	15				
FBN3	84467	broad.mit.edu	37	19	8156424	8156424	+	Missense_Mutation	SNP	T	T	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr19:8156424T>C	ENST00000600128.1	-	48	6370	c.5956A>G	c.(5956-5958)Acc>Gcc	p.T1986A	FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A|FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A			Q75N90	FBN3_HUMAN	fibrillin 3	1986	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGCTGTTGGTACAGGTGCCA	0.587																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5956-5958)Acc>Gcc		fibrillin 3							114.0	99.0	104.0					19																	8156424		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8156424T>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5956A>G	19.37:g.8156424T>C	ENSP00000470498:p.Thr1986Ala					FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A|FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A	p.T1986A			Q75N90	FBN3_HUMAN			48	6370	-			1986			EGF-like 32; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5956A>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	9.901	1.207006	0.22205	.	.	ENSG00000142449	ENST00000270509	D	0.87412	-2.25	4.45	2.35	0.29111	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.118609	0.56097	U	0.000031	T	0.80803	0.4693	L	0.50919	1.6	0.29032	N	0.885649	B	0.02656	0.0	B	0.10450	0.005	T	0.66874	-0.5813	10	0.25751	T	0.34	.	8.4538	0.32886	0.0:0.163:0.0:0.837	.	1986	Q75N90	FBN3_HUMAN	A	1986	ENSP00000270509:T1986A	ENSP00000270509:T1986A	T	-	1	0	FBN3	8062424	1.000000	0.71417	0.834000	0.33040	0.332000	0.28634	1.849000	0.39318	0.132000	0.18615	-0.250000	0.11733	ACC		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	39	0	0	0	1	0	3	39				
DISP1	84976	broad.mit.edu	37	1	223178296	223178296	+	Missense_Mutation	SNP	A	A	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:223178296A>T	ENST00000284476.6	+	8	3721	c.3557A>T	c.(3556-3558)gAa>gTa	p.E1186V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1186					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCAAAATCTGAACTGGAGCAT	0.458																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3556-3558)gAa>gTa		dispatched homolog 1 (Drosophila)							71.0	76.0	74.0					1																	223178296		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178296A>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3557A>T	1.37:g.223178296A>T	ENSP00000284476:p.Glu1186Val						p.E1186V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3721	+			1186					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3557A>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668847	0.47677	.	.	ENSG00000154309	ENST00000284476	D	0.92495	-3.05	5.75	5.75	0.90469	.	0.229203	0.42682	D	0.000663	D	0.87309	0.6145	L	0.29908	0.895	0.39314	D	0.965136	B	0.28128	0.201	B	0.25140	0.058	D	0.85151	0.0986	10	0.34782	T	0.22	-12.0102	16.0577	0.80817	1.0:0.0:0.0:0.0	.	1186	Q96F81	DISP1_HUMAN	V	1186	ENSP00000284476:E1186V	ENSP00000284476:E1186V	E	+	2	0	DISP1	221244919	1.000000	0.71417	0.034000	0.17996	0.920000	0.55202	6.588000	0.74076	2.197000	0.70478	0.459000	0.35465	GAA		0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	59	0	0	0	1	0	5	59				
MICALL2	79778	broad.mit.edu	37	7	1477839	1477839	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr7:1477839G>A	ENST00000297508.7	-	12	2380	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	MICALL2_ENST00000405088.4_Silent_p.L523L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	735	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTCCGGGGAGAGGTAGTCGG	0.711																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(2203-2205)ctC>ctT		MICAL-like 2							10.0	12.0	12.0					7																	1477839		2174	4271	6445	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1477839G>A	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2205C>T	7.37:g.1477839G>A						MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.L523L	p.L735L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	12	2380	-		Ovarian(82;0.0253)	735					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.2205C>T	CCDS5324.1																																																																																				0.711	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		3	6	0	0	0	1	0	3	6				
GZF1	64412	broad.mit.edu	37	20	23347711	23347711	+	Missense_Mutation	SNP	T	T	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:23347711T>A	ENST00000338121.5	+	3	1513	c.1436T>A	c.(1435-1437)aTt>aAt	p.I479N	GZF1_ENST00000461789.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	479					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACATGCTGATTTATCATAAA	0.353																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1435-1437)aTt>aAt		GDNF-inducible zinc finger protein 1							131.0	114.0	120.0					20																	23347711		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23347711T>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1436T>A	20.37:g.23347711T>A	ENSP00000338290:p.Ile479Asn					GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000461789.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N|GZF1_ENST00000542987.1_Intron	p.I479N			Q9H116	GZF1_HUMAN			3	1513	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		479					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1436T>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.813723	0.70912	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000377051	T;T;T	0.37915	2.37;1.17;1.17	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207913	0.30118	N	0.010374	T	0.29976	0.0750	N	0.05574	-0.02	0.80722	D	1	P	0.51147	0.942	P	0.50490	0.642	T	0.22312	-1.0220	10	0.49607	T	0.09	.	14.5729	0.68224	0.0:0.0:0.0:1.0	.	479	Q9H116	GZF1_HUMAN	N	3;479;479	ENSP00000445458:I3N;ENSP00000338290:I479N;ENSP00000366250:I479N	ENSP00000338290:I479N	I	+	2	0	GZF1	23295711	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.567000	0.67378	2.047000	0.60756	0.528000	0.53228	ATT		0.353	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		4	33	0	0	0	1	0	4	33				
CIRH1A	84916	broad.mit.edu	37	16	69194305	69194305	+	Silent	SNP	T	T	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr16:69194305T>C	ENST00000314423.7	+	13	1668	c.1491T>C	c.(1489-1491)aaT>aaC	p.N497N	CIRH1A_ENST00000352319.4_Silent_p.N382N|CIRH1A_ENST00000563094.1_Silent_p.N497N			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	497					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAGATGGGAATTGGCTAGCTG	0.473																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1489-1491)aaT>aaC		cirrhosis, autosomal recessive 1A (cirhin)							291.0	257.0	268.0					16																	69194305		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69194305T>C	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1491T>C	16.37:g.69194305T>C						CIRH1A_ENST00000352319.4_Silent_p.N382N|CIRH1A_ENST00000314423.7_Silent_p.N497N	p.N497N			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	13	1525	+			497					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.1491T>C	CCDS10872.1																																																																																				0.473	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		12	77	0	0	0	1	0	12	77				
ZNF512	84450	broad.mit.edu	37	2	27838080	27838080	+	Missense_Mutation	SNP	C	C	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:27838080C>G	ENST00000355467.4	+	11	1260	c.1177C>G	c.(1177-1179)Cta>Gta	p.L393V	ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V|ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CCAGGAAGTACTACATAAATG	0.358																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1177-1179)Cta>Gta		zinc finger protein 512							188.0	181.0	183.0					2																	27838080		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838080C>G	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1177C>G	2.37:g.27838080C>G	ENSP00000347648:p.Leu393Val					ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V|ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V	p.L393V			Q96ME7	ZN512_HUMAN			11	1260	+	Acute lymphoblastic leukemia(172;0.155)		393					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.1177C>G	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607667	0.66558	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	6.03	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.67477	0.2897	M	0.62723	1.935	0.42771	D	0.993834	D;D;D	0.69078	0.993;0.997;0.997	D;D;D	0.78314	0.987;0.991;0.991	T	0.63769	-0.6562	9	0.25106	T	0.35	-10.7102	8.7121	0.34389	0.0:0.7666:0.0:0.2334	.	288;364;393	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	V	392;393;262;364;316	.	ENSP00000347648:L393V	L	+	1	2	ZNF512	27691584	0.996000	0.38824	0.396000	0.26296	0.923000	0.55619	2.342000	0.43992	0.892000	0.36259	-0.126000	0.14955	CTA		0.358	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		3	62	0	0	0	1	0	3	62				
FNTA	2339	broad.mit.edu	37	8	42932435	42932435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr8:42932435G>A	ENST00000302279.3	+	6	904	c.710G>A	c.(709-711)tGg>tAg	p.W237*	RP11-598P20.5_ENST00000534420.1_Nonsense_Mutation_p.W194*|FNTA_ENST00000529687.1_Nonsense_Mutation_p.W86*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.W170*	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	237					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AACTCTGTCTGGAACCAAAGA	0.378																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(256-258)tGg>tAg		farnesyltransferase, CAAX box, alpha							122.0	113.0	116.0					8																	42932435		2203	4300	6503	SO:0001587	stop_gained	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42932435G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.710G>A	8.37:g.42932435G>A	ENSP00000303423:p.Trp237*					RP11-598P20.5_ENST00000534420.1_Nonsense_Mutation_p.194_194ins*|FNTA_ENST00000302279.3_Nonsense_Mutation_p.W237*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.W170*	p.W86*			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		6	1145	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	237					A6NJW0|Q53XJ9|Q9UDC1	Nonsense_Mutation	SNP	ENST00000302279.3	37	c.257G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146566	0.94603	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000533336	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5519	16.8961	0.86101	0.0:0.0:1.0:0.0	.	.	.	.	X	194;237;170;175	.	ENSP00000303423:W237X	W	+	2	0	FNTA;RP11-598P20.5	43051592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.773000	0.98989	2.579000	0.87056	0.650000	0.86243	TGG		0.378	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		3	50	0	0	0	1	0	3	50				
RBM12	10137	broad.mit.edu	37	20	34242229	34242229	+	Missense_Mutation	SNP	A	A	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:34242229A>G	ENST00000374114.3	-	3	1279	c.1016T>C	c.(1015-1017)gTa>gCa	p.V339A	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	339	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATTTCGACCTACATGATCTTT	0.403																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1015-1017)gTa>gCa		RNA binding motif protein 12							126.0	123.0	124.0					20																	34242229		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242229A>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1016T>C	20.37:g.34242229A>G	ENSP00000363228:p.Val339Ala					RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron	p.V339A	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1279	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		339			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1016T>C	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	A	4.511	0.094793	0.08681	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.28069	1.63;1.63;1.63	4.92	3.83	0.44106	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.186139	0.37483	N	0.002073	T	0.12390	0.0301	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.09015	-1.0694	10	0.10377	T	0.69	-3.1411	10.4589	0.44567	0.9243:0.0:0.0757:0.0	.	339	Q9NTZ6	RBM12_HUMAN	A	339;339;339;138	ENSP00000363228:V339A;ENSP00000352668:V339A;ENSP00000363217:V339A	ENSP00000339879:V138A	V	-	2	0	RBM12	33705643	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	5.458000	0.66679	0.931000	0.37242	0.449000	0.29647	GTA		0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	83	0	0	0	1	0	4	83				
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr11:47599133C>T	ENST00000526005.1	-	2	572	c.419G>A	c.(418-420)cGc>cAc	p.R140H	KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R165H|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000529276.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140								p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517																																						ENST00000533290.1																			2	Substitution - Missense(2)	p.R140H(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(493-495)cGc>cAc		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599133		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599133C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.419G>A	11.37:g.47599133C>T	ENSP00000433340:p.Arg140His					KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron	p.R165H			Q9NVX7	KBTB4_HUMAN			1	1208	-			140			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.494G>A	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836560|4.836560	0.91117|0.91117	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000359900|ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	.|T;T;T;T;T;T;T;T;T	.|0.73047	.|-0.64;-0.71;-0.64;-0.7;-0.57;-0.57;-0.57;-0.57;-0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.995;0.995	D|D	0.83844|0.83844	0.0259|0.0259	6|10	0.02654|0.72032	T|D	1|0.01	-17.6736|-17.6736	19.1652|19.1652	0.93553|0.93553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;140;165	.|Q9NVX7-2;Q9NVX7;B3KRH9	.|.;KBTB4_HUMAN;.	T|H	155|140;165;140;156;189;140;140;140;165	.|ENSP00000433340:R140H;ENSP00000436713:R165H;ENSP00000378703:R140H;ENSP00000415106:R156H;ENSP00000434477:R189H;ENSP00000433404:R140H;ENSP00000433653:R140H;ENSP00000435651:R140H;ENSP00000433124:R165H	ENSP00000352971:A155T|ENSP00000378703:R140H	A|R	-|-	1|2	0|0	KBTBD4|KBTBD4	47555709|47555709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.520000|2.520000	0.84964|0.84964	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		4	111	0	0	0	1	0	4	111				
LYST	1130	broad.mit.edu	37	1	235933474	235933482	+	In_Frame_Del	DEL	AAGTCAGTA	AAGTCAGTA	-			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:235933474_235933482delAAGTCAGTA	ENST00000389794.3	-	20	6074_6082	c.5900_5908delTACTGACTT	c.(5899-5910)ctactgacttgt>cgt	p.1967_1970LLTC>R	LYST_ENST00000389793.2_In_Frame_Del_p.1967_1970LLTC>R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1967					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L1968L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAACCTGACAAGTCAGTAGAAAGTGATG	0.354																																						ENST00000389794.3																			1	Substitution - coding silent(1)	p.L1968L(1)	lung(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5899-5910)cgt>c		lysosomal trafficking regulator																																				SO:0001651	inframe_deletion	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235933474_235933482delAAGTCAGTA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5900_5908delTACTGACTT	1.37:g.235933474_235933482delAAGTCAGTA	ENSP00000374444:p.Leu1967_Cys1970delinsArg					LYST_ENST00000389793.2_In_Frame_Del_p.LLTC1967del|LYST_ENST00000536965.1_3'UTR	p.LLTC1967del			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		20	6074_6082	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1967					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	In_Frame_Del	DEL	ENST00000389794.3	37	c.5900_5908delTACTGACTT	CCDS31062.1																																																																																				0.354	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	108						7	108	---	---	---	---
RP11-93K22.13	0	broad.mit.edu	37	3	129811873	129811875	+	lincRNA	DEL	AAA	AAA	-	rs561529908|rs71158104	byFrequency	TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr3:129811873_129811875delAAA	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							agtctgtcagaaaaaaaaaaaaa	0.384														2938	0.586661	0.4939	0.647	5008	,	,		14569	0.4583		0.7565	False		,,,				2504	0.6268					ENST00000514010.1																			0																																																			0							g.chr3:129811873_129811875delAAA																													3.37:g.129811882_129811884delAAA						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	DEL	ENST00000514010.1	37																																																																																						0.384	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			3	5						3	5	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44151656	44151656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:44151656delC	ENST00000398776.1	+	23	2245	c.2207delC	c.(2206-2208)accfs	p.T736fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.T736fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	736	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCAGATGACCATGTGGGGA	0.637																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(2206-2208)acfs		calpain 11							18.0	20.0	19.0					6																	44151656		1956	4109	6065	SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44151656delC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.2207delC	6.37:g.44151656delC	ENSP00000381758:p.Thr736fs					CAPN11_ENST00000398776.1_Frame_Shift_Del_p.T736fs	p.T736fs			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		23	2245	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		736			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Del	DEL	ENST00000398776.1	37	c.2207delC	CCDS47436.1																																																																																				0.637	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			2	4						2	4	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			3	3						3	3	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			0							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
ACTR5	79913	broad.mit.edu	37	20	37400246	37400246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:37400246delT	ENST00000243903.4	+	9	1648	c.1611delT	c.(1609-1611)gctfs	p.A537fs		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	537					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGTACGGTGCTCGTGACTGGG	0.507																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1609-1611)gcfs		ARP5 actin-related protein 5 homolog (yeast)							124.0	103.0	110.0					20																	37400246		2203	4300	6503	SO:0001589	frameshift_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37400246delT	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1611delT	20.37:g.37400246delT	ENSP00000243903:p.Ala537fs						p.A537fs	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			9	1648	+		Myeloproliferative disorder(115;0.00878)	537					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Frame_Shift_Del	DEL	ENST00000243903.4	37	c.1611delT	CCDS13308.1																																																																																				0.507	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		10	90						10	90	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44918544	44918545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:44918544_44918545insG	ENST00000377967.4	+	12	1068_1069	c.1027_1028insG	c.(1027-1029)tgtfs	p.C343fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	343	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGCCTATATTTGTGCTGTACAA	0.436			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1027-1029)tgcfs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918544_44918545insG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1028dupG	X.37:g.44918545_44918545dupG	ENSP00000367203:p.Cys343fs					KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs	p.C343fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			12	1068_1069	+			343					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.1027_1028insG	CCDS14265.1																																																																																				0.436	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		8	16						8	16	---	---	---	---
