#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
AFF1	4299	broad.mit.edu	37	4	88029355	88029355	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:88029355G>A	ENST00000307808.6	+	10	1820	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	AFF1_ENST00000395146.4_Missense_Mutation_p.S474N|AFF1_ENST00000544085.1_Missense_Mutation_p.S105N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	467					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCACATTCCAGCAGTGCAGAG	0.483																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1399-1401)aGc>aAc		AF4/FMR2 family, member 1							116.0	104.0	108.0					4																	88029355		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029355G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1400G>A	4.37:g.88029355G>A	ENSP00000305689:p.Ser467Asn					AFF1_ENST00000395146.4_Missense_Mutation_p.S474N|AFF1_ENST00000544085.1_Missense_Mutation_p.S105N	p.S467N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1820	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	467					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1400G>A	CCDS3616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.147913|3.147913	0.57151|0.57151	.|.	.|.	ENSG00000172493|ENSG00000172493	ENST00000541943|ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	.|T;T;T;T;T	.|0.66815	.|-0.23;-0.23;-0.23;-0.23;-0.23	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.328596	.|0.34067	.|N	.|0.004297	T|T	0.73783|0.73783	0.3631|0.3631	M|M	0.65975|0.65975	2.015|2.015	0.45015|0.45015	D|D	0.998036|0.998036	.|P;P;P	.|0.51537	.|0.946;0.946;0.946	.|P;P;P	.|0.54210	.|0.745;0.745;0.745	T|T	0.70200|0.70200	-0.4937|-0.4937	6|10	0.15499|0.26408	T|T	0.54|0.33	-5.2966|-5.2966	14.9868|14.9868	0.71353|0.71353	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	.|474;467;467	.|E9PBM3;Q14C88;P51825	.|.;.;AFF1_HUMAN	T|N	127|474;467;105;105;158	.|ENSP00000378578:S474N;ENSP00000305689:S467N;ENSP00000424766:S105N;ENSP00000440843:S105N;ENSP00000424881:S158N	ENSP00000446349:A127T|ENSP00000305689:S467N	A|S	+|+	1|2	0|0	AFF1|AFF1	88248379|88248379	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.965000|0.965000	0.64279|0.64279	6.775000|6.775000	0.75018|0.75018	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.483	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		3	81	0	0	0	1	0	3	81				
PRDM9	56979	broad.mit.edu	37	5	23527460	23527460	+	Missense_Mutation	SNP	C	C	T	rs375086019		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:23527460C>T	ENST00000296682.3	+	11	2445	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTCG	0.582										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2263-2265)Cgg>Tgg		PR domain containing 9		C	TRP/ARG	0,4220		0,0,2110	52.0	74.0	67.0		2263	0.6	0.7	5		67	2,8584		0,2,4291	no	missense	PRDM9	NM_020227.2	101	0,2,6401	TT,TC,CC		0.0233,0.0,0.0156	probably-damaging	755/895	23527460	2,12804	2110	4293	6403	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527460C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2263C>T	5.37:g.23527460C>T	ENSP00000296682:p.Arg755Trp	HNSCC(3;0.000094)					p.R755W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2445	+			755					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2263C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945239	0.18356	0.0	2.33E-4	ENSG00000164256	ENST00000296682	T	0.19806	2.12	2.65	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38268	0.1034	M	0.78916	2.43	0.26567	N	0.973634	D	0.76494	0.999	P	0.58928	0.848	T	0.18650	-1.0330	9	0.87932	D	0	.	8.0201	0.30404	0.6337:0.3662:0.0:0.0	.	755	Q9NQV7	PRDM9_HUMAN	W	755	ENSP00000296682:R755W	ENSP00000296682:R755W	R	+	1	2	PRDM9	23563217	0.709000	0.27886	0.659000	0.29680	0.016000	0.09150	2.296000	0.43584	0.125000	0.18397	-0.516000	0.04426	CGG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	154	0	0	0	1	0	10	154				
LRP2	4036	broad.mit.edu	37	2	170062576	170062576	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:170062576G>A	ENST00000263816.3	-	40	7798	c.7513C>T	c.(7513-7515)Cgc>Tgc	p.R2505C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2505S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTGGAACGCGGGCTATCACA	0.423																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.R2505S(1)	lung(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7513-7515)Cgc>Tgc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						157.0	151.0	153.0					2																	170062576		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062576G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7513C>T	2.37:g.170062576G>A	ENSP00000263816:p.Arg2505Cys						p.R2505C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7798	-			2505					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7513C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948338	0.92593	.	.	ENSG00000081479	ENST00000263816	D	0.93859	-3.3	6.17	5.3	0.74995	Six-bladed beta-propeller, TolB-like (1);	0.296236	0.43260	D	0.000584	D	0.93609	0.7959	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	P	0.49999	0.628	D	0.93947	0.7228	10	0.72032	D	0.01	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	2505	P98164	LRP2_HUMAN	C	2505	ENSP00000263816:R2505C	ENSP00000263816:R2505C	R	-	1	0	LRP2	169770822	1.000000	0.71417	0.923000	0.36655	0.885000	0.51271	5.669000	0.68081	1.620000	0.50308	0.655000	0.94253	CGC		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		64	107	0	0	0	1	0	64	107				
NLRP12	91662	broad.mit.edu	37	19	54308673	54308673	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54308673A>G	ENST00000324134.6	-	5	2443	c.2275T>C	c.(2275-2277)Tgc>Cgc	p.C759R	NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	759					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTCGCAGGCTGAGCTG	0.498																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2275-2277)Tgc>Cgc		NLR family, pyrin domain containing 12							91.0	91.0	91.0					19																	54308673		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308673A>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2275T>C	19.37:g.54308673A>G	ENSP00000319377:p.Cys759Arg					NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R	p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2443	-	Ovarian(34;0.19)		759					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2275T>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176982	0.57692	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	3.32	3.32	0.38043	.	.	.	.	.	T	0.73822	0.3636	H	0.95982	3.75	0.53688	D	0.999979	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.949;0.999;0.999;0.999	T	0.76247	-0.3029	9	0.38643	T	0.18	.	8.3282	0.32169	1.0:0.0:0.0:0.0	.	760;42;759;759;759	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	R	759;759;759;759;42;759;760;760;760	ENSP00000319377:C759R;ENSP00000438030:C759R;ENSP00000340473:C759R;ENSP00000346231:C759R;ENSP00000375655:C759R;ENSP00000375653:C760R;ENSP00000375652:C760R	ENSP00000319377:C759R	C	-	1	0	NLRP12	59000485	1.000000	0.71417	0.066000	0.19879	0.310000	0.27922	4.234000	0.58658	1.543000	0.49345	0.241000	0.17934	TGC		0.498	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		3	103	0	0	0	1	0	3	103				
CNOT3	4849	broad.mit.edu	37	19	54652183	54652183	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54652183G>A	ENST00000406403.1	+	10	2798	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	CNOT3_ENST00000358389.3_Missense_Mutation_p.G218R|CNOT3_ENST00000221232.5_Missense_Mutation_p.G399R			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	399	Gly/Ser-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TAgcggaggcggaggcggcgg	0.716																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1195-1197)Gga>Aga		CCR4-NOT transcription complex, subunit 3							6.0	7.0	7.0					19																	54652183		2030	3991	6021	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54652183G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1195G>A	19.37:g.54652183G>A	ENSP00000383954:p.Gly399Arg					CNOT3_ENST00000358389.3_Missense_Mutation_p.G218R|CNOT3_ENST00000221232.5_Missense_Mutation_p.G399R	p.G399R			O75175	CNOT3_HUMAN			10	2798	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		399			Gly/Ser-rich.		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.1195G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	g	5.562	0.288524	0.10513	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;D;T	0.81908	0.96;-1.55;0.96	0.744	0.744	0.18353	.	1.146510	0.06484	N	0.733306	T	0.63212	0.2492	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.002;0.004;0.008	B;B;B	0.01281	0.0;0.0;0.0	T	0.51284	-0.8725	10	0.26408	T	0.33	-1.4779	3.0918	0.06296	0.3131:0.0:0.6869:0.0	.	399;399;323	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	R	399;218;399	ENSP00000221232:G399R;ENSP00000351159:G218R;ENSP00000383954:G399R	ENSP00000221232:G399R	G	+	1	0	CNOT3	59343995	0.848000	0.29623	0.006000	0.13384	0.007000	0.05969	1.309000	0.33539	0.718000	0.32166	0.473000	0.43528	GGA		0.716	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		9	14	0	0	0	1	0	9	14				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			3	79	0	0	0	1	0	3	79				
NLRP8	126205	broad.mit.edu	37	19	56466879	56466879	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:56466879C>T	ENST00000291971.3	+	3	1526	c.1455C>T	c.(1453-1455)acC>acT	p.T485T	NLRP8_ENST00000590542.1_Silent_p.T485T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	485	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGGAGTCACCGCCTTCCTTG	0.488																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1453-1455)acC>acT		NLR family, pyrin domain containing 8							166.0	149.0	155.0					19																	56466879		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466879C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1455C>T	19.37:g.56466879C>T						NLRP8_ENST00000590542.1_Silent_p.T485T	p.T485T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1526	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	485			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.1455C>T	CCDS12937.1																																																																																				0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		63	80	0	0	0	1	0	63	80				
PXYLP1	92370	broad.mit.edu	37	3	141011230	141011230	+	Missense_Mutation	SNP	G	G	A	rs570216740		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr3:141011230G>A	ENST00000286353.4	+	6	763	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ACPL2_ENST00000502783.1_Missense_Mutation_p.R171Q|ACPL2_ENST00000508812.1_Missense_Mutation_p.R200Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R193Q|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.R209Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R192Q	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		209						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GGGAAAAGCCGGACCCTACAA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20416	0.0		0.0	False		,,,				2504	0.0					ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(598-600)cGg>cAg		acid phosphatase-like 2							62.0	65.0	64.0					3																	141011230		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011230G>A																												ENST00000286353.4:c.626G>A	3.37:g.141011230G>A	ENSP00000286353:p.Arg209Gln					ACPL2_ENST00000502783.1_Missense_Mutation_p.R171Q|ACPL2_ENST00000393010.2_Missense_Mutation_p.R209Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R193Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R192Q|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.R209Q	p.R200Q			Q8TE99	ACPL2_HUMAN			5	2506	+			209					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.599G>A	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171031	0.94807	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93203	0.6593	10	0.66056	D	0.02	.	17.491	0.87703	0.0:0.0:1.0:0.0	.	192;209	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	Q	209;171;209;192;200;193;17	ENSP00000286353:R209Q;ENSP00000422558:R171Q;ENSP00000376733:R209Q;ENSP00000426877:R192Q;ENSP00000422901:R200Q;ENSP00000376731:R193Q	ENSP00000286353:R209Q	R	+	2	0	ACPL2	142493920	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.630000	0.98420	2.793000	0.96121	0.655000	0.94253	CGG		0.483	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			3	65	0	0	0	1	0	3	65				
THRAP3	9967	broad.mit.edu	37	1	36769470	36769470	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:36769470G>A	ENST00000354618.5	+	12	2944	c.2720G>A	c.(2719-2721)gGt>gAt	p.G907D	SH3D21_ENST00000426732.2_5'Flank|SH3D21_ENST00000453908.2_5'Flank|THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	907	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCTCGGGGTCGGGGCCGG	0.597			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2719-2721)gGt>gAt		thyroid hormone receptor associated protein 3							50.0	56.0	54.0					1																	36769470		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36769470G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2720G>A	1.37:g.36769470G>A	ENSP00000346634:p.Gly907Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			12	2944	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	907					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2720G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876029	0.51695	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15834	2.39;2.39	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000003	T	0.21841	0.0526	L	0.35854	1.095	0.48040	D	0.999577	B	0.31209	0.313	B	0.39706	0.307	T	0.07539	-1.0767	10	0.87932	D	0	-6.5844	17.3199	0.87233	0.0:0.0:1.0:0.0	.	907	Q9Y2W1	TR150_HUMAN	D	907	ENSP00000346634:G907D;ENSP00000433825:G907D	ENSP00000346634:G907D	G	+	2	0	THRAP3	36542057	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	6.983000	0.76180	2.411000	0.81874	0.563000	0.77884	GGT		0.597	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		12	74	0	0	0	1	0	12	74				
ALPK2	115701	broad.mit.edu	37	18	56246187	56246187	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:56246187C>T	ENST00000361673.3	-	4	2034	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	607						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGCTCTGCCTGGGTTGAAA	0.458											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1819-1821)caG>caA		alpha-kinase 2							176.0	157.0	163.0					18																	56246187		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246187C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1821G>A	18.37:g.56246187C>T			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.Q607Q	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	2034	-			607					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1821G>A	CCDS11966.2																																																																																				0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		37	16	0	0	0	1	0	37	16				
KRT33A	3883	broad.mit.edu	37	17	39502452	39502452	+	Silent	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:39502452A>G	ENST00000007735.3	-	7	1178	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	378	Tail.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGACTTGTCACATGCATTGG	0.522																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1132-1134)tgT>tgC		keratin 33A							120.0	111.0	114.0					17																	39502452		2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502452A>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1134T>C	17.37:g.39502452A>G							p.C378C	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			7	1178	-		Breast(137;0.000496)	378			Tail.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.1134T>C	CCDS11388.1																																																																																				0.522	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		31	48	0	0	0	1	0	31	48				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	42	0	0	0	1	0	3	42				
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1			keratin 25									p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562																																						ENST00000312150.4																			2	Substitution - coding silent(2)	p.A339A(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gcG>gcA		keratin 25							139.0	141.0	140.0					17																	38906790		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906790C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1017G>A	17.37:g.38906790C>T							p.A339A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1077	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1017G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		10	219	0	0	0	1	0	10	219				
TTN	7273	broad.mit.edu	37	2	179438180	179438180	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:179438180T>G	ENST00000591111.1	-	276	67980	c.67756A>C	c.(67756-67758)Aaa>Caa	p.K22586Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K24227Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22586	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGGTTTTTGGGCGGATCA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72679-72681)Aaa>Caa		titin							93.0	93.0	93.0					2																	179438180		1902	4122	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438180T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67756A>C	2.37:g.179438180T>G	ENSP00000465570:p.Lys22586Gln					TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000592600.1_RNA	p.K24227Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72903	-			22586			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72679A>C		.	.	.	.	.	.	.	.	.	.	T	9.973	1.226144	0.22542	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.08	3.63	0.41609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28632	0.0709	N	0.02765	-0.5	0.31418	N	0.674658	B;B;B;B	0.16166	0.016;0.016;0.016;0.016	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.24190	-1.0167	9	0.87932	D	0	.	9.4332	0.38624	0.0:0.0632:0.1221:0.8146	.	15162;15287;15354;22586	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	21659;15162;15354;15287;15160	ENSP00000343764:K21659Q;ENSP00000434586:K15162Q;ENSP00000340554:K15354Q;ENSP00000352154:K15287Q	ENSP00000340554:K15354Q	K	-	1	0	TTN	179146426	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.667000	0.46808	0.498000	0.27948	0.533000	0.62120	AAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	114	0	0	0	1	0	3	114				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	29	0	0	0	1	0	3	29				
BCL9	607	broad.mit.edu	37	1	147084929	147084929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:147084929C>T	ENST00000234739.3	+	5	1041	c.301C>T	c.(301-303)Cga>Tga	p.R101*	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	101					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAAAGGGAGCGAAGTATTTC	0.532			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(301-303)Cga>Tga		B-cell CLL/lymphoma 9							49.0	54.0	52.0					1																	147084929		2203	4300	6503	SO:0001587	stop_gained	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084929C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.301C>T	1.37:g.147084929C>T	ENSP00000234739:p.Arg101*					BCL9_ENST00000473292.1_Intron	p.R101*	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	1041	+	all_hematologic(923;0.115)		101					Q5T489	Nonsense_Mutation	SNP	ENST00000234739.3	37	c.301C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	43	10.475636	0.99412	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.4	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4576	11.3705	0.49697	0.3448:0.6552:0.0:0.0	.	.	.	.	X	101	.	ENSP00000234739:R101X	R	+	1	2	BCL9	145551553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.131000	0.64751	2.797000	0.96272	0.655000	0.94253	CGA		0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	77	0	0	0	1	0	4	77				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	109	0	0	0	1	0	5	109				
CD46	4179	broad.mit.edu	37	1	207930436	207930436	+	Silent	SNP	C	C	A	rs121909590		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:207930436C>A	ENST00000358170.2	+	2	331	c.175C>A	c.(175-177)Cga>Aga	p.R59R	CD46_ENST00000480003.1_Silent_p.R59R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Silent_p.R59R|CD46_ENST00000367042.1_Silent_p.R59R|CD46_ENST00000322875.4_Silent_p.R59R|CD46_ENST00000361067.1_Silent_p.R59R|CD46_ENST00000367047.1_Intron|CD46_ENST00000357714.1_Silent_p.R59R|CD46_ENST00000360212.2_Silent_p.R59R|CD46_ENST00000441839.2_Silent_p.R59R|CD46_ENST00000367041.1_Silent_p.R59R|CD46_ENST00000354848.1_Silent_p.R59R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	59	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> Q. {ECO:0000269|PubMed:10751138}.		adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATTGGTGAACGAGTAGATTA	0.408																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19	GRCh37	CM062495	CD46	M	rs121909590	c.(175-177)Cga>Aga		CD46 molecule, complement regulatory protein							108.0	105.0	106.0					1																	207930436		2203	4300	6503	SO:0001819	synonymous_variant	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930436C>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.175C>A	1.37:g.207930436C>A						CD46_ENST00000322875.4_Silent_p.R59R|CD46_ENST00000441839.2_Silent_p.R59R|CD46_ENST00000367041.1_Silent_p.R59R|CD46_ENST00000322918.5_Silent_p.R59R|CD46_ENST00000480003.1_Silent_p.R59R|CD46_ENST00000367042.1_Silent_p.R59R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Silent_p.R59R|CD46_ENST00000360212.2_Silent_p.R59R|CD46_ENST00000357714.1_Silent_p.R59R|CD46_ENST00000354848.1_Silent_p.R59R|CD46_ENST00000367047.1_Intron	p.R59R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			2	331	+			59		R -> Q.	Sushi 1.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	ENST00000358170.2	37	c.175C>A	CCDS1485.1																																																																																				0.408	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		24	79	1	0	5.35047e-06	1	5.94497e-06	24	79				
VSTM4	196740	broad.mit.edu	37	10	50256602	50256602	+	Silent	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr10:50256602G>A	ENST00000332853.4	-	6	719	c.696C>T	c.(694-696)acC>acT	p.T232T		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGGCCAAGCTGGTCACGCTAG	0.502																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(694-696)acC>acT		V-set and transmembrane domain containing 4							82.0	72.0	76.0					10																	50256602		2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50256602G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.696C>T	10.37:g.50256602G>A							p.T232T	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			6	719	-			232					B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.696C>T	CCDS31198.1																																																																																				0.502	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		3	79	0	0	0	1	0	3	79				
MLXIP	22877	broad.mit.edu	37	12	122613718	122613718	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:122613718G>T	ENST00000319080.7	+	4	773	c.641G>T	c.(640-642)cGc>cTc	p.R214L						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGGAAGAGCCGCATCGAGATT	0.547																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(640-642)cGc>cTc		MLX interacting protein							47.0	51.0	50.0					12																	122613718		1957	4147	6104	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122613718G>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.641G>T	12.37:g.122613718G>T	ENSP00000312834:p.Arg214Leu						p.R214L			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	4	773	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	214			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.641G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.772968	0.96922	.	.	ENSG00000175727	ENST00000319080	T	0.31247	1.5	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63598	-0.6601	9	0.72032	D	0.01	-22.044	19.0783	0.93171	0.0:0.0:1.0:0.0	.	214	Q9HAP2	MLXIP_HUMAN	L	214	ENSP00000312834:R214L	ENSP00000312834:R214L	R	+	2	0	MLXIP	121179672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.776000	0.99001	2.504000	0.84457	0.655000	0.94253	CGC		0.547	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		3	21	1	0	0.00024832	1	0.000270895	3	21				
OTUD7A	161725	broad.mit.edu	37	15	31776773	31776773	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:31776773C>T	ENST00000307050.4	-	11	1597	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R509H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	502					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		cttctccttgcgctgcttctc	0.587																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1525-1527)cGc>cAc		OTU domain containing 7A							94.0	69.0	77.0					15																	31776773		2200	4300	6500	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776773C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1505G>A	15.37:g.31776773C>T	ENSP00000305926:p.Arg502His					OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H	p.R509H			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1618	-		all_lung(180;1.6e-09)	502					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1526G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216917	0.79352	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32515	1.45;1.45	4.88	4.88	0.63580	.	0.100526	0.64402	D	0.000011	T	0.43211	0.1237	N	0.22421	0.69	0.41016	D	0.985044	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.41556	-0.9502	10	0.44086	T	0.13	-24.4531	18.0667	0.89392	0.0:1.0:0.0:0.0	.	509;502	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	502;509	ENSP00000305926:R502H;ENSP00000372358:R509H	ENSP00000305926:R502H	R	-	2	0	OTUD7A	29564065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	2.241000	0.73720	0.650000	0.86243	CGC		0.587	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		5	13	0	0	0	1	0	5	13				
NPTX2	4885	broad.mit.edu	37	7	98254301	98254301	+	Silent	SNP	C	C	T	rs573416055		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19245	0.0		0.001	False		,,,				2504	0.0					ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(709-711)taC>taT		neuronal pentraxin II							222.0	177.0	192.0					7																	98254301		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254301C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>T	7.37:g.98254301C>T							p.Y237Y	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	876	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		237			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.711C>T	CCDS5657.1																																																																																				0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		78	104	0	0	0	1	0	78	104				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	42	0	0	0	1	0	3	42				
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G	rs201001946		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652																																						ENST00000557932.1																			3	Substitution - Missense(3)	p.L386V(3)	prostate(2)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515335C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515335C>G														0	1181	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	c	1.538	-0.542507	0.04053	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.125321	0.53938	D	0.000056	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-11.5249	7.9382	0.29941	0.0:1.0:0.0:0.0	.	.	.	.	V	395;386	.	.	L	+	1	2	WASH3P	100332858	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	1.146000	0.31589	0.863000	0.35553	0.184000	0.17185	CTG		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	20	0	0	0	1	0	5	20				
C20orf85	128602	broad.mit.edu	37	20	56726068	56726068	+	Silent	SNP	T	T	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:56726068T>G	ENST00000371168.3	+	1	109	c.48T>G	c.(46-48)ctT>ctG	p.L16L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	16										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GCATGAACCTTGTGGGTCAGG	0.637																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(46-48)ctT>ctG		chromosome 20 open reading frame 85							61.0	59.0	60.0					20																	56726068		2202	4300	6502	SO:0001819	synonymous_variant	128602							g.chr20:56726068T>G	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.48T>G	20.37:g.56726068T>G							p.L16L	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		1	109	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		16						Silent	SNP	ENST00000371168.3	37	c.48T>G	CCDS13465.1																																																																																				0.637	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		7	5	0	0	0	1	0	7	5				
CDH8	1006	broad.mit.edu	37	16	62055221	62055221	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:62055221C>A	ENST00000577390.1	-	2	1041	c.87G>T	c.(85-87)atG>atT	p.M29I	CDH8_ENST00000299345.6_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	29					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(85-87)atG>atT		cadherin 8, type 2							79.0	80.0	79.0					16																	62055221		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055221C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.87G>T	16.37:g.62055221C>A	ENSP00000462701:p.Met29Ile					CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I	p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1041	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	29					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.87G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312150	0.40895	.	.	ENSG00000150394	ENST00000299345	T	0.53640	0.61	6.17	5.21	0.72293	.	0.751666	0.13295	N	0.398703	T	0.41581	0.1165	L	0.36672	1.1	0.31845	N	0.62303	B	0.06786	0.001	B	0.06405	0.002	T	0.41324	-0.9515	10	0.20046	T	0.44	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	29	P55286	CADH8_HUMAN	I	29	ENSP00000299345:M29I	ENSP00000299345:M29I	M	-	3	0	CDH8	60612722	1.000000	0.71417	0.930000	0.37139	0.846000	0.48090	5.521000	0.67086	1.586000	0.49944	0.655000	0.94253	ATG		0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	62	1	0	0.000442599	1	0.000474214	7	62				
PCDHGA1	56114	broad.mit.edu	37	5	140711225	140711225	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:140711225C>T	ENST00000517417.1	+	1	974	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A325V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATGGTGCGGGGCTCATG	0.398																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(973-975)gCg>gTg									67.0	67.0	67.0					5																	140711225		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711225C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.974C>T	5.37:g.140711225C>T	ENSP00000431083:p.Ala325Val					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A325V	p.A325V	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	974	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.974C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942599	0.53079	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01804	4.63;4.63	3.99	3.11	0.35812	Cadherin (5);Cadherin-like (1);	0.508000	0.16286	N	0.221133	T	0.03263	0.0095	M	0.73962	2.25	0.09310	N	0.999993	P;P	0.46987	0.864;0.888	B;B	0.43445	0.295;0.42	T	0.36504	-0.9745	10	0.45353	T	0.12	.	6.3929	0.21597	0.0:0.5333:0.3578:0.1088	.	325;325	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	325	ENSP00000431083:A325V;ENSP00000367345:A325V	ENSP00000367345:A325V	A	+	2	0	PCDHGA1	140691409	0.332000	0.24722	0.995000	0.50966	0.796000	0.44982	2.060000	0.41394	2.237000	0.73441	0.650000	0.86243	GCG		0.398	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		20	44	0	0	0	1	0	20	44				
TARS2	80222	broad.mit.edu	37	1	150471026	150471026	+	Silent	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:150471026A>G	ENST00000369064.3	+	11	1321	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Silent_p.R347R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	429					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCCTGCGACTAGCTGACT	0.647																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1285-1287)cgA>cgG		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						53.0	55.0	54.0					1																	150471026		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471026A>G	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1287A>G	1.37:g.150471026A>G						TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R	p.R429R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1321	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		429					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1287A>G	CCDS952.1																																																																																				0.647	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	84	0	0	0	1	0	5	84				
HHIP	64399	broad.mit.edu	37	4	145567943	145567943	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:145567943G>A	ENST00000296575.3	+	1	771	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	HHIP-AS1_ENST00000503066.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y|HHIP-AS1_ENST00000508269.1_RNA|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	39	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.C39Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGGAGAAGGTGCCTGAATGGG	0.577																																						ENST00000296575.3																			1	Substitution - Missense(1)	p.C39Y(1)	lung(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(115-117)tGc>tAc		hedgehog interacting protein							85.0	93.0	90.0					4																	145567943		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567943G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.116G>A	4.37:g.145567943G>A	ENSP00000296575:p.Cys39Tyr					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y	p.C39Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	771	+	all_hematologic(180;0.151)		39			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.116G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624803	0.46840	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	D;D	0.95482	-3.72;-3.72	5.11	5.11	0.69529	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.62723	1.935	0.80722	D	1	D;P	0.76494	0.999;0.756	D;P	0.87578	0.998;0.59	D	0.98041	1.0382	10	0.87932	D	0	-11.1237	18.5565	0.91086	0.0:0.0:1.0:0.0	.	39;39	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Y	39	ENSP00000296575:C39Y;ENSP00000408587:C39Y	ENSP00000296575:C39Y	C	+	2	0	HHIP	145787393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.162000	0.89657	2.373000	0.80994	0.650000	0.86243	TGC		0.577	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			4	59	0	0	0	1	0	4	59				
PLEKHA6	22874	broad.mit.edu	37	1	204228776	204228776	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:204228776T>C	ENST00000272203.3	-	8	933	c.617A>G	c.(616-618)aAg>aGg	p.K206R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	206	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCTCGAGTCTTGGCCTCTGG	0.612																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(616-618)aAg>aGg		pleckstrin homology domain containing, family A member 6							61.0	58.0	59.0					1																	204228776		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228776T>C	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.617A>G	1.37:g.204228776T>C	ENSP00000272203:p.Lys206Arg					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	p.K206R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	933	-	all_cancers(21;0.0222)|Breast(84;0.179)		206			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.617A>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075107	0.36566	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.09723	2.95;3.37	5.55	5.55	0.83447	.	0.410761	0.24904	N	0.034662	T	0.19927	0.0479	L	0.48362	1.52	0.36925	D	0.891575	D	0.58268	0.982	D	0.67548	0.952	T	0.13683	-1.0500	10	0.10111	T	0.7	-38.3033	9.8281	0.40925	0.0:0.0775:0.0:0.9225	.	206	Q9Y2H5	PKHA6_HUMAN	R	206;226	ENSP00000272203:K206R;ENSP00000402046:K226R	ENSP00000272203:K206R	K	-	2	0	PLEKHA6	202495399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.303000	0.51858	2.102000	0.63906	0.459000	0.35465	AAG		0.612	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		42	43	0	0	0	1	0	42	43				
PRKDC	5591	broad.mit.edu	37	8	48801155	48801155	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr8:48801155C>T	ENST00000314191.2	-	35	4390	c.4334G>A	c.(4333-4335)aGc>aAc	p.S1445N	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1445N|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1446					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCCAGCCTGCTCCTGTCCAC	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4333-4335)aGc>aAc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							28.0	30.0	29.0					8																	48801155		1995	4186	6181	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48801155C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4334G>A	8.37:g.48801155C>T	ENSP00000313420:p.Ser1445Asn					PRKDC_ENST00000338368.3_Missense_Mutation_p.S1445N|PRKDC_ENST00000523565.1_5'UTR	p.S1445N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			35	4390	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1446					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4334G>A		.	.	.	.	.	.	.	.	.	.	C	7.480	0.648423	0.14516	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02395	4.38;4.31	5.37	2.58	0.30949	.	0.927300	0.09288	N	0.822705	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.042;0.087	B;B	0.21546	0.035;0.035	T	0.50996	-0.8761	10	0.18276	T	0.48	.	4.7441	0.13029	0.2633:0.3315:0.4052:0.0	.	1445;1446	E7EUY0;P78527	.;PRKDC_HUMAN	N	1445	ENSP00000313420:S1445N;ENSP00000345182:S1445N	ENSP00000313420:S1445N	S	-	2	0	PRKDC	48963708	0.998000	0.40836	0.042000	0.18584	0.154000	0.21943	1.822000	0.39052	0.240000	0.21263	-0.340000	0.08031	AGC		0.473	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	5	0	0	0	1	0	5	5				
IFT43	112752	broad.mit.edu	37	14	76543017	76543017	+	Intron	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr14:76543017C>A	ENST00000314067.6	+	6	329				IFT43_ENST00000238628.6_Missense_Mutation_p.A98D	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGGCTGGCTTCATTGGAA	0.463																																						ENST00000238628.6																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gCt>gAt		intraflagellar transport 43 homolog (Chlamydomonas)							114.0	99.0	104.0					14																	76543017		2203	4300	6503	SO:0001627	intron_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76543017C>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.296-5621C>A	14.37:g.76543017C>A						IFT43_ENST00000314067.6_Intron	p.A98D	NM_052873.2	NP_443105.2	Q96FT9	IFT43_HUMAN			4	298	+			97					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.293C>A	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476872	0.26511	.	.	ENSG00000119650	ENST00000238628	T	0.43688	0.94	3.79	0.864	0.19068	.	0.694352	0.14643	N	0.307049	T	0.19644	0.0472	.	.	.	0.09310	N	0.999997	P	0.36535	0.557	B	0.30105	0.111	T	0.14811	-1.0459	9	0.17369	T	0.5	-12.6066	6.2266	0.20711	0.3632:0.4409:0.1959:0.0	.	98	Q96FT9-2	.	D	98	ENSP00000238628:A98D	ENSP00000238628:A98D	A	+	2	0	IFT43	75612770	0.034000	0.19679	0.001000	0.08648	0.997000	0.91878	0.601000	0.24119	0.182000	0.20032	0.561000	0.74099	GCT		0.463	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		3	46	1	0	1	1	1	3	46				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	110	0	0	0	1	0	5	110				
PUS7L	83448	broad.mit.edu	37	12	44142400	44142400	+	Missense_Mutation	SNP	C	C	A	rs145814117		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:44142400C>A	ENST00000416848.2	-	3	1411	c.923G>T	c.(922-924)cGa>cTa	p.R308L	PUS7L_ENST00000553166.1_Missense_Mutation_p.R308L|PUS7L_ENST00000551923.1_Missense_Mutation_p.R308L|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308L|PUS7L_ENST00000431332.3_5'UTR	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	308					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTCCTTTCGTAGGGTAAA	0.318													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17565	0.0		0.0	False		,,,				2504	0.0					ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(922-924)cGa>cTa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like		C	LEU/ARG,LEU/ARG,LEU/ARG	0,4404		0,0,2202	58.0	57.0	57.0		923,923,923	1.9	1.0	12	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	PUS7L	NM_001098614.1,NM_001098615.1,NM_031292.3	102,102,102	0,3,6499	AA,AC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	308/702,308/702,308/702	44142400	3,13001	2202	4300	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44142400C>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.923G>T	12.37:g.44142400C>A	ENSP00000415899:p.Arg308Leu					PUS7L_ENST00000551923.1_Missense_Mutation_p.R308L|PUS7L_ENST00000431332.3_5'UTR|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308L|PUS7L_ENST00000553166.1_Missense_Mutation_p.R308L	p.R308L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	3	1411	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	308					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.923G>T	CCDS8743.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.99	2.994838	0.54041	0.0	3.49E-4	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.86	1.86	0.25419	Pseudouridine synthase, catalytic domain (1);	0.407015	0.27572	N	0.018780	T	0.37839	0.1018	L	0.45352	1.415	0.80722	D	1	P	0.45212	0.853	P	0.45037	0.467	T	0.09997	-1.0649	10	0.16420	T	0.52	-1.9736	7.7807	0.29064	0.0:0.4599:0.0:0.5401	.	308	Q9H0K6	PUS7L_HUMAN	L	308	ENSP00000415899:R308L;ENSP00000343081:R308L;ENSP00000447706:R308L;ENSP00000446865:R308L	ENSP00000343081:R308L	R	-	2	0	PUS7L	42428667	0.762000	0.28451	0.998000	0.56505	0.996000	0.88848	0.115000	0.15540	0.249000	0.21456	0.563000	0.77884	CGA		0.318	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		3	34	1	0	0.00909568	1	0.00940932	3	34				
PCDHGC3	5098	broad.mit.edu	37	5	140856728	140856728	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:140856728G>A	ENST00000308177.3	+	1	1149	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCCCCGGAGAT	0.552																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1045-1047)Gcc>Acc									68.0	59.0	62.0					5																	140856728		2203	4300	6503	SO:0001583	missense	0							g.chr5:140856728G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1045G>A	5.37:g.140856728G>A	ENSP00000312070:p.Ala349Thr					PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A349T	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1149	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1045G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887955	0.52014	.	.	ENSG00000240184	ENST00000308177	T	0.61627	0.09	5.49	4.63	0.57726	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.60945	0.2308	M	0.80422	2.495	0.29004	N	0.887285	B;B	0.30211	0.009;0.273	B;B	0.26094	0.009;0.066	T	0.61926	-0.6962	9	0.59425	D	0.04	.	14.4647	0.67475	0.0701:0.0:0.9299:0.0	.	349;349	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	T	349	ENSP00000312070:A349T	ENSP00000312070:A349T	A	+	1	0	PCDHGC3	140836912	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.197000	0.51028	1.566000	0.49654	-0.140000	0.14226	GCC		0.552	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		28	32	0	0	0	1	0	28	32				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	10	0	0	0	1	0	2	10				
C7	730	broad.mit.edu	37	5	40958242	40958242	+	Silent	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:40958242T>C	ENST00000313164.9	+	11	1727	c.1368T>C	c.(1366-1368)caT>caC	p.H456H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	456	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ACCCCTGTCATTGCCGGCCTT	0.473																																						ENST00000313164.9																			0											c.(1366-1368)caT>caC		complement component 7							148.0	140.0	143.0					5																	40958242		1913	4119	6032	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958242T>C	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1368T>C	5.37:g.40958242T>C							p.H456H	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			11	1727	+		Ovarian(839;0.0112)	456			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.1368T>C	CCDS47201.1																																																																																				0.473	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	76	0	0	0	1	0	4	76				
KIF16B	55614	broad.mit.edu	37	20	16348168	16348168	+	Intron	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:16348168C>A	ENST00000354981.2	-	22	3656				KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000408042.1_Missense_Mutation_p.V1268F|KIF16B_ENST00000378003.2_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCAGAAGGACTAGCGACTGG	0.483																																						ENST00000408042.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3802-3804)Gtc>Ttc		kinesin family member 16B							104.0	94.0	97.0					20																	16348168		876	1991	2867	SO:0001627	intron_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16348168C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+3062G>T	20.37:g.16348168C>A						KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron	p.V1268F	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN			23	3959	-			0			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3802G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724722	0.48833	.	.	ENSG00000089177	ENST00000408042	T	0.75260	-0.92	5.62	1.39	0.22231	.	0.513957	0.21299	N	0.076834	T	0.60676	0.2287	.	.	.	0.36423	D	0.864419	B	0.13145	0.007	B	0.16722	0.016	T	0.55805	-0.8083	9	0.87932	D	0	.	2.8106	0.05441	0.1222:0.5319:0.1334:0.2125	.	1268	Q96L93-2	.	F	1268	ENSP00000384164:V1268F	ENSP00000384164:V1268F	V	-	1	0	KIF16B	16296168	0.047000	0.20315	0.083000	0.20561	0.601000	0.36947	0.316000	0.19469	0.022000	0.15160	0.544000	0.68410	GTC		0.483	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		22	36	1	0	2.89027e-11	1	3.46832e-11	22	36				
PLXNB2	23654	broad.mit.edu	37	22	50716552	50716552	+	Silent	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr22:50716552T>C	ENST00000449103.1	-	31	5021	c.4881A>G	c.(4879-4881)tcA>tcG	p.S1627S	PLXNB2_ENST00000359337.4_Silent_p.S1627S			O15031	PLXB2_HUMAN	plexin B2	1627					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTTGACTGAGAGCAGCC	0.682																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4879-4881)tcA>tcG		plexin B2							29.0	31.0	30.0					22																	50716552		2119	4228	6347	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716552T>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4881A>G	22.37:g.50716552T>C						PLXNB2_ENST00000359337.4_Silent_p.S1627S	p.S1627S			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	5021	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1627					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4881A>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	0.072	-1.200519	0.01581	.	.	ENSG00000196576	ENST00000399991;ENST00000399964	.	.	.	4.7	-9.4	0.00616	.	0.000000	0.64402	D	0.000002	T	0.49184	0.1542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65606	-0.6127	6	0.72032	D	0.01	.	2.6951	0.05132	0.3161:0.3755:0.154:0.1543	.	.	.	.	G	99;258	.	ENSP00000382845:S258G	S	-	1	0	PLXNB2	49058679	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	-3.125000	0.00593	-3.320000	0.00188	-3.839000	0.00018	AGT		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	43	0	0	0	1	0	4	43				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	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	73	0	0	0	1	0	3	73				
BRCA2	675	broad.mit.edu	37	13	32911291	32911291	+	Silent	SNP	A	A	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr13:32911291A>T	ENST00000380152.3	+	11	3032	c.2799A>T	c.(2797-2799)acA>acT	p.T933T	BRCA2_ENST00000544455.1_Silent_p.T933T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	933	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGGAGACACAGGTGATAAAC	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2797-2799)acA>acT	Homologous recombination	breast cancer 2, early onset							61.0	64.0	63.0					13																	32911291		2203	4297	6500	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911291A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2799A>T	13.37:g.32911291A>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.T933T	p.T933T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3026	+		Lung SC(185;0.0262)	933			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.2799A>T	CCDS9344.1																																																																																				0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		23	39	0	0	0	1	0	23	39				
ASAP2	8853	broad.mit.edu	37	2	9484733	9484733	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:9484733C>T	ENST00000281419.3	+	10	1262	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	ASAP2_ENST00000315273.4_Missense_Mutation_p.R308W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	308	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.R308W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGGGACCGAGCGGAACGGCAG	0.458																																						ENST00000281419.3																			1	Substitution - Missense(1)	p.R308W(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(922-924)Cgg>Tgg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							97.0	90.0	92.0					2																	9484733		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484733C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.922C>T	2.37:g.9484733C>T	ENSP00000281419:p.Arg308Trp					ASAP2_ENST00000315273.4_Missense_Mutation_p.R308W	p.R308W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			10	1262	+			308			PH.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.922C>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475120	0.63737	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.76968	-1.06;-1.06	5.64	3.61	0.41365	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.88848	0.3317	10	0.87932	D	0	.	13.7117	0.62672	0.4415:0.5585:0.0:0.0	.	308;308	O43150-2;O43150	.;ASAP2_HUMAN	W	308	ENSP00000281419:R308W;ENSP00000316404:R308W	ENSP00000281419:R308W	R	+	1	2	ASAP2	9402184	1.000000	0.71417	0.902000	0.35471	0.475000	0.33008	2.430000	0.44766	1.309000	0.44985	0.650000	0.86243	CGG		0.458	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		4	79	0	0	0	1	0	4	79				
TMEM255A	55026	broad.mit.edu	37	X	119419025	119419025	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:119419025G>A	ENST00000309720.5	-	7	664	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	TMEM255A_ENST00000371352.1_Missense_Mutation_p.R17W|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Missense_Mutation_p.R157W	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	181						integral component of membrane (GO:0016021)											GTGTTGCCCCGGATGCGAGGT	0.527																																						ENST00000371369.4																			0											c.(469-471)Cgg>Tgg		transmembrane protein 255A							234.0	185.0	202.0					X																	119419025		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119419025G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.541C>T	X.37:g.119419025G>A	ENSP00000310110:p.Arg181Trp					TMEM255A_ENST00000309720.5_Missense_Mutation_p.R181W|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.R17W	p.R157W	NM_001104544.1	NP_001098014.1					6	695	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.469C>T	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.537595	0.45176	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.53206	0.63;0.63;0.63	4.7	1.53	0.23141	.	0.219563	0.41194	D	0.000932	T	0.51278	0.1665	M	0.68317	2.08	0.80722	D	1	D;B	0.64830	0.994;0.268	P;B	0.49887	0.625;0.023	T	0.57225	-0.7848	10	0.56958	D	0.05	-6.8345	11.3057	0.49334	0.0:0.0:0.4109:0.5891	.	157;181	B1APR4;Q5JRV8	.;FA70A_HUMAN	W	181;157;17	ENSP00000310110:R181W;ENSP00000360420:R157W;ENSP00000360403:R17W	ENSP00000310110:R181W	R	-	1	2	FAM70A	119303053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.534000	0.53568	0.762000	0.33152	0.380000	0.24917	CGG		0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		100	52	0	0	0	1	0	100	52				
GJB5	2709	broad.mit.edu	37	1	35223743	35223743	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:35223743C>T	ENST00000338513.1	+	2	985	c.812C>T	c.(811-813)aCc>aTc	p.T271I	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	271					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GTGAAGAAAACCATCTTGTGA	0.567																																						ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(811-813)aCc>aTc		gap junction protein, beta 5, 31.1kDa							47.0	46.0	47.0					1																	35223743		2203	4300	6503	SO:0001583	missense	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223743C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.812C>T	1.37:g.35223743C>T	ENSP00000340811:p.Thr271Ile						p.T271I	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	985	+		Myeloproliferative disorder(586;0.0393)	271					Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	c.812C>T	CCDS382.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398565	0.62177	.	.	ENSG00000189280	ENST00000338513	D	0.97959	-4.63	5.46	5.46	0.80206	.	0.280531	0.36303	N	0.002662	D	0.98349	0.9452	M	0.72894	2.215	0.41982	D	0.990809	D	0.76494	0.999	D	0.66716	0.946	D	0.99675	1.0997	10	0.87932	D	0	.	16.0293	0.80567	0.0:1.0:0.0:0.0	.	271	O95377	CXB5_HUMAN	I	271	ENSP00000340811:T271I	ENSP00000340811:T271I	T	+	2	0	GJB5	34996330	0.982000	0.34865	0.939000	0.37840	0.303000	0.27691	3.146000	0.50631	2.557000	0.86248	0.563000	0.77884	ACC		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		19	21	0	0	0	1	0	19	21				
RYR2	6262	broad.mit.edu	37	1	237947227	237947227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:237947227C>A	ENST00000366574.2	+	90	12532	c.12215C>A	c.(12214-12216)aCg>aAg	p.T4072K	RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4072					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGCGGAGACGGATGAGAAT	0.512																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12214-12216)aCg>aAg		ryanodine receptor 2 (cardiac)							40.0	38.0	39.0					1																	237947227		2005	4179	6184	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947227C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12215C>A	1.37:g.237947227C>A	ENSP00000355533:p.Thr4072Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	p.T4072K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12532	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4072					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12215C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732286	0.48939	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82344	-0.1;-1.6;-0.1	5.85	4.94	0.65067	EF-hand-like domain (1);	0.078014	0.48767	D	0.000178	T	0.81346	0.4803	N	0.25144	0.715	0.80722	D	1	P;D	0.56287	0.941;0.975	P;P	0.53912	0.737;0.57	T	0.82466	-0.0443	10	0.46703	T	0.11	.	14.9927	0.71401	0.0:0.9318:0.0:0.0682	.	1046;4072	B4DGV4;Q92736	.;RYR2_HUMAN	K	4072;4078;4056;1046	ENSP00000355533:T4072K;ENSP00000353174:T4078K;ENSP00000443798:T4056K	ENSP00000353174:T4078K	T	+	2	0	RYR2	236013850	1.000000	0.71417	0.887000	0.34795	0.059000	0.15707	6.051000	0.71072	1.482000	0.48325	-0.140000	0.14226	ACG		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	12	1	0	0.000602214	1	0.00063391	5	12				
EARS2	124454	broad.mit.edu	37	16	23555840	23555840	+	Silent	SNP	C	C	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:23555840C>G	ENST00000563459.1	-	3	486	c.480G>C	c.(478-480)acG>acC	p.T160T	EARS2_ENST00000449606.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	160					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.T160T(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTTACCGGGGCGTCTGGTGGT	0.542																																						ENST00000449606.1																			1	Substitution - coding silent(1)	p.T160T(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(478-480)acG>acC		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						43.0	48.0	46.0					16																	23555840		1958	4133	6091	SO:0001819	synonymous_variant	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23555840C>G	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.480G>C	16.37:g.23555840C>G						EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000563459.1_Silent_p.T160T	p.T160T	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	3	511	-			160					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	c.480G>C	CCDS42132.1																																																																																				0.542	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		5	22	0	0	0	1	0	5	22				
POLD1	5424	broad.mit.edu	37	19	50905313	50905313	+	Missense_Mutation	SNP	G	G	A	rs141976385		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:50905313G>A	ENST00000440232.2	+	5	574	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	POLD1_ENST00000595904.1_Missense_Mutation_p.R174Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R174Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	174					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCATCAGCCGGGACAGTCGC	0.667								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(520-522)cGg>cAg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	35.0	41.0	39.0		521	3.2	1.0	19	dbSNP_134	39	0,8600		0,0,4300	no	missense	POLD1	NM_002691.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	174/1108	50905313	2,13004	2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905313G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.521G>A	19.37:g.50905313G>A	ENSP00000406046:p.Arg174Gln					POLD1_ENST00000599857.1_Missense_Mutation_p.R174Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R174Q	p.R174Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	574	+		all_neural(266;0.0571)	174					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.521G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	5.013	0.188152	0.09547	4.54E-4	0.0	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.23552	1.9	4.2	3.15	0.36227	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.474943	0.19919	N	0.103127	T	0.09774	0.0240	N	0.03608	-0.345	0.31983	N	0.605582	B;B	0.17667	0.023;0.011	B;B	0.17722	0.019;0.003	T	0.23655	-1.0182	10	0.13108	T	0.6	-17.5772	7.9713	0.30130	0.1983:0.0:0.8017:0.0	.	174;174	E7EVW0;P28340	.;DPOD1_HUMAN	Q	174;175	ENSP00000406046:R174Q	ENSP00000366129:R175Q	R	+	2	0	POLD1	55597125	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	4.344000	0.59354	0.902000	0.36520	0.462000	0.41574	CGG		0.667	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	99	0	0	0	1	0	3	99				
P2RY10	27334	broad.mit.edu	37	X	78216116	78216116	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:78216116A>T	ENST00000171757.2	+	4	379	c.99A>T	c.(97-99)caA>caT	p.Q33H	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGAAATTTCAATACTCCCTCT	0.428																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(97-99)caA>caT		purinergic receptor P2Y, G-protein coupled, 10							182.0	139.0	154.0					X																	78216116		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216116A>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.99A>T	X.37:g.78216116A>T	ENSP00000171757:p.Gln33His					P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	p.Q33H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	379	+			33					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.99A>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	A	0.573	-0.840229	0.02692	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.97	-0.379	0.12493	.	0.295867	0.31859	N	0.006947	T	0.27169	0.0666	L	0.53249	1.67	0.22639	N	0.99891	B	0.11235	0.004	B	0.12837	0.008	T	0.17806	-1.0357	10	0.54805	T	0.06	.	4.2524	0.10702	0.219:0.1063:0.5545:0.1202	.	33	O00398	P2Y10_HUMAN	H	33	ENSP00000443138:Q33H;ENSP00000171757:Q33H	ENSP00000171757:Q33H	Q	+	3	2	P2RY10	78102772	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.280000	0.08468	-0.819000	0.04323	-3.484000	0.00034	CAA		0.428	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			8	61	0	0	0	1	0	8	61				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	34	0	0	0	1	0	3	34				
CUBN	8029	broad.mit.edu	37	10	17142211	17142211	+	Missense_Mutation	SNP	G	G	A	rs564637804		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr10:17142211G>A	ENST00000377833.4	-	14	1623	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	520	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATTCTAACCGGAAAAAAGTG	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14751	0.0		0.0	False		,,,				2504	0.0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1558-1560)Cgg>Tgg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						67.0	69.0	68.0					10																	17142211		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142211G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1558C>T	10.37:g.17142211G>A	ENSP00000367064:p.Arg520Trp						p.R520W	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			14	1623	-			520			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1558C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643105	0.47153	.	.	ENSG00000107611	ENST00000377833	T	0.18502	2.21	5.51	4.58	0.56647	CUB (5);	0.577503	0.14251	N	0.331463	T	0.28067	0.0692	L	0.39898	1.24	0.80722	D	1	D	0.69078	0.997	P	0.54372	0.75	T	0.02444	-1.1158	10	0.66056	D	0.02	.	15.9329	0.79679	0.0:0.1399:0.8601:0.0	.	520	O60494	CUBN_HUMAN	W	520	ENSP00000367064:R520W	ENSP00000367064:R520W	R	-	1	2	CUBN	17182217	0.979000	0.34478	0.400000	0.26346	0.208000	0.24298	1.670000	0.37502	1.276000	0.44395	0.650000	0.86243	CGG		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	35	0	0	0	1	0	12	35				
LILRB5	10990	broad.mit.edu	37	19	54754732	54754732	+	Missense_Mutation	SNP	C	C	A	rs374184163		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54754732C>A	ENST00000316219.5	-	13	1798	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.R565L|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.R465L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	564					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGTTGCCTCCCGTCTGAGGGT	0.627																																						ENST00000316219.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1690-1692)cGg>cTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							67.0	68.0	68.0					19																	54754732		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754732C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1691G>T	19.37:g.54754732C>A	ENSP00000320390:p.Arg564Leu					LILRB5_ENST00000345866.6_Missense_Mutation_p.R465L|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.R565L	p.R564L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1798	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		564					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1691G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034283	0.35893	.	.	ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866	T;T;T	0.00537	6.79;6.8;6.72	2.75	-1.02	0.10135	.	.	.	.	.	T	0.00875	0.0029	M	0.80616	2.505	0.09310	N	1	B;B;P	0.52061	0.211;0.131;0.95	B;B;P	0.45829	0.122;0.123;0.494	T	0.41840	-0.9486	9	0.87932	D	0	.	6.1983	0.20561	0.0:0.5163:0.0:0.4837	.	465;565;564	O75023-2;O75023-3;O75023	.;.;LIRB5_HUMAN	L	564;565;465	ENSP00000320390:R564L;ENSP00000406478:R565L;ENSP00000263430:R465L	ENSP00000320390:R564L	R	-	2	0	LILRB5	59446544	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.237000	0.02922	-0.469000	0.06911	-0.482000	0.04802	CGG		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			13	54	1	0	9.16793e-09	1	1.05784e-08	13	54				
WDR26	80232	broad.mit.edu	37	1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:224621758_224621760delCCG	ENST00000414423.2	-	1	241_243	c.48_50delCGG	c.(46-51)ggcggt>ggt	p.16_17GG>G	WDR26_ENST00000366852.2_In_Frame_Del_p.16_17GG>G|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(46-51)ggt>gg		WD repeat domain 26			,	4,1078		1,2,538					,	-5.8	0.8			3	22,2590		9,4,1293	no	coding,coding	WDR26	NM_025160.6,NM_001115113.2	,	10,6,1831	A1A1,A1R,RR		0.8423,0.3697,0.7038	,	,		26,3668				SO:0001651	inframe_deletion	80232					cytoplasm|nucleus		g.chr1:224621758_224621760delCCG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.48_50delCGG	1.37:g.224621767_224621769delCCG	ENSP00000408108:p.Gly25del					WDR26_ENST00000366852.2_In_Frame_Del_p.GG24del|WDR26_ENST00000295024.6_5'UTR	p.GG24del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	1	241_243	-			24					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	In_Frame_Del	DEL	ENST00000414423.2	37	c.48_50delCGG	CCDS31037.2																																																																																				0.729	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		2	4						2	4	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)cacdel	p.H91del	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(256-258)del		distal-less homeobox 6				63,3,2684		10,0,43,0,3,1319						-4.9	0.2			10	115,3,5884		8,1,98,0,2,2892	no	codingComplex	DLX6	NM_005222.3		18,1,141,0,5,4211	A1A1,A1A2,A1R,A2A2,A2R,RR		1.966,2.4,2.1024				178,6,8568				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635545_96635547delCAC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.256_258delCAC	7.37:g.96635554_96635556delCAC	ENSP00000428480:p.His91del					DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del	p.H91del			P56179	DLX6_HUMAN			1	686_688	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.256_258delCAC	CCDS47647.2																																																																																				0.729	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	6						3	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	4						7	4	---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4608074	4608075	+	5'Flank	DEL	GT	GT	-	rs367809718		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:4608074_4608075delGT	ENST00000574876.1	-	0	0				PELP1_ENST00000436683.2_5'Flank|PELP1_ENST00000570823.1_5'Flank|PELP1_ENST00000572293.1_5'Flank|RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000301396.4_5'Flank|PELP1_ENST00000269230.7_5'Flank			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1						cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCAGTAACGTGTGTGTGTGT	0.515																																						ENST00000497885.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:4608074_4608075delGT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8			17.37:g.4608084_4608085delGT	Exception_encountered							NR_103482.1						0	141	+								O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	RNA	DEL	ENST00000574876.1	37		CCDS58503.1																																																																																				0.515	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		2	4						2	4	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	0				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			3	4						3	4	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-	rs587780342		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1.0			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-	rs559550271		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:45567607_45567609delCTC	ENST00000221455.3	+	13	1226_1228	c.1128_1130delCTC	c.(1126-1131)cgctcc>cgc	p.S385del	CLASRP_ENST00000544944.2_In_Frame_Del_p.S385del|CLASRP_ENST00000391953.4_In_Frame_Del_p.S323del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	385	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1126-1131)cgc>cg		CLK4-associating serine/arginine rich protein				8,94,3280		1,0,6,8,78,1598						4.4	1.0			5	17,209,6522		2,0,13,25,159,3175	no	codingComplex	CLASRP	NM_007056.2		3,0,19,33,237,4773	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3491,3.016,3.2379				25,303,9802				SO:0001651	inframe_deletion	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567607_45567609delCTC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1128_1130delCTC	19.37:g.45567616_45567618delCTC	ENSP00000221455:p.Ser385del					CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del|CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del	p.RS376del			Q8N2M8	CLASR_HUMAN			12	1820_1822	+			376			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	ENST00000221455.3	37	c.1128_1130delCTC	CCDS12652.2																																																																																				0.744	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		2	4						2	4	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		4	8						4	8	---	---	---	---
