#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ERRFI1	54206	broad.mit.edu	37	1	8074054	8074054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:8074054C>T	ENST00000377482.5	-	4	828	c.605G>A	c.(604-606)cGt>cAt	p.R202H	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	202					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACACCCACGGAAGCTTCG	0.443																																						uc001aoz.2		NA																	0				ovary(1)	1						c.(604-606)CGT>CAT		mitogen-inducible gene 6 protein							47.0	49.0	48.0					1																	8074054		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074054C>T	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.605G>A	1.37:g.8074054C>T	ENSP00000366702:p.Arg202His					ERRFI1_uc001apa.1_Missense_Mutation_p.R127H	p.R202H	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	854	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	202					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.605G>A	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070471	0.93950	.	.	ENSG00000116285	ENST00000377482	T	0.18960	2.18	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53308	-0.8457	10	0.66056	D	0.02	-5.0973	17.8486	0.88738	0.0:1.0:0.0:0.0	.	202	Q9UJM3	ERRFI_HUMAN	H	202	ENSP00000366702:R202H	ENSP00000366702:R202H	R	-	2	0	ERRFI1	7996641	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.420000	0.59841	2.437000	0.82529	0.561000	0.74099	CGT		0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		7	38	0	0	0	0	7	38				
CA6	765	broad.mit.edu	37	1	9022705	9022705	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:9022705C>T	ENST00000377443.2	+	5	565	c.561C>T	c.(559-561)atC>atT	p.I187I	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.I127I|CA6_ENST00000377436.3_Silent_p.I187I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	187					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGGCCAACATCAAGTACCCAG	0.507																																						uc001apm.2		NA																	0				ovary(2)	2						c.(559-561)ATC>ATT		carbonic anhydrase VI precursor							110.0	101.0	104.0					1																	9022705		2203	4300	6503	SO:0001819	synonymous_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9022705C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.561C>T	1.37:g.9022705C>T						CA6_uc009vmn.2_Silent_p.I127I	p.I187I	NM_001215	NP_001206	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	5	585	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	187					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	c.561C>T	CCDS30578.1																																																																																				0.507	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			12	66	0	0	0	0	12	66				
VPS13D	55187	broad.mit.edu	37	1	12416557	12416557	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:12416557A>G	ENST00000358136.3	+	49	10104	c.9974A>G	c.(9973-9975)tAt>tGt	p.Y3325C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3300C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATTCTGCTATGCTGACAAA	0.468																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(9973-9975)TAT>TGT		vacuolar protein sorting 13D isoform 1							71.0	71.0	71.0					1																	12416557		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416557A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9974A>G	1.37:g.12416557A>G	ENSP00000350854:p.Tyr3325Cys					VPS13D_uc001atw.2_Missense_Mutation_p.Y3300C|VPS13D_uc001atx.2_Missense_Mutation_p.Y2512C	p.Y3325C	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	49	10115	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3324						Missense_Mutation	SNP	ENST00000358136.3	37	c.9974A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.296567|4.296567	0.81025|0.81025	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.35236	.|1.32;1.32	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Vacuolar protein sorting-associated protein (1);	.|0.112278	.|0.64402	.|D	.|0.000007	T|T	0.60025|0.60025	0.2237|0.2237	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.83275	.|0.992;0.996	T|T	0.62572|0.62572	-0.6826|-0.6826	5|10	.|0.72032	.|D	.|0.01	.|.	16.3797|16.3797	0.83452|0.83452	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3300;3324	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|C	2147|3300;3325	.|ENSP00000348666:Y3300C;ENSP00000350854:Y3325C	.|ENSP00000348666:Y3300C	M|Y	+|+	1|2	0|0	VPS13D|VPS13D	12339144|12339144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.855000|8.855000	0.92236|0.92236	2.271000|2.271000	0.75665|0.75665	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		22	77	0	0	0	0	22	77				
DHDDS	79947	broad.mit.edu	37	1	26769228	26769228	+	Missense_Mutation	SNP	C	C	T	rs148606976		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:26769228C>T	ENST00000236342.7	+	4	280	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	DHDDS_ENST00000374185.3_Missense_Mutation_p.R63W|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000427245.2_Missense_Mutation_p.R63W|DHDDS_ENST00000526219.1_Missense_Mutation_p.R63W|DHDDS_ENST00000525682.2_Missense_Mutation_p.R63W|DHDDS_ENST00000360009.2_Missense_Mutation_p.R63W			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	63					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGACTCTGCGGTGGTGTTT	0.493																																						uc001bml.2		NA																	0				breast(3)	3						c.(187-189)CGG>TGG		dehydrodolichyl diphosphate synthase isoform b		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	148.0	143.0	145.0		187,187	5.9	1.0	1	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DHDDS	NM_024887.3,NM_205861.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	63/335,63/334	26769228	1,13005	2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26769228C>T	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.187C>T	1.37:g.26769228C>T	ENSP00000236342:p.Arg63Trp					DHDDS_uc001bmk.2_Missense_Mutation_p.R63W|DHDDS_uc001bmm.2_5'UTR|DHDDS_uc001bmn.2_Missense_Mutation_p.R63W|DHDDS_uc010ofd.1_Missense_Mutation_p.R63W	p.R63W	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	4	308	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	63					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.187C>T	CCDS282.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520670	0.96416	0.0	1.16E-4	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525326;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.92	5.92	0.95590	.	0.133906	0.64402	D	0.000001	T	0.75384	0.3842	M	0.91920	3.255	0.80722	D	1	D;D;P;P	0.56746	0.977;0.971;0.924;0.906	P;P;P;P	0.55011	0.766;0.59;0.67;0.54	T	0.80859	-0.1194	10	0.87932	D	0	-20.2169	19.3088	0.94175	0.0:1.0:0.0:0.0	.	63;63;63;63	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	W	31;63;63;63;63;63;63;63;63;63;63;63;63;63	ENSP00000399177:R63W;ENSP00000434984:R63W;ENSP00000236342:R63W;ENSP00000434219:R63W;ENSP00000363300:R63W;ENSP00000353104:R63W;ENSP00000436119:R63W;ENSP00000436764:R63W;ENSP00000434185:R63W;ENSP00000431407:R63W;ENSP00000433976:R63W;ENSP00000397584:R63W	ENSP00000236342:R63W	R	+	1	2	DHDDS	26641815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.911000	0.56378	2.809000	0.96659	0.655000	0.94253	CGG		0.493	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		46	119	0	0	0	0	46	119				
PHC2	1912	broad.mit.edu	37	1	33795788	33795788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:33795788C>T	ENST00000257118.5	-	12	2082	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	PHC2_ENST00000373422.3_Missense_Mutation_p.V283M|PHC2_ENST00000431992.1_Missense_Mutation_p.V648M|PHC2_ENST00000373416.1_Missense_Mutation_p.V142M|PHC2_ENST00000419414.2_Missense_Mutation_p.V678M|PHC2_ENST00000373418.3_Missense_Mutation_p.V142M|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	677					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAAGTCCCACCCGTTTGGTG	0.582																																						uc001bxg.1		NA																	0				ovary(1)	1						c.(2029-2031)GTG>ATG		polyhomeotic-like 2 isoform a							107.0	90.0	96.0					1																	33795788		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33795788C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2029G>A	1.37:g.33795788C>T	ENSP00000257118:p.Val677Met					PHC2_uc001bxh.1_Missense_Mutation_p.V649M|PHC2_uc009vuh.1_Missense_Mutation_p.V678M|PHC2_uc001bxe.1_Missense_Mutation_p.V142M|PHC2_uc001bxf.1_Missense_Mutation_p.V92M	p.V677M	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			12	2083	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	677					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.2029G>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041569	0.75732	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	6.04	6.04	0.98038	.	0.159111	0.56097	D	0.000027	T	0.41328	0.1154	L	0.48642	1.525	0.45295	D	0.99829	P;P;P;P	0.42518	0.473;0.473;0.473;0.782	B;B;B;B	0.40375	0.145;0.145;0.145;0.327	T	0.11591	-1.0581	10	0.33141	T	0.24	-16.1138	18.073	0.89417	0.0:1.0:0.0:0.0	.	678;649;677;92	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	M	648;677;283;142;255;678;142	ENSP00000389436:V648M;ENSP00000257118:V677M;ENSP00000362521:V283M;ENSP00000362517:V142M;ENSP00000391440:V678M;ENSP00000362515:V142M	ENSP00000257118:V677M	V	-	1	0	PHC2	33568375	0.993000	0.37304	0.998000	0.56505	0.959000	0.62525	2.919000	0.48836	2.873000	0.98535	0.561000	0.74099	GTG		0.582	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		7	61	0	0	0	0	7	61				
GFI1	2672	broad.mit.edu	37	1	92948573	92948573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:92948573G>A	ENST00000370332.1	-	3	464	c.146C>T	c.(145-147)gCg>gTg	p.A49V	GFI1_ENST00000427103.1_Missense_Mutation_p.A49V|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Missense_Mutation_p.A49V	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	49					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCGGGGCTCCGCCTTCGCCCC	0.662																																						uc001dou.3		NA																	0				large_intestine(1)	1						c.(145-147)GCG>GTG		growth factor independent 1							32.0	41.0	38.0					1																	92948573		2201	4297	6498	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92948573G>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.146C>T	1.37:g.92948573G>A	ENSP00000359357:p.Ala49Val					GFI1_uc001dov.3_Missense_Mutation_p.A49V|GFI1_uc001dow.3_Missense_Mutation_p.A49V	p.A49V	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	3	310	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	49					Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.146C>T	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541166	0.27563	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.08458	3.09;3.09;3.09	5.18	3.28	0.37604	.	0.847835	0.10596	N	0.656200	T	0.01976	0.0062	L	0.29908	0.895	0.21064	N	0.999799	B	0.02656	0.0	B	0.01281	0.0	T	0.46133	-0.9213	10	0.33141	T	0.24	-9.6441	7.003	0.24820	0.2884:0.0:0.7116:0.0	.	49	Q99684	GFI1_HUMAN	V	49	ENSP00000359357:A49V;ENSP00000399719:A49V;ENSP00000294702:A49V	ENSP00000294702:A49V	A	-	2	0	GFI1	92721161	0.504000	0.26123	0.994000	0.49952	0.327000	0.28475	0.785000	0.26830	0.665000	0.31066	0.561000	0.74099	GCG		0.662	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		12	54	0	0	0	0	12	54				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						uc009wig.1		NA																	4	Substitution - coding silent(3)|Substitution - Missense(1)		prostate(4)		0						c.(2749-2751)TAC>GAC		hypothetical protein LOC400818							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818					cytoplasm		g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF9_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF9_uc010oxr.1_Missense_Mutation_p.Y944D|NBPF9_uc010oxt.1_Missense_Mutation_p.Y732D|NBPF9_uc001ekg.1_Missense_Mutation_p.Y244D|NBPF9_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y577D|uc001elr.3_5'Flank	p.Y917D	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			23	2825	+			917			NBPF 7.			Missense_Mutation	SNP	ENST00000281815.8	37	c.2749T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		7	296	0	0	0	0	7	296				
TCHH	7062	broad.mit.edu	37	1	152083257	152083257	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152083257C>T	ENST00000368804.1	-	2	2435	c.2436G>A	c.(2434-2436)ccG>ccA	p.P812P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	812					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCCGGGAGAAACC	0.701																																						uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2434-2436)CCG>CCA		trichohyalin							25.0	30.0	28.0					1																	152083257		1959	4140	6099	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083257C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2436G>A	1.37:g.152083257C>T						TCHH_uc009wne.1_Silent_p.P812P	p.P812P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2436	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		812					Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.2436G>A	CCDS41396.1																																																																																				0.701	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	65	0	0	0	0	7	65				
FLG	2312	broad.mit.edu	37	1	152279952	152279952	+	Missense_Mutation	SNP	A	A	T	rs200926982	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152279952A>T	ENST00000368799.1	-	3	7445	c.7410T>A	c.(7408-7410)agT>agA	p.S2470R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2470	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTTCCTCCACTGCTTGACC	0.567									Ichthyosis				a|||	3	0.000599042	0.0	0.0014	5008	,	,		20479	0.001		0.001	False		,,,				2504	0.0					uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7408-7410)AGT>AGA		filaggrin							372.0	345.0	354.0					1																	152279952		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279952A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7410T>A	1.37:g.152279952A>T	ENSP00000357789:p.Ser2470Arg						p.S2470R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7446	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2470			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7410T>A	CCDS30860.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	a	8.974	0.973756	0.18736	.	.	ENSG00000143631	ENST00000368799	T	0.01767	4.65	3.41	-6.83	0.01693	.	.	.	.	.	T	0.00109	0.0003	N	0.00517	-1.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44574	-0.9319	9	0.11485	T	0.65	.	0.9284	0.01330	0.335:0.1368:0.3346:0.1935	.	2470	P20930	FILA_HUMAN	R	2470	ENSP00000357789:S2470R	ENSP00000357789:S2470R	S	-	3	2	FLG	150546576	.	.	0.000000	0.03702	0.010000	0.07245	.	.	-2.564000	0.00472	-0.898000	0.02899	AGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		36	581	0	0	0	0	36	581				
ADAM15	8751	broad.mit.edu	37	1	155029698	155029698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:155029698C>T	ENST00000356955.2	+	12	1284	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ADAM15_ENST00000368410.2_Nonsense_Mutation_p.R101*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R379*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368413.1_Nonsense_Mutation_p.R101*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R395*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R405*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R395*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	395	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACTGCAGCCGACGGGCCCT	0.632																																						uc001fgr.1		NA																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1183-1185)CGA>TGA		a disintegrin and metalloproteinase domain 15							34.0	38.0	37.0					1																	155029698		2203	4300	6503	SO:0001587	stop_gained	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155029698C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1183C>T	1.37:g.155029698C>T	ENSP00000349436:p.Arg395*					ADAM15_uc001fgq.1_Nonsense_Mutation_p.R80*|ADAM15_uc010pet.1_Nonsense_Mutation_p.R379*|ADAM15_uc010peu.1_Nonsense_Mutation_p.R412*|ADAM15_uc001fgt.1_Nonsense_Mutation_p.R395*|ADAM15_uc010pev.1_Nonsense_Mutation_p.R405*|ADAM15_uc001fgs.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgu.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgw.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgv.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgx.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	p.R395*	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		12	1284	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		395			Peptidase M12B.|Extracellular (Potential).		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Nonsense_Mutation	SNP	ENST00000356955.2	37	c.1183C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681314	0.88542	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	.	.	.	4.96	2.91	0.33838	.	0.229752	0.22661	N	0.057199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7593	0.51892	0.3275:0.6725:0.0:0.0	.	.	.	.	X	395;395;395;395;395;395;101;395;101;405	.	ENSP00000271836:R395X	R	+	1	2	ADAM15	153296322	0.055000	0.20627	0.993000	0.49108	0.990000	0.78478	0.252000	0.18278	1.299000	0.44798	0.643000	0.83706	CGA		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		8	40	0	0	0	0	8	40				
PMF1	11243	broad.mit.edu	37	1	156206091	156206091	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:156206091G>T	ENST00000368273.4	+	4	397	c.387G>T	c.(385-387)ggG>ggT	p.G129G	PMF1-BGLAP_ENST00000490491.1_Silent_p.G127G|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000565805.1_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000368279.3_Intron|PMF1_ENST00000368277.3_Silent_p.G127G	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GCCCCAGCGGGATCCCAGAGA	0.617																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	uc001fnq.2		NA																	0					0						c.(379-381)GGG>GGT		polyamine-modulated factor 1							73.0	75.0	74.0					1																	156206091		2203	4300	6503	SO:0001819	synonymous_variant	11243				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity	g.chr1:156206091G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.387G>T	1.37:g.156206091G>T						PMF1_uc001fnr.2_Intron|BGLAP_uc001fns.1_Intron	p.G127G	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN			4	404	+	Hepatocellular(266;0.158)		127						Silent	SNP	ENST00000368273.4	37	c.381G>T	CCDS55648.1																																																																																				0.617	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		9	110	1	0	1.77e-08	2.29e-08	9	110				
OLFML2B	25903	broad.mit.edu	37	1	161953756	161953756	+	Silent	SNP	C	C	T	rs189641777	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:161953756C>T	ENST00000294794.3	-	8	2385	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	OLFML2B_ENST00000367938.1_Silent_p.A137A|OLFML2B_ENST00000367940.2_Silent_p.A655A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	654	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTCAGGTCCGCGGCATTGA	0.582													c|||	2	0.000399361	0.0	0.0014	5008	,	,		21140	0.001		0.0	False		,,,				2504	0.0					uc001gbu.2		NA																	0				skin(1)	1						c.(1960-1962)GCG>GCA		olfactomedin-like 2B precursor							104.0	92.0	96.0					1																	161953756		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953756C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1962G>A	1.37:g.161953756C>T						OLFML2B_uc001gbt.2_Silent_p.A137A|OLFML2B_uc010pkq.1_Silent_p.A655A	p.A654A	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2386	-	all_hematologic(112;0.156)		654			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1962G>A	CCDS1236.1																																																																																				0.582	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		13	71	0	0	0	0	13	71				
PIK3C2B	5287	broad.mit.edu	37	1	204394760	204394760	+	Missense_Mutation	SNP	T	T	A	rs143735929		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:204394760T>A	ENST00000367187.3	-	33	5253	c.4697A>T	c.(4696-4698)aAt>aTt	p.N1566I	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1538I	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1566	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTAGGTAGGATTGCAGGTTTT	0.498																																						uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(4696-4698)AAT>ATT		phosphoinositide-3-kinase, class 2 beta							150.0	127.0	134.0					1																	204394760		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204394760T>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4697A>T	1.37:g.204394760T>A	ENSP00000356155:p.Asn1566Ile					PIK3C2B_uc010pqv.1_Missense_Mutation_p.N1538I	p.N1566I	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		33	5176	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1566			C2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4697A>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785606	0.90282	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.76060	-0.99;-0.99	5.73	5.73	0.89815	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	H	0.97783	4.075	0.49798	D	0.999825	D;D	0.89917	0.99;1.0	D;D	0.91635	0.975;0.999	D	0.94498	0.7707	10	0.87932	D	0	.	15.6684	0.77252	0.0:0.0:0.0:1.0	.	1538;1566	F5GWN5;O00750	.;P3C2B_HUMAN	I	1566;1538	ENSP00000356155:N1566I;ENSP00000400561:N1538I	ENSP00000356155:N1566I	N	-	2	0	PIK3C2B	202661383	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.037000	0.88933	2.180000	0.69256	0.460000	0.39030	AAT		0.498	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		11	59	0	0	0	0	11	59				
TMCC2	9911	broad.mit.edu	37	1	205238928	205238928	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205238928T>C	ENST00000358024.3	+	3	1987	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	TMCC2_ENST00000330675.7_Missense_Mutation_p.L308P|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.L455P|TMCC2_ENST00000329800.7_Missense_Mutation_p.L293P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	533						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTCACCTGGAGGACTCC	0.587																																						uc001hbz.1		NA																	0				pancreas(1)	1						c.(1597-1599)CTG>CCG		transmembrane and coiled-coil domain family 2							123.0	111.0	115.0					1																	205238928		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205238928T>C	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1598T>C	1.37:g.205238928T>C	ENSP00000350718:p.Leu533Pro					TMCC2_uc010prf.1_Missense_Mutation_p.L455P|TMCC2_uc001hca.2_Missense_Mutation_p.L308P|TMCC2_uc001hcb.1_Missense_Mutation_p.L293P|TMCC2_uc001hcc.1_Missense_Mutation_p.L154P|TMCC2_uc001hcd.2_Missense_Mutation_p.L300P	p.L533P	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		4	2042	+	Breast(84;0.0871)		533			Potential.		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.1598T>C	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341483	0.81911	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.72	5.72	0.89469	.	0.103302	0.64402	D	0.000005	T	0.80924	0.4717	M	0.84948	2.725	0.80722	D	1	D;P;D;D	0.57571	0.98;0.884;0.972;0.971	D;P;D;D	0.69142	0.962;0.8;0.921;0.912	D	0.84223	0.0462	10	0.87932	D	0	.	15.6499	0.77084	0.0:0.0:0.0:1.0	.	329;293;308;533	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	P	533;455;308;293	ENSP00000350718:L533P;ENSP00000437943:L455P;ENSP00000331842:L308P;ENSP00000329436:L293P	ENSP00000329436:L293P	L	+	2	0	TMCC2	203505551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.289000	0.72696	2.180000	0.69256	0.459000	0.35465	CTG		0.587	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		3	144	0	0	0	0	3	144				
SLC26A9	115019	broad.mit.edu	37	1	205899105	205899105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205899105G>T	ENST00000367135.3	-	6	745	c.632C>A	c.(631-633)gCc>gAc	p.A211D	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A211D|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A211D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	211					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGCAGGCCGGCGGCCGTCAT	0.577																																						uc001hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(631-633)GCC>GAC		solute carrier family 26, member 9 isoform a							65.0	58.0	61.0					1																	205899105		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205899105G>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.632C>A	1.37:g.205899105G>T	ENSP00000356103:p.Ala211Asp					SLC26A9_uc001hdo.2_5'Flank|SLC26A9_uc001hdp.2_Missense_Mutation_p.A211D	p.A211D	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		6	746	-	Breast(84;0.201)		211			Helical; (Potential).		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.632C>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949459	0.73787	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.94184	-3.37;-3.37;-3.37	5.6	5.6	0.85130	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97962	1.0338	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	211;211	Q7LBE3;B1AVM8	S26A9_HUMAN;.	D	211	ENSP00000341682:A211D;ENSP00000356103:A211D;ENSP00000356102:A211D	ENSP00000341682:A211D	A	-	2	0	SLC26A9	204165728	1.000000	0.71417	0.171000	0.22900	0.236000	0.25371	7.784000	0.85713	2.653000	0.90120	0.561000	0.74099	GCC		0.577	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		9	47	1	0	1.13e-05	1.44e-05	9	47				
IRF6	3664	broad.mit.edu	37	1	209969692	209969692	+	Splice_Site	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:209969692C>G	ENST00000367021.3	-	4	552		c.e4+1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCCTCACCTGGGTTAAT	0.512										HNSCC(57;0.16)																												uc001hhq.1		NA																	0				ovary(2)	2						c.e4+1		interferon regulatory factor 6							70.0	66.0	67.0					1																	209969692		2203	4300	6503	SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969692C>G	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.379+1G>C	1.37:g.209969692C>G		HNSCC(57;0.16)				IRF6_uc010psm.1_Splice_Site_p.G32_splice|IRF6_uc009xct.1_Splice_Site_p.G127_splice	p.G127_splice	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	642	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	37	c.379_splice	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493163	0.84962	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF6	208036315	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.910000	0.75741	2.652000	0.90054	0.655000	0.94253	.		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	6	53	0	0	0	0	6	53				
VASH2	79805	broad.mit.edu	37	1	213146032	213146032	+	Missense_Mutation	SNP	G	G	A	rs150945050		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:213146032G>A	ENST00000517399.1	+	5	608	c.608G>A	c.(607-609)cGc>cAc	p.R203H	VASH2_ENST00000366964.3_Missense_Mutation_p.R61H|VASH2_ENST00000366966.2_Missense_Mutation_p.R138H|VASH2_ENST00000366965.2_Missense_Mutation_p.R159H|VASH2_ENST00000366967.2_Missense_Mutation_p.R99H|VASH2_ENST00000366968.4_Missense_Mutation_p.R138H|VASH2_ENST00000271776.4_3'UTR			Q86V25	VASH2_HUMAN	vasohibin 2	203					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGCAATGGCCGCTATGGCTCA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20771	0.0		0.0	False		,,,				2504	0.001					uc001hjy.2		NA																	0					0						c.(607-609)CGC>CAC		vasohibin 2 isoform 3		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	113.0	102.0	106.0		413,296,476	-2.0	0.2	1	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	VASH2	NM_001136474.1,NM_001136475.1,NM_024749.3	29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	138/291,99/252,159/312	213146032	2,13004	2203	4300	6503	SO:0001583	missense	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213146032G>A	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.608G>A	1.37:g.213146032G>A	ENSP00000428324:p.Arg203His					VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.R138H|VASH2_uc010ptn.1_Missense_Mutation_p.R99H|VASH2_uc001hjw.2_Missense_Mutation_p.R159H	p.R203H	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	5	812	+			203					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.608G>A	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545348	0.27652	0.0	2.33E-4	ENSG00000143494	ENST00000366966;ENST00000366964;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.26	-1.98	0.07480	.	0.400526	0.27768	N	0.017939	T	0.39733	0.1089	L	0.31065	0.9	0.35478	D	0.797891	B;B	0.13145	0.001;0.007	B;B	0.06405	0.002;0.002	T	0.13926	-1.0491	9	0.44086	T	0.13	-12.2959	10.5594	0.45135	0.549:0.0:0.451:0.0	.	203;159	Q86V25;Q86V25-5	VASH2_HUMAN;.	H	138;61;138;159;99;203	.	ENSP00000355931:R61H	R	+	2	0	VASH2	211212655	1.000000	0.71417	0.216000	0.23742	0.808000	0.45660	2.840000	0.48215	-0.613000	0.05694	-0.880000	0.02959	CGC		0.502	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		10	82	0	0	0	0	10	82				
MARK1	4139	broad.mit.edu	37	1	220824023	220824023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:220824023C>T	ENST00000366917.4	+	14	1798	c.1532C>T	c.(1531-1533)aCa>aTa	p.T511I	MARK1_ENST00000402574.1_Missense_Mutation_p.T376I|MARK1_ENST00000366918.4_Missense_Mutation_p.T489I					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAAGGACCACAGATCGATAC	0.378																																						uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1531-1533)ACA>ATA		MAP/microtubule affinity-regulating kinase 1							174.0	157.0	163.0					1																	220824023		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220824023C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1532C>T	1.37:g.220824023C>T	ENSP00000355884:p.Thr511Ile					MARK1_uc009xdw.2_Missense_Mutation_p.T511I|MARK1_uc010pun.1_Missense_Mutation_p.T511I|MARK1_uc001hmm.3_Missense_Mutation_p.T489I	p.T511I	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	14	2129	+			511						Missense_Mutation	SNP	ENST00000366917.4	37	c.1532C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745487	0.69418	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.34275	1.37;1.37;1.37	5.46	5.46	0.80206	.	0.117438	0.64402	D	0.000016	T	0.40522	0.1120	L	0.56769	1.78	0.49389	D	0.999786	B;B;B;B	0.25206	0.002;0.12;0.072;0.002	B;B;B;B	0.24541	0.004;0.054;0.021;0.009	T	0.22730	-1.0208	10	0.51188	T	0.08	.	19.6609	0.95871	0.0:1.0:0.0:0.0	.	511;376;511;489	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	I	376;489;511	ENSP00000386017:T376I;ENSP00000355885:T489I;ENSP00000355884:T511I	ENSP00000355884:T511I	T	+	2	0	MARK1	218890646	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.270000	0.78493	2.736000	0.93811	0.655000	0.94253	ACA		0.378	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			14	101	0	0	0	0	14	101				
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230841942C>T	ENST00000366667.4	-	3	1075	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGCCCTTCATCTTCCCTGAAA	0.607																																						uc001hty.3		NA																	0					0						c.(859-861)AAG>AAA		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						41.0	37.0	38.0					1																	230841942		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230841942C>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.861G>A	1.37:g.230841942C>T						AGT_uc009xfe.2_Silent_p.K287K|AGT_uc009xff.2_Silent_p.K259K	p.K287K	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	1369	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	287					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.861G>A	CCDS1585.1																																																																																				0.607	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		6	39	0	0	0	0	6	39				
AGT	183	broad.mit.edu	37	1	230846071	230846071	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230846071C>T	ENST00000366667.4	-	2	740	c.526G>A	c.(526-528)Gat>Aat	p.D176N	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	176					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTGTGCGCATCCAGCCGGGAG	0.627																																						uc001hty.3		NA																	0					0						c.(526-528)GAT>AAT		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						59.0	49.0	52.0					1																	230846071		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846071C>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.526G>A	1.37:g.230846071C>T	ENSP00000355627:p.Asp176Asn					AGT_uc009xfe.2_Missense_Mutation_p.D176N|AGT_uc009xff.2_Missense_Mutation_p.D148N	p.D176N	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1034	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	176					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.526G>A	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833069	0.71258	.	.	ENSG00000135744	ENST00000366667	D	0.88277	-2.36	4.87	4.87	0.63330	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.94202	0.8139	M	0.74258	2.255	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.967;0.998	D	0.94269	0.7509	10	0.52906	T	0.07	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	176;176;176	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	N	176	ENSP00000355627:D176N	ENSP00000355627:D176N	D	-	1	0	AGT	228912694	0.998000	0.40836	0.988000	0.46212	0.385000	0.30292	3.404000	0.52623	2.408000	0.81797	0.491000	0.48974	GAT		0.627	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		8	66	0	0	0	0	8	66				
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTTGATTTCCGTAAACATGTC	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0					uc001iaj.2		NA																	0				ovary(2)|kidney(1)	3						c.(1108-1110)ACG>ATG		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						91.0	83.0	86.0					1																	244579342		2203	4299	6502	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244579342G>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1109C>T	1.37:g.244579342G>A	ENSP00000355493:p.Thr370Met						p.T370M	NM_001126	NP_001117	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		11	1403	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	370						Missense_Mutation	SNP	ENST00000366535.3	37	c.1109C>T	CCDS1624.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.7	4.032702	0.75504	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.32	5.32	0.75619	.	0.152816	0.64402	D	0.000019	T	0.36110	0.0955	N	0.19112	0.55	0.38964	D	0.958613	P	0.44776	0.843	B	0.42851	0.4	T	0.41413	-0.9510	10	0.72032	D	0.01	-13.6572	18.999	0.92826	0.0:0.0:1.0:0.0	.	370	P30520	PURA2_HUMAN	M	370;349	ENSP00000355493:T370M	ENSP00000355493:T370M	T	-	2	0	ADSS	242645965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.281000	0.51685	2.470000	0.83445	0.563000	0.77884	ACG		0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		3	31	0	0	0	0	3	31				
AHCTF1	25909	broad.mit.edu	37	1	247014644	247014644	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:247014644T>A	ENST00000391829.2	-	33	4787	c.4664A>T	c.(4663-4665)tAc>tTc	p.Y1555F	AHCTF1_ENST00000326225.3_Missense_Mutation_p.Y1564F|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.Y1590F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1555	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCAAAATTGTACTGAAGCTT	0.378																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(4663-4665)TAC>TTC		transcription factor ELYS							57.0	57.0	57.0					1																	247014644		2203	4298	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014644T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4664A>T	1.37:g.247014644T>A	ENSP00000375705:p.Tyr1555Phe					AHCTF1_uc001ibv.1_Missense_Mutation_p.Y1564F|AHCTF1_uc009xgs.1_Missense_Mutation_p.Y416F|AHCTF1_uc001ibw.1_RNA	p.Y1555F	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		32	4671	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1555			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.4664A>T		.	.	.	.	.	.	.	.	.	.	T	11.75	1.730282	0.30684	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.59638	0.25;0.26;0.26	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.69151	0.3079	L	0.55834	1.745	0.38333	D	0.943864	D;P;P	0.89917	1.0;0.859;0.779	D;B;B	0.87578	0.998;0.274;0.141	T	0.65627	-0.6122	10	0.10377	T	0.69	-19.2938	15.3933	0.74767	0.0:0.0:0.0:1.0	.	416;1590;1555	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	F	1590;1564;1555	ENSP00000355464:Y1590F;ENSP00000355465:Y1564F;ENSP00000375705:Y1555F	ENSP00000355465:Y1564F	Y	-	2	0	AHCTF1	245081267	0.998000	0.40836	1.000000	0.80357	0.374000	0.29953	3.586000	0.53950	2.371000	0.80710	0.533000	0.62120	TAC		0.378	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		10	74	0	0	0	0	10	74				
COMMD3	23412	broad.mit.edu	37	10	22606902	22606902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:22606902C>T	ENST00000376836.3	+	2	673	c.229C>T	c.(229-231)Cga>Tga	p.R77*	COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.R77*	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	77										kidney(2)|lung(2)|ovary(1)	5						AGGAAAGCACCGAGCTGACAA	0.338																																						uc009xkg.2		NA																	0				ovary(1)|skin(1)	2						c.(229-231)CGA>TGA		BMI1 polycomb ring finger oncogene							74.0	80.0	78.0					10																	22606902		2203	4300	6503	SO:0001587	stop_gained	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22606902C>T	AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 8"""	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.229C>T	10.37:g.22606902C>T	ENSP00000366032:p.Arg77*					COMMD3_uc001ire.2_Nonsense_Mutation_p.R77*|COMMD3_uc001irf.2_Nonsense_Mutation_p.R77*|COMMD3_uc001irg.2_RNA	p.R77*	NM_005180	NP_005171	P35226	BMI1_HUMAN			2	277	+			Error:Variant_position_missing_in_P35226_after_alignment					D3DRU7|Q5T8Y9	Nonsense_Mutation	SNP	ENST00000376836.3	37	c.229C>T	CCDS7137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.62|16.62	3.173890|3.173890	0.57692|0.57692	.|.	.|.	ENSG00000148444|ENSG00000148444	ENST00000456711;ENST00000444869|ENST00000376836;ENST00000376776;ENST00000376787	.|.	.|.	.|.	5.9|5.9	2.62|2.62	0.31277|0.31277	.|.	.|0.533789	.|0.22512	.|N	.|0.059083	T|.	0.50222|.	0.1603|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23013|.	-1.0200|.	4|.	.|0.17832	.|T	.|0.49	-16.9179|-16.9179	9.5594|9.5594	0.39360|0.39360	0.7419:0.1793:0.0788:0.0|0.7419:0.1793:0.0788:0.0	.|.	.|.	.|.	.|.	L|X	77;76|77	.|.	.|ENSP00000365968:R77X	P|R	+|+	2|1	0|2	COMMD3|COMMD3	22646908|22646908	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.730000|0.730000	0.41778|0.41778	2.432000|2.432000	0.44784|0.44784	0.263000|0.263000	0.21812|0.21812	-1.177000|-1.177000	0.01723|0.01723	CCG|CGA		0.338	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047159.1	NM_012071		7	65	0	0	0	0	7	65				
HK1	3098	broad.mit.edu	37	10	71142523	71142523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:71142523G>A	ENST00000359426.6	+	10	1650	c.1546G>A	c.(1546-1548)Gtc>Atc	p.V516I	HK1_ENST00000448642.2_Missense_Mutation_p.V551I|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.V515I|HK1_ENST00000360289.2_Missense_Mutation_p.V504I|HK1_ENST00000404387.2_Missense_Mutation_p.V520I	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	516	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCCCTCCTTCGTCCGGAGAAC	0.632																																						uc001jpl.3		NA																	0				ovary(1)	1						c.(1546-1548)GTC>ATC		hexokinase 1 isoform HKI							75.0	56.0	62.0					10																	71142523		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71142523G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1546G>A	10.37:g.71142523G>A	ENSP00000352398:p.Val516Ile					HK1_uc001jpg.3_Missense_Mutation_p.V504I|HK1_uc001jph.3_Missense_Mutation_p.V520I|HK1_uc001jpi.3_Missense_Mutation_p.V520I|HK1_uc001jpj.3_Missense_Mutation_p.V551I|HK1_uc001jpk.3_Missense_Mutation_p.V515I|HK1_uc009xqd.2_Missense_Mutation_p.V394I	p.V516I	NM_000188	NP_000179	P19367	HXK1_HUMAN			10	1647	+			516			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1546G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998431	0.93227	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.99	5.99	0.97316	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	M	0.79926	2.475	0.80722	D	1	B;B;P;P;B;P	0.49862	0.058;0.047;0.483;0.551;0.279;0.929	B;B;B;P;B;P	0.52554	0.174;0.158;0.378;0.558;0.308;0.702	D	0.99395	1.0926	10	0.87932	D	0	-3.4991	20.4488	0.99124	0.0:0.0:1.0:0.0	.	516;516;515;551;520;504	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	I	504;551;520;515;516;516	ENSP00000353433:V504I;ENSP00000402103:V551I;ENSP00000384774:V520I;ENSP00000298649:V515I;ENSP00000352398:V516I	ENSP00000298649:V515I	V	+	1	0	HK1	70812529	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	9.771000	0.98977	2.843000	0.97960	0.655000	0.94253	GTC		0.632	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		9	47	0	0	0	0	9	47				
ADAMTS14	140766	broad.mit.edu	37	10	72489916	72489916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:72489916G>A	ENST00000373207.1	+	6	1013	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ADAMTS14_ENST00000373208.1_Nonsense_Mutation_p.W338*	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	338	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTGTGTCGCTGGGCACACTCC	0.662																																						uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1012-1014)TGG>TAG		ADAM metallopeptidase with thrombospondin type 1							79.0	72.0	75.0					10																	72489916		2203	4300	6503	SO:0001587	stop_gained	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489916G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1013G>A	10.37:g.72489916G>A	ENSP00000362303:p.Trp338*					ADAMTS14_uc001jrg.2_Nonsense_Mutation_p.W338*	p.W338*	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			6	1013	+			338			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Nonsense_Mutation	SNP	ENST00000373207.1	37	c.1013G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	38	6.753634	0.97813	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	.	.	.	X	338	.	ENSP00000362303:W338X	W	+	2	0	ADAMTS14	72159922	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.578000	0.98200	2.608000	0.88229	0.655000	0.94253	TGG		0.662	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		10	74	0	0	0	0	10	74				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	G	rs104894230		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:534288C>G	ENST00000451590.1	-	2	222	c.35G>C	c.(34-36)gGc>gCc	p.G12A	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.G12A|HRAS_ENST00000311189.7_Missense_Mutation_p.G12A|HRAS_ENST00000397594.1_Missense_Mutation_p.G12A|HRAS_ENST00000397596.2_Missense_Mutation_p.G12A	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		309	Substitution - Missense(309)	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)GGC>GCC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>C	11.37:g.534288C>G	ENSP00000407586:p.Gly12Ala	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12A|HRAS_uc010qvx.1_Missense_Mutation_p.G12A|HRAS_uc010qvy.1_RNA	p.G12A	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	223	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610798	0.66558	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.72894	2.215	0.80722	D	1	P;P	0.45531	0.831;0.86	P;P	0.52758	0.584;0.708	D	0.86091	0.1550	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	A	12	ENSP00000380722:G12A;ENSP00000380723:G12A;ENSP00000407586:G12A;ENSP00000388246:G12A;ENSP00000309845:G12A	ENSP00000309845:G12A	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		9	46	0	0	0	0	9	46				
MUC5B	727897	broad.mit.edu	37	11	1283520	1283520	+	IGR	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:1283520A>C	ENST00000529681.1	+	0	17911					NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGTCCAGGACCCCCAGCAG	0.657																																						uc009ycr.1		NA																	0					0						c.(18277-18279)GAC>GCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							49.0	58.0	55.0					11																	1283520		872	1990	2862	SO:0001628	intergenic_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1283520A>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84			11.37:g.1283520A>C							p.D6093A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	72	18404	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:Variant_position_missing_in_Q9HC84_after_alignment					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.18278A>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	1.978	-0.434742	0.04669	.	.	ENSG00000117983	ENST00000406844	.	.	.	1.35	-2.7	0.06004	.	.	.	.	.	T	0.22936	0.0554	.	.	.	.	.	.	B	0.18461	0.028	B	0.09377	0.004	T	0.11792	-1.0573	6	0.33141	T	0.24	.	3.8118	0.08799	0.2134:0.4206:0.366:0.0	.	6093	A7Y9J9	.	A	5468	.	ENSP00000384815:D5468A	D	+	2	0	MUC5B	1240096	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.549000	0.06041	-1.384000	0.02103	-0.425000	0.05940	GAC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	91	0	0	0	0	11	91				
OR56B1	387748	broad.mit.edu	37	11	5758256	5758256	+	Silent	SNP	G	G	T	rs149260229		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:5758256G>T	ENST00000317121.3	+	1	576	c.510G>T	c.(508-510)gtG>gtT	p.V170V	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGTGCCTGTGCTTGCAGCAC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		22362	0.001		0.0	False		,,,				2504	0.0					uc001mbt.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(508-510)GTG>GTT		olfactory receptor, family 56, subfamily B,							138.0	119.0	126.0					11																	5758256		2201	4297	6498	SO:0001819	synonymous_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758256G>T	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.510G>T	11.37:g.5758256G>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.V170V|OR56B1_uc009yev.1_Silent_p.V170V	p.V170V	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	510	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	170			Extracellular (Potential).		B2RNY6|B3KV42|Q6IF76	Silent	SNP	ENST00000317121.3	37	c.510G>T	CCDS31395.1																																																																																				0.473	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		17	88	1	0	1.15e-07	1.48e-07	17	88				
LMO1	4004	broad.mit.edu	37	11	8252036	8252036	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:8252036G>C	ENST00000335790.3	-	2	536	c.41C>G	c.(40-42)tCc>tGc	p.S14C	LMO1_ENST00000534484.1_Missense_Mutation_p.S3C|LMO1_ENST00000428101.2_Missense_Mutation_p.S13C	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	14					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCTGGACGGAGAGCATCGG	0.592			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																uc001mgg.1		NA	yes	Dom	yes		11	11p15	4004	T|A	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	T-ALL|neuroblastoma		0					0						c.(40-42)TCC>TGC		LIM domain only 1							98.0	104.0	102.0					11																	8252036		2197	4295	6492	SO:0001583	missense	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8252036G>C	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.41C>G	11.37:g.8252036G>C	ENSP00000338207:p.Ser14Cys					LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Missense_Mutation_p.S13C	p.S14C	NM_002315	NP_002306	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	2	538	-			14					E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	ENST00000335790.3	37	c.41C>G	CCDS44534.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764799	0.90020	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	T;T;T	0.33438	1.41;1.41;1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.77313	2.365	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.55785	0.706;0.784	T	0.56189	-0.8020	10	0.59425	D	0.04	.	17.275	0.87112	0.0:0.0:1.0:0.0	.	13;14	E9PSF5;P25800	.;RBTN1_HUMAN	C	14;13;3	ENSP00000338207:S14C;ENSP00000404538:S13C;ENSP00000435456:S3C	ENSP00000338207:S14C	S	-	2	0	LMO1	8208612	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.524000	0.81866	2.533000	0.85409	0.655000	0.94253	TCC		0.592	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		15	143	0	0	0	0	15	143				
OR4C11	219429	broad.mit.edu	37	11	55371657	55371657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:55371657A>G	ENST00000302231.4	-	1	217	c.193T>C	c.(193-195)Tcc>Ccc	p.S65P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCTGCAAAGGACAAATAAAAT	0.403																																						uc010rii.1		NA																	0				ovary(1)	1						c.(193-195)TCC>CCC		olfactory receptor, family 4, subfamily C,							78.0	75.0	76.0					11																	55371657		2178	3997	6175	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371657A>G	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.193T>C	11.37:g.55371657A>G	ENSP00000306651:p.Ser65Pro						p.S65P	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	193	-			65			Helical; Name=2; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.193T>C	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359363	0.24598	.	.	ENSG00000172188	ENST00000302231	T	0.12255	2.7	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000184	T	0.52645	0.1747	H	0.98594	4.275	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60989	-0.7153	10	0.87932	D	0	.	11.7877	0.52051	1.0:0.0:0.0:0.0	.	65	Q6IEV9	OR4CB_HUMAN	P	65	ENSP00000306651:S65P	ENSP00000306651:S65P	S	-	1	0	OR4C11	55128233	0.022000	0.18835	0.185000	0.23176	0.006000	0.05464	0.548000	0.23314	1.962000	0.57031	0.391000	0.25812	TCC		0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		9	84	0	0	0	0	9	84				
SLC22A10	387775	broad.mit.edu	37	11	63066443	63066443	+	Missense_Mutation	SNP	G	G	T	rs201960398		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:63066443G>T	ENST00000332793.6	+	5	884	c.882G>T	c.(880-882)gaG>gaT	p.E294D	SLC22A10_ENST00000535888.1_Missense_Mutation_p.E84D|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000544661.1_Missense_Mutation_p.E139D|SLC22A10_ENST00000526800.1_Missense_Mutation_p.E134D	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	294						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AACTAGATGAGGGCTTAAAGG	0.413																																						uc009yor.2		NA																	0				ovary(2)	2						c.(880-882)GAG>GAT		solute carrier family 22, member 10							112.0	105.0	107.0					11																	63066443		1945	4153	6098	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63066443G>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.882G>T	11.37:g.63066443G>T	ENSP00000327569:p.Glu294Asp					SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.E134D	p.E294D	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			5	1090	+			294			Extracellular (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.882G>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856614	0.32791	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793;ENST00000526800	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-0.48	3.46	-0.112	0.13572	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.908851	0.09336	U	0.816227	T	0.69833	0.3155	L	0.58354	1.805	0.09310	N	1	P;B	0.37141	0.584;0.222	B;B	0.38056	0.264;0.139	T	0.61023	-0.7146	10	0.56958	D	0.05	.	2.8565	0.05573	0.3818:0.0:0.4007:0.2175	.	134;294	E9PJB1;Q63ZE4	.;S22AA_HUMAN	D	84;139;294;134	ENSP00000444602:E84D;ENSP00000445667:E139D;ENSP00000327569:E294D;ENSP00000433908:E134D	ENSP00000327569:E294D	E	+	3	2	SLC22A10	62823019	0.071000	0.21146	0.099000	0.21106	0.541000	0.35023	0.227000	0.17795	0.184000	0.20083	0.454000	0.30748	GAG		0.413	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		8	61	1	0	1.13e-05	1.44e-05	8	61				
LTBP3	4054	broad.mit.edu	37	11	65319552	65319552	+	Silent	SNP	G	G	A	rs111330939		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:65319552G>A	ENST00000301873.5	-	8	1690	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	LTBP3_ENST00000322147.4_Silent_p.G474G|LTBP3_ENST00000536982.1_Silent_p.G100G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	474					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGTCACTCTCGCCCTGAATGG	0.597											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oej.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(1420-1422)GGC>GGT		latent transforming growth factor beta binding							151.0	155.0	153.0					11																	65319552		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65319552G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1422C>T	11.37:g.65319552G>A			OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.G357G|LTBP3_uc001oei.2_Silent_p.G474G|LTBP3_uc010roj.1_Silent_p.G175G|LTBP3_uc010rok.1_Silent_p.G385G	p.G474G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			8	1691	-			474					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.1422C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553695	0.03996	.	.	ENSG00000168056	ENST00000526927	.	.	.	3.85	-7.7	0.01259	.	.	.	.	.	.	.	.	.	.	.	0.38161	D	0.939033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2383	0.00189	0.3248:0.203:0.1411:0.3311	.	.	.	.	X	125	.	.	R	-	1	2	LTBP3	65076128	0.000000	0.05858	0.468000	0.27192	0.289000	0.27227	-4.179000	0.00279	-1.670000	0.01468	-1.112000	0.02068	CGA		0.597	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		11	136	0	0	0	0	11	136				
ARRB1	408	broad.mit.edu	37	11	74989766	74989766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:74989766G>A	ENST00000420843.2	-	8	602	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	ARRB1_ENST00000393505.4_Missense_Mutation_p.R169W|ARRB1_ENST00000360025.3_Missense_Mutation_p.R169W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	169					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGAACCTTCCGGATGACCAGA	0.592																																						uc001owe.1		NA																	0				breast(2)	2						c.(505-507)CGG>TGG		arrestin beta 1 isoform A							116.0	111.0	113.0					11																	74989766		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74989766G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.505C>T	11.37:g.74989766G>A	ENSP00000409581:p.Arg169Trp					ARRB1_uc001owf.1_Missense_Mutation_p.R169W	p.R169W	NM_004041	NP_004032	P49407	ARRB1_HUMAN			8	727	-			169	R->E: Constitutive active; enables phosphorylation-independent binding to GPCRs.				B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.505C>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566775	0.65651	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.98	4.04	0.47022	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.59487	0.2197	H	0.94771	3.58	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67852	-0.5563	10	0.87932	D	0	-10.2749	10.4145	0.44314	0.0:0.0:0.5946:0.4054	.	169;169	P49407-2;P49407	.;ARRB1_HUMAN	W	169;169;169;164	ENSP00000409581:R169W;ENSP00000377141:R169W;ENSP00000353124:R169W;ENSP00000433171:R164W	ENSP00000353124:R169W	R	-	1	2	ARRB1	74667414	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.821000	0.48065	1.011000	0.39340	0.462000	0.41574	CGG		0.592	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		19	138	0	0	0	0	19	138				
GRM5	2915	broad.mit.edu	37	11	88583210	88583210	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:88583210T>C	ENST00000305447.4	-	2	924	c.775A>G	c.(775-777)Aag>Gag	p.K259E	GRM5_ENST00000418177.2_Missense_Mutation_p.K259E|GRM5_ENST00000455756.2_Missense_Mutation_p.K259E|GRM5_ENST00000305432.5_Missense_Mutation_p.K259E|GRM5_ENST00000393297.1_Missense_Mutation_p.K259E	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	259					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTCAGCAGCTTATCAAAGCTC	0.532																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(775-777)AAG>GAG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						35.0	36.0	36.0					11																	88583210		2201	4296	6497	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583210T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.775A>G	11.37:g.88583210T>C	ENSP00000306138:p.Lys259Glu					GRM5_uc009yvm.2_Missense_Mutation_p.K259E	p.K259E	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			2	975	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	259			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.775A>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.403940	0.62288	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.115808	0.56097	D	0.000026	T	0.82254	0.4997	L	0.36672	1.1	0.39499	D	0.968167	B;P	0.50819	0.372;0.939	B;P	0.51453	0.121;0.67	T	0.82178	-0.0586	9	.	.	.	.	15.4226	0.75025	0.0:0.0:0.0:1.0	.	259;259	P41594-2;P41594	.;GRM5_HUMAN	E	259	ENSP00000402912:K259E;ENSP00000405690:K259E;ENSP00000305905:K259E;ENSP00000306138:K259E;ENSP00000376975:K259E	.	K	-	1	0	GRM5	88222858	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.135000	0.42112	2.046000	0.60703	0.460000	0.39030	AAG		0.532	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		5	50	0	0	0	0	5	50				
NAALAD2	10003	broad.mit.edu	37	11	89868742	89868742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:89868742C>T	ENST00000534061.1	+	2	328	c.98C>T	c.(97-99)cCt>cTt	p.P33L	NAALAD2_ENST00000321955.4_Missense_Mutation_p.P33L|NAALAD2_ENST00000375944.3_Missense_Mutation_p.P33L|NAALAD2_ENST00000525171.1_Missense_Mutation_p.P33L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	33					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATTAAGCCTCTCAAAGAA	0.378																																						uc001pdf.3		NA																	0				pancreas(1)|skin(1)	2						c.(97-99)CCT>CTT		N-acetylated alpha-linked acidic dipeptidase 2							98.0	98.0	98.0					11																	89868742		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868742C>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.98C>T	11.37:g.89868742C>T	ENSP00000432481:p.Pro33Leu					NAALAD2_uc009yvx.2_Missense_Mutation_p.P33L|NAALAD2_uc009yvy.2_Missense_Mutation_p.P33L|NAALAD2_uc001pdd.2_Missense_Mutation_p.P33L|NAALAD2_uc001pde.2_Missense_Mutation_p.P33L	p.P33L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			2	207	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	33			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.98C>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091760	0.55968	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T;T	0.55413	0.52;1.35;1.47;0.94;2.74	5.12	5.12	0.69794	.	0.072390	0.64402	D	0.000017	T	0.56848	0.2013	M	0.81802	2.56	0.80722	D	1	B;B;B;B;B	0.19200	0.005;0.003;0.006;0.034;0.031	B;B;B;B;B	0.24394	0.009;0.009;0.019;0.017;0.053	T	0.54774	-0.8243	9	.	.	.	-17.7953	15.4091	0.74902	0.0:1.0:0.0:0.0	.	33;33;33;33;33	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	L	33	ENSP00000431989:P33L;ENSP00000432481:P33L;ENSP00000320083:P33L;ENSP00000435249:P33L;ENSP00000365111:P33L	.	P	+	2	0	NAALAD2	89508390	0.989000	0.36119	0.999000	0.59377	0.913000	0.54294	3.754000	0.55189	2.658000	0.90341	0.655000	0.94253	CCT		0.378	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		4	37	0	0	0	0	4	37				
C2CD2L	9854	broad.mit.edu	37	11	118984985	118984985	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:118984985G>T	ENST00000528586.1	+	9	1133	c.1063G>T	c.(1063-1065)Gat>Tat	p.D355Y	C2CD2L_ENST00000336702.3_Missense_Mutation_p.D608Y			O14523	C2C2L_HUMAN	C2CD2-like	607						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AACCCGTTCGGATATTTCTGA	0.572																																						uc001pvo.2		NA																	0					0						c.(1819-1821)GAT>TAT		transmembrane protein 24							129.0	131.0	130.0					11																	118984985		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984985G>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.1063G>T	11.37:g.118984985G>T	ENSP00000433600:p.Asp355Tyr					C2CD2L_uc001pvn.2_Missense_Mutation_p.D608Y	p.D607Y	NM_014807	NP_055622	O14523	C2C2L_HUMAN			13	2178	+			607					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1819G>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.579260	0.86645	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.60040	0.22;0.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73852	-0.3852	10	0.87932	D	0	-14.2089	18.3582	0.90365	0.0:0.0:1.0:0.0	.	607;608	O14523;O14523-2	C2C2L_HUMAN;.	Y	608;355	ENSP00000338885:D608Y;ENSP00000433600:D355Y	ENSP00000338885:D608Y	D	+	1	0	C2CD2L	118490195	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	9.025000	0.93694	2.798000	0.96311	0.655000	0.94253	GAT		0.572	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		11	142	1	0	1.09e-07	1.4e-07	11	142				
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	C	T	rs147550190		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:124487352C>T	ENST00000284288.2	+	3	574	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	169					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.S169S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20793	0.0		0.001	False		,,,				2504	0.0					uc001qah.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(505-507)TCC>TCT		pannexin 3		C		1,4401	2.1+/-5.4	0,1,2200	97.0	92.0	93.0		507	-10.0	0.2	11	dbSNP_134	93	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PANX3	NM_052959.2		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		169/393	124487352	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124487352C>T	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.507C>T	11.37:g.124487352C>T							p.S169S	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	3	507	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	169			Cytoplasmic (Potential).			Silent	SNP	ENST00000284288.2	37	c.507C>T	CCDS8447.1																																																																																				0.458	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			19	105	0	0	0	0	19	105				
GALNT8	26290	broad.mit.edu	37	12	4874614	4874614	+	Missense_Mutation	SNP	C	C	T	rs148196108	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:4874614C>T	ENST00000252318.2	+	10	2000	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	555	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTAGTGATCGCTGCCTGAC	0.438													C|||	3	0.000599042	0.0	0.0	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.0031				Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1663-1665)CGC>TGC		polypeptide N-acetylgalactosaminyltransferase 8		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	104.0	100.0	101.0		1663	2.2	0.0	12	dbSNP_134	101	0,8600		0,0,4300	no	missense	GALNT8	NM_017417.1	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	555/638	4874614	3,13003	2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874614C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1663C>T	12.37:g.4874614C>T	ENSP00000252318:p.Arg555Cys						p.R555C	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			10	1755	+			555			Ricin B-type lectin.|Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1663C>T	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553557	0.27739	6.81E-4	0.0	ENSG00000130035	ENST00000252318	T	0.31247	1.5	4.04	2.19	0.27852	Ricin B-related lectin (1);Ricin B lectin (3);	0.270337	0.36893	N	0.002357	T	0.24851	0.0603	M	0.67397	2.05	0.09310	N	0.999999	P	0.35612	0.512	B	0.25884	0.064	T	0.22068	-1.0227	10	0.87932	D	0	.	6.5266	0.22305	0.0:0.7736:0.0:0.2264	.	555	Q9NY28	GALT8_HUMAN	C	555	ENSP00000252318:R555C	ENSP00000252318:R555C	R	+	1	0	GALNT8	4744875	0.000000	0.05858	0.042000	0.18584	0.201000	0.24016	0.110000	0.15437	0.359000	0.24239	0.655000	0.94253	CGC		0.438	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		4	47	0	0	0	0	4	47				
PZP	5858	broad.mit.edu	37	12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T	rs199878433		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:9304243C>T	ENST00000261336.2	-	33	4266	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_ENST00000381997.2_Missense_Mutation_p.R1199Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1413					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4237-4239)CGG>CAG		pregnancy-zone protein precursor							81.0	64.0	70.0					12																	9304243		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9304243C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4238G>A	12.37:g.9304243C>T	ENSP00000261336:p.Arg1413Gln					PZP_uc009zgl.2_Missense_Mutation_p.R1199Q	p.R1413Q	NM_002864	NP_002855					33	4267	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4238G>A	CCDS8600.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.24	3.580077	0.65992	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.25912	1.77;1.77	3.47	3.47	0.39725	Alpha-macroglobulin, receptor-binding (3);	0.076525	0.43260	U	0.000591	T	0.53222	0.1783	M	0.87328	2.875	0.26396	N	0.9765	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	T	0.47983	-0.9074	10	0.56958	D	0.05	.	12.72	0.57137	0.0:1.0:0.0:0.0	.	1199;1413	P20742-2;P20742	.;PZP_HUMAN	Q	1413;1199	ENSP00000261336:R1413Q;ENSP00000371427:R1199Q	ENSP00000261336:R1413Q	R	-	2	0	PZP	9195510	0.000000	0.05858	0.282000	0.24776	0.635000	0.38103	0.504000	0.22626	2.249000	0.74217	0.462000	0.41574	CGG		0.443	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		5	33	0	0	0	0	5	33				
MRPS35	60488	broad.mit.edu	37	12	27869315	27869315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:27869315C>T	ENST00000081029.3	+	3	316	c.245C>T	c.(244-246)cCt>cTt	p.P82L	MRPS35_ENST00000538315.1_Missense_Mutation_p.P82L	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTGCAGTACCTCTTCCTGTT	0.448																																						uc001rih.2		NA																	0					0						c.(244-246)CCT>CTT		mitochondrial ribosomal protein S35 precursor							98.0	91.0	93.0					12																	27869315		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27869315C>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.245C>T	12.37:g.27869315C>T	ENSP00000081029:p.Pro82Leu					MRPS35_uc001rii.2_Missense_Mutation_p.P82L	p.P82L	NM_021821	NP_068593	P82673	RT35_HUMAN			3	293	+	Lung SC(9;0.0873)		82					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.245C>T	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468593	0.84533	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.62788	-0.0;0.01	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.79361	-0.1835	10	0.87932	D	0	-23.2999	12.1573	0.54085	0.0:0.9217:0.0:0.0783	.	82;82	P82673-2;P82673	.;RT35_HUMAN	L	82	ENSP00000081029:P82L;ENSP00000445390:P82L	ENSP00000081029:P82L	P	+	2	0	MRPS35	27760582	1.000000	0.71417	0.996000	0.52242	0.880000	0.50808	7.220000	0.78008	1.481000	0.48307	0.655000	0.94253	CCT		0.448	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		5	42	0	0	0	0	5	42				
PUS7L	83448	broad.mit.edu	37	12	44148515	44148515	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:44148515G>A	ENST00000416848.2	-	2	1022	c.534C>T	c.(532-534)gcC>gcT	p.A178A	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.A178A|PUS7L_ENST00000551923.1_Silent_p.A178A|PUS7L_ENST00000344862.5_Silent_p.A178A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	178					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)		TCTGCCTAATGGCACTGTGTA	0.358																																						uc001rnq.3		NA																	0				pancreas(1)	1						c.(532-534)GCC>GCT		pseudouridylate synthase 7 homolog (S.							99.0	98.0	99.0					12																	44148515		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148515G>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.534C>T	12.37:g.44148515G>A						PUS7L_uc001rnr.3_Silent_p.A178A|PUS7L_uc001rns.3_Silent_p.A178A|PUS7L_uc009zkb.2_Intron	p.A178A	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1023	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	178					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.534C>T	CCDS8743.1																																																																																				0.358	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		10	83	0	0	0	0	10	83				
DNAJC14	85406	broad.mit.edu	37	12	56221562	56221562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:56221562C>T	ENST00000357606.3	-	3	1170	c.881G>A	c.(880-882)tGg>tAg	p.W294*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W294*|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W294*|RP11-762I7.5_ENST00000546837.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	294					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCGCCCTGTCCACACTCCCAT	0.498																																						uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(880-882)TGG>TAG		dopamine receptor interacting protein							85.0	80.0	81.0					12																	56221562		2203	4300	6503	SO:0001587	stop_gained	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221562C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.881G>A	12.37:g.56221562C>T	ENSP00000350223:p.Trp294*					DNAJC14_uc001shu.1_Nonsense_Mutation_p.W294*|DNAJC14_uc009zob.1_Nonsense_Mutation_p.W294*|DNAJC14_uc001shy.1_Nonsense_Mutation_p.W294*	p.W294*	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	1085	-			294					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	c.881G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251998	0.80135	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.	.	.	5.18	4.29	0.51040	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.4056	7.0468	0.25050	0.1703:0.7414:0.0:0.0883	.	.	.	.	X	294;294;4;294	.	.	W	-	2	0	DNAJC14	54507829	0.995000	0.38212	0.664000	0.29753	0.008000	0.06430	2.564000	0.45931	1.317000	0.45149	-0.140000	0.14226	TGG		0.498	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		9	89	0	0	0	0	9	89				
GAS2L3	283431	broad.mit.edu	37	12	100995424	100995424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:100995424G>A	ENST00000539410.1	+	4	582	c.196G>A	c.(196-198)Gtt>Att	p.V66I	GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Missense_Mutation_p.V66I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.V66I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	66	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTATTAAAGTTAAGGCAGA	0.269																																						uc001thu.2		NA																	0				skin(1)	1						c.(196-198)GTT>ATT		growth arrest-specific 2 like 3							89.0	96.0	94.0					12																	100995424		2203	4292	6495	SO:0001583	missense	283431				cell cycle arrest			g.chr12:100995424G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.196G>A	12.37:g.100995424G>A	ENSP00000439672:p.Val66Ile					GAS2L3_uc009zty.2_Missense_Mutation_p.V66I|GAS2L3_uc001thv.2_5'UTR	p.V66I	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			5	422	+			66			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.196G>A	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	3.292	-0.144776	0.06627	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000539410	D;D;D	0.95069	-3.6;-3.6;-3.6	5.57	0.867	0.19085	Calponin homology domain (5);	0.260908	0.37715	N	0.001970	T	0.78419	0.4280	N	0.01789	-0.72	0.23798	N	0.996811	B	0.13594	0.008	B	0.17979	0.02	T	0.69075	-0.5241	10	0.02654	T	1	-6.3936	6.1397	0.20253	0.3428:0.1206:0.5366:0.0	.	66	Q86XJ1	GA2L3_HUMAN	I	66	ENSP00000266754:V66I;ENSP00000448955:V66I;ENSP00000439672:V66I	ENSP00000266754:V66I	V	+	1	0	GAS2L3	99519555	0.998000	0.40836	0.989000	0.46669	0.969000	0.65631	0.588000	0.23924	-0.111000	0.12001	-0.140000	0.14226	GTT		0.269	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		11	82	0	0	0	0	11	82				
GAS2L3	283431	broad.mit.edu	37	12	101017977	101017977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:101017977G>A	ENST00000539410.1	+	9	1780	c.1394G>A	c.(1393-1395)tGt>tAt	p.C465Y	GAS2L3_ENST00000537247.1_Missense_Mutation_p.C361Y|GAS2L3_ENST00000547754.1_Missense_Mutation_p.C465Y|GAS2L3_ENST00000266754.5_Missense_Mutation_p.C465Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	465					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAATAAGTGTTCAGGAAAA	0.403																																						uc001thu.2		NA																	0				skin(1)	1						c.(1393-1395)TGT>TAT		growth arrest-specific 2 like 3							73.0	77.0	76.0					12																	101017977		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017977G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1394G>A	12.37:g.101017977G>A	ENSP00000439672:p.Cys465Tyr					GAS2L3_uc009zty.2_Missense_Mutation_p.C465Y|GAS2L3_uc001thv.2_Missense_Mutation_p.C361Y	p.C465Y	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	1620	+			465					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1394G>A	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.129397	0.00342	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.84	1.21	0.21127	.	0.993214	0.08189	N	0.984192	T	0.08802	0.0218	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37478	-0.9704	10	0.05436	T	0.98	-0.0147	2.7423	0.05257	0.1668:0.36:0.3167:0.1564	.	465	Q86XJ1	GA2L3_HUMAN	Y	465;465;361;465	ENSP00000266754:C465Y;ENSP00000448955:C465Y;ENSP00000442406:C361Y;ENSP00000439672:C465Y	ENSP00000266754:C465Y	C	+	2	0	GAS2L3	99542108	0.000000	0.05858	0.009000	0.14445	0.374000	0.29953	0.176000	0.16782	0.306000	0.22856	0.650000	0.86243	TGT		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		8	94	0	0	0	0	8	94				
TCP11L2	255394	broad.mit.edu	37	12	106708250	106708250	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:106708250A>G	ENST00000299045.3	+	3	446	c.272A>G	c.(271-273)cAa>cGa	p.Q91R	TCP11L2_ENST00000546625.1_Missense_Mutation_p.Q91R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.Q91R	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	91										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CAATTGAAACAAGAGGCTCTC	0.413																																						uc001tln.2		NA																	0				ovary(3)	3						c.(271-273)CAA>CGA		t-complex 11 (mouse) like 2							69.0	72.0	71.0					12																	106708250		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106708250A>G	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.272A>G	12.37:g.106708250A>G	ENSP00000299045:p.Gln91Arg					TCP11L2_uc001tll.2_Missense_Mutation_p.Q91R|TCP11L2_uc001tlm.2_Missense_Mutation_p.Q91R	p.Q91R	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			3	446	+			91					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.272A>G	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463313	0.26248	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	T;T;T;T;T;T	0.29655	2.77;2.77;2.77;2.77;2.77;1.56	5.82	4.66	0.58398	.	0.394486	0.31760	N	0.007105	T	0.26085	0.0636	L	0.46157	1.445	0.27230	N	0.959436	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.002	T	0.17319	-1.0373	10	0.42905	T	0.14	-4.983	8.4295	0.32748	0.799:0.1328:0.0682:0.0	.	91;91;91	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	R	91	ENSP00000448952:Q91R;ENSP00000299045:Q91R;ENSP00000449123:Q91R;ENSP00000448629:Q91R;ENSP00000447174:Q91R;ENSP00000447457:Q91R	ENSP00000299045:Q91R	Q	+	2	0	TCP11L2	105232380	0.991000	0.36638	0.754000	0.31244	0.521000	0.34408	3.469000	0.53093	0.994000	0.38892	0.533000	0.62120	CAA		0.413	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		8	44	0	0	0	0	8	44				
RASAL1	8437	broad.mit.edu	37	12	113553852	113553852	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:113553852T>C	ENST00000261729.5	-	10	1051	c.736A>G	c.(736-738)Aac>Gac	p.N246D	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.N246D|RASAL1_ENST00000446861.3_Missense_Mutation_p.N246D|RASAL1_ENST00000546530.1_Missense_Mutation_p.N246D			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	246					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCACCCAGGTTCCCCCTGTCC	0.572																																						uc001tum.1		NA																	0				ovary(2)|skin(2)	4						c.(736-738)AAC>GAC		RAS protein activator like 1							58.0	57.0	57.0					12																	113553852		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553852T>C	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.736A>G	12.37:g.113553852T>C	ENSP00000261729:p.Asn246Asp					RASAL1_uc010syp.1_Missense_Mutation_p.N246D|RASAL1_uc001tul.2_Missense_Mutation_p.N246D|RASAL1_uc001tun.1_Missense_Mutation_p.N246D|RASAL1_uc010syq.1_Missense_Mutation_p.N246D|RASAL1_uc001tuo.3_Missense_Mutation_p.N246D|RASAL1_uc010syr.1_Missense_Mutation_p.N246D	p.N246D	NM_004658	NP_004649	O95294	RASL1_HUMAN			10	1029	-			246					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.736A>G	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	T	0.051	-1.249102	0.01469	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.98	-2.72	0.05968	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	2.018110	0.01650	N	0.024485	T	0.56411	0.1983	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B;B	0.12013	0.003;0.001;0.005;0.003;0.002;0.001;0.005	B;B;B;B;B;B;B	0.13407	0.003;0.003;0.007;0.003;0.009;0.004;0.007	T	0.50808	-0.8784	10	0.12103	T	0.63	.	3.8968	0.09143	0.1212:0.0721:0.3759:0.4308	.	246;246;246;258;246;246;246	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	246	ENSP00000450244:N246D;ENSP00000261729:N246D;ENSP00000395920:N246D;ENSP00000448510:N246D	ENSP00000261729:N246D	N	-	1	0	RASAL1	112038235	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.619000	0.24388	-0.268000	0.09312	0.397000	0.26171	AAC		0.572	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		4	51	0	0	0	0	4	51				
KDM2B	84678	broad.mit.edu	37	12	122012498	122012498	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122012498C>T	ENST00000377071.4	-	4	423	c.351G>A	c.(349-351)aaG>aaA	p.K117K	KDM2B_ENST00000538046.2_Splice_Site_p.K117K|KDM2B_ENST00000377069.4_Splice_Site_p.K86K|KDM2B_ENST00000536437.1_5'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	117					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCAGGCATCCTGGGGAAAG	0.542																																						uc001uat.2		NA																	0				ovary(1)|skin(1)	2						c.(349-351)AAG>AAA		F-box and leucine-rich repeat protein 10 isoform							76.0	78.0	78.0					12																	122012498		1977	4161	6138	SO:0001630	splice_region_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122012498C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.351-1G>A	12.37:g.122012498C>T						KDM2B_uc001uas.2_Silent_p.K86K|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Silent_p.K117K	p.K117K	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			4	455	-			117					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.351G>A	CCDS41850.1																																																																																				0.542	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	Silent	6	66	0	0	0	0	6	66				
WDR66	144406	broad.mit.edu	37	12	122386953	122386953	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122386953A>G	ENST00000288912.4	+	8	2109	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	WDR66_ENST00000397454.2_Missense_Mutation_p.I419V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	419							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACACGGGCAATATATTATGC	0.274																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(1255-1257)ATA>GTA		WD repeat domain 66							75.0	75.0	75.0					12																	122386953		1811	4051	5862	SO:0001583	missense	144406						calcium ion binding	g.chr12:122386953A>G	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1255A>G	12.37:g.122386953A>G	ENSP00000288912:p.Ile419Val						p.I419V	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	8	1397	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		419			WD 3.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1255A>G	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004371	0.35320	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.05081	3.51;3.5	5.69	0.153	0.14897	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.260971	0.38663	N	0.001602	T	0.05181	0.0138	L	0.42686	1.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.38436	-0.9661	10	0.26408	T	0.33	.	7.3722	0.26808	0.6737:0.12:0.2063:0.0	.	419	Q8TBY9	WDR66_HUMAN	V	419	ENSP00000288912:I419V;ENSP00000380595:I419V	ENSP00000288912:I419V	I	+	1	0	WDR66	120871336	0.105000	0.21958	0.021000	0.16686	0.819000	0.46315	0.465000	0.22004	0.103000	0.17682	0.528000	0.53228	ATA		0.274	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		7	59	0	0	0	0	7	59				
PABPC3	5042	broad.mit.edu	37	13	25671496	25671496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:25671496C>T	ENST00000281589.3	+	1	1197	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	387					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGAGAATGGCAAGTGTACGA	0.502																																						uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(1159-1161)GCA>GTA		poly(A) binding protein, cytoplasmic 3							162.0	147.0	152.0					13																	25671496		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671496C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1160C>T	13.37:g.25671496C>T	ENSP00000281589:p.Ala387Val						p.A387V	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1221	+		Lung SC(185;0.0225)|Breast(139;0.0602)	387					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1160C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217693	0.39201	.	.	ENSG00000151846	ENST00000281589	T	0.32515	1.45	1.41	1.41	0.22369	.	0.000000	0.46758	U	0.000274	T	0.43277	0.1240	M	0.84846	2.72	0.53005	D	0.999961	P	0.51057	0.941	P	0.50537	0.643	T	0.46830	-0.9163	10	0.56958	D	0.05	.	8.3066	0.32047	0.0:1.0:0.0:0.0	.	387	Q9H361	PABP3_HUMAN	V	387	ENSP00000281589:A387V	ENSP00000281589:A387V	A	+	2	0	PABPC3	24569496	1.000000	0.71417	0.978000	0.43139	0.109000	0.19521	5.304000	0.65744	0.759000	0.33084	0.313000	0.20887	GCA		0.502	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		11	122	0	0	0	0	11	122				
FLT1	2321	broad.mit.edu	37	13	28895620	28895620	+	Missense_Mutation	SNP	C	C	T	rs374177896		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:28895620C>T	ENST00000282397.4	-	23	3405	c.3154G>A	c.(3154-3156)Gat>Aat	p.D1052N	FLT1_ENST00000543394.1_Missense_Mutation_p.D75N|FLT1_ENST00000540678.1_Missense_Mutation_p.D270N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1052	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACATAATCGGGGTTCTTA	0.393																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3154-3156)GAT>AAT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)	C	ASN/ASP	0,4406		0,0,2203	120.0	120.0	120.0		3154	5.8	1.0	13		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLT1	NM_002019.4	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1052/1339	28895620	1,13005	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28895620C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3154G>A	13.37:g.28895620C>T	ENSP00000282397:p.Asp1052Asn					FLT1_uc010aap.2_Missense_Mutation_p.D57N|FLT1_uc010aaq.2_Missense_Mutation_p.D177N|FLT1_uc001usa.3_Missense_Mutation_p.D270N	p.D1052N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	23	3439	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1052			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3154G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239965	0.95240	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.82081	-1.57;-1.57;-1.57	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	N	0.04746	-0.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73920	-0.3830	10	0.05525	T	0.97	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	1052	P17948	VGFR1_HUMAN	N	1052;75;270	ENSP00000282397:D1052N;ENSP00000437841:D75N;ENSP00000443311:D270N	ENSP00000282397:D1052N	D	-	1	0	FLT1	27793620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.993000	0.70616	2.779000	0.95612	0.655000	0.94253	GAT		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			5	110	0	0	0	0	5	110				
CPB2	1361	broad.mit.edu	37	13	46627851	46627851	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:46627851G>A	ENST00000181383.4	-	11	1186	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	CPB2-AS1_ENST00000415033.2_RNA|ZC3H13_ENST00000282007.3_5'Flank|CPB2_ENST00000439329.3_Intron|ZC3H13_ENST00000242848.4_5'Flank|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	390					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCCGTATGTGCCCGTATCTC	0.438																																						uc001vaw.2		NA																	0				ovary(1)|skin(1)	2						c.(1168-1170)GGC>GGT		plasma carboxypeptidase B2 isoform a							116.0	116.0	116.0					13																	46627851		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46627851G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1170C>T	13.37:g.46627851G>A						uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Intron|ZC3H13_uc001vas.1_5'Flank|ZC3H13_uc001vat.1_5'Flank	p.G390G	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	11	1237	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	390					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.1170C>T	CCDS9401.1																																																																																				0.438	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		12	70	0	0	0	0	12	70				
PCDH17	27253	broad.mit.edu	37	13	58208829	58208829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:58208829A>G	ENST00000377918.3	+	1	2175	c.2149A>G	c.(2149-2151)Atc>Gtc	p.I717V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACTATCTCCATCATCCTCCT	0.607																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2149-2151)ATC>GTC		protocadherin 17 precursor							78.0	76.0	77.0					13																	58208829		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208829A>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2149A>G	13.37:g.58208829A>G	ENSP00000367151:p.Ile717Val					PCDH17_uc010aec.1_Missense_Mutation_p.I717V	p.I717V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3041	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	717			Helical; (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2149A>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	0.974	-0.699117	0.03279	.	.	ENSG00000118946	ENST00000377918	T	0.49139	0.79	5.46	4.21	0.49690	.	0.103731	0.64402	D	0.000003	T	0.29850	0.0746	N	0.16478	0.41	0.39864	D	0.973428	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.004	T	0.11891	-1.0569	9	.	.	.	.	12.1487	0.54038	0.8571:0.1429:0.0:0.0	.	717;717	O14917-2;O14917	.;PCD17_HUMAN	V	717	ENSP00000367151:I717V	.	I	+	1	0	PCDH17	57106830	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.250000	0.58772	2.064000	0.61679	0.533000	0.62120	ATC		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	71	0	0	0	0	7	71				
DIAPH3	81624	broad.mit.edu	37	13	60544103	60544103	+	Missense_Mutation	SNP	C	C	G	rs372054806		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:60544103C>G	ENST00000400324.4	-	17	2269	c.2049G>C	c.(2047-2049)gaG>gaC	p.E683D	DIAPH3_ENST00000267215.4_Missense_Mutation_p.E683D|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E683D|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E637D|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E613D|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E672D	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	683	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAATGTATTCTCAAGTTTAC	0.254																																						uc001vht.2		NA																	0				ovary(2)	2						c.(2047-2049)GAG>GAC		diaphanous homolog 3 isoform a							67.0	62.0	64.0					13																	60544103		1808	4063	5871	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60544103C>G	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2049G>C	13.37:g.60544103C>G	ENSP00000383178:p.Glu683Asp					DIAPH3_uc001vhu.2_Missense_Mutation_p.E420D|DIAPH3_uc001vhv.2_Missense_Mutation_p.E261D	p.E683D	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	17	2268	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	683			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.2049G>C	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571986	0.45798	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.58	1.84	0.25277	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.137172	0.49305	D	0.000156	T	0.38214	0.1032	L	0.52126	1.63	0.26682	N	0.971518	D;P;D	0.63046	0.967;0.724;0.992	P;P;D	0.76071	0.581;0.467;0.987	T	0.09840	-1.0656	10	0.34782	T	0.22	.	8.5905	0.33684	0.0:0.5853:0.0:0.4147	.	420;420;683	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	D	683;683;672;637;613;672;613;637;683;420;683	ENSP00000383178:E683D;ENSP00000383184:E683D;ENSP00000367141:E672D;ENSP00000383173:E613D;ENSP00000383174:E637D;ENSP00000267215:E683D	ENSP00000267214:E420D	E	-	3	2	DIAPH3	59442104	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.841000	0.39240	0.474000	0.27392	-0.237000	0.12165	GAG		0.254	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		3	19	0	0	0	0	3	19				
EDNRB	1910	broad.mit.edu	37	13	78492516	78492516	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:78492516A>T	ENST00000334286.5	-	1	429	c.193T>A	c.(193-195)Tcg>Acg	p.S65T	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.S65T|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000377211.4_Missense_Mutation_p.S155T	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	65					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GGTGCCAACGACCGCGCCAGA	0.622																																						uc001vko.2		NA																	0					0						c.(193-195)TCG>ACG		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						76.0	78.0	77.0					13																	78492516		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492516A>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.193T>A	13.37:g.78492516A>T	ENSP00000335311:p.Ser65Thr					uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.S65T|EDNRB_uc010aez.1_Missense_Mutation_p.S65T|EDNRB_uc001vkp.1_Missense_Mutation_p.S148T|EDNRB_uc010afa.1_Missense_Mutation_p.S65T	p.S65T	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	1	451	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	65			Extracellular (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.193T>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597001	0.28445	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.71698	-0.59;-0.4;-0.53	4.04	1.61	0.23674	.	0.669254	0.15638	N	0.252056	T	0.59115	0.2170	L	0.60455	1.87	0.09310	N	1	B;B;B	0.15473	0.009;0.013;0.001	B;B;B	0.12837	0.008;0.008;0.002	T	0.47182	-0.9137	10	0.33141	T	0.24	-9.8689	2.9465	0.05847	0.6667:0.0:0.1172:0.2161	.	65;155;65	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	T	155;65;65	ENSP00000366416:S155T;ENSP00000403401:S65T;ENSP00000335311:S65T	ENSP00000335311:S65T	S	-	1	0	EDNRB	77390517	0.434000	0.25570	0.007000	0.13788	0.009000	0.06853	2.501000	0.45389	0.684000	0.31448	0.482000	0.46254	TCG		0.622	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			8	82	0	0	0	0	8	82				
ZIC2	7546	broad.mit.edu	37	13	100635244	100635244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:100635244G>C	ENST00000376335.3	+	1	1219	c.926G>C	c.(925-927)cGc>cCc	p.R309P		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	309					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTGTCCGCGCGAGGGCAAG	0.622																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	0					0						c.(925-927)CGC>CCC		zinc finger protein of the cerebellum 2							117.0	123.0	121.0					13																	100635244		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635244G>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.926G>C	13.37:g.100635244G>C	ENSP00000365514:p.Arg309Pro						p.R309P	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	926	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		309			C2H2-type 2; atypical.		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.926G>C	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649866	0.87958	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.91464	-2.85	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94394	0.8197	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.94876	0.8034	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	309	O95409	ZIC2_HUMAN	P	309;58	ENSP00000365514:R309P	ENSP00000365514:R309P	R	+	2	0	ZIC2	99433245	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	CGC		0.622	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		15	127	0	0	0	0	15	127				
COL4A1	1282	broad.mit.edu	37	13	110827095	110827095	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:110827095C>T	ENST00000375820.4	-	38	3321	c.3200G>A	c.(3199-3201)gGa>gAa	p.G1067E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1067	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGATCTCCCTGCAAGTA	0.463																																						uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3199-3201)GGA>GAA		alpha 1 type IV collagen preproprotein							147.0	158.0	155.0					13																	110827095		2203	4300	6503	SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110827095C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3199-1G>A	13.37:g.110827095C>T						COL4A1_uc010agl.2_Intron	p.G1067E	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		38	3322	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1067			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3200G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522464	0.64747	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99353	-5.77	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97264	0.9906	10	0.87932	D	0	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	1067	P02462	CO4A1_HUMAN	E	710;1067;716	ENSP00000364979:G1067E	ENSP00000364973:G710E	G	-	2	0	COL4A1	109625096	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	6.837000	0.75354	2.735000	0.93741	0.655000	0.94253	GGA		0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		Missense_Mutation	32	257	0	0	0	0	32	257				
METTL17	64745	broad.mit.edu	37	14	21464803	21464803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:21464803C>T	ENST00000339374.6	+	13	1431	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.H400Y|METTL17_ENST00000556670.2_Missense_Mutation_p.H400Y	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	400					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TCGCCATGTGCATTGTCACTT	0.577																																						uc001vyn.2		NA																	0					0						c.(1198-1200)CAT>TAT		methyltransferase 11 domain containing 1 isoform							78.0	67.0	71.0					14																	21464803		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464803C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1198C>T	14.37:g.21464803C>T	ENSP00000343041:p.His400Tyr					METT11D1_uc001vym.2_Missense_Mutation_p.H400Y|METT11D1_uc001vyo.2_Missense_Mutation_p.H400Y|METT11D1_uc001vyp.2_Missense_Mutation_p.H242Y|METT11D1_uc001vyq.2_Missense_Mutation_p.H242Y|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	p.H400Y	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	13	1395	+	all_cancers(95;0.00267)		400					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1198C>T	CCDS9562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.183448|3.183448	0.57800|0.57800	.|.	.|.	ENSG00000165792|ENSG00000165792	ENST00000556733|ENST00000339374;ENST00000382985	.|T;T	.|0.28666	.|1.6;1.6	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49983|0.49983	0.1589|0.1589	L|L	0.54323|0.54323	1.7|1.7	0.42641|0.42641	D|D	0.993412|0.993412	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.72338	.|0.961;0.977;0.961	T|T	0.35475|0.35475	-0.9787|-0.9787	5|10	.|0.31617	.|T	.|0.26	.|.	16.548|16.548	0.84454|0.84454	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|400;400;400	.|Q9H7H0-3;Q9H7H0;Q9H7H0-2	.|.;MET17_HUMAN;.	V|Y	75|400	.|ENSP00000343041:H400Y;ENSP00000372445:H400Y	.|ENSP00000343041:H400Y	A|H	+|+	2|1	0|0	METTL17|METTL17	20534643|20534643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	4.992000|4.992000	0.63889|0.63889	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.577	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		7	77	0	0	0	0	7	77				
LRP10	26020	broad.mit.edu	37	14	23346570	23346570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23346570G>A	ENST00000359591.4	+	7	2667	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	659	Pro-rich.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGGCCCTGCGAGGCCGCCTG	0.667																																						uc001whd.2		NA																	0				central_nervous_system(1)	1						c.(1975-1977)CGA>CAA		low density lipoprotein receptor-related protein							49.0	58.0	55.0					14																	23346570		2203	4299	6502	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346570G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1976G>A	14.37:g.23346570G>A	ENSP00000352601:p.Arg659Gln					LRP10_uc001whe.2_Intron	p.R659Q	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2529	+	all_cancers(95;4.69e-05)		659			Pro-rich.|Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1976G>A	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881815	0.72294	.	.	ENSG00000197324	ENST00000359591	D	0.92858	-3.12	4.97	4.97	0.65823	.	0.334270	0.26196	N	0.025774	D	0.92515	0.7623	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	P	0.54346	0.749	D	0.92425	0.5949	10	0.52906	T	0.07	-9.6082	15.5955	0.76574	0.0:0.0:1.0:0.0	.	659	Q7Z4F1	LRP10_HUMAN	Q	659	ENSP00000352601:R659Q	ENSP00000352601:R659Q	R	+	2	0	LRP10	22416410	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.271000	0.58902	2.745000	0.94114	0.462000	0.41574	CGA		0.667	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			11	91	0	0	0	0	11	91				
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23524268C>T	ENST00000267383.5	-	2	588	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	CDH24_ENST00000397359.3_Splice_Site_p.G166R|CDH24_ENST00000487137.2_Splice_Site_p.G166R|CDH24_ENST00000554034.1_Splice_Site_p.G166R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.2		NA																	0				central_nervous_system(1)	1						c.(496-498)GGG>AGG		cadherin-like 24 isoform 1							80.0	85.0	84.0					14																	23524268		2203	4300	6503	SO:0001630	splice_region_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524268C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.496+1G>A	14.37:g.23524268C>T			OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.2_Missense_Mutation_p.G166R|CDH24_uc001win.3_Missense_Mutation_p.G166R	p.G166R	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	756	-	all_cancers(95;3.3e-05)		166			Cadherin 2.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.496G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975854	0.53720	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.92170	0.5743	9	.	.	.	.	15.0822	0.72122	0.0:1.0:0.0:0.0	.	166;166;166	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	R	166	ENSP00000380517:G166R;ENSP00000434821:G166R;ENSP00000452493:G166R;ENSP00000267383:G166R	.	G	-	1	0	CDH24	22594108	1.000000	0.71417	0.925000	0.36789	0.364000	0.29643	5.873000	0.69644	2.168000	0.68352	0.561000	0.74099	GGG		0.552	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	Missense_Mutation	22	107	0	0	0	0	22	107				
YLPM1	56252	broad.mit.edu	37	14	75277087	75277087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:75277087A>G	ENST00000552421.1	+	8	3198	c.3074A>G	c.(3073-3075)gAt>gGt	p.D1025G	YLPM1_ENST00000325680.7_Missense_Mutation_p.D1731G|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1536G			P49750	YLPM1_HUMAN	YLP motif containing 1	1536	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGACCGGGATCGATTTGAC	0.403																																						uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(5191-5193)GAT>GGT		YLP motif containing 1							143.0	132.0	136.0					14																	75277087		1877	4105	5982	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75277087A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3074A>G	14.37:g.75277087A>G	ENSP00000447921:p.Asp1025Gly					YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.D214G	p.D1731G	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	9	5316	+			1536			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5192A>G		.	.	.	.	.	.	.	.	.	.	A	24.9	4.577502	0.86645	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.09723	2.95;2.95;2.95	5.83	5.83	0.93111	.	0.107611	0.44483	D	0.000454	T	0.16685	0.0401	N	0.19112	0.55	0.49915	D	0.99983	D;P	0.57257	0.979;0.787	P;P	0.56563	0.801;0.521	T	0.01899	-1.1251	10	0.72032	D	0.01	-6.8113	16.1926	0.82004	1.0:0.0:0.0:0.0	.	1536;1731	P49750-3;P49750-4	.;.	G	1025;1731;1536;1444;140	ENSP00000447921:D1025G;ENSP00000324463:D1731G;ENSP00000238571:D1536G	ENSP00000238571:D1536G	D	+	2	0	YLPM1	74346840	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.672000	0.68102	2.219000	0.72066	0.533000	0.62120	GAT		0.403	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	115	0	0	0	0	3	115				
IFT43	112752	broad.mit.edu	37	14	76452140	76452140	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:76452140T>A	ENST00000314067.6	+	1	45	c.11T>A	c.(10-12)tTg>tAg	p.L4*	IFT43_ENST00000238628.6_Nonsense_Mutation_p.L4*|TGFB3_ENST00000556674.1_5'Flank|IFT43_ENST00000556742.1_Nonsense_Mutation_p.L4*|IFT43_ENST00000553338.1_3'UTR	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	4					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						ATGGAGGATTTGCTCGACTTG	0.627																																						uc010asm.1		NA																	0					0						c.(10-12)TTG>TAG		hypothetical protein LOC112752 isoform 2							62.0	52.0	56.0					14																	76452140		2203	4300	6503	SO:0001587	stop_gained	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76452140T>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.11T>A	14.37:g.76452140T>A	ENSP00000324177:p.Leu4*					C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Nonsense_Mutation_p.L4*|C14orf179_uc001xsg.2_Nonsense_Mutation_p.L4*|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Nonsense_Mutation_p.L4*	p.L4*	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	1	45	+			4					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Nonsense_Mutation	SNP	ENST00000314067.6	37	c.11T>A	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.722897	0.68959	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	.	.	.	4.18	1.75	0.24633	.	1.630060	0.03579	N	0.229839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-6.4584	3.3635	0.07196	0.357:0.0999:0.0:0.5431	.	.	.	.	X	4	.	ENSP00000238628:L4X	L	+	2	0	IFT43	75521893	0.776000	0.28616	0.306000	0.25113	0.014000	0.08584	0.857000	0.27831	0.254000	0.21573	-0.353000	0.07706	TTG		0.627	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		5	44	0	0	0	0	5	44				
MAPKBP1	23005	broad.mit.edu	37	15	42115756	42115756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:42115756G>A	ENST00000456763.2	+	30	3924	c.3728G>A	c.(3727-3729)cGg>cAg	p.R1243Q	MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R1237Q|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1120Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1076Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1243										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGTCCGTCTCGGCCTCACTCC	0.622																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(3727-3729)CGG>CAG		mitogen-activated protein kinase binding protein							69.0	63.0	65.0					15																	42115756		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42115756G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3728G>A	15.37:g.42115756G>A	ENSP00000393099:p.Arg1243Gln					MAPKBP1_uc001zoj.3_Missense_Mutation_p.R1237Q|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R744Q|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Missense_Mutation_p.R1076Q|MAPKBP1_uc010bck.2_Missense_Mutation_p.R454Q|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R744Q	p.R1243Q	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	30	4014	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1243					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.3728G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.467971	0.26335	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.44881	1.12;1.25;0.91;1.17	5.82	-4.51	0.03483	.	1.062400	0.07258	N	0.866951	T	0.22589	0.0545	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.24576	0.005;0.005;0.016;0.106;0.086	B;B;B;B;B	0.14578	0.003;0.005;0.002;0.007;0.011	T	0.17167	-1.0378	10	0.37606	T	0.19	-0.0719	9.2683	0.37654	0.6205:0.1115:0.2681:0.0	.	1076;1120;1076;1243;1237	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	Q	1237;1120;1076;1243	ENSP00000397570:R1237Q;ENSP00000221214:R1120Q;ENSP00000260357:R1076Q;ENSP00000393099:R1243Q	ENSP00000221214:R1120Q	R	+	2	0	MAPKBP1	39903048	0.002000	0.14202	0.172000	0.22920	0.313000	0.28021	-0.386000	0.07370	-1.329000	0.02258	-0.469000	0.05056	CGG		0.622	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		8	56	0	0	0	0	8	56				
TCF12	6938	broad.mit.edu	37	15	57565366	57565366	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:57565366T>A	ENST00000267811.5	+	18	2116	c.1812T>A	c.(1810-1812)tgT>tgA	p.C604*	TCF12_ENST00000343827.3_Nonsense_Mutation_p.C434*|TCF12_ENST00000438423.2_Nonsense_Mutation_p.C628*|TCF12_ENST00000543579.1_Nonsense_Mutation_p.C458*|TCF12_ENST00000559703.1_Nonsense_Mutation_p.C261*|TCF12_ENST00000559710.1_Nonsense_Mutation_p.C238*|TCF12_ENST00000452095.2_Nonsense_Mutation_p.C624*|TCF12_ENST00000557843.1_Nonsense_Mutation_p.C604*|TCF12_ENST00000333725.5_Nonsense_Mutation_p.C628*|TCF12_ENST00000537840.1_Nonsense_Mutation_p.C368*	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	604	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCCGAATGTGTCAGCTTCACT	0.458			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2		NA		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		0				central_nervous_system(5)|ovary(2)|lung(1)	8						c.(1810-1812)TGT>TGA		transcription factor 12 isoform b							103.0	106.0	105.0					15																	57565366		2192	4292	6484	SO:0001587	stop_gained	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565366T>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1812T>A	15.37:g.57565366T>A	ENSP00000267811:p.Cys604*					TCF12_uc010ugm.1_Nonsense_Mutation_p.C656*|TCF12_uc010ugn.1_Nonsense_Mutation_p.C624*|TCF12_uc002aea.2_Nonsense_Mutation_p.C628*|TCF12_uc010bfs.2_Nonsense_Mutation_p.C25*|TCF12_uc002aeb.2_Nonsense_Mutation_p.C628*|TCF12_uc002aed.2_Nonsense_Mutation_p.C604*|TCF12_uc002aee.2_Nonsense_Mutation_p.C434*|TCF12_uc010bft.2_Nonsense_Mutation_p.C458*|TCF12_uc010ugo.1_Nonsense_Mutation_p.C368*|TCF12_uc010ugp.1_Nonsense_Mutation_p.C261*|TCF12_uc010ugq.1_Nonsense_Mutation_p.C238*|TCF12_uc010ugr.1_Nonsense_Mutation_p.C217*	p.C604*	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2096	+		Colorectal(260;0.0907)	604			Helix-loop-helix motif.		Q7Z3D9|Q86TC1|Q86VM2	Nonsense_Mutation	SNP	ENST00000267811.5	37	c.1812T>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213205	0.58452	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	.	.	.	4.82	3.69	0.42338	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8954	8.5704	0.33565	0.0:0.2195:0.0:0.7805	.	.	.	.	X	656;604;628;624;628;458;368;434;216	.	ENSP00000267811:C604X	C	+	3	2	TCF12	55352658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.054000	0.41335	0.803000	0.34113	0.533000	0.62120	TGT		0.458	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		17	85	0	0	0	0	17	85				
ALDH1A2	8854	broad.mit.edu	37	15	58357758	58357758	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:58357758G>C	ENST00000249750.4	-	1	858	c.91C>G	c.(91-93)Ccc>Gcc	p.P31A	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P31A|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	31					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCGAGATTGGGCGTGGGCGAC	0.627																																						uc002aex.2		NA																	0				central_nervous_system(1)	1						c.(91-93)CCC>GCC		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						37.0	40.0	39.0					15																	58357758		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58357758G>C	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.91C>G	15.37:g.58357758G>C	ENSP00000249750:p.Pro31Ala					ALDH1A2_uc002aey.2_Missense_Mutation_p.P31A|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	p.P31A	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	1	149	-			31					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.91C>G	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285594	0.59867	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.15017	2.46;2.46	3.71	3.71	0.42584	Aldehyde/histidinol dehydrogenase (1);	0.288040	0.34178	N	0.004184	T	0.07188	0.0182	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15378	-1.0439	10	0.06236	T	0.91	.	10.8749	0.46904	0.0:0.1914:0.8086:0.0	.	31;31	O94788-2;O94788	.;AL1A2_HUMAN	A	31	ENSP00000249750:P31A;ENSP00000309623:P31A	ENSP00000249750:P31A	P	-	1	0	ALDH1A2	56145050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.649000	0.74364	1.942000	0.56320	0.558000	0.71614	CCC		0.627	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			4	53	0	0	0	0	4	53				
CHSY1	22856	broad.mit.edu	37	15	101719015	101719015	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:101719015A>G	ENST00000254190.3	-	3	1462	c.987T>C	c.(985-987)caT>caC	p.H329H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	329					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATTGTGCGATGGCGGAGCT	0.498																																						uc002bwt.1		NA																	0					0						c.(985-987)CAT>CAC		chondroitin sulfate synthase 1							124.0	124.0	124.0					15																	101719015		2203	4300	6503	SO:0001819	synonymous_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101719015A>G	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.987T>C	15.37:g.101719015A>G						CHSY1_uc010usd.1_Silent_p.H57H	p.H329H	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1470	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		329			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	c.987T>C	CCDS10390.1																																																																																				0.498	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		9	79	0	0	0	0	9	79				
PTX4	390667	broad.mit.edu	37	16	1537772	1537772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:1537772C>T	ENST00000447419.2	-	2	366	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PTX4_ENST00000440447.2_Missense_Mutation_p.R114Q|PTX4_ENST00000293922.1_Missense_Mutation_p.R109Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	114						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTCCGGCCTCGGCGCTGCAG	0.687																																						uc010uvf.1		NA																	0					0						c.(325-327)CGA>CAA		neuronal pentraxin II-like							37.0	42.0	40.0					16																	1537772		2199	4297	6496	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537772C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.341G>A	16.37:g.1537772C>T	ENSP00000445277:p.Arg114Gln						p.R109Q	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			2	326	-			114						Missense_Mutation	SNP	ENST00000447419.2	37	c.326G>A		.	.	.	.	.	.	.	.	.	.	C	9.966	1.224221	0.22457	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.08546	3.26;3.08	5.55	4.6	0.57074	.	0.309061	0.29273	N	0.012621	T	0.09202	0.0227	L	0.54323	1.7	0.09310	N	1	P	0.50272	0.933	B	0.42087	0.375	T	0.24119	-1.0169	10	0.25106	T	0.35	.	8.7002	0.34320	0.0:0.8279:0.0:0.1721	.	109	Q96A99-2	.	Q	114;109	ENSP00000445277:R114Q;ENSP00000293922:R109Q	ENSP00000293922:R109Q	R	-	2	0	PTX4	1477773	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.506000	0.22658	1.359000	0.45940	-0.291000	0.09656	CGA		0.687	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		13	77	0	0	0	0	13	77				
MEFV	4210	broad.mit.edu	37	16	3296524	3296524	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:3296524C>T	ENST00000219596.1	-	6	1650		c.e6+1		MEFV_ENST00000339854.4_Splice_Site|MEFV_ENST00000541159.1_Splice_Site|MEFV_ENST00000536379.1_Splice_Site	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCTCGCTGTACCTGTGCAAGA	0.567																																						uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.e6+1		Mediterranean fever protein	Colchicine(DB01394)						86.0	81.0	82.0					16																	3296524		2197	4300	6497	SO:0001630	splice_region_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3296524C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1610+1G>A	16.37:g.3296524C>T							p.R537_splice	NM_000243	NP_000234	O15553	MEFV_HUMAN			6	1650	-								D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Splice_Site	SNP	ENST00000219596.1	37	c.1610_splice	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135333	0.37728	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0523	0.86523	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEFV	3236525	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	4.696000	0.61774	2.710000	0.92621	0.655000	0.94253	.		0.567	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	Intron	4	40	0	0	0	0	4	40				
ATF7IP2	80063	broad.mit.edu	37	16	10524589	10524589	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:10524589C>T	ENST00000396560.2	+	3	339	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.L38L|ATF7IP2_ENST00000324570.5_Silent_p.L38L|ATF7IP2_ENST00000356427.2_Silent_p.L38L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TGTTGAAGCGCTGAAAACAGC	0.408																																						uc002czu.2		NA																	0					0						c.(112-114)CTG>TTG		activating transcription factor 7 interacting							80.0	75.0	76.0					16																	10524589		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524589C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.112C>T	16.37:g.10524589C>T						ATF7IP2_uc002czv.2_Silent_p.L38L|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Silent_p.L38L|ATF7IP2_uc010uyq.1_RNA	p.L38L	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			3	339	+			38					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.112C>T	CCDS10540.1																																																																																				0.408	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		5	35	0	0	0	0	5	35				
DNAH3	55567	broad.mit.edu	37	16	20990733	20990733	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:20990733C>G	ENST00000261383.3	-	50	7994	c.7995G>C	c.(7993-7995)ctG>ctC	p.L2665L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2665	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGCTATTCAGGAGCGTCT	0.468																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7993-7995)CTG>CTC		dynein, axonemal, heavy chain 3							145.0	133.0	137.0					16																	20990733		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990733C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7995G>C	16.37:g.20990733C>G						DNAH3_uc010vbd.1_Silent_p.L100L	p.L2665L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	7995	-			2665			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7995G>C	CCDS10594.1																																																																																				0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	91	0	0	0	0	8	91				
ARMC5	79798	broad.mit.edu	37	16	31477646	31477646	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:31477646C>T	ENST00000563544.1	+	7	2790	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P	ARMC5_ENST00000538189.1_Silent_p.P780P|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Silent_p.P392P|ARMC5_ENST00000268314.4_Silent_p.P748P|ARMC5_ENST00000408912.3_Silent_p.P843P			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	748	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCAGCTCCCGACCTGCACT	0.667																																						uc002ecc.2		NA																	0				pancreas(1)	1						c.(2242-2244)CCC>CCT		armadillo repeat containing 5 isoform a							30.0	34.0	33.0					16																	31477646		2045	4185	6230	SO:0001819	synonymous_variant	79798						binding	g.chr16:31477646C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2244C>T	16.37:g.31477646C>T						ARMC5_uc010vfn.1_Silent_p.P843P|ARMC5_uc010vfo.1_Silent_p.P780P|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Silent_p.P556P|ARMC5_uc002ecb.2_3'UTR	p.P748P	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			6	2773	+			748			BTB.		Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.2244C>T	CCDS45472.1																																																																																				0.667	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	32	0	0	0	0	3	32				
ADCY7	113	broad.mit.edu	37	16	50347892	50347892	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:50347892C>T	ENST00000394697.2	+	23	3115	c.2775C>T	c.(2773-2775)agC>agT	p.S925S	ADCY7_ENST00000254235.3_Silent_p.S925S			P51828	ADCY7_HUMAN	adenylate cyclase 7	925	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCAAGTTCAGCGGCGTGGAGA	0.617																																						uc002egd.1		NA																	0				skin(1)	1						c.(2773-2775)AGC>AGT		adenylate cyclase 7	Bromocriptine(DB01200)						85.0	79.0	81.0					16																	50347892		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50347892C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2775C>T	16.37:g.50347892C>T							p.S925S	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	22	3043	+		all_cancers(37;0.0127)	925			Cytoplasmic (Potential).|Guanylate cyclase 2.		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.2775C>T	CCDS10741.1																																																																																				0.617	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			6	57	0	0	0	0	6	57				
CTCF	10664	broad.mit.edu	37	16	67670670	67670670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:67670670C>T	ENST00000264010.4	+	11	2359	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.Q311*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	639					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCAGAGCCTCAGCCTGTGAC	0.547																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1915-1917)CAG>TAG		CCCTC-binding factor							104.0	110.0	108.0					16																	67670670		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67670670C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1915C>T	16.37:g.67670670C>T	ENSP00000264010:p.Gln639*					CTCF_uc010cek.2_Nonsense_Mutation_p.Q311*|CTCF_uc002etm.1_Nonsense_Mutation_p.Q128*	p.Q639*	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	11	2205	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	639					B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.1915C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	38	7.282923	0.98186	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	6.03	2.79	0.32731	.	0.188361	0.36034	N	0.002838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.3505	17.06	0.86544	0.0:0.3842:0.6158:0.0	.	.	.	.	X	639;311	.	ENSP00000264010:Q639X	Q	+	1	0	CTCF	66228171	0.992000	0.36948	0.959000	0.39883	0.938000	0.57974	2.610000	0.46325	0.843000	0.35070	0.655000	0.94253	CAG		0.547	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		24	182	0	0	0	0	24	182				
PHLPP2	23035	broad.mit.edu	37	16	71718486	71718486	+	Missense_Mutation	SNP	G	G	A	rs570581294	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:71718486G>A	ENST00000568954.1	-	5	1006	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R210W|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGTATTGCCGTCGCTTCACT	0.478													G|||	4	0.000798722	0.0	0.0	5008	,	,		15863	0.0		0.0	False		,,,				2504	0.0041					uc002fax.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(628-630)CGG>TGG		PH domain and leucine rich repeat protein							54.0	52.0	53.0					16																	71718486		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718486G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.628C>T	16.37:g.71718486G>A	ENSP00000457991:p.Arg210Trp					PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Missense_Mutation_p.R210W|PHLPP2_uc002fay.1_Missense_Mutation_p.R210W	p.R210W	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			4	634	-			210			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.628C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664548	0.67700	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.36699	1.24;1.24;1.24	4.82	1.37	0.22104	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	L	0.54323	1.7	0.50171	D	0.999855	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53899	-0.8373	10	0.72032	D	0.01	-13.4761	12.5431	0.56184	0.0:0.0:0.4322:0.5678	.	210;210	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	W	17;210;210;210;210	ENSP00000353610:R210W;ENSP00000348611:R210W;ENSP00000377159:R210W	ENSP00000299971:R17W	R	-	1	2	PHLPP2	70275987	0.404000	0.25328	0.987000	0.45799	0.996000	0.88848	1.727000	0.38095	0.490000	0.27771	0.561000	0.74099	CGG		0.478	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		8	37	0	0	0	0	8	37				
CNTNAP4	85445	broad.mit.edu	37	16	76482788	76482788	+	Silent	SNP	C	C	T	rs528700108		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:76482788C>T	ENST00000476707.1	+	5	1015	c.876C>T	c.(874-876)gaC>gaT	p.D292D	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.D264D|CNTNAP4_ENST00000307431.8_Silent_p.D288D|CNTNAP4_ENST00000377504.4_Silent_p.D288D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	289	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACAGTGGACGAACACAGGC	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18815	0.0		0.0	False		,,,				2504	0.0					uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(865-867)GAC>GAT		cell recognition protein CASPR4 isoform 1							140.0	106.0	117.0					16																	76482788		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76482788C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.876C>T	16.37:g.76482788C>T						CNTNAP4_uc002fev.1_Silent_p.D201D|CNTNAP4_uc010chb.1_Silent_p.D264D|CNTNAP4_uc002fex.1_Silent_p.D292D|CNTNAP4_uc002few.2_Silent_p.D264D	p.D289D	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			8	1252	+			289			Extracellular (Potential).|Laminin G-like 1.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.867C>T																																																																																					0.448	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		4	26	0	0	0	0	4	26				
TM4SF5	9032	broad.mit.edu	37	17	4684093	4684093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4684093C>G	ENST00000270560.3	+	2	218	c.187C>G	c.(187-189)Ccg>Gcg	p.P63A		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	63						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						GGTACTGTGTCCGGGGATTGC	0.577																																						uc002fyw.1		NA																	0				ovary(1)	1						c.(187-189)CCG>GCG		transmembrane 4 superfamily member 5							67.0	61.0	63.0					17																	4684093		2203	4300	6503	SO:0001583	missense	9032					integral to plasma membrane		g.chr17:4684093C>G	AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"""transmembrane 4 superfamily member 5"""			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.187C>G	17.37:g.4684093C>G	ENSP00000270560:p.Pro63Ala						p.P63A	NM_003963	NP_003954	O14894	T4S5_HUMAN			2	218	+			63			Helical; (Potential).		Q17RW9|Q6IB79	Missense_Mutation	SNP	ENST00000270560.3	37	c.187C>G	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378387	0.42207	.	.	ENSG00000142484	ENST00000270560	T	0.27104	1.69	4.78	3.79	0.43588	.	0.052574	0.85682	D	0.000000	T	0.31949	0.0813	M	0.71581	2.175	0.48762	D	0.999705	P	0.47253	0.892	P	0.46362	0.514	T	0.09796	-1.0658	10	0.20519	T	0.43	-0.4603	12.009	0.53276	0.1742:0.8258:0.0:0.0	.	63	O14894	T4S5_HUMAN	A	63	ENSP00000270560:P63A	ENSP00000270560:P63A	P	+	1	0	TM4SF5	4630842	1.000000	0.71417	0.611000	0.29010	0.045000	0.14185	3.376000	0.52417	1.201000	0.43203	0.655000	0.94253	CCG		0.577	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			7	22	0	0	0	0	7	22				
PSMB6	5694	broad.mit.edu	37	17	4700737	4700737	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4700737T>C	ENST00000270586.3	+	3	226	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTGCAGGTCCTACATCGCCAA	0.547																																						uc002fzb.2		NA																	0				ovary(2)	2						c.(175-177)TAC>CAC		proteasome beta 6 subunit precursor							163.0	141.0	148.0					17																	4700737		2203	4300	6503	SO:0001583	missense	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4700737T>C	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.175T>C	17.37:g.4700737T>C	ENSP00000270586:p.Tyr59His						p.Y59H	NM_002798	NP_002789	P28072	PSB6_HUMAN			3	208	+			59					Q96J55	Missense_Mutation	SNP	ENST00000270586.3	37	c.175T>C	CCDS11056.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599616	0.66332	.	.	ENSG00000142507	ENST00000270586	T	0.35421	1.31	5.52	5.52	0.82312	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	H	0.96518	3.835	0.52099	D	0.99994	D	0.89917	1.0	D	0.97110	1.0	T	0.80841	-0.1202	10	0.87932	D	0	-8.6273	13.6508	0.62310	0.0:0.0:0.0:1.0	.	59	P28072	PSB6_HUMAN	H	59	ENSP00000270586:Y59H	ENSP00000270586:Y59H	Y	+	1	0	PSMB6	4647695	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	6.179000	0.71974	2.311000	0.77944	0.528000	0.53228	TAC		0.547	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		3	192	0	0	0	0	3	192				
TOM1L2	146691	broad.mit.edu	37	17	17751077	17751077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:17751077C>T	ENST00000379504.3	-	15	1479	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	TOM1L2_ENST00000535933.1_Missense_Mutation_p.E442K|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E416K|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E199K|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E348K|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E347K|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E421K|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E421K	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	466				E -> V (in Ref. 1; AAL78338). {ECO:0000305}.	intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTGGCTCTTTCTTCAAGGAAT	0.592																																					Melanoma(192;2505 2909 14455 25269)	uc002grz.3		NA																	0					0						c.(1396-1398)GAA>AAA		target of myb1-like 2 isoform 3							97.0	104.0	102.0					17																	17751077		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17751077C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1396G>A	17.37:g.17751077C>T	ENSP00000368818:p.Glu466Lys					TOM1L2_uc002gry.3_Missense_Mutation_p.E416K|TOM1L2_uc010vwy.1_Missense_Mutation_p.E442K|TOM1L2_uc010cpr.2_Missense_Mutation_p.E421K|TOM1L2_uc010vwz.1_Missense_Mutation_p.E347K|TOM1L2_uc010vxa.1_Missense_Mutation_p.E348K|TOM1L2_uc002grv.3_Missense_Mutation_p.E199K	p.E466K	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN			15	1553	-	all_neural(463;0.228)		466	E -> V (in Ref. 1; AAL78338).				B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1396G>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527438	0.64860	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.61859	1.12;1.11;1.08;1.2;0.07	5.29	4.32	0.51571	.	0.217944	0.47093	D	0.000255	T	0.76364	0.3977	M	0.83118	2.625	0.80722	D	1	B;D;P;D;D;D	0.89917	0.088;1.0;0.773;0.977;0.968;0.981	B;D;B;P;P;P	0.74023	0.02;0.982;0.37;0.725;0.773;0.886	T	0.80241	-0.1464	10	0.72032	D	0.01	-9.2569	13.5793	0.61893	0.0:0.9237:0.0:0.0763	.	348;347;442;421;466;416	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	K	466;416;421;442;348;347	ENSP00000368818:E466K;ENSP00000379088:E421K;ENSP00000438621:E442K;ENSP00000437655:E348K;ENSP00000445188:E347K	ENSP00000312860:E416K	E	-	1	0	TOM1L2	17691802	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	7.217000	0.77982	1.239000	0.43787	-0.266000	0.10368	GAA		0.592	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			5	74	0	0	0	0	5	74				
ALDOC	230	broad.mit.edu	37	17	26901251	26901251	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:26901251A>G	ENST00000226253.4	-	7	1108	c.633T>C	c.(631-633)gcT>gcC	p.A211A	PIGS_ENST00000543734.1_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Silent_p.A183A|PIGS_ENST00000395346.2_5'Flank|ALDOC_ENST00000395321.2_Silent_p.A211A|PIGS_ENST00000308360.7_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	211					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGTACACAGCAGCCAAGACCT	0.567																																						uc002hbp.2		NA																	0				ovary(1)	1						c.(631-633)GCT>GCC		fructose-bisphosphate aldolase C							107.0	116.0	113.0					17																	26901251		2203	4300	6503	SO:0001819	synonymous_variant	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26901251A>G	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.633T>C	17.37:g.26901251A>G						PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Silent_p.A183A	p.A211A	NM_005165	NP_005156	P09972	ALDOC_HUMAN			7	778	-	Lung NSC(42;0.00431)		211					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	ENST00000226253.4	37	c.633T>C	CCDS11236.1																																																																																				0.567	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			18	186	0	0	0	0	18	186				
GRB7	2886	broad.mit.edu	37	17	37901747	37901747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:37901747C>T	ENST00000309156.4	+	11	1422	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	GRB7_ENST00000394211.3_Missense_Mutation_p.R389W|GRB7_ENST00000394209.2_Missense_Mutation_p.R389W|GRB7_ENST00000445327.2_Missense_Mutation_p.R412W|GRB7_ENST00000394204.1_Missense_Mutation_p.R389W|GRB7_ENST00000309185.3_Missense_Mutation_p.R389W	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	389					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAGAACCCCCGGGAGGCTCT	0.612																																						uc002hsr.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1165-1167)CGG>TGG		growth factor receptor-bound protein 7							60.0	65.0	63.0					17																	37901747		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901747C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1165C>T	17.37:g.37901747C>T	ENSP00000310771:p.Arg389Trp					GRB7_uc002hss.2_Missense_Mutation_p.R389W|GRB7_uc010cwc.2_Missense_Mutation_p.R389W|GRB7_uc002hst.2_Missense_Mutation_p.R389W	p.R389W	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		11	1415	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		389					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1165C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	7.362	0.625018	0.14257	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.56444	0.46;1.6;1.6;1.6;1.59;0.46	5.97	1.11	0.20524	BPS (Between PH and SH2) domain (1);	0.533820	0.20763	N	0.086125	T	0.33089	0.0851	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.10450	0.002;0.005	T	0.30238	-0.9985	10	0.54805	T	0.06	-21.4291	10.7479	0.46191	0.2762:0.5301:0.1937:0.0	.	389;389	Q14451-2;Q14451	.;GRB7_HUMAN	W	389;389;389;389;412;389	ENSP00000311752:R389W;ENSP00000310771:R389W;ENSP00000377761:R389W;ENSP00000377759:R389W;ENSP00000403459:R412W;ENSP00000377754:R389W	ENSP00000310771:R389W	R	+	1	2	GRB7	35155273	0.000000	0.05858	0.952000	0.39060	0.004000	0.04260	0.045000	0.14013	0.389000	0.25086	-0.818000	0.03119	CGG		0.612	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		10	70	0	0	0	0	10	70				
ZPBP2	124626	broad.mit.edu	37	17	38027749	38027749	+	Missense_Mutation	SNP	C	C	A	rs377545293		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:38027749C>A	ENST00000348931.4	+	4	468	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	ZPBP2_ENST00000377940.3_Missense_Mutation_p.Q71K|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Q93K	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	93					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAACTGGACAGCTGATGGT	0.294																																						uc002hte.2		NA																	0				ovary(1)	1						c.(277-279)CAG>AAG		zona pellucida binding protein 2 isoform 2							89.0	95.0	93.0					17																	38027749		2203	4297	6500	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38027749C>A	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.277C>A	17.37:g.38027749C>A	ENSP00000335384:p.Gln93Lys					ZPBP2_uc002htf.2_Missense_Mutation_p.Q71K	p.Q93K	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	430	+	Colorectal(19;0.000442)		93					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.277C>A	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	1.928	-0.446580	0.04572	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.50548	0.74;0.74	5.46	1.95	0.26073	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.502208	0.19885	N	0.103867	T	0.14013	0.0339	N	0.01297	-0.9	0.22266	N	0.99925	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33904	-0.9850	10	0.02654	T	1	-0.4191	6.4686	0.21995	0.601:0.3174:0.0815:0.0	.	71;93	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	K	93;71	ENSP00000335384:Q93K;ENSP00000367174:Q71K	ENSP00000335384:Q93K	Q	+	1	0	ZPBP2	35281275	0.997000	0.39634	0.989000	0.46669	0.955000	0.61496	1.557000	0.36299	0.055000	0.16094	-0.535000	0.04281	CAG		0.294	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		6	60	1	0	0.00198382	0.00241863	6	60				
KRTAP4-8	728224	broad.mit.edu	37	17	39254188	39254188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:39254188C>A	ENST00000333822.4	-	1	205	c.149G>T	c.(148-150)tGc>tTc	p.C50F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	50	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CTGGGGTCTGCAGCAGCAGGA	0.652																																						uc010wfo.1		NA																	0					0						c.(148-150)TGC>TTC		keratin associated protein 4.8							14.0	18.0	17.0					17																	39254188		692	1589	2281	SO:0001583	missense	728224					keratin filament		g.chr17:39254188C>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.149G>T	17.37:g.39254188C>A	ENSP00000328444:p.Cys50Phe						p.C50F	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	188	-			50			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|6.		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.149G>T	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197211	0.38806	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02498	4.27	3.4	3.4	0.38934	.	0.603408	0.12340	U	0.477557	T	0.19525	0.0469	H	0.96015	3.755	0.36762	D	0.883335	D	0.59357	0.985	D	0.63793	0.918	T	0.05566	-1.0877	10	0.87932	D	0	.	6.9927	0.24763	0.0:0.867:0.0:0.133	.	50	Q9BYQ9	KRA48_HUMAN	F	50	ENSP00000328444:C50F	ENSP00000414561:C50F	C	-	2	0	KRTAP4-8	36507714	1.000000	0.71417	0.823000	0.32752	0.033000	0.12548	2.720000	0.47252	1.614000	0.50241	0.449000	0.29647	TGC		0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		14	61	1	0	6.72e-11	8.93e-11	14	61				
TUBG2	27175	broad.mit.edu	37	17	40818790	40818790	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:40818790A>T	ENST00000251412.7	+	11	1527	c.1328A>T	c.(1327-1329)tAc>tTc	p.Y443F	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	443					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CAGCCAGACTACATTTCCTGG	0.542																																						uc010wgr.1		NA																	0				ovary(1)	1						c.(1327-1329)TAC>TTC		tubulin, gamma 2							101.0	81.0	88.0					17																	40818790		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818790A>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1328A>T	17.37:g.40818790A>T	ENSP00000251412:p.Tyr443Phe					TUBG2_uc002iaq.2_3'UTR|TUBG2_uc002iar.2_Missense_Mutation_p.Y290F|TUBG2_uc002ias.2_Missense_Mutation_p.Y285F|TUBG2_uc002iap.2_Missense_Mutation_p.Y290F	p.Y443F	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	11	1584	+		Breast(137;0.00116)	443					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1328A>T	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.267110	0.80469	.	.	ENSG00000037042	ENST00000251412	D	0.85339	-1.97	5.07	5.07	0.68467	Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92763	0.7699	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93933	0.7216	10	0.87932	D	0	-29.7453	14.9891	0.71371	1.0:0.0:0.0:0.0	.	443	Q9NRH3	TBG2_HUMAN	F	443	ENSP00000251412:Y443F	ENSP00000251412:Y443F	Y	+	2	0	TUBG2	38072316	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.976000	0.93442	2.132000	0.65825	0.459000	0.35465	TAC		0.542	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		5	62	0	0	0	0	5	62				
RPRD1A	55197	broad.mit.edu	37	18	33607246	33607246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr18:33607246C>T	ENST00000399022.4	-	5	685	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RPRD1A_ENST00000337059.5_Missense_Mutation_p.D136N|RPRD1A_ENST00000588737.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000357384.4_Missense_Mutation_p.D172N|RPRD1A_ENST00000590898.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000319040.6_Missense_Mutation_p.D172N	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	172					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTTTCCAGATCTTGTAATGCT	0.353																																						uc002kzf.1		NA																	0				ovary(1)|breast(1)	2						c.(514-516)GAT>AAT		regulation of nuclear pre-mRNA domain containing							113.0	115.0	115.0					18																	33607246		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33607246C>T	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.514G>A	18.37:g.33607246C>T	ENSP00000381984:p.Asp172Asn					RPRD1A_uc002kze.1_Missense_Mutation_p.D136N|RPRD1A_uc002kzg.2_Missense_Mutation_p.D172N|RPRD1A_uc010dmw.2_Missense_Mutation_p.D136N|RPRD1A_uc010dmx.2_Missense_Mutation_p.D172N	p.D172N	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN			5	520	-			172					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.514G>A	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852782	0.71719	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	4.98	4.98	0.66077	.	0.044035	0.85682	D	0.000000	T	0.42359	0.1199	N	0.24115	0.695	0.40369	D	0.979329	P;B;B	0.43857	0.819;0.014;0.212	B;B;B	0.41466	0.358;0.017;0.253	T	0.43114	-0.9411	9	0.41790	T	0.15	-16.8465	16.1081	0.81237	0.0:1.0:0.0:0.0	.	172;172;136	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	N	172;172;136;172	.	ENSP00000314602:D172N	D	-	1	0	RPRD1A	31861244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.726000	0.68515	2.467000	0.83353	0.650000	0.86243	GAT		0.353	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		10	121	0	0	0	0	10	121				
MUC16	94025	broad.mit.edu	37	19	9066795	9066795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9066795G>A	ENST00000397910.4	-	3	20854	c.20651C>T	c.(20650-20652)aCa>aTa	p.T6884I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6886	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGTGCTTGTGGAAGGATG	0.478																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20650-20652)ACA>ATA		mucin 16							223.0	212.0	216.0					19																	9066795		2123	4251	6374	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066795G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20651C>T	19.37:g.9066795G>A	ENSP00000381008:p.Thr6884Ile						p.T6884I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20855	-			6886			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20651C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.967	-0.009104	0.07727	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	2.33	1.25	0.21368	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	.	.	.	P	0.46020	0.871	P	0.46850	0.529	T	0.15407	-1.0438	8	0.87932	D	0	.	5.7194	0.17978	0.0:0.0:0.561:0.439	.	6884	B5ME49	.	I	6884	ENSP00000381008:T6884I	ENSP00000381008:T6884I	T	-	2	0	MUC16	8927795	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.642000	0.02006	0.425000	0.26087	0.407000	0.27541	ACA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	217	0	0	0	0	28	217				
MED26	9441	broad.mit.edu	37	19	16688252	16688252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:16688252C>T	ENST00000263390.3	-	3	651	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R138H	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	130					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGGTCATTGCGGCTCTTCAG	0.746																																						uc002nen.1		NA																	0				ovary(2)	2						c.(388-390)CGC>CAC		mediator complex subunit 26							7.0	9.0	8.0					19																	16688252		2117	4140	6257	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688252C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.389G>A	19.37:g.16688252C>T	ENSP00000263390:p.Arg130His					MED26_uc002nee.2_RNA	p.R130H	NM_004831	NP_004822	O95402	MED26_HUMAN			3	650	-			130					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.389G>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	c	14.76	2.632524	0.46944	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.83	2.67	0.31697	.	0.050929	0.64402	D	0.000001	T	0.62986	0.2473	L	0.34521	1.04	0.40127	D	0.976678	D	0.89917	1.0	D	0.63957	0.92	T	0.65533	-0.6145	9	0.59425	D	0.04	-17.3618	14.2676	0.66129	0.0:0.7157:0.2843:0.0	.	130	O95402	MED26_HUMAN	H	130	.	ENSP00000263390:R130H	R	-	2	0	MED26	16549252	1.000000	0.71417	0.613000	0.29037	0.000000	0.00434	5.525000	0.67110	0.467000	0.27218	-0.830000	0.03078	CGC		0.746	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		3	18	0	0	0	0	3	18				
ZNF607	84775	broad.mit.edu	37	19	38190161	38190161	+	Missense_Mutation	SNP	G	G	A	rs201628159	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:38190161G>A	ENST00000355202.4	-	5	1466	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	ZNF607_ENST00000395835.3_Missense_Mutation_p.R290C|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAAACTGACGAAAGGCCTTT	0.428													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22110	0.0		0.0	False		,,,				2504	0.0					uc002ohc.1		NA																	0					0						c.(871-873)CGT>TGT		zinc finger protein 607							66.0	66.0	66.0					19																	38190161		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190161G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.871C>T	19.37:g.38190161G>A	ENSP00000347338:p.Arg291Cys					ZNF607_uc002ohb.1_Missense_Mutation_p.R290C	p.R291C	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1467	-			291			C2H2-type 7.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.871C>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900011	0.52227	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.18502	2.21;2.21	2.27	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19886	0.0478	L	0.55017	1.72	0.20403	N	0.99991	D;P	0.63880	0.993;0.595	P;B	0.50082	0.63;0.168	T	0.12528	-1.0544	9	0.52906	T	0.07	.	3.4895	0.07632	0.1968:0.0:0.2758:0.5274	.	291;290	Q96SK3;F5H141	ZN607_HUMAN;.	C	291;290	ENSP00000347338:R291C;ENSP00000438015:R290C	ENSP00000347338:R291C	R	-	1	0	ZNF607	42882001	0.000000	0.05858	0.018000	0.16275	0.722000	0.41435	-1.717000	0.01876	0.165000	0.19558	0.561000	0.74099	CGT		0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		10	76	0	0	0	0	10	76				
CYP2B6	1555	broad.mit.edu	37	19	41509997	41509997	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:41509997T>C	ENST00000324071.4	+	2	270	c.263T>C	c.(262-264)cTt>cCt	p.L88P	CYP2B6_ENST00000593831.1_Missense_Mutation_p.L12P|CYP2B6_ENST00000330446.5_Missense_Mutation_p.L48P|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	88					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CGGGAGGCCCTTGTGGACAAG	0.602																																						uc002opr.1		NA																	0				ovary(1)|skin(1)	2						c.(262-264)CTT>CCT		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						89.0	89.0	89.0					19																	41509997		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509997T>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.263T>C	19.37:g.41509997T>C	ENSP00000324648:p.Leu88Pro					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.L48P	p.L88P	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	270	+			88					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.263T>C	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	18.30	3.593996	0.66219	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.76448	-1.02;-1.02	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000003	D	0.91663	0.7365	H	0.98133	4.155	0.49213	D	0.999764	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93504	0.6847	10	0.87932	D	0	.	11.304	0.49323	0.0:0.0:0.0:1.0	.	48;88	B4DWP3;P20813	.;CP2B6_HUMAN	P	88;48	ENSP00000324648:L88P;ENSP00000330650:L48P	ENSP00000324648:L88P	L	+	2	0	CYP2B6	46201837	1.000000	0.71417	0.994000	0.49952	0.664000	0.39144	5.300000	0.65721	1.772000	0.52199	0.386000	0.25728	CTT		0.602	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		3	118	0	0	0	0	3	118				
ZNF835	90485	broad.mit.edu	37	19	57175375	57175375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:57175375C>T	ENST00000537055.2	-	2	1423	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCTGAAGGCGGCCCCGCAT	0.657																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(1258-1260)GCC>ACC		zinc finger protein 835							32.0	35.0	34.0					19																	57175375		2173	4296	6469	SO:0001583	missense	90485							g.chr19:57175375C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1192G>A	19.37:g.57175375C>T	ENSP00000444747:p.Ala398Thr					ZNF835_uc010ygn.1_Missense_Mutation_p.A398T	p.A420T	NM_001005850	NP_001005850					2	1258	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1258G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	8.792	0.930722	0.18131	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.13778	2.56	1.93	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	L	0.43152	1.355	0.09310	N	1	B	0.32968	0.392	B	0.25987	0.065	T	0.25328	-1.0135	9	0.34782	T	0.22	.	2.6076	0.04882	0.2891:0.5431:0.0:0.1678	.	420	Q9Y2P0	ZN835_HUMAN	T	420;398	ENSP00000444747:A398T	ENSP00000341756:A420T	A	-	1	0	ZNF835	61867187	0.000000	0.05858	0.449000	0.26957	0.334000	0.28698	-1.599000	0.02085	1.391000	0.46566	0.561000	0.74099	GCC		0.657	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		9	63	0	0	0	0	9	63				
ERLEC1	27248	broad.mit.edu	37	2	54041718	54041718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:54041718A>T	ENST00000185150.4	+	12	1396	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	ERLEC1_ENST00000405123.3_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.D368V|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	422					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GATATTTGTGATATAACTGAC	0.318																																						uc002rxl.2		NA																	0				ovary(2)	2						c.(1264-1266)GAT>GTT		erlectin isoform 1							86.0	91.0	89.0					2																	54041718		2203	4297	6500	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54041718A>T	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1265A>T	2.37:g.54041718A>T	ENSP00000185150:p.Asp422Val					ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Missense_Mutation_p.D368V	p.D422V	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			12	1545	+			422					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.1265A>T	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039889	0.75732	.	.	ENSG00000068912	ENST00000185150;ENST00000378239	T	0.58506	0.33	4.95	4.95	0.65309	Mannose-6-phosphate receptor, binding (1);	0.045906	0.85682	D	0.000000	T	0.75057	0.3798	.	.	.	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.927	T	0.77963	-0.2390	9	0.56958	D	0.05	-21.0089	13.5063	0.61485	1.0:0.0:0.0:0.0	.	368;422	Q96DZ1-2;Q96DZ1	.;ERLEC_HUMAN	V	422;368	ENSP00000185150:D422V	ENSP00000185150:D422V	D	+	2	0	ERLEC1	53895222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.202000	0.89737	1.989000	0.58080	0.459000	0.35465	GAT		0.318	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		3	29	0	0	0	0	3	29				
ANTXR1	84168	broad.mit.edu	37	2	69472570	69472570	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:69472570A>G	ENST00000303714.4	+	18	1970	c.1648A>G	c.(1648-1650)Aac>Gac	p.N550D		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	550	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						tccacctcccaacagggcacc	0.662									Familial Infantile Hemangioma																													uc002sfg.2		NA																	0				ovary(2)|skin(2)	4						c.(1648-1650)AAC>GAC		anthrax toxin receptor 1 isoform 1 precursor							23.0	29.0	27.0					2																	69472570		2188	4283	6471	SO:0001583	missense	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69472570A>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1648A>G	2.37:g.69472570A>G	ENSP00000301945:p.Asn550Asp						p.N550D	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			18	2004	+			550			Cytoplasmic (Potential).|Pro-rich.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1648A>G	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767984	0.31320	.	.	ENSG00000169604	ENST00000303714	T	0.30182	1.54	4.4	4.4	0.53042	.	0.529346	0.20210	N	0.096936	T	0.22437	0.0541	L	0.36672	1.1	0.80722	D	1	B	0.18013	0.025	B	0.08055	0.003	T	0.04551	-1.0943	10	0.14252	T	0.57	-8.7238	11.8927	0.52638	1.0:0.0:0.0:0.0	.	550	Q9H6X2	ANTR1_HUMAN	D	550	ENSP00000301945:N550D	ENSP00000301945:N550D	N	+	1	0	ANTXR1	69326074	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.167000	0.58209	1.768000	0.52137	0.392000	0.25879	AAC		0.662	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		6	54	0	0	0	0	6	54				
PROM2	150696	broad.mit.edu	37	2	95942354	95942354	+	Missense_Mutation	SNP	G	G	A	rs371378593		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:95942354G>A	ENST00000317620.9	+	5	764	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	PROM2_ENST00000403131.2_Missense_Mutation_p.V211M|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Missense_Mutation_p.V211M|PROM2_ENST00000317668.4_Missense_Mutation_p.V211M	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	211					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGCAGGCCGTGGCACAGCA	0.647																																						uc002suh.1		NA																	0				ovary(1)	1						c.(631-633)GTG>ATG		prominin 2 precursor		G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	86.0	88.0	87.0		631,631,631	1.5	0.3	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PROM2	NM_144707.2,NM_001165978.1,NM_001165977.1	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	211/835,211/835,211/835	95942354	1,13005	2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95942354G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.631G>A	2.37:g.95942354G>A	ENSP00000318270:p.Val211Met					PROM2_uc002sui.2_Missense_Mutation_p.V211M|PROM2_uc002suj.2_Translation_Start_Site|PROM2_uc002suk.2_Missense_Mutation_p.V211M|PROM2_uc002sul.2_Intron	p.V211M	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			5	764	+			211			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.631G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	3.928	-0.016685	0.07681	0.0	1.16E-4	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.37	1.55	0.23275	.	0.405826	0.20913	N	0.083421	T	0.43478	0.1249	L	0.43701	1.375	0.34842	D	0.740814	B	0.30281	0.275	B	0.25291	0.059	T	0.46005	-0.9222	10	0.45353	T	0.12	-13.041	7.7371	0.28821	0.2459:0.0:0.7541:0.0	.	211	Q8N271	PROM2_HUMAN	M	211	ENSP00000385716:V211M;ENSP00000318520:V211M;ENSP00000318270:V211M;ENSP00000442542:V211M	ENSP00000318270:V211M	V	+	1	0	PROM2	95306081	0.461000	0.25783	0.336000	0.25522	0.028000	0.11728	0.544000	0.23253	0.125000	0.18397	-1.450000	0.01041	GTG		0.647	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		7	57	0	0	0	0	7	57				
CNNM4	26504	broad.mit.edu	37	2	97427064	97427064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:97427064G>A	ENST00000377075.2	+	1	426	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	110					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CAGCTGCCTCGAGCTCACCAA	0.632																																						uc002swx.2		NA																	0				breast(2)|ovary(1)	3						c.(328-330)GAG>AAG		cyclin M4							52.0	44.0	47.0					2																	97427064		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427064G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.328G>A	2.37:g.97427064G>A	ENSP00000366275:p.Glu110Lys						p.E110K	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			1	426	+			110					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.328G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	14.00	2.406232	0.42715	.	.	ENSG00000158158	ENST00000377075	T	0.72167	-0.63	4.72	3.78	0.43462	.	0.267892	0.28371	U	0.015589	T	0.62196	0.2408	L	0.53249	1.67	0.80722	D	1	B	0.22746	0.074	B	0.10450	0.005	T	0.57871	-0.7736	10	0.15499	T	0.54	-23.035	13.2793	0.60205	0.0:0.1605:0.8395:0.0	.	110	Q6P4Q7	CNNM4_HUMAN	K	110	ENSP00000366275:E110K	ENSP00000366275:E110K	E	+	1	0	CNNM4	96790791	0.961000	0.32948	0.940000	0.37924	0.683000	0.39861	3.198000	0.51035	2.189000	0.69895	0.550000	0.68814	GAG		0.632	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		10	53	0	0	0	0	10	53				
VWA3B	200403	broad.mit.edu	37	2	98779314	98779314	+	Splice_Site	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:98779314G>C	ENST00000477737.1	+	8	1193	c.989G>C	c.(988-990)gGa>gCa	p.G330A	VWA3B_ENST00000435344.1_Splice_Site_p.G330A|VWA3B_ENST00000451075.2_Splice_Site_p.G180A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	330										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCCTTTTAGGAGCTGGAGTC	0.612																																						uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(988-990)GGA>GCA		von Willebrand factor A domain containing 3B							41.0	44.0	43.0					2																	98779314		2099	4237	6336	SO:0001630	splice_region_variant	200403							g.chr2:98779314G>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.989-1G>C	2.37:g.98779314G>C						VWA3B_uc010yvh.1_Missense_Mutation_p.G180A|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.G330A|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_5'UTR	p.G330A	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			8	1253	+			330					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.989G>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315660	0.40996	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.34667	1.35;2.72;2.19	4.68	4.68	0.58851	.	0.105285	0.41938	D	0.000781	T	0.54935	0.1889	M	0.63843	1.955	0.30470	N	0.773391	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.77557	0.925;0.959;0.99	T	0.56426	-0.7981	9	.	.	.	.	12.9809	0.58564	0.0:0.0:1.0:0.0	.	180;330;330	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	A	330;330;180	ENSP00000401959:G330A;ENSP00000417955:G330A;ENSP00000389463:G180A	.	G	+	2	0	VWA3B	98145746	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	2.917000	0.48821	2.428000	0.82296	0.650000	0.86243	GGA		0.612	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Missense_Mutation	5	32	0	0	0	0	5	32				
LRP1B	53353	broad.mit.edu	37	2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:141130669C>T	ENST00000389484.3	-	69	11647	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3559	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368										TSP Lung(27;0.18)			c|||	1	0.000199681	0.0	0.0014	5008	,	,		16910	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10675-10677)CGG>CAG		low density lipoprotein-related protein 1B		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	160.0	150.0	153.0		10676	3.2	1.0	2	dbSNP_134	153	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LRP1B	NM_018557.2	43	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	3559/4600	141130669	5,13001	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130669C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10676G>A	2.37:g.141130669C>T	ENSP00000374135:p.Arg3559Gln	TSP Lung(27;0.18)					p.R3559Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	69	11648	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3559			Extracellular (Potential).|LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10676G>A	CCDS2182.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	5.199	0.222237	0.09863	6.81E-4	2.33E-4	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.50277	0.75	5.54	3.17	0.36434	.	0.163089	0.41712	N	0.000833	T	0.24509	0.0594	N	0.10945	0.07	0.24874	N	0.992266	B	0.02656	0.0	B	0.01281	0.0	T	0.18935	-1.0321	10	0.12766	T	0.61	.	9.9126	0.41415	0.0:0.1385:0.0:0.8615	.	3559	Q9NZR2	LRP1B_HUMAN	Q	3559;3497	ENSP00000374135:R3559Q	ENSP00000374135:R3559Q	R	-	2	0	LRP1B	140847139	1.000000	0.71417	0.986000	0.45419	0.621000	0.37620	2.081000	0.41596	0.401000	0.25424	-0.404000	0.06349	CGG		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	84	0	0	0	0	22	84				
TTN	7273	broad.mit.edu	37	2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T	rs377141765		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:179477175C>T	ENST00000591111.1	-	216	45378	c.45154G>A	c.(45154-45156)Gtc>Atc	p.V15052I	TTN_ENST00000342992.6_Missense_Mutation_p.V14125I|TTN_ENST00000460472.2_Missense_Mutation_p.V7628I|TTN_ENST00000342175.6_Missense_Mutation_p.V7820I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V16693I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7753I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15052	Fibronectin type-III 9. {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)			TTTCGCCTGACGTCTCTCTTT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.001					uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(42373-42375)GTC>ATC		titin isoform N2-A		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,3874		0,0,1937	109.0	97.0	101.0		22882,42373,23257,23458	4.8	1.0	2		101	1,8277		0,1,4138	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6075	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	7628/26927,14125/33424,7753/27052,7820/27119	179477175	1,12151	1937	4139	6076	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477175C>T	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.45154G>A	2.37:g.179477175C>T	ENSP00000465570:p.Val15052Ile					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7820I|TTN_uc010zfi.1_Missense_Mutation_p.V7753I|TTN_uc010zfj.1_Missense_Mutation_p.V7628I	p.V14125I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		215	42597	-			15052					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.42373G>A		.	.	.	.	.	.	.	.	.	.	C	13.42	2.232945	0.39498	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.71	4.82	0.62117	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43897	0.1268	L	0.42245	1.32	0.44188	D	0.997007	P;P;P;P	0.48162	0.843;0.843;0.843;0.906	B;B;B;B	0.35813	0.211;0.211;0.211;0.211	T	0.51741	-0.8667	9	0.87932	D	0	.	15.9443	0.79782	0.1362:0.8638:0.0:0.0	.	7628;7753;7820;15052	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14125;7628;7820;7753;7628	ENSP00000343764:V14125I;ENSP00000434586:V7628I;ENSP00000340554:V7820I;ENSP00000352154:V7753I	ENSP00000340554:V7820I	V	-	1	0	TTN	179185420	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	7.770000	0.85390	1.380000	0.46344	0.563000	0.77884	GTC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	41	0	0	0	0	6	41				
DNAH7	56171	broad.mit.edu	37	2	196605563	196605563	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:196605563C>G	ENST00000312428.6	-	64	11895	c.11795G>C	c.(11794-11796)gGa>gCa	p.G3932A	DNAH7_ENST00000409063.1_Missense_Mutation_p.G415A|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3932					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGGAAGCTCCATCCAGAAA	0.303																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(11794-11796)GGA>GCA		dynein, axonemal, heavy chain 7							97.0	94.0	95.0					2																	196605563		1793	4067	5860	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196605563C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11795G>C	2.37:g.196605563C>G	ENSP00000311273:p.Gly3932Ala					DNAH7_uc002uti.3_Missense_Mutation_p.G415A	p.G3932A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			64	11896	-			3932					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.11795G>C	CCDS42794.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.587015|4.587015	0.86851|0.86851	.|.	.|.	ENSG00000118997|ENSG00000118997	ENST00000438565|ENST00000312428;ENST00000409063	.|T;T	.|0.17691	.|2.26;2.26	4.83|4.83	4.83|4.83	0.62350|0.62350	.|Dynein heavy chain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50871|0.50871	0.1641|0.1641	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.59490|0.59490	-0.7445|-0.7445	6|10	0.87932|0.54805	D|T	0|0.06	.|.	18.0675|18.0675	0.89395|0.89395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3932	.|Q8WXX0	.|DYH7_HUMAN	Q|A	33|3932;415	.|ENSP00000311273:G3932A;ENSP00000386912:G415A	ENSP00000409732:E33Q|ENSP00000311273:G3932A	E|G	-|-	1|2	0|0	DNAH7|DNAH7	196313808|196313808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.177000|7.177000	0.77650|0.77650	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.303	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	82	0	0	0	0	12	82				
CASP8	841	broad.mit.edu	37	2	202151199	202151199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202151199C>T	ENST00000432109.2	+	10	1511	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	CASP8_ENST00000264274.9_Missense_Mutation_p.T357I|CASP8_ENST00000358485.4_Missense_Mutation_p.T500I|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.T458I|CASP8_ENST00000323492.7_Missense_Mutation_p.T426I|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	441					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GATATTCTCACCATCCTGACT	0.413										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1321-1323)ACC>ATC		caspase 8 isoform B precursor							161.0	144.0	149.0					2																	202151199		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202151199C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1322C>T	2.37:g.202151199C>T	ENSP00000412523:p.Thr441Ile	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Missense_Mutation_p.T458I|CASP8_uc002uxq.1_Missense_Mutation_p.T426I|CASP8_uc002uxt.1_Missense_Mutation_p.T500I|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.T426I|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.T357I	p.T441I	NM_033355	NP_203519	Q14790	CASP8_HUMAN			10	1531	+			441					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1322C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329922	0.81690	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.87	3.98	0.46160	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.493125	0.23969	N	0.042790	T	0.51991	0.1707	M	0.92784	3.345	0.80722	D	1	D;D;P;D;D	0.71674	0.998;0.997;0.936;0.963;0.998	D;D;P;P;D	0.65140	0.932;0.926;0.837;0.764;0.931	T	0.63523	-0.6618	10	0.56958	D	0.05	.	12.842	0.57809	0.1265:0.745:0.1285:0.0	.	357;500;441;426;458	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	I	426;357;441;458;500;426;220	ENSP00000376091:T426I;ENSP00000264274:T357I;ENSP00000412523:T441I;ENSP00000264275:T458I;ENSP00000351273:T500I;ENSP00000325722:T426I;ENSP00000394434:T220I	ENSP00000264274:T357I	T	+	2	0	CASP8	201859444	0.274000	0.24191	0.988000	0.46212	0.948000	0.59901	1.616000	0.36933	1.433000	0.47394	0.655000	0.94253	ACC		0.413	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		4	30	0	0	0	0	4	30				
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353																																						uc002uyd.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|stomach(1)|lung(1)	4						c.(232-234)CGG>CGA		STE20-related kinase adaptor beta							127.0	124.0	125.0					2																	202337718		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202337718G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.234G>A	2.37:g.202337718G>A							p.R78R	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			5	599	+			78			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.234G>A	CCDS2348.1																																																																																				0.353	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		4	125	0	0	0	0	4	125				
AAMP	14	broad.mit.edu	37	2	219131638	219131638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:219131638C>T	ENST00000248450.4	-	4	636	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	AAMP_ENST00000420660.1_Missense_Mutation_p.G137S|AAMP_ENST00000444053.1_Missense_Mutation_p.G157S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	156					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAAGAGGCCACTCATGTCC	0.527																																						uc002vhk.2		NA																	0				ovary(1)	1						c.(466-468)GGC>AGC		angio-associated, migratory cell protein							77.0	81.0	79.0					2																	219131638		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219131638C>T	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.466G>A	2.37:g.219131638C>T	ENSP00000248450:p.Gly156Ser					AAMP_uc002vhj.2_Missense_Mutation_p.G137S|AAMP_uc010fvo.2_Missense_Mutation_p.G156S|AAMP_uc002vhl.2_Missense_Mutation_p.G157S	p.G156S	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	550	-		Renal(207;0.0474)	156			WD 2.		Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.466G>A	CCDS33378.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672562	0.96754	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660;ENST00000447885	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.945;1.0	T	0.76375	-0.2982	10	0.24483	T	0.36	-24.2698	18.8213	0.92099	0.0:1.0:0.0:0.0	.	157;156;137	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	S	156;157;137;110	ENSP00000248450:G156S;ENSP00000403343:G157S;ENSP00000416394:G137S;ENSP00000393818:G110S	ENSP00000248450:G156S	G	-	1	0	AAMP	218839882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.788000	0.85771	2.421000	0.82119	0.655000	0.94253	GGC		0.527	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		27	69	0	0	0	0	27	69				
HTR2B	3357	broad.mit.edu	37	2	231973514	231973514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:231973514C>A	ENST00000258400.3	-	4	1675	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	388			R -> W (in dbSNP:rs77982984). {ECO:0000269|PubMed:21179162}.		activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	AAATGCATCCCGAAATGTCTT	0.438																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.2		NA																	0					0						c.(1162-1164)CGG>CTG		5-hydroxytryptamine (serotonin) receptor 2B	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						115.0	117.0	117.0					2																	231973514		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973514C>A		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1163G>T	2.37:g.231973514C>A	ENSP00000258400:p.Arg388Leu					PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.R321L	p.R388L	NM_000867	NP_000858	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1668	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	388			Cytoplasmic (By similarity).		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1163G>T	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095294	0.94197	.	.	ENSG00000135914	ENST00000258400	T	0.57595	0.39	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74951	-0.3489	10	0.87932	D	0	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	203;388	B3VRC5;P41595	.;5HT2B_HUMAN	L	388	ENSP00000258400:R388L	ENSP00000258400:R388L	R	-	2	0	HTR2B	231681758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	CGG		0.438	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		23	101	1	0	1.11e-09	1.46e-09	23	101				
SPTLC3	55304	broad.mit.edu	37	20	13140735	13140735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:13140735C>T	ENST00000399002.2	+	11	1775	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	501					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGCTCGGGCTCGGTTTTGTGT	0.507																																						uc002wod.1		NA																	0					0						c.(1501-1503)CGG>TGG		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						73.0	77.0	76.0					20																	13140735		1859	4107	5966	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13140735C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1501C>T	20.37:g.13140735C>T	ENSP00000381968:p.Arg501Trp						p.R501W	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			11	1790	+			501					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1501C>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448616	0.84101	.	.	ENSG00000172296	ENST00000399002	D	0.98280	-4.84	5.99	2.86	0.33363	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99465	0.9810	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98152	1.0442	10	0.87932	D	0	-11.9058	14.6839	0.69037	0.5128:0.4872:0.0:0.0	.	501	Q9NUV7	SPTC3_HUMAN	W	501	ENSP00000381968:R501W	ENSP00000381968:R501W	R	+	1	2	SPTLC3	13088735	1.000000	0.71417	0.942000	0.38095	0.937000	0.57800	2.777000	0.47717	0.347000	0.23924	0.655000	0.94253	CGG		0.507	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		4	83	0	0	0	0	4	83				
NANP	140838	broad.mit.edu	37	20	25604502	25604502	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:25604502A>T	ENST00000304788.3	-	1	309	c.83T>A	c.(82-84)aTg>aAg	p.M28K	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000420803.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	28					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						TACCTCCAACATGCCTCTCCT	0.692																																						uc002wuy.2		NA																	0					0						c.(82-84)ATG>AAG		N-acetylneuraminic acid phosphatase							33.0	35.0	34.0					20																	25604502		2200	4299	6499	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25604502A>T	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.83T>A	20.37:g.25604502A>T	ENSP00000302441:p.Met28Lys					uc002wuz.2_5'Flank	p.M28K	NM_152667	NP_689880	Q8TBE9	NANP_HUMAN			1	147	-			28					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.83T>A	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545134	0.65198	.	.	ENSG00000170191	ENST00000304788	T	0.05996	3.36	4.99	3.89	0.44902	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.095553	0.64402	D	0.000001	T	0.05364	0.0142	L	0.29908	0.895	0.33637	D	0.606722	B	0.10296	0.003	B	0.08055	0.003	T	0.13818	-1.0495	10	0.38643	T	0.18	-7.4189	9.0499	0.36369	0.9108:0.0:0.0892:0.0	.	28	Q8TBE9	NANP_HUMAN	K	28	ENSP00000302441:M28K	ENSP00000302441:M28K	M	-	2	0	NANP	25552502	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.156000	0.64905	0.732000	0.32470	0.459000	0.35465	ATG		0.692	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		5	45	0	0	0	0	5	45				
MROH8	140699	broad.mit.edu	37	20	35748234	35748234	+	Missense_Mutation	SNP	C	C	T	rs371995323		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:35748234C>T	ENST00000400441.3	-	18	2236	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	MROH8_ENST00000217333.8_Missense_Mutation_p.R575Q|MROH8_ENST00000441008.2_Missense_Mutation_p.R732Q			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	315																	CACTGGACTCCGGAGAAGCTG	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16310	0.0		0.0	False		,,,				2504	0.0					uc010zvu.1		NA																	0					0						c.(2266-2268)CGG>CAG		hypothetical protein LOC140699 isoform 1		C	GLN/ARG	3,3951		0,3,1974	96.0	97.0	97.0		2238	-1.6	1.0	20		97	0,8360		0,0,4180	no	missense	C20orf132	NM_152503.4	43	0,3,6154	TT,TC,CC		0.0,0.0759,0.0244	benign	756/1053	35748234	3,12311	1977	4180	6157	SO:0001583	missense	140699							g.chr20:35748234C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2237G>A	20.37:g.35748234C>T	ENSP00000383291:p.Arg746Gln					C20orf132_uc002xgk.2_Missense_Mutation_p.R378Q	p.R756Q	NM_152503	NP_689716	Q9H579	CT132_HUMAN			20	2358	-		Myeloproliferative disorder(115;0.00878)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2267G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.363|1.363	-0.588332|-0.588332	0.03799|0.03799	7.59E-4|7.59E-4	0.0|0.0	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.66460	.|-0.2;1.47;-0.21	5.35|5.35	-1.58|-1.58	0.08479|0.08479	.|.	.|0.790281	.|0.11628	.|N	.|0.545041	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.03154|0.03154	-0.405|-0.405	0.26709|0.26709	N|N	0.971003|0.971003	.|B;B	.|0.12013	.|0.005;0.002	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.28106|0.28106	-1.0054|-1.0054	5|10	.|0.09843	.|T	.|0.71	-1.4866|-1.4866	9.4563|9.4563	0.38756|0.38756	0.0:0.4255:0.0:0.5745|0.0:0.4255:0.0:0.5745	.|.	.|746;580	.|E7ETR9;Q9H579-2	.|.;.	R|Q	773|732;746;575	.|ENSP00000392144:R732Q;ENSP00000383291:R746Q;ENSP00000217333:R575Q	.|ENSP00000217333:R575Q	G|R	-|-	1|2	0|0	C20orf132|C20orf132	35181648|35181648	0.666000|0.666000	0.27475|0.27475	0.991000|0.991000	0.47740|0.47740	0.552000|0.552000	0.35366|0.35366	-0.296000|-0.296000	0.08287|0.08287	-0.218000|-0.218000	0.10018|0.10018	-1.124000|-1.124000	0.02001|0.02001	GGA|CGG		0.463	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		11	100	0	0	0	0	11	100				
SGK2	10110	broad.mit.edu	37	20	42213608	42213608	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:42213608C>G	ENST00000341458.4	+	12	1455	c.1236C>G	c.(1234-1236)ttC>ttG	p.F412L	SGK2_ENST00000373077.1_Missense_Mutation_p.F351L|SGK2_ENST00000423407.3_Missense_Mutation_p.F352L|SGK2_ENST00000373092.3_Missense_Mutation_p.F352L|SGK2_ENST00000373100.1_Missense_Mutation_p.F352L|SGK2_ENST00000426287.1_Missense_Mutation_p.F378L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	412	AGC-kinase C-terminal.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAGTGCATTCCTGGGATTTT	0.498																																						uc002xkv.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(1234-1236)TTC>TTG		serum/glucocorticoid regulated kinase 2 isoform							107.0	106.0	106.0					20																	42213608		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42213608C>G	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1236C>G	20.37:g.42213608C>G	ENSP00000340608:p.Phe412Leu					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.F352L|SGK2_uc010ggm.2_3'UTR|SGK2_uc002xks.2_Missense_Mutation_p.F351L|SGK2_uc002xku.2_Missense_Mutation_p.F352L	p.F412L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1455	+		Myeloproliferative disorder(115;0.00452)	412			AGC-kinase C-terminal.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.1236C>G	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749048	0.69533	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.64	0.975	0.19721	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.86178	2.8	0.58432	D	0.999995	D;D	0.76494	0.999;0.993	P;D	0.71870	0.886;0.975	D	0.92473	0.5987	10	0.87932	D	0	.	8.5902	0.33682	0.0:0.5191:0.0:0.4809	.	412;352	Q9HBY8;Q9HBY8-2	SGK2_HUMAN;.	L	352;352;351;352;412;378	ENSP00000362192:F352L;ENSP00000362184:F352L;ENSP00000362168:F351L;ENSP00000392795:F352L;ENSP00000340608:F412L;ENSP00000412214:F378L	ENSP00000340608:F412L	F	+	3	2	SGK2	41647022	0.672000	0.27530	0.999000	0.59377	0.720000	0.41350	0.725000	0.25970	0.138000	0.18790	-1.814000	0.00607	TTC		0.498	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			18	134	0	0	0	0	18	134				
HELZ2	85441	broad.mit.edu	37	20	62197118	62197118	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:62197118C>T	ENST00000467148.1	-	8	3126	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	HELZ2_ENST00000427522.2_Silent_p.T450T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1019	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCGCAGCCTCCGTCTGCGCTG	0.687																																						uc002yfm.2		NA																	0				central_nervous_system(2)	2						c.(3055-3057)ACG>ACA		PPAR-alpha interacting complex protein 285							32.0	26.0	28.0					20																	62197118		2195	4290	6485	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62197118C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3057G>A	20.37:g.62197118C>T						PRIC285_uc002yfl.1_Silent_p.T450T	p.T1019T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	3949	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1019			Ala-rich.		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.3057G>A	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		9	41	0	0	0	0	9	41				
DYRK1A	1859	broad.mit.edu	37	21	38877706	38877706	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr21:38877706G>C	ENST00000398960.2	+	9	1435	c.1360G>C	c.(1360-1362)Gac>Cac	p.D454H	DYRK1A_ENST00000451934.1_Missense_Mutation_p.D454H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D226H|DYRK1A_ENST00000339659.4_Missense_Mutation_p.D445H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D454H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.D454H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D454H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAGTTCAAAGACCTCATTTT	0.453																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(1360-1362)GAC>CAC		dual-specificity tyrosine-(Y)-phosphorylation							103.0	100.0	101.0					21																	38877706		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38877706G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1360G>C	21.37:g.38877706G>C	ENSP00000381932:p.Asp454His					DYRK1A_uc002ywi.2_Missense_Mutation_p.D454H|DYRK1A_uc002ywj.2_Missense_Mutation_p.D445H|DYRK1A_uc002ywl.2_Missense_Mutation_p.D454H|DYRK1A_uc002ywm.2_Missense_Mutation_p.D454H|DYRK1A_uc011aei.1_Missense_Mutation_p.D215H	p.D454H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			9	1435	+			454			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1360G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980948	0.92982	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.086238	0.85682	D	0.000000	T	0.72104	0.3419	M	0.88570	2.965	0.80722	D	1	P;P;D;D;P	0.76494	0.656;0.656;0.999;0.999;0.772	B;B;D;D;P	0.75020	0.287;0.405;0.985;0.966;0.505	T	0.76558	-0.2915	10	0.87932	D	0	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	454;454;454;445;454	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	H	454;445;454;454;454;454;226	ENSP00000342690:D454H;ENSP00000340373:D445H;ENSP00000319032:D454H;ENSP00000416089:D454H;ENSP00000381932:D454H;ENSP00000381929:D454H;ENSP00000407854:D226H	ENSP00000319032:D454H	D	+	1	0	DYRK1A	37799576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.790000	0.99075	2.761000	0.94854	0.650000	0.86243	GAC		0.453	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		7	79	0	0	0	0	7	79				
POTEH	23784	broad.mit.edu	37	22	16287402	16287402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:16287402C>T	ENST00000343518.6	-	1	535	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AAAGCGCTGTCGTCGTAGTCT	0.587																																						uc010gqp.2		NA																	0				skin(1)	1						c.(484-486)GAC>AAC		ANKRD26-like family C, member 3							115.0	124.0	121.0					22																	16287402		2029	3884	5913	SO:0001583	missense	23784							g.chr22:16287402C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.484G>A	22.37:g.16287402C>T	ENSP00000340610:p.Asp162Asn					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	p.D162N	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	536	-			162					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.484G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	7.311	0.614941	0.14129	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	0.554	-0.987	0.10249	.	.	.	.	.	T	0.19805	0.0476	L	0.53249	1.67	0.09310	N	1	B	0.24576	0.106	B	0.15484	0.013	T	0.21518	-1.0243	8	0.46703	T	0.11	.	.	.	.	.	162	Q6S545	POTEH_HUMAN	N	125;162;162	ENSP00000340610:D162N	ENSP00000340610:D162N	D	-	1	0	POTEH	14667402	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.504000	0.06375	-0.285000	0.09089	0.152000	0.16155	GAC		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		20	185	0	0	0	0	20	185				
ZDHHC8	29801	broad.mit.edu	37	22	20127072	20127072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:20127072C>T	ENST00000334554.7	+	3	439	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.Q100*|ZDHHC8_ENST00000405930.3_Nonsense_Mutation_p.Q100*|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	100					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCGAGGTATCCAGGTCCGCAT	0.617																																						uc002zrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(298-300)CAG>TAG		zinc finger, DHHC domain containing 8							90.0	83.0	85.0					22																	20127072		2203	4300	6503	SO:0001587	stop_gained	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20127072C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.298C>T	22.37:g.20127072C>T	ENSP00000334490:p.Gln100*					ZDHHC8_uc002zrr.1_Nonsense_Mutation_p.Q100*|ZDHHC8_uc010gsa.2_5'UTR	p.Q100*	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			3	404	+	Colorectal(54;0.0993)		100			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Nonsense_Mutation	SNP	ENST00000334554.7	37	c.298C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419093	0.96092	.	.	ENSG00000099904	ENST00000436518;ENST00000334554;ENST00000320602;ENST00000405930	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.4133	0.87493	0.0:1.0:0.0:0.0	.	.	.	.	X	89;100;100;100	.	ENSP00000317804:Q100X	Q	+	1	0	ZDHHC8	18507072	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.404000	0.79996	2.174000	0.68829	0.462000	0.41574	CAG		0.617	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		4	79	0	0	0	0	4	79				
SUSD2	56241	broad.mit.edu	37	22	24583660	24583660	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24583660C>G	ENST00000358321.3	+	12	2274	c.2013C>G	c.(2011-2013)ctC>ctG	p.L671L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	671					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGACCACCCTCAACCCCAGCC	0.592																																						uc002zzn.1		NA																	0				skin(1)	1						c.(2011-2013)CTC>CTG		sushi domain containing 2 precursor							133.0	127.0	129.0					22																	24583660		2203	4300	6503	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583660C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2013C>G	22.37:g.24583660C>G							p.L671L	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			12	2057	+			671			Extracellular (Potential).		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.2013C>G	CCDS13824.1																																																																																				0.592	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		9	78	0	0	0	0	9	78				
SNRPD3	6634	broad.mit.edu	37	22	24953663	24953663	+	Silent	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24953663T>A	ENST00000215829.3	+	2	608	c.21T>A	c.(19-21)atT>atA	p.I7I	GUCD1_ENST00000404664.3_5'Flank|GUCD1_ENST00000407471.3_5'Flank|GUCD1_ENST00000447813.2_5'Flank|SNRPD3_ENST00000402849.1_Silent_p.I7I|GUCD1_ENST00000402766.1_5'Flank|GUCD1_ENST00000435822.1_5'Flank	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	7					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GTGTGCCGATTAAAGTACTGC	0.478																																						uc003aam.1		NA																	0				ovary(1)	1						c.(19-21)ATT>ATA		small nuclear ribonucleoprotein polypeptide D3							207.0	174.0	185.0					22																	24953663		2203	4300	6503	SO:0001819	synonymous_variant	6634				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	g.chr22:24953663T>A	U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"""small nuclear ribonucleoprotein D3 polypeptide (18kD)"""			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.21T>A	22.37:g.24953663T>A						C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Silent_p.I7I	p.I7I	NM_004175	NP_004166	P62318	SMD3_HUMAN			2	461	+			7					B4DJP7|B5BU13|P43331	Silent	SNP	ENST00000215829.3	37	c.21T>A	CCDS13828.1																																																																																				0.478	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		13	93	0	0	0	0	13	93				
EP300	2033	broad.mit.edu	37	22	41547861	41547861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:41547861G>A	ENST00000263253.7	+	15	4061	c.2842G>A	c.(2842-2844)Gaa>Aaa	p.E948K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	948					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAAGCATTGAAGGACAGGT	0.478			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(2842-2844)GAA>AAA		E1A binding protein p300							95.0	96.0	95.0					22																	41547861		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41547861G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2842G>A	22.37:g.41547861G>A	ENSP00000263253:p.Glu948Lys						p.E948K	NM_001429	NP_001420	Q09472	EP300_HUMAN			15	3237	+			948					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2842G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623690	0.66901	.	.	ENSG00000100393	ENST00000263253	D	0.82984	-1.67	5.52	5.52	0.82312	.	0.132012	0.33382	N	0.004964	T	0.74876	0.3774	N	0.22421	0.69	0.41115	D	0.985771	B	0.27498	0.18	B	0.19946	0.027	T	0.71104	-0.4689	10	0.39692	T	0.17	-6.6212	19.4296	0.94759	0.0:0.0:1.0:0.0	.	948	Q09472	EP300_HUMAN	K	948	ENSP00000263253:E948K	ENSP00000263253:E948K	E	+	1	0	EP300	39877807	1.000000	0.71417	0.992000	0.48379	0.850000	0.48378	8.545000	0.90657	2.587000	0.87381	0.557000	0.71058	GAA		0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		20	121	0	0	0	0	20	121				
OSBPL10	114884	broad.mit.edu	37	3	31712335	31712335	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:31712335T>C	ENST00000396556.2	-	9	1989	c.1867A>G	c.(1867-1869)Aca>Gca	p.T623A	OSBPL10_ENST00000438237.2_Missense_Mutation_p.T559A	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	623					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AATATCACTGTCGCTGAGTAC	0.547																																						uc003cev.2		NA																	0				skin(1)	1						c.(1867-1869)ACA>GCA		oxysterol-binding protein-like protein 10							170.0	148.0	156.0					3																	31712335		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31712335T>C	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1867A>G	3.37:g.31712335T>C	ENSP00000379804:p.Thr623Ala					OSBPL10_uc003ceu.1_Missense_Mutation_p.T380A|OSBPL10_uc011axf.1_Missense_Mutation_p.T559A	p.T623A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	10	2248	-			623					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1867A>G	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	T	5.538	0.284100	0.10513	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	T;T	0.29655	1.56;1.56	5.15	3.93	0.45458	.	0.191267	0.56097	D	0.000040	T	0.23649	0.0572	L	0.38175	1.15	0.20764	N	0.99985	P;B;B	0.40000	0.698;0.011;0.002	B;B;B	0.43990	0.438;0.042;0.014	T	0.09079	-1.0691	10	0.08179	T	0.78	-4.1817	8.6322	0.33926	0.0:0.0769:0.1413:0.7818	.	559;623;391	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	A	623;559	ENSP00000379804:T623A;ENSP00000406124:T559A	ENSP00000379804:T623A	T	-	1	0	OSBPL10	31687339	0.966000	0.33281	0.125000	0.21846	0.060000	0.15804	1.822000	0.39052	1.926000	0.55796	0.374000	0.22700	ACA		0.547	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			12	130	0	0	0	0	12	130				
CTNNB1	1499	broad.mit.edu	37	3	41275708	41275708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41275708C>T	ENST00000349496.5	+	10	1883	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R528*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R535*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	535					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGCCATTCCACGACTAGTTCA	0.488		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(1603-1605)CGA>TGA		beta-catenin	Lithium(DB01356)						165.0	138.0	147.0					3																	41275708		2203	4300	6503	SO:0001587	stop_gained	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275708C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1603C>T	3.37:g.41275708C>T	ENSP00000344456:p.Arg535*					CTNNB1_uc003ckp.2_Nonsense_Mutation_p.R535*|CTNNB1_uc003ckq.2_Nonsense_Mutation_p.R535*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.R535*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.R528*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.R463*|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_5'Flank	p.R535*	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	11	1759	+			535			ARM 10.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	SNP	ENST00000349496.5	37	c.1603C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	42	9.351551	0.99145	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1316	10.5704	0.45196	0.1921:0.7415:0.0:0.0664	.	.	.	.	X	535;535;535;528;535	.	ENSP00000344456:R535X	R	+	1	2	CTNNB1	41250712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.452000	0.35156	1.536000	0.49237	0.655000	0.94253	CGA		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		12	81	0	0	0	0	12	81				
RTP3	83597	broad.mit.edu	37	3	46539589	46539589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:46539589C>A	ENST00000296142.3	+	1	609	c.37C>A	c.(37-39)Cag>Aag	p.Q13K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	13					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCAAATGTTTCAGGAGTTAAT	0.587																																						uc003cps.1		NA																	0				ovary(2)	2						c.(37-39)CAG>AAG		transmembrane protein 7							106.0	96.0	99.0					3																	46539589		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46539589C>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.37C>A	3.37:g.46539589C>A	ENSP00000296142:p.Gln13Lys						p.Q13K	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	1	105	+			13			Cytoplasmic (Potential).		A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.37C>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972612	0.74246	.	.	ENSG00000163825	ENST00000296142	T	0.18016	2.24	4.32	4.32	0.51571	.	0.639173	0.15173	N	0.276537	T	0.44973	0.1319	M	0.82056	2.57	0.34932	D	0.749491	D	0.89917	1.0	D	0.87578	0.998	T	0.58912	-0.7552	10	0.66056	D	0.02	-22.8602	14.7288	0.69365	0.0:1.0:0.0:0.0	.	13	Q9BQQ7	RTP3_HUMAN	K	13	ENSP00000296142:Q13K	ENSP00000296142:Q13K	Q	+	1	0	RTP3	46514593	0.998000	0.40836	0.827000	0.32855	0.035000	0.12851	1.311000	0.33562	2.409000	0.81822	0.655000	0.94253	CAG		0.587	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		9	73	1	0	5.49e-09	7.19e-09	9	73				
USP19	10869	broad.mit.edu	37	3	49152891	49152891	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:49152891C>T	ENST00000398888.2	-	11	1883	c.1565G>A	c.(1564-1566)cGg>cAg	p.R522Q	USP19_ENST00000417901.1_Missense_Mutation_p.R625Q|USP19_ENST00000398892.3_Missense_Mutation_p.R562Q|USP19_ENST00000453664.1_Missense_Mutation_p.R613Q|USP19_ENST00000434032.2_Missense_Mutation_p.R623Q|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.R562Q|USP19_ENST00000398896.1_Missense_Mutation_p.R330Q	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	522	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.R610L(1)|p.R623L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGAAGTCCCGGAGTTCCCG	0.542																																						uc003cwd.1		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(4)|breast(2)|lung(1)	7						c.(1564-1566)CGG>CAG		ubiquitin thioesterase 19							71.0	78.0	76.0					3																	49152891		2080	4235	6315	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152891C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1565G>A	3.37:g.49152891C>T	ENSP00000381863:p.Arg522Gln					USP19_uc003cwa.2_Missense_Mutation_p.R330Q|USP19_uc003cvz.3_Missense_Mutation_p.R625Q|USP19_uc011bcg.1_Missense_Mutation_p.R613Q|USP19_uc003cwb.2_Missense_Mutation_p.R608Q|USP19_uc003cwc.1_Missense_Mutation_p.R280Q|USP19_uc011bch.1_Missense_Mutation_p.R623Q|USP19_uc011bci.1_Missense_Mutation_p.R610Q	p.R522Q	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1726	-			522			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1565G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340885	0.81911	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.974;1.0;1.0;1.0;0.999;1.0;1.0	P;D;D;D;D;D;D	0.91635	0.777;0.999;0.998;0.999;0.994;0.999;0.998	T	0.54221	-0.8326	10	0.42905	T	0.14	-21.3875	19.2102	0.93751	0.0:1.0:0.0:0.0	.	688;623;613;522;562;608;330	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	Q	330;562;625;613;562;522;623	ENSP00000381870:R330Q;ENSP00000381872:R562Q;ENSP00000395260:R625Q;ENSP00000400090:R613Q;ENSP00000381867:R562Q;ENSP00000381863:R522Q;ENSP00000401197:R623Q	ENSP00000381863:R522Q	R	-	2	0	USP19	49127895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	2.628000	0.89032	0.655000	0.94253	CGG		0.542	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		13	73	0	0	0	0	13	73				
CD80	941	broad.mit.edu	37	3	119263487	119263487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:119263487C>A	ENST00000264246.3	-	3	690	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	CD80_ENST00000383669.3_Missense_Mutation_p.D110Y|CD80_ENST00000383668.3_Missense_Mutation_p.D110Y|CD80_ENST00000478182.1_Missense_Mutation_p.D110Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	110	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GTGCCCTCGTCAGATGGGCGC	0.483																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(328-330)GAC>TAC		CD80 antigen precursor	Abatacept(DB01281)						131.0	128.0	129.0					3																	119263487		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119263487C>A		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.328G>T	3.37:g.119263487C>A	ENSP00000264246:p.Asp110Tyr					CD80_uc010hqt.1_Missense_Mutation_p.D110Y|CD80_uc010hqu.1_Missense_Mutation_p.D110Y|CD80_uc003ecr.1_Missense_Mutation_p.D110Y	p.D110Y	NM_005191	NP_005182	P33681	CD80_HUMAN			3	723	-			110			Extracellular (Potential).|Ig-like V-type.		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.328G>T	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893748	0.33442	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000067	D	0.94248	0.8153	M	0.90425	3.115	0.26267	N	0.978481	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88745	0.3246	10	0.87932	D	0	-30.8626	13.9575	0.64160	0.0:1.0:0.0:0.0	.	110;110;110;110	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Y	110	ENSP00000264246:D110Y;ENSP00000418364:D110Y;ENSP00000373165:D110Y;ENSP00000373164:D110Y	ENSP00000264246:D110Y	D	-	1	0	CD80	120746177	0.904000	0.30761	0.105000	0.21289	0.002000	0.02628	3.149000	0.50655	2.665000	0.90641	0.650000	0.86243	GAC		0.483	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		10	86	1	0	0.000673444	0.000832452	10	86				
POLQ	10721	broad.mit.edu	37	3	121208599	121208599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:121208599G>A	ENST00000264233.5	-	16	3307	c.3179C>T	c.(3178-3180)tCt>tTt	p.S1060F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1060					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACACGCTCCAGAGTCTTTCAG	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3178-3180)TCT>TTT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							60.0	68.0	66.0					3																	121208599		2202	4299	6501	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208599G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3179C>T	3.37:g.121208599G>A	ENSP00000264233:p.Ser1060Phe					POLQ_uc003eed.2_Missense_Mutation_p.S232F	p.S1060F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3308	-			1060					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3179C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261303	0.23051	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53857	0.6	5.11	5.11	0.69529	.	0.580895	0.18815	N	0.130419	T	0.43678	0.1258	L	0.27053	0.805	0.33760	D	0.621757	B;B	0.15141	0.001;0.012	B;B	0.16722	0.003;0.016	T	0.54721	-0.8251	10	0.87932	D	0	.	15.8508	0.78930	0.0:0.0:1.0:0.0	.	1060;232	O75417;O75417-2	DPOLQ_HUMAN;.	F	683;1060;1196	ENSP00000264233:S1060F	ENSP00000264233:S1060F	S	-	2	0	POLQ	122691289	0.041000	0.20044	0.948000	0.38648	0.048000	0.14542	0.878000	0.28126	2.658000	0.90341	0.563000	0.77884	TCT		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		10	128	0	0	0	0	10	128				
SEMA5B	54437	broad.mit.edu	37	3	122642482	122642482	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:122642482G>A	ENST00000357599.3	-	10	1640	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	SEMA5B_ENST00000195173.4_Silent_p.N418N|SEMA5B_ENST00000451055.2_Silent_p.N472N	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	418	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGGATGGGGTTGGCTATGG	0.557																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1252-1254)AAC>AAT		semaphorin 5B isoform 1							91.0	91.0	91.0					3																	122642482		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642482G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1254C>T	3.37:g.122642482G>A						SEMA5B_uc011bju.1_Silent_p.N360N|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.N418N|SEMA5B_uc010hro.1_Silent_p.N360N|SEMA5B_uc010hrp.1_RNA	p.N418N	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1558	-			418			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1254C>T	CCDS35491.1																																																																																				0.557	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		13	96	0	0	0	0	13	96				
EPHB1	2047	broad.mit.edu	37	3	134670357	134670357	+	Missense_Mutation	SNP	C	C	T	rs369940994		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:134670357C>T	ENST00000398015.3	+	3	638	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	90	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGAGATGCGCTTCACTGT	0.537																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(268-270)CGC>TGC		ephrin receptor EphB1 precursor		C	CYS/ARG	1,4123		0,1,2061	35.0	37.0	37.0		268	5.7	1.0	3		37	0,8438		0,0,4219	no	missense	EPHB1	NM_004441.4	180	0,1,6280	TT,TC,CC		0.0,0.0242,0.0080	probably-damaging	90/985	134670357	1,12561	2062	4219	6281	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670357C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.268C>T	3.37:g.134670357C>T	ENSP00000381097:p.Arg90Cys					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.R90C	p.R90C	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	488	+			90			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.268C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938794	0.73557	2.42E-4	0.0	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000473867;ENST00000474732	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	5.69	5.69	0.88448	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.00070	-1.2134	10	0.87932	D	0	.	19.8275	0.96624	0.0:1.0:0.0:0.0	.	90;90	B5A969;P54762	.;EPHB1_HUMAN	C	68;90;68;68	ENSP00000417435:R68C;ENSP00000381097:R90C;ENSP00000417216:R68C;ENSP00000418352:R68C	ENSP00000381097:R90C	R	+	1	0	EPHB1	136153047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.684000	0.91462	0.650000	0.86243	CGC		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	42	0	0	0	0	4	42				
HTRA3	94031	broad.mit.edu	37	4	8305956	8305956	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:8305956C>G	ENST00000307358.2	+	8	1350	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	382	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCCCAGAGGTCAGCAGTGGAA	0.597																																						uc003gla.2		NA																	0				ovary(1)	1						c.(1144-1146)GTC>GTG		HtrA serine peptidase 3 precursor							74.0	74.0	74.0					4																	8305956		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8305956C>G	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1146C>G	4.37:g.8305956C>G							p.V382V	NM_053044	NP_444272	P83110	HTRA3_HUMAN			8	1350	+			382			PDZ.		Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.1146C>G	CCDS3400.1																																																																																				0.597	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		9	68	0	0	0	0	9	68				
UGT2B4	7363	broad.mit.edu	37	4	70352332	70352332	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:70352332A>G	ENST00000305107.6	-	4	1131	c.1085T>C	c.(1084-1086)cTt>cCt	p.L362P	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.L226P|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L362P	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	362					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CTTACCAAGAAGATCATTCTG	0.338																																						uc003hek.3		NA																	0				skin(2)	2						c.(1084-1086)CTT>CCT		UDP glucuronosyltransferase 2B4 precursor							113.0	116.0	115.0					4																	70352332		2201	4300	6501	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70352332A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1085T>C	4.37:g.70352332A>G	ENSP00000305221:p.Leu362Pro					UGT2B4_uc011cap.1_Missense_Mutation_p.L226P|UGT2B4_uc003hel.3_Missense_Mutation_p.L362P	p.L362P	NM_021139	NP_066962	P06133	UD2B4_HUMAN			4	1132	-			362					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1085T>C	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625386	0.46840	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.70282	-0.47;-0.47;2.87	1.97	1.97	0.26223	.	0.000000	0.56097	U	0.000029	D	0.87229	0.6125	H	0.97491	4.015	0.51233	D	0.999913	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	0.999;0.941;1.0	D	0.87402	0.2370	10	0.87932	D	0	.	7.869	0.29554	1.0:0.0:0.0:0.0	.	226;362;362	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	P	362;362;226	ENSP00000421290:L362P;ENSP00000305221:L362P;ENSP00000370486:L226P	ENSP00000305221:L362P	L	-	2	0	UGT2B4	70386921	1.000000	0.71417	0.935000	0.37517	0.010000	0.07245	7.629000	0.83207	1.173000	0.42796	0.260000	0.18958	CTT		0.338	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		10	78	0	0	0	0	10	78				
ENAM	10117	broad.mit.edu	37	4	71510266	71510266	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:71510266G>A	ENST00000396073.3	+	9	3404	c.3123G>A	c.(3121-3123)gaG>gaA	p.E1041E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1041					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAAATGAGAGTGAGAGGC	0.448																																						uc011caw.1		NA																	0				ovary(3)	3						c.(3121-3123)GAG>GAA		enamelin precursor							122.0	106.0	111.0					4																	71510266		2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510266G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3123G>A	4.37:g.71510266G>A							p.E1041E	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3404	+			1041					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.3123G>A	CCDS3544.2																																																																																				0.448	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		7	57	0	0	0	0	7	57				
USO1	8615	broad.mit.edu	37	4	76721831	76721831	+	Silent	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:76721831A>C	ENST00000538159.1	+	17	1770	c.1770A>C	c.(1768-1770)ctA>ctC	p.L590L	USO1_ENST00000514213.2_Silent_p.L566L			O60763	USO1_HUMAN	USO1 vesicle transport factor	581	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGAGAAACTAGGATTTATTA	0.353																																						uc003hiu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1741-1743)CTA>CTC		USO1 homolog, vesicle docking protein							98.0	95.0	96.0					4																	76721831		1816	4078	5894	SO:0001819	synonymous_variant	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76721831A>C	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1770A>C	4.37:g.76721831A>C						USO1_uc003hiv.2_Silent_p.L423L|USO1_uc003hiw.2_Silent_p.L416L	p.L581L	NM_003715	NP_003706	O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	1918	+			581			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37	c.1743A>C		.	.	.	.	.	.	.	.	.	.	A	8.651	0.898260	0.17686	.	.	ENSG00000138768	ENST00000441296	.	.	.	5.24	0.984	0.19773	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2311	0.06749	0.454:0.0:0.2371:0.3088	.	.	.	.	S	257	.	.	X	+	2	0	USO1	76940855	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.522000	0.22909	0.366000	0.24427	0.374000	0.22700	TAG		0.353	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		9	77	0	0	0	0	9	77				
FAT1	2195	broad.mit.edu	37	4	187524190	187524190	+	Splice_Site	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:187524190T>C	ENST00000441802.2	-	20	11560		c.e20-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTCCCTCTTCATTCAAAG	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.e20-1		FAT tumor suppressor 1 precursor							82.0	82.0	82.0					4																	187524190		1965	4159	6124	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524190T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11351-2A>G	4.37:g.187524190T>C		HNSCC(5;0.00058)					p.E3784_splice	NM_005245	NP_005236	Q14517	FAT1_HUMAN			20	11539	-									Splice_Site	SNP	ENST00000441802.2	37	c.11351_splice	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012486	0.35511	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7973	0.63180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187761184	1.000000	0.71417	0.965000	0.40720	0.217000	0.24651	5.354000	0.66040	1.698000	0.51180	0.455000	0.32223	.		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	21	70	0	0	0	0	21	70				
CDH10	1008	broad.mit.edu	37	5	24537731	24537731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:24537731C>T	ENST00000264463.4	-	3	791	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTCCATCTCCAGATAAGAT	0.368										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(283-285)GGA>GAA		cadherin 10, type 2 preproprotein							76.0	75.0	75.0					5																	24537731		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537731C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.284G>A	5.37:g.24537731C>T	ENSP00000264463:p.Gly95Glu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G95E	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	616	-			95			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.284G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843672	0.91197	.	.	ENSG00000040731	ENST00000264463	T	0.61980	0.06	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	M	0.88906	2.99	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.85655	0.1285	10	0.87932	D	0	.	19.2219	0.93801	0.0:1.0:0.0:0.0	.	95	Q9Y6N8	CAD10_HUMAN	E	95	ENSP00000264463:G95E	ENSP00000264463:G95E	G	-	2	0	CDH10	24573488	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.486000	0.81215	2.791000	0.96007	0.563000	0.77884	GGA		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	57	0	0	0	0	6	57				
FCHO2	115548	broad.mit.edu	37	5	72285313	72285313	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:72285313A>G	ENST00000430046.2	+	3	301	c.185A>G	c.(184-186)aAt>aGt	p.N62S	FCHO2_ENST00000512348.1_Missense_Mutation_p.N62S|FCHO2_ENST00000341845.6_Missense_Mutation_p.N62S|FCHO2_ENST00000287761.6_Missense_Mutation_p.N62S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	62	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCTGCAAGCAATTATTCACAA	0.348																																						uc003kcl.2		NA																	0				ovary(1)	1						c.(184-186)AAT>AGT		FCH domain only 2 isoform a							120.0	113.0	115.0					5																	72285313		1846	4079	5925	SO:0001583	missense	115548							g.chr5:72285313A>G	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.185A>G	5.37:g.72285313A>G	ENSP00000393776:p.Asn62Ser					FCHO2_uc011csl.1_Missense_Mutation_p.N62S|FCHO2_uc011csk.1_Missense_Mutation_p.N62S|FCHO2_uc011csm.1_5'Flank	p.N62S	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	3	301	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	62			FCH.		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.185A>G	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926143	0.73327	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.13	5.13	0.70059	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	L	0.37630	1.12	0.58432	D	0.999991	P;B;D	0.61080	0.565;0.258;0.989	P;B;D	0.71184	0.627;0.034;0.972	T	0.43048	-0.9415	10	0.23302	T	0.38	-22.3098	15.2282	0.73367	1.0:0.0:0.0:0.0	.	62;62;62	E9PG79;Q0JRZ9-2;Q0JRZ9	.;.;FCHO2_HUMAN	S	62	ENSP00000393776:N62S;ENSP00000344034:N62S;ENSP00000427296:N62S;ENSP00000287761:N62S	ENSP00000287761:N62S	N	+	2	0	FCHO2	72321069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.617000	0.90927	2.058000	0.61347	0.477000	0.44152	AAT		0.348	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		3	11	0	0	0	0	3	11				
VCAN	1462	broad.mit.edu	37	5	82817330	82817330	+	Missense_Mutation	SNP	G	G	A	rs377090663		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:82817330G>A	ENST00000265077.3	+	7	3770	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N|VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1069	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACAAGAGGGCGATGGATCAGC	0.463																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3205-3207)GAT>AAT		versican isoform 1 precursor		G	ASN/ASP,ASN/ASP,,	1,4405	2.1+/-5.4	0,1,2202	81.0	74.0	76.0		3205,3205,,	2.8	0.0	5		76	0,8600		0,0,4300	no	missense,missense,intron,intron	VCAN	NM_001164098.1,NM_004385.4,NM_001126336.2,NM_001164097.1	23,23,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,	1069/1643,1069/3397,,	82817330	1,13005	2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817330G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3205G>A	5.37:g.82817330G>A	ENSP00000265077:p.Asp1069Asn					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D1069N|VCAN_uc003kik.3_Intron	p.D1069N	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3561	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1069			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3205G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674896	0.29783	2.27E-4	0.0	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85629	-1.91;-1.99;-2.01	5.58	2.78	0.32641	.	0.555886	0.17288	N	0.179747	T	0.81531	0.4842	L	0.60455	1.87	0.09310	N	0.999999	D;D	0.56287	0.975;0.957	B;B	0.44108	0.441;0.41	T	0.70521	-0.4849	10	0.39692	T	0.17	.	8.5023	0.33165	0.3276:0.0:0.6724:0.0	.	1069;1069	P13611-3;P13611	.;CSPG2_HUMAN	N	1069;1069;1021	ENSP00000265077:D1069N;ENSP00000342768:D1069N;ENSP00000425959:D1021N	ENSP00000265077:D1069N	D	+	1	0	VCAN	82853086	0.290000	0.24343	0.031000	0.17742	0.458000	0.32498	1.986000	0.40677	0.282000	0.22254	-0.333000	0.08304	GAT		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		10	53	0	0	0	0	10	53				
GPR98	84059	broad.mit.edu	37	5	90074703	90074703	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:90074703T>C	ENST00000405460.2	+	64	12967	c.12871T>C	c.(12871-12873)Tcc>Ccc	p.S4291P	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4291	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCATCCGTTCCAGTGGAGA	0.433																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12871-12873)TCC>CCC		G protein-coupled receptor 98 precursor							146.0	150.0	149.0					5																	90074703		2117	4247	6364	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074703T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12871T>C	5.37:g.90074703T>C	ENSP00000384582:p.Ser4291Pro					GPR98_uc003kjt.2_Missense_Mutation_p.S1997P|GPR98_uc003kjw.2_5'Flank	p.S4291P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	12967	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4291			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12871T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153310	0.57259	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.39406	1.08	5.61	3.12	0.35913	Na-Ca exchanger/integrin-beta4 (2);	0.222660	0.47852	D	0.000202	T	0.67116	0.2859	M	0.90870	3.155	0.32781	N	0.502505	D	0.89917	1.0	D	0.77557	0.99	T	0.75039	-0.3458	10	0.59425	D	0.04	.	8.8226	0.35036	0.1268:0.0:0.1332:0.74	.	4291	Q8WXG9	GPR98_HUMAN	P	4291	ENSP00000384582:S4291P	ENSP00000296619:S4291P	S	+	1	0	GPR98	90110459	0.899000	0.30636	0.001000	0.08648	0.006000	0.05464	4.386000	0.59620	0.365000	0.24400	-0.333000	0.08304	TCC		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	150	0	0	0	0	16	150				
AP3S1	1176	broad.mit.edu	37	5	115205749	115205749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:115205749G>C	ENST00000316788.7	+	3	754	c.197G>C	c.(196-198)aGa>aCa	p.R66T		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	66					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R66T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CTGATTTATAGACATTATGCA	0.303																																						uc003krl.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(196-198)AGA>ACA		adaptor-related protein complex 3, sigma 1							135.0	131.0	132.0					5																	115205749		2202	4298	6500	SO:0001583	missense	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115205749G>C	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.197G>C	5.37:g.115205749G>C	ENSP00000325369:p.Arg66Thr					AP3S1_uc003krk.2_Missense_Mutation_p.R44T|AP3S1_uc003krm.2_Missense_Mutation_p.R66T	p.R66T	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	3	313	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	66					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	c.197G>C	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960367	0.92791	.	.	ENSG00000177879	ENST00000316788	T	0.58210	0.35	5.54	5.54	0.83059	Clathrin adaptor complex, small chain (1);Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	H	0.97051	3.93	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	D	0.88191	0.2877	10	0.87932	D	0	-13.8012	19.4289	0.94756	0.0:0.0:1.0:0.0	.	66;66;66	B2R4I8;Q92572;F5H459	.;AP3S1_HUMAN;.	T	66	ENSP00000325369:R66T	ENSP00000325369:R66T	R	+	2	0	AP3S1	115233648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.268000	0.95675	2.751000	0.94390	0.655000	0.94253	AGA		0.303	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			3	81	0	0	0	0	3	81				
IL3	3562	broad.mit.edu	37	5	131396411	131396411	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:131396411G>T	ENST00000296870.2	+	1	190	c.12G>T	c.(10-12)ctG>ctT	p.L4L		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	4					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TGAGCCGCCTGCCCGTCCTGC	0.587																																						uc003kwe.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(10-12)CTG>CTT		interleukin 3 precursor	Amlexanox(DB01025)						93.0	86.0	88.0					5																	131396411		2203	4300	6503	SO:0001819	synonymous_variant	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131396411G>T	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.12G>T	5.37:g.131396411G>T							p.L4L	NM_000588	NP_000579	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	1	65	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	4					Q6GS87	Silent	SNP	ENST00000296870.2	37	c.12G>T	CCDS4149.1																																																																																				0.587	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		4	56	1	0	0.00024832	0.000308021	4	56				
PCDHA9	9752	broad.mit.edu	37	5	140229894	140229894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140229894C>T	ENST00000532602.1	+	1	2847	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A605V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	605	Cadherin 6. {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(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTACAACGCGTGGCTTTCA	0.682																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1813-1815)GCG>GTG		protocadherin alpha 9 isoform 1 precursor							64.0	70.0	68.0					5																	140229894		2196	4268	6464	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229894C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1814C>T	5.37:g.140229894C>T	ENSP00000436042:p.Ala605Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A605V	p.A605V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2538	+			605			Cadherin 6.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1814C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086622	0.55861	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.22743	1.94;1.94	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.31519	U	0.007519	T	0.60090	0.2242	H	0.96970	3.915	0.30264	N	0.792842	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72297	-0.4335	10	0.87932	D	0	.	15.2417	0.73476	0.0:1.0:0.0:0.0	.	605;605	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	605	ENSP00000436042:A605V;ENSP00000367362:A605V	ENSP00000367362:A605V	A	+	2	0	PCDHA9	140210078	0.966000	0.33281	1.000000	0.80357	0.276000	0.26787	2.587000	0.46128	1.839000	0.53478	0.313000	0.20887	GCG		0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		9	91	0	0	0	0	9	91				
PCDHA11	56138	broad.mit.edu	37	5	140250227	140250227	+	Silent	SNP	C	C	T	rs373909591		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140250227C>T	ENST00000398640.2	+	1	1539	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.697																																						uc003lia.2		NA																	0				breast(1)	1						c.(1537-1539)AGC>AGT		protocadherin alpha 11 isoform 1 precursor							59.0	65.0	63.0					5																	140250227		2201	4298	6499	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250227C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1539C>T	5.37:g.140250227C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S513S	p.S513S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2397	+			513			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1539C>T	CCDS47284.1																																																																																				0.697	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		26	180	0	0	0	0	26	180				
HAVCR1	26762	broad.mit.edu	37	5	156479608	156479608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:156479608G>C	ENST00000339252.3	-	3	969	c.437C>G	c.(436-438)aCg>aGg	p.T146R	HAVCR1_ENST00000425854.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T146R	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGCTCGTTCGAACAGT	0.468																																						uc010jij.1		NA																	0				ovary(1)|skin(1)	2						c.(436-438)ACG>AGG		hepatitis A virus cellular receptor 1							477.0	475.0	476.0					5																	156479608		2151	4249	6400	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479608G>C	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.437C>G	5.37:g.156479608G>C	ENSP00000344844:p.Thr146Arg					HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.T146R|HAVCR1_uc011ddm.1_Missense_Mutation_p.T146R	p.T146R	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	622	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	146			Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|2.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.437C>G	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.284159	0.01398	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.16324	2.41;2.45;2.45;2.41;2.45;2.35	0.361	-0.721	0.11189	.	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.06405	0.002;0.002	T	0.32025	-0.9922	9	0.44086	T	0.13	.	2.2698	0.04087	0.0:0.3261:0.3488:0.325	.	146;146	F1CME6;Q96D42	.;HAVR1_HUMAN	R	146	ENSP00000428524:T146R;ENSP00000427898:T146R;ENSP00000344844:T146R;ENSP00000403333:T146R;ENSP00000440258:T146R;ENSP00000428422:T146R	ENSP00000344844:T146R	T	-	2	0	HAVCR1	156412186	0.073000	0.21202	0.000000	0.03702	0.001000	0.01503	1.681000	0.37618	-0.687000	0.05162	-0.688000	0.03733	ACG		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			60	469	0	0	0	0	60	469				
EBF1	1879	broad.mit.edu	37	5	158522653	158522653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:158522653C>T	ENST00000313708.6	-	4	668	c.386G>A	c.(385-387)cGc>cAc	p.R129H	EBF1_ENST00000380654.4_Missense_Mutation_p.R129H|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.R129H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	129					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R129H(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAATGAGGCGCACGTAGAA	0.483			T	HMGA2	lipoma																																	uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		breast(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(385-387)CGC>CAC		early B-cell factor							71.0	69.0	70.0					5																	158522653		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158522653C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.386G>A	5.37:g.158522653C>T	ENSP00000322898:p.Arg129His					EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Missense_Mutation_p.R129H|EBF1_uc003lxl.3_Missense_Mutation_p.R129H	p.R129H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	688	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	129					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.386G>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478075	0.96291	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.67345	0.41;-0.26;0.45	5.48	5.48	0.80851	.	0.067930	0.64402	N	0.000010	D	0.85013	0.5600	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87284	0.2294	10	0.87932	D	0	-5.1415	19.3542	0.94404	0.0:1.0:0.0:0.0	.	129;129;129	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	H	129	ENSP00000322898:R129H;ENSP00000370029:R129H;ENSP00000428020:R129H	ENSP00000322898:R129H	R	-	2	0	EBF1	158455231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.575000	0.86900	0.655000	0.94253	CGC		0.483	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		15	72	0	0	0	0	15	72				
TENM2	57451	broad.mit.edu	37	5	167643922	167643922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:167643922G>A	ENST00000518659.1	+	22	4267	c.4228G>A	c.(4228-4230)Gcc>Acc	p.A1410T	TENM2_ENST00000403607.2_Missense_Mutation_p.A1234T|TENM2_ENST00000545108.1_Missense_Mutation_p.A1409T|TENM2_ENST00000520394.1_Missense_Mutation_p.A1171T|TENM2_ENST00000519204.1_Missense_Mutation_p.A1289T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1410					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CATGGATGTAGCCCAGGTGAG	0.527																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(4201-4203)GCC>ACC		odz, odd Oz/ten-m homolog 2							90.0	89.0	90.0					5																	167643922		1988	4181	6169	SO:0001583	missense	57451							g.chr5:167643922G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4228G>A	5.37:g.167643922G>A	ENSP00000429430:p.Ala1410Thr					ODZ2_uc003lzr.3_Missense_Mutation_p.A1171T|ODZ2_uc003lzt.3_Missense_Mutation_p.A774T|ODZ2_uc010jje.2_Missense_Mutation_p.A665T	p.A1401T	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	22	4201	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4201G>A		.	.	.	.	.	.	.	.	.	.	G	13.00	2.106442	0.37145	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88975	-1.98;-1.97;-2.06;-2.44;-2.45	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.337961	0.37261	N	0.002180	T	0.67988	0.2952	N	0.01668	-0.77	0.33274	D	0.561341	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.67530	-0.5647	10	0.13470	T	0.59	.	7.0518	0.25077	0.2072:0.0:0.7928:0.0	.	1409;1410;1171	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	1410;1409;1289;1171;1234	ENSP00000429430:A1410T;ENSP00000438635:A1409T;ENSP00000428964:A1289T;ENSP00000427874:A1171T;ENSP00000384905:A1234T	ENSP00000384905:A1234T	A	+	1	0	ODZ2	167576500	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	6.201000	0.72124	2.542000	0.85734	0.655000	0.94253	GCC		0.527	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		10	103	0	0	0	0	10	103				
NUP153	9972	broad.mit.edu	37	6	17669742	17669742	+	Silent	SNP	G	G	C	rs149307511		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:17669742G>C	ENST00000262077.2	-	6	887	c.888C>G	c.(886-888)ctC>ctG	p.L296L	NUP153_ENST00000537253.1_Silent_p.L296L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	296					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTGTGCACTGAGTTGCTTAG	0.383																																						uc003ncd.1		NA																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(886-888)CTC>CTG		nucleoporin 153kDa							84.0	82.0	83.0					6																	17669742		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17669742G>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.888C>G	6.37:g.17669742G>C						NUP153_uc011dje.1_Silent_p.L296L|NUP153_uc010jpl.1_Silent_p.L296L	p.L296L	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		6	1088	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	296					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.888C>G	CCDS4541.1																																																																																				0.383	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			5	36	0	0	0	0	5	36				
HIST1H2AA	221613	broad.mit.edu	37	6	25726614	25726614	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:25726614C>T	ENST00000297012.3	-	1	176	c.142G>A	c.(142-144)Gca>Aca	p.A48T	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	48						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACACTGGTGCGCCTGCCCCT	0.517																																						uc003nfc.2		NA																	0					0						c.(142-144)GCA>ACA		histone cluster 1, H2aa							296.0	221.0	246.0					6																	25726614		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726614C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.142G>A	6.37:g.25726614C>T	ENSP00000297012:p.Ala48Thr					HIST1H2BA_uc003nfd.2_5'Flank	p.A48T	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	177	-			48						Missense_Mutation	SNP	ENST00000297012.3	37	c.142G>A	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315194	0.40996	.	.	ENSG00000164508	ENST00000297012	T	0.63096	-0.02	3.7	-0.219	0.13135	Histone-fold (2);Histone core (1);Histone H2A (2);	0.123058	0.33691	N	0.004655	T	0.47060	0.1425	M	0.94021	3.485	0.19300	N	0.999978	B	0.06786	0.001	B	0.01281	0.0	T	0.53599	-0.8416	10	0.72032	D	0.01	.	4.6796	0.12729	0.1525:0.5691:0.0:0.2784	.	48	Q96QV6	H2A1A_HUMAN	T	48	ENSP00000297012:A48T	ENSP00000297012:A48T	A	-	1	0	HIST1H2AA	25834593	0.746000	0.28272	0.000000	0.03702	0.000000	0.00434	1.507000	0.35758	-0.061000	0.13110	-0.142000	0.14014	GCA		0.517	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		4	65	0	0	0	0	4	65				
HIST1H4E	8367	broad.mit.edu	37	6	26205053	26205053	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:26205053G>C	ENST00000360441.4	+	1	196	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	61					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTTCTGAAGGTGTTTCTGGA	0.567																																						uc003ngy.2		NA																	0				ovary(1)	1						c.(181-183)GTG>CTG		histone cluster 1, H4e							129.0	118.0	122.0					6																	26205053		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205053G>C	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.181G>C	6.37:g.26205053G>C	ENSP00000353624:p.Val61Leu						p.V61L	NM_003545	NP_003536	P62805	H4_HUMAN			1	181	+		all_hematologic(11;0.196)	61					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.181G>C	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	12.00	1.805822	0.31961	.	.	ENSG00000198518	ENST00000360441	T	0.66995	-0.24	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000002	T	0.65719	0.2718	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	T	0.69862	-0.5030	7	0.52906	T	0.07	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	L	61	ENSP00000353624:V61L	ENSP00000353624:V61L	V	+	1	0	HIST1H4E	26313032	1.000000	0.71417	0.491000	0.27477	0.019000	0.09904	7.326000	0.79133	1.521000	0.48983	0.655000	0.94253	GTG		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		9	87	0	0	0	0	9	87				
HIST1H1B	3009	broad.mit.edu	37	6	27834947	27834947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:27834947G>C	ENST00000331442.3	-	1	412	c.361C>G	c.(361-363)Ccc>Gcc	p.P121A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	121					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGCTTTGGGCTTGGCTTCC	0.597																																						uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(361-363)CCC>GCC		histone cluster 1, H1b							83.0	98.0	93.0					6																	27834947		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834947G>C	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.361C>G	6.37:g.27834947G>C	ENSP00000330074:p.Pro121Ala						p.P121A	NM_005322	NP_005313	P16401	H15_HUMAN			1	413	-			121					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.361C>G	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327518	0.24080	.	.	ENSG00000184357	ENST00000331442	T	0.13901	2.55	5.43	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.274773	0.25019	N	0.033766	T	0.05044	0.0135	L	0.28776	0.89	0.43073	D	0.994715	B	0.09022	0.002	B	0.10450	0.005	T	0.23440	-1.0188	10	0.18710	T	0.47	-22.4595	16.1014	0.81175	0.0:0.186:0.814:0.0	.	121	P16401	H15_HUMAN	A	121	ENSP00000330074:P121A	ENSP00000330074:P121A	P	-	1	0	HIST1H1B	27942926	1.000000	0.71417	0.972000	0.41901	0.147000	0.21601	2.633000	0.46519	2.716000	0.92895	0.655000	0.94253	CCC		0.597	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		27	181	0	0	0	0	27	181				
DST	667	broad.mit.edu	37	6	56765371	56765371	+	Missense_Mutation	SNP	C	C	T	rs370358616		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:56765371C>T	ENST00000370754.5	-	3	264	c.265G>A	c.(265-267)Gca>Aca	p.A89T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGGGCAGCTGCGGCCGCTGCA	0.507																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(265-267)GCA>ACA		dystonin isoform 2		C		2,3134		0,2,1566	59.0	57.0	58.0			3.4	0.6	6		58	0,7164		0,0,3582	no	intergenic				0,2,5148	TT,TC,CC		0.0,0.0638,0.0194			56765371	2,10298	1568	3582	5150	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56765371C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.265G>A	6.37:g.56765371C>T	ENSP00000359790:p.Ala89Thr						p.A89T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		3	293	-	Lung NSC(77;0.103)		Error:Variant_position_missing_in_Q03001_after_alignment					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370754.5	37	c.265G>A		.	.	.	.	.	.	.	.	.	.	C	11.95	1.791479	0.31685	6.38E-4	0.0	ENSG00000151914	ENST00000370754;ENST00000449297	T;D	0.95412	-0.67;-3.7	3.42	3.42	0.39159	.	.	.	.	.	D	0.94545	0.8243	.	.	.	0.20821	N	0.999841	D	0.67145	0.996	P	0.57468	0.821	D	0.92605	0.6094	7	0.36615	T	0.2	.	10.6558	0.45673	0.0:1.0:0.0:0.0	.	89	E9PEB9	.	T	89	ENSP00000359790:A89T;ENSP00000393082:A89T	ENSP00000359790:A89T	A	-	1	0	DST	56873330	0.515000	0.26210	0.566000	0.28421	0.336000	0.28762	1.620000	0.36976	2.207000	0.71202	0.455000	0.32223	GCA		0.507	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		11	71	0	0	0	0	11	71				
KPNA5	3841	broad.mit.edu	37	6	117050816	117050816	+	Silent	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:117050816T>C	ENST00000368564.1	+	13	1492	c.1344T>C	c.(1342-1344)ctT>ctC	p.L448L	KPNA5_ENST00000356348.1_Silent_p.L448L			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	445					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TAAATGGACTTGAAAATATTT	0.363																																						uc003pxh.2		NA																	0				breast(3)|skin(1)	4						c.(1342-1344)CTT>CTC		karyopherin alpha 5							106.0	112.0	110.0					6																	117050816		2203	4300	6503	SO:0001819	synonymous_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117050816T>C	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1344T>C	6.37:g.117050816T>C							p.L448L	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	13	1475	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	445			ARM 9.		B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	c.1344T>C	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	T	8.943	0.966348	0.18659	.	.	ENSG00000196911	ENST00000392517	.	.	.	5.78	0.399	0.16325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1345	0.53964	0.0:0.0665:0.6407:0.2927	.	.	.	.	R	31	.	.	X	+	1	0	KPNA5	117157509	0.935000	0.31712	1.000000	0.80357	0.995000	0.86356	-0.113000	0.10774	0.046000	0.15833	-0.321000	0.08615	TGA		0.363	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		16	120	0	0	0	0	16	120				
HDDC2	51020	broad.mit.edu	37	6	125619867	125619867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:125619867C>T	ENST00000398153.2	-	3	344	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	HDDC2_ENST00000608284.1_Missense_Mutation_p.R101Q|HDDC2_ENST00000368377.4_Intron|HDDC2_ENST00000608295.1_Missense_Mutation_p.R101Q	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.R101P(2)		endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GACCTCTTCTCGCCTATGTTT	0.443																																						uc003qaa.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(301-303)CGA>CAA		HD domain containing 2							202.0	177.0	185.0					6																	125619867		1912	4133	6045	SO:0001583	missense	51020						metal ion binding|phosphoric diester hydrolase activity	g.chr6:125619867C>T	AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.302G>A	6.37:g.125619867C>T	ENSP00000381220:p.Arg101Gln					HDDC2_uc003qab.1_Intron	p.R101Q	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)	3	506	-			101			HD.		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	ENST00000398153.2	37	c.302G>A	CCDS43503.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343737	0.61073	.	.	ENSG00000111906	ENST00000398153	T	0.46819	0.86	5.35	4.48	0.54585	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.067500	0.53938	U	0.000045	T	0.21347	0.0514	L	0.43646	1.37	0.80722	D	1	B	0.32507	0.373	B	0.28232	0.087	T	0.07829	-1.0752	10	0.39692	T	0.17	.	9.4663	0.38816	0.0:0.8351:0.0:0.1649	.	101	Q7Z4H3	HDDC2_HUMAN	Q	101	ENSP00000381220:R101Q	ENSP00000381220:R101Q	R	-	2	0	HDDC2	125661566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.634000	0.61325	1.406000	0.46857	0.655000	0.94253	CGA		0.443	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1	NM_016063		4	43	0	0	0	0	4	43				
SDK1	221935	broad.mit.edu	37	7	4014086	4014086	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:4014086A>T	ENST00000404826.2	+	13	2042	c.1903A>T	c.(1903-1905)Agc>Tgc	p.S635C	SDK1_ENST00000389531.3_Missense_Mutation_p.S635C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	635	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTTCTCATCAGCCAGACGTG	0.562																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1903-1905)AGC>TGC		sidekick 1 precursor							155.0	116.0	129.0					7																	4014086		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4014086A>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1903A>T	7.37:g.4014086A>T	ENSP00000385899:p.Ser635Cys						p.S635C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	13	2042	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	635			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1903A>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328835	0.60743	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.69306	-0.39;-0.39	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	H	0.94847	3.59	0.38464	D	0.947298	D	0.89917	1.0	D	0.77557	0.99	D	0.89277	0.3609	10	0.72032	D	0.01	.	10.5557	0.45117	0.8559:0.0:0.0:0.1441	.	635	Q7Z5N4	SDK1_HUMAN	C	635	ENSP00000385899:S635C;ENSP00000374182:S635C	ENSP00000374182:S635C	S	+	1	0	SDK1	3980612	0.966000	0.33281	0.998000	0.56505	0.591000	0.36615	2.214000	0.42853	2.009000	0.58944	0.460000	0.39030	AGC		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		11	49	0	0	0	0	11	49				
NEUROD6	63974	broad.mit.edu	37	7	31377952	31377952	+	Missense_Mutation	SNP	C	C	G	rs199782841	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:31377952C>G	ENST00000297142.3	-	2	1253	c.931G>C	c.(931-933)Gac>Cac	p.D311H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	311					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTGGCTGTCGGTGGGCAAC	0.448																																						uc003tch.2		NA																	0				ovary(2)	2						c.(931-933)GAC>CAC		neurogenic differentiation 6							80.0	81.0	80.0					7																	31377952		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377952C>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.931G>C	7.37:g.31377952C>G	ENSP00000297142:p.Asp311His						p.D311H	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1284	-			311					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.931G>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312517	0.40895	.	.	ENSG00000164600	ENST00000297142	D	0.95853	-3.83	5.13	5.13	0.70059	.	0.148787	0.64402	D	0.000012	D	0.95730	0.8611	M	0.69823	2.125	0.80722	D	1	B	0.29232	0.238	B	0.38020	0.263	D	0.95157	0.8278	10	0.66056	D	0.02	-17.2741	18.5931	0.91222	0.0:1.0:0.0:0.0	.	311	Q96NK8	NDF6_HUMAN	H	311	ENSP00000297142:D311H	ENSP00000297142:D311H	D	-	1	0	NEUROD6	31344477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.386000	0.81285	0.650000	0.86243	GAC		0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		8	71	0	0	0	0	8	71				
ASB4	51666	broad.mit.edu	37	7	95157420	95157420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:95157420G>C	ENST00000325885.5	+	3	854	c.783G>C	c.(781-783)tgG>tgC	p.W261C	ASB4_ENST00000428113.1_Missense_Mutation_p.W261C	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	261					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGGCAGCCTGGAACTGTGACC	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1		NA																	0				central_nervous_system(1)	1						c.(781-783)TGG>TGC		ankyrin repeat and SOCS box-containing protein 4							81.0	69.0	73.0					7																	95157420		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157420G>C	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.783G>C	7.37:g.95157420G>C	ENSP00000321388:p.Trp261Cys		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Missense_Mutation_p.W261C	p.W261C	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	783	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		261			ANK 6.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.783G>C	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275556	0.80580	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.63913	-0.07;-0.07	4.94	4.94	0.65067	Ankyrin repeat-containing domain (3);	0.069321	0.64402	D	0.000006	T	0.77301	0.4110	M	0.64080	1.96	0.80722	D	1	B;D	0.89917	0.159;1.0	B;D	0.97110	0.085;1.0	T	0.75059	-0.3451	10	0.37606	T	0.19	-19.9074	19.0642	0.93103	0.0:0.0:1.0:0.0	.	261;261	Q9Y574;Q14D68	ASB4_HUMAN;.	C	261	ENSP00000321388:W261C;ENSP00000397070:W261C	ENSP00000321388:W261C	W	+	3	0	ASB4	94995356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.689000	0.91719	0.462000	0.41574	TGG		0.562	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		7	66	0	0	0	0	7	66				
PIK3CG	5294	broad.mit.edu	37	7	106509928	106509928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:106509928G>C	ENST00000359195.3	+	2	2232	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R641T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R641T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	641	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAAAATGTAAGAGCCATTGCA	0.453																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1921-1923)AGA>ACA		phosphoinositide-3-kinase, catalytic, gamma							47.0	46.0	47.0					7																	106509928		2203	4299	6502	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509928G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1922G>C	7.37:g.106509928G>C	ENSP00000352121:p.Arg641Thr					PIK3CG_uc003vdu.2_Missense_Mutation_p.R641T|PIK3CG_uc003vdw.2_Missense_Mutation_p.R641T	p.R641T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	2007	+			641					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1922G>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885814	0.72410	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71103	-0.54;-0.54;-0.54	5.54	5.54	0.83059	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.047245	0.85682	D	0.000000	D	0.89866	0.6839	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92697	0.6171	10	0.87932	D	0	-21.3153	19.5024	0.95100	0.0:0.0:1.0:0.0	.	641	P48736	PK3CG_HUMAN	T	641	ENSP00000392258:R641T;ENSP00000419260:R641T;ENSP00000352121:R641T	ENSP00000352121:R641T	R	+	2	0	PIK3CG	106297164	1.000000	0.71417	0.948000	0.38648	0.998000	0.95712	9.496000	0.97967	2.607000	0.88179	0.655000	0.94253	AGA		0.453	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	67	0	0	0	0	5	67				
CNOT4	4850	broad.mit.edu	37	7	135047645	135047645	+	Missense_Mutation	SNP	G	G	A	rs182908121		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:135047645G>A	ENST00000451834.1	-	12	2408	c.2125C>T	c.(2125-2127)Cgc>Tgc	p.R709C	CNOT4_ENST00000423368.2_Missense_Mutation_p.R641C|CNOT4_ENST00000541284.1_Missense_Mutation_p.R712C|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000361528.4_Missense_Mutation_p.R638C			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCTAATGGCGGTCCAGTGTT	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1		NA																	0					0						c.(2134-2136)CGC>TGC		CCR4-NOT transcription complex, subunit 4							227.0	234.0	232.0					7																	135047645		1872	4100	5972	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047645G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2125C>T	7.37:g.135047645G>A	ENSP00000388491:p.Arg709Cys					CNOT4_uc003vss.2_Missense_Mutation_p.R638C|CNOT4_uc011kpz.1_Missense_Mutation_p.R709C|CNOT4_uc003vst.2_Missense_Mutation_p.R641C	p.R712C	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			11	2226	-			Error:Variant_position_missing_in_O95628_after_alignment					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	c.2134C>T	CCDS55167.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.9	4.060079	0.76074	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000361528	T;T;T;T	0.60920	0.34;0.32;0.17;0.15	5.92	5.92	0.95590	.	.	.	.	.	T	0.64594	0.2612	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.982;0.992;0.988;0.988	T	0.69837	-0.5037	9	0.87932	D	0	-9.052	20.3167	0.98654	0.0:0.0:1.0:0.0	.	709;712;641;638	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	C	712;709;641;638	ENSP00000445508:R712C;ENSP00000388491:R709C;ENSP00000406777:R641C;ENSP00000354673:R638C	ENSP00000354673:R638C	R	-	1	0	CNOT4	134698185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.393000	0.97256	2.809000	0.96659	0.557000	0.71058	CGC		0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		45	399	0	0	0	0	45	399				
EPHA1	2041	broad.mit.edu	37	7	143088618	143088618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:143088618G>A	ENST00000275815.3	-	18	2949	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	955	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATTCCCATCTGCGTCAGGTCC	0.622																																						uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(2863-2865)CAG>TAG		ephrin receptor EphA1 precursor							70.0	50.0	57.0					7																	143088618		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143088618G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2863C>T	7.37:g.143088618G>A	ENSP00000275815:p.Gln955*						p.Q955*	NM_005232	NP_005223	P21709	EPHA1_HUMAN			18	2950	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	955			SAM.|Cytoplasmic (Potential).		A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.2863C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	41	9.110543	0.99069	.	.	ENSG00000146904	ENST00000275815	.	.	.	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	13.9359	0.64026	0.0:0.0:0.8483:0.1517	.	.	.	.	X	955	.	ENSP00000275815:Q955X	Q	-	1	0	EPHA1	142798740	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	4.002000	0.57053	2.724000	0.93272	0.561000	0.74099	CAG		0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			6	33	0	0	0	0	6	33				
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						uc003wel.2		NA																	5	Substitution - coding silent(5)		endometrium(2)|lung(1)|prostate(1)|kidney(1)	skin(2)	2						c.(1006-1008)AAT>AAC		rho guanine nucleotide exchange factor 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C						ARHGEF5_uc003wek.2_Silent_p.N336N	p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			2	1126	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		3	162	0	0	0	0	3	162				
DPP6	1804	broad.mit.edu	37	7	154561208	154561208	+	Missense_Mutation	SNP	G	G	A	rs368682396		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:154561208G>A	ENST00000377770.3	+	9	1106	c.965G>A	c.(964-966)cGt>cAt	p.R322H	DPP6_ENST00000404039.1_Missense_Mutation_p.R258H|DPP6_ENST00000427557.1_Missense_Mutation_p.R215H|DPP6_ENST00000332007.3_Missense_Mutation_p.R260H			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	322					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AATGATTCCCGTGTCCCCATC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18972	0.0		0.0	False		,,,				2504	0.0				NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(964-966)CGT>CAT		dipeptidyl-peptidase 6 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG	5,4005		0,5,2000	67.0	68.0	67.0		419,338,338	5.3	1.0	7		67	0,8322		0,0,4161	no	missense,missense,missense	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	29,29,29	0,5,6161	AA,AG,GG		0.0,0.1247,0.0405	probably-damaging,probably-damaging,probably-damaging	140/684,113/657,113/657	154561208	5,12327	2005	4161	6166	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561208G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.965G>A	7.37:g.154561208G>A	ENSP00000367001:p.Arg322His					DPP6_uc003wli.2_Missense_Mutation_p.R258H|DPP6_uc003wlm.2_Missense_Mutation_p.R260H|DPP6_uc011kvq.1_Missense_Mutation_p.R215H	p.R322H	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1094	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	322			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.965G>A		.	.	.	.	.	.	.	.	.	.	G	16.99	3.275320	0.59649	0.001247	0.0	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.28	5.28	0.74379	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.131388	0.52532	D	0.000065	T	0.36276	0.0961	N	0.22421	0.69	0.42761	D	0.993802	D;D;D;D	0.76494	0.995;0.998;0.999;0.999	P;P;P;P	0.61477	0.86;0.823;0.889;0.889	T	0.09862	-1.0655	10	0.44086	T	0.13	-23.897	12.2895	0.54810	0.0772:0.0:0.9228:0.0	.	215;260;322;258	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	H	258;322;260;215	ENSP00000385578:R258H;ENSP00000367001:R322H;ENSP00000328226:R260H;ENSP00000397303:R215H	ENSP00000328226:R260H	R	+	2	0	DPP6	154192141	1.000000	0.71417	0.954000	0.39281	0.803000	0.45373	4.374000	0.59543	2.469000	0.83416	0.655000	0.94253	CGT		0.552	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		7	52	0	0	0	0	7	52				
ADAM7	8756	broad.mit.edu	37	8	24333985	24333985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24333985C>T	ENST00000175238.6	+	8	756	c.673C>T	c.(673-675)Cga>Tga	p.R225*	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R225*	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTAAGGAACCGAATTTGGGG	0.328																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(673-675)CGA>TGA		a disintegrin and metalloproteinase domain 7							114.0	106.0	109.0					8																	24333985		2203	4300	6503	SO:0001587	stop_gained	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24333985C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.673C>T	8.37:g.24333985C>T	ENSP00000175238:p.Arg225*					ADAM7_uc003xec.2_5'UTR	p.R225*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	8	786	+		Prostate(55;0.0181)	225			Peptidase M12B.|Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	ENST00000175238.6	37	c.673C>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	37	6.589310	0.97688	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000335595	.	.	.	5.38	2.32	0.28847	.	0.000000	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9142	0.47126	0.496:0.504:0.0:0.0	.	.	.	.	X	225;225;40	.	ENSP00000175238:R225X	R	+	1	2	ADAM7	24389875	0.428000	0.25522	0.898000	0.35279	0.991000	0.79684	0.270000	0.18607	0.721000	0.32231	0.591000	0.81541	CGA		0.328	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		5	43	0	0	0	0	5	43				
NEFL	4747	broad.mit.edu	37	8	24811239	24811239	+	RNA	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24811239G>T	ENST00000221169.5	-	0	1834				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGGAGCTCTGGGAGTAGCCA	0.562																																						uc003xee.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1240-1242)CAG>AAG		neurofilament, light polypeptide 68kDa							38.0	45.0	43.0					8																	24811239		1952	4165	6117			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811239G>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811239G>T							p.Q414K	NM_006158	NP_006149	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	1342	-		Ovarian(32;0.00965)|Prostate(55;0.157)	414			Tail.|Tail, subdomain A.		B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37	c.1240C>A																																																																																					0.562	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		12	80	1	0	1.62e-10	2.14e-10	12	80				
POTEA	340441	broad.mit.edu	37	8	43152233	43152233	+	RNA	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:43152233C>G	ENST00000522175.2	+	0	372							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGACAATGTCAACTTCATGT	0.388																																						uc003xpz.1		NA																	0				ovary(1)	1						c.(370-372)CAA>GAA		POTE ankyrin domain family, member A isoform 2							101.0	100.0	100.0					8																	43152233		2168	4289	6457			340441							g.chr8:43152233C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152233C>G						POTEA_uc003xqa.1_Missense_Mutation_p.Q124E	p.Q124E	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			2	413	+			124			ANK 1.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.370C>G																																																																																					0.388	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		5	111	0	0	0	0	5	111				
PRKDC	5591	broad.mit.edu	37	8	48733339	48733339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:48733339G>A	ENST00000314191.2	-	67	9330	c.9274C>T	c.(9274-9276)Caa>Taa	p.Q3092*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3092*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3093	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				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)	ACATCATCTTGCAGGAGGTAA	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(9277-9279)CAA>TAA	NHEJ	protein kinase, DNA-activated, catalytic							40.0	39.0	39.0					8																	48733339		1884	4112	5996	SO:0001587	stop_gained	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.chr8:48733339G>A		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.9274C>T	8.37:g.48733339G>A	ENSP00000313420:p.Gln3092*					PRKDC_uc003xqj.2_Nonsense_Mutation_p.Q3093*|PRKDC_uc011ldh.1_Intron	p.Q3093*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			67	9334	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3093			KIP-binding.|FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.9277C>T		.	.	.	.	.	.	.	.	.	.	G	49	15.160954	0.99824	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.0225	0.92920	0.0:0.0:1.0:0.0	.	.	.	.	X	3092	.	ENSP00000313420:Q3092X	Q	-	1	0	PRKDC	48895892	1.000000	0.71417	0.758000	0.31321	0.066000	0.16364	9.420000	0.97426	2.548000	0.85928	0.650000	0.86243	CAA		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	21	0	0	0	0	7	21				
TRPA1	8989	broad.mit.edu	37	8	72951161	72951161	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:72951161G>T	ENST00000262209.4	-	19	2441	c.2234C>A	c.(2233-2235)gCt>gAt	p.A745D	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	745					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGAGTTGAAAGCCATTCCTGG	0.328																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2233-2235)GCT>GAT		ankyrin-like protein 1	Menthol(DB00825)						97.0	94.0	95.0					8																	72951161		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72951161G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2234C>A	8.37:g.72951161G>T	ENSP00000262209:p.Ala745Asp					uc011lff.1_Intron|uc003xyy.2_Intron	p.A745D	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		19	2409	-			745			Extracellular (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2234C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878644	0.33162	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.76448	-1.02;-1.02	5.46	4.59	0.56863	.	0.301194	0.37577	N	0.002030	T	0.65270	0.2675	L	0.28274	0.84	0.38069	D	0.936305	B	0.14012	0.009	B	0.10450	0.005	T	0.61357	-0.7079	10	0.16896	T	0.51	-9.936	14.4142	0.67137	0.0:0.1649:0.8351:0.0	.	745	O75762	TRPA1_HUMAN	D	597;745	ENSP00000428151:A597D;ENSP00000262209:A745D	ENSP00000262209:A745D	A	-	2	0	TRPA1	73113715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.192000	0.58378	1.429000	0.47314	0.650000	0.86243	GCT		0.328	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		10	73	1	0	2.74e-10	3.62e-10	10	73				
PLEC	5339	broad.mit.edu	37	8	145003892	145003892	+	Missense_Mutation	SNP	C	C	T	rs372173655		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:145003892C>T	ENST00000322810.4	-	23	3425	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	PLEC_ENST00000527096.1_Missense_Mutation_p.E972K|PLEC_ENST00000345136.3_Missense_Mutation_p.E949K|PLEC_ENST00000436759.2_Missense_Mutation_p.E976K|PLEC_ENST00000354589.3_Missense_Mutation_p.E949K|PLEC_ENST00000357649.2_Missense_Mutation_p.E953K|PLEC_ENST00000356346.3_Missense_Mutation_p.E935K|PLEC_ENST00000354958.2_Missense_Mutation_p.E927K|PLEC_ENST00000398774.2_Missense_Mutation_p.E917K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1086	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCGGTCCTCGGGTCCGAAG	0.692																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3256-3258)GAG>AAG		plectin isoform 1		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3976		0,0,1988	8.0	11.0	10.0		2926,2803,2779,3256,2749,2845,2857,2845	4.2	0.8	8		10	1,8185		0,1,4092	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	56,56,56,56,56,56,56,56	0,1,6080	TT,TC,CC		0.0122,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	976/4575,935/4534,927/4526,1086/4685,917/4516,949/4548,953/4552,949/4548	145003892	1,12161	1988	4093	6081	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145003892C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3256G>A	8.37:g.145003892C>T	ENSP00000323856:p.Glu1086Lys					PLEC_uc003zab.1_Missense_Mutation_p.E949K|PLEC_uc003zac.1_Missense_Mutation_p.E953K|PLEC_uc003zad.2_Missense_Mutation_p.E949K|PLEC_uc003zae.1_Missense_Mutation_p.E917K|PLEC_uc003zag.1_Missense_Mutation_p.E927K|PLEC_uc003zah.2_Missense_Mutation_p.E935K|PLEC_uc003zaj.2_Missense_Mutation_p.E976K	p.E1086K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			23	3426	-			1086			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3256G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085658	0.20390	0.0	1.22E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76968	-1.02;-1.02;-1.06;-1.05;-1.04;-1.02;-1.02;-1.02;-1.02	5.09	4.2	0.49525	.	0.388264	0.20135	U	0.098512	T	0.65091	0.2658	L	0.34521	1.04	0.36304	D	0.857208	P;P;P;P;P;P;P;P	0.48230	0.907;0.907;0.907;0.85;0.907;0.907;0.907;0.907	B;B;B;B;B;B;B;B	0.34138	0.176;0.176;0.176;0.085;0.176;0.176;0.176;0.176	T	0.73186	-0.4062	10	0.56958	D	0.05	.	14.4826	0.67592	0.1488:0.8512:0.0:0.0	.	976;935;927;1086;917;949;953;949	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	949;953;949;917;1086;927;935;976;972	ENSP00000344848:E949K;ENSP00000350277:E953K;ENSP00000346602:E949K;ENSP00000381756:E917K;ENSP00000323856:E1086K;ENSP00000347044:E927K;ENSP00000348702:E935K;ENSP00000388180:E976K;ENSP00000434583:E972K	ENSP00000323856:E1086K	E	-	1	0	PLEC	145075880	1.000000	0.71417	0.757000	0.31301	0.001000	0.01503	4.391000	0.59652	1.108000	0.41662	-0.330000	0.08379	GAG		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	21	0	0	0	0	10	21				
SPTAN1	6709	broad.mit.edu	37	9	131348167	131348167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:131348167G>A	ENST00000372731.4	+	19	2811	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E901K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E901K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	901					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGCTAACGAGGCTGAATC	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2701-2703)GAG>AAG		spectrin, alpha, non-erythrocytic 1							101.0	93.0	96.0					9																	131348167		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131348167G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2701G>A	9.37:g.131348167G>A	ENSP00000361816:p.Glu901Lys					SPTAN1_uc011mbg.1_Missense_Mutation_p.E901K|SPTAN1_uc011mbh.1_Missense_Mutation_p.E913K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E901K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E901K	p.E901K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			19	2814	+			901			Spectrin 10.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2701G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003275	0.74932	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55930	0.49;0.49;0.49	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.996;1.0;0.997;1.0	D;D;D;P;D	0.97110	0.974;0.983;0.999;0.712;1.0	D	0.85672	0.1295	10	0.72032	D	0.01	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	901;901;901;901;901	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	901	ENSP00000350882:E901K;ENSP00000361816:E901K;ENSP00000361824:E901K	ENSP00000350882:E901K	E	+	1	0	SPTAN1	130387988	1.000000	0.71417	0.729000	0.30791	0.365000	0.29674	9.420000	0.97426	2.832000	0.97577	0.655000	0.94253	GAG		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		10	79	0	0	0	0	10	79				
PPAPDC3	84814	broad.mit.edu	37	9	134165490	134165490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:134165490C>T	ENST00000372264.3	+	1	410	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R36C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	36					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCCGGAGCCCCGCAGCTCGGG	0.706																																						uc004cal.2		NA																	0				breast(1)	1						c.(106-108)CGC>TGC		phosphatidic acid phosphatase type 2 domain							13.0	15.0	14.0					9																	134165490		2190	4285	6475	SO:0001583	missense	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165490C>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.106C>T	9.37:g.134165490C>T	ENSP00000361338:p.Arg36Cys						p.R36C	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	410	+	all_hematologic(7;0.0119)		36			Cytoplasmic (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	c.106C>T	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423053	0.62733	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.47177	1.84;0.85	5.38	3.26	0.37387	.	0.068714	0.64402	D	0.000014	T	0.51517	0.1679	L	0.44542	1.39	0.58432	D	0.999999	D	0.76494	0.999	P	0.54924	0.764	T	0.55768	-0.8089	10	0.66056	D	0.02	-29.4459	12.5279	0.56098	0.4451:0.5549:0.0:0.0	.	36	Q8NBV4	PPAC3_HUMAN	C	36	ENSP00000361338:R36C;ENSP00000361335:R36C	ENSP00000361335:R36C	R	+	1	0	PPAPDC3	133155311	0.993000	0.37304	0.995000	0.50966	0.500000	0.33767	1.723000	0.38053	1.214000	0.43395	0.561000	0.74099	CGC		0.706	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		9	23	0	0	0	0	9	23				
CCDC183	84960	broad.mit.edu	37	9	139694847	139694847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139694847C>T	ENST00000338005.6	+	5	480	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.R179C|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		149										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGATCATCCGCCAGCTGGA	0.592																																						uc004cjf.2		NA																	0				ovary(1)	1						c.(445-447)CGC>TGC		hypothetical protein LOC84960							35.0	41.0	39.0					9																	139694847		2043	4169	6212	SO:0001583	missense	84960							g.chr9:139694847C>T																												ENST00000338005.6:c.445C>T	9.37:g.139694847C>T	ENSP00000338013:p.Arg149Cys						p.R149C	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	5	493	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	149			Potential.		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	c.445C>T	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459297	0.84317	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.67698	-0.28	4.19	4.19	0.49359	.	0.000000	0.42821	U	0.000658	T	0.77678	0.4166	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78715	-0.2096	10	0.52906	T	0.07	-12.6963	12.0196	0.53336	0.0:1.0:0.0:0.0	.	149	Q5T5S1	K1984_HUMAN	C	149	ENSP00000338013:R149C	ENSP00000338013:R149C	R	+	1	0	KIAA1984	138814668	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.923000	0.48868	1.873000	0.54277	0.305000	0.20034	CGC		0.592	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			3	17	0	0	0	0	3	17				
LCNL1	401562	broad.mit.edu	37	9	139878139	139878139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139878139C>T	ENST00000408973.2	+	1	695	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	34																	GGTGACCTGGCCCTCAAGTTT	0.572																																						uc004ckh.1		NA																	0					0						c.(100-102)GCC>GTC		lipocalin-like 1							115.0	122.0	120.0					9																	139878139		2067	4192	6259	SO:0001583	missense	401562						binding	g.chr9:139878139C>T		CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"""Lipocalins"""	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.101C>T	9.37:g.139878139C>T	ENSP00000386162:p.Ala34Val						p.A34V	NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN			1	695	+			34						Missense_Mutation	SNP	ENST00000408973.2	37	c.101C>T	CCDS43908.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.067939	0.36470	.	.	ENSG00000214402	ENST00000408973	T	0.08102	3.13	4.92	0.444	0.16592	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.12050	0.0293	N	0.22421	0.69	0.09310	N	1	D	0.63880	0.993	D	0.64776	0.929	T	0.32613	-0.9900	9	0.30078	T	0.28	.	8.374	0.32432	0.2304:0.305:0.4646:0.0	.	34	Q6ZST4	LCNL1_HUMAN	V	34	ENSP00000386162:A34V	ENSP00000386162:A34V	A	+	2	0	LCNL1	138997960	0.001000	0.12720	0.629000	0.29254	0.291000	0.27294	-0.229000	0.09098	0.085000	0.17107	-0.319000	0.08680	GCC		0.572	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356128.1	NM_207510		10	108	0	0	0	0	10	108				
KLHL13	90293	broad.mit.edu	37	X	117043397	117043397	+	Silent	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:117043397G>C	ENST00000262820.3	-	5	2142	c.1233C>G	c.(1231-1233)gtC>gtG	p.V411V	KLHL13_ENST00000469946.1_Silent_p.V360V|KLHL13_ENST00000371878.1_Silent_p.V360V|KLHL13_ENST00000545703.1_Silent_p.V369V|KLHL13_ENST00000541812.1_Silent_p.V395V|KLHL13_ENST00000540167.1_Silent_p.V395V|KLHL13_ENST00000371876.1_Silent_p.V360V|KLHL13_ENST00000539496.1_Silent_p.V414V|KLHL13_ENST00000371882.1_Silent_p.V360V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	411					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATCTGAAGACTGTATCAA	0.413																																						uc004eql.2		NA																	0				kidney(1)|skin(1)	2						c.(1231-1233)GTC>GTG		kelch-like 13							94.0	79.0	84.0					X																	117043397		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043397G>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1233C>G	X.37:g.117043397G>C						KLHL13_uc004eqk.2_Silent_p.V360V|KLHL13_uc011mtn.1_Silent_p.V251V|KLHL13_uc011mto.1_Silent_p.V405V|KLHL13_uc011mtp.1_Silent_p.V413V|KLHL13_uc004eqm.2_Silent_p.V360V|KLHL13_uc011mtq.1_Silent_p.V395V	p.V411V	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			5	1295	-			411			Kelch 2.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.1233C>G	CCDS14571.1																																																																																				0.413	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		10	44	0	0	0	0	10	44				
LAMP2	3920	broad.mit.edu	37	X	119565263	119565263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:119565263G>A	ENST00000200639.4	-	9	1284	c.1148C>T	c.(1147-1149)gCt>gTt	p.A383V	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	383					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGCCAAGGCAGCTCCCACCGC	0.448																																						uc004est.3		NA																	0				ovary(1)	1						c.(1147-1149)GCT>GTT		lysosomal-associated membrane protein 2 isoform							173.0	161.0	165.0					X																	119565263		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119565263G>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1148C>T	X.37:g.119565263G>A	ENSP00000200639:p.Ala383Val					LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron	p.A383V	NM_002294	NP_002285	P13473	LAMP2_HUMAN			9	1328	-			383			Helical; (Potential).		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1148C>T	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527111	0.44969	.	.	ENSG00000005893	ENST00000200639	T	0.36699	1.24	5.82	4.95	0.65309	Lysosome-associated membrane glycoprotein, conserved site (1);	.	.	.	.	T	0.30230	0.0758	L	0.38531	1.155	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.05818	-1.0862	9	0.44086	T	0.13	.	13.0569	0.58986	0.0814:0.0:0.9186:0.0	.	383	P13473	LAMP2_HUMAN	V	383	ENSP00000200639:A383V	ENSP00000200639:A383V	A	-	2	0	LAMP2	119449291	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.672000	0.68102	2.461000	0.83175	0.597000	0.82753	GCT		0.448	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			28	98	0	0	0	0	28	98				
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:139866350G>A	ENST00000370532.2	-	1	373	c.182C>T	c.(181-183)aCg>aTg	p.T61M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	61	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438																																						uc004fbg.1		NA																	0					0						c.(181-183)ACG>ATG		cerebellar degeneration-related protein 1,							105.0	100.0	101.0					X																	139866350		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866350G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.182C>T	X.37:g.139866350G>A	ENSP00000359563:p.Thr61Met					uc004fbf.1_RNA	p.T61M	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	374	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	61			10.|23 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.182C>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942113	0.34283	.	.	ENSG00000184258	ENST00000370532	T	0.30182	1.54	4.7	-9.4	0.00616	.	.	.	.	.	T	0.10809	0.0264	N	0.14661	0.345	0.09310	N	1	B	0.23058	0.079	B	0.11329	0.006	T	0.17319	-1.0373	8	.	.	.	.	2.9704	0.05920	0.165:0.2147:0.4297:0.1906	.	61	P51861	CDR1_HUMAN	M	61	ENSP00000359563:T61M	.	T	-	2	0	CDR1	139694016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.630000	0.02028	-1.566000	0.01673	-1.169000	0.01745	ACG		0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		32	89	0	0	0	0	32	89				
SLITRK4	139065	broad.mit.edu	37	X	142718785	142718785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:142718785G>A	ENST00000381779.4	-	2	365	c.140C>T	c.(139-141)tCa>tTa	p.S47L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S47L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S47L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	47						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTAGACTGAAACCTTCTC	0.363																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(139-141)TCA>TTA		slit and trk like 4 protein precursor							69.0	65.0	66.0					X																	142718785		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718785G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.140C>T	X.37:g.142718785G>A	ENSP00000371198:p.Ser47Leu					SLITRK4_uc004fby.2_Missense_Mutation_p.S47L	p.S47L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	516	-	Acute lymphoblastic leukemia(192;6.56e-05)		47			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.140C>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026389	0.35701	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54479	0.57;0.57;0.57	5.61	5.61	0.85477	.	0.297115	0.31461	N	0.007619	T	0.55097	0.1899	M	0.64404	1.975	0.37960	D	0.932953	B	0.22604	0.072	B	0.26094	0.066	T	0.59783	-0.7389	10	0.87932	D	0	-7.0417	17.0458	0.86502	0.0:0.0:1.0:0.0	.	47	Q8IW52	SLIK4_HUMAN	L	47	ENSP00000371198:S47L;ENSP00000349400:S47L;ENSP00000336627:S47L	ENSP00000336627:S47L	S	-	2	0	SLITRK4	142546451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.414000	0.73318	2.345000	0.79718	0.600000	0.82982	TCA		0.363	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		10	27	0	0	0	0	10	27				
PLXNA3	55558	broad.mit.edu	37	X	153689702	153689702	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:153689702C>T	ENST00000369682.3	+	3	1033	c.858C>T	c.(856-858)ggC>ggT	p.G286G		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCGCGGCGTGGAGTACC	0.637																																						uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(856-858)GGC>GGT		plexin A3 precursor							64.0	61.0	62.0					X																	153689702		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689702C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.858C>T	X.37:g.153689702C>T							p.G286G	NM_017514	NP_059984	P51805	PLXA3_HUMAN			3	1031	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		286			Sema.|Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.858C>T	CCDS14752.1																																																																																				0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		22	52	0	0	0	0	22	52				
NOC3L	64318	broad.mit.edu	37	10	96117971	96117972	+	Splice_Site	INS	-	-	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:96117971_96117972insT	ENST00000371361.3	-	3	318_319	c.218_219insA	c.(217-219)ggt>ggAt	p.G73fs	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Splice_Site_p.G73fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	73					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAATCCTTTTACCTGTACCACA	0.376																																						uc001kjq.1		NA																	0				ovary(1)	1						c.(217-219)GGTfs		nucleolar complex associated 3 homolog																																				SO:0001630	splice_region_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96117971_96117972insT	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.218-1->A	10.37:g.96117971_96117972insT						NOC3L_uc009xuk.1_5'UTR	p.G73fs	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			3	306_307	-		Colorectal(252;0.0897)	73					Q9H5M6|Q9H9D8	Frame_Shift_Ins	INS	ENST00000371361.3	37	c.218_219insA	CCDS7433.1																																																																																				0.376	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	Frame_Shift_Ins	7	94	NA	NA	NA	NA	7	94	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53854894	53854895	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:53854894_53854895delGT	ENST00000439930.3	+	6	493_494	c.471_472delGT	c.(469-474)gagtgtfs	p.C158fs	RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000552296.2_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000437231.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000359282.5_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000549863.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000455667.3_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000447282.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000603815.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000359462.5_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000541275.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000548933.1_Frame_Shift_Del_p.C158fs|PCBP2_ENST00000552819.1_Frame_Shift_Del_p.C158fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	158	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCATCATTGAGTGTGTCAAACA	0.53																																						uc001sdl.3		NA																	0					0						c.(469-474)GAGTGTfs		poly(rC) binding protein 2 isoform d																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53854894_53854895delGT	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.471_472delGT	12.37:g.53854898_53854899delGT	ENSP00000408949:p.Cys158fs					PCBP2_uc001sdc.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdb.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sde.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdi.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdd.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdf.3_Frame_Shift_Del_p.E157fs|PCBP2_uc009zna.2_Frame_Shift_Del_p.E118fs|PCBP2_uc010soi.1_5'Flank|PCBP2_uc001sdj.3_5'Flank|PCBP2_uc010soj.1_5'Flank|PCBP2_uc001sdk.3_5'Flank|PCBP2_uc010soh.1_Frame_Shift_Del_p.E157fs|PCBP2_uc009zmz.1_Frame_Shift_Del_p.E99fs|PCBP2_uc001sdg.1_RNA	p.E157fs	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			7	821_822	+			157_158			KH 2.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Del	DEL	ENST00000439930.3	37	c.471_472delGT	CCDS44901.1																																																																																				0.530	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		8	58	NA	NA	NA	NA	8	58	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119978433	119978435	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:119978433_119978435delCAT	ENST00000327554.2	+	14	2031_2033	c.1566_1568delCAT	c.(1564-1569)cacatc>cac	p.I524del	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	524										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCGAGAACACATCATCCATATG	0.527																																						uc001txe.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1564-1569)CACATC>CAC		coiled-coil domain containing 60																																				SO:0001651	inframe_deletion	160777							g.chr12:119978433_119978435delCAT	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1566_1568delCAT	12.37:g.119978436_119978438delCAT	ENSP00000333374:p.Ile524del					uc001txf.2_Intron	p.I524del	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	14	2031_2033	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		524						In_Frame_Del	DEL	ENST00000327554.2	37	c.1566_1568delCAT	CCDS9190.1																																																																																				0.527	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		17	155	NA	NA	NA	NA	17	155	---	---	---	---
SERP2	387923	broad.mit.edu	37	13	44953805	44953807	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:44953805_44953807delGAC	ENST00000379179.3	+	2	297_299	c.113_115delGAC	c.(112-117)ggacca>gca	p.38_39GP>A		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		TATCCTGTGGGACCATGGCTGTT	0.414																																						uc001uzj.2		NA																	0					0						c.(112-117)GGACCA>GCA		stress-associated endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	387923				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr13:44953805_44953807delGAC	BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 21"""	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.113_115delGAC	13.37:g.44953805_44953807delGAC	ENSP00000368477:p.Gly38_Pro39delinsAla					SERP2_uc001uzk.2_RNA	p.38_39GP>A	NM_001010897	NP_001010897	Q8N6R1	SERP2_HUMAN		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)	2	297_299	+		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	38_39			Helical; Anchor for type IV membrane protein; (Potential).			In_Frame_Del	DEL	ENST00000379179.3	37	c.113_115delGAC	CCDS31965.1																																																																																				0.414	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044736.1	NM_001010897		15	182	NA	NA	NA	NA	15	182	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091710	9091711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9091710_9091711insG	ENST00000397910.4	-	1	307_308	c.104_105insC	c.(103-105)acafs	p.T35fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	35	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGCTCCTGTCAGTCCTGA	0.525																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(103-105)ACAfs		mucin 16																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091710_9091711insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.105dupC	19.37:g.9091711_9091711dupG	ENSP00000381008:p.Thr35fs						p.T35fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	308_309	-			35			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.104_105insC	CCDS54212.1																																																																																				0.525	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	38	NA	NA	NA	NA	7	38	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36215919	36215919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:36215919delT	ENST00000222270.7	+	10	3459	c.3459delT	c.(3457-3459)tctfs	p.S1153fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.S1153fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1153					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTTTGCTTCTTTTCCCAATG	0.587																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3457-3459)TCTfs		myeloid/lymphoid or mixed-lineage leukemia 4							56.0	61.0	59.0					19																	36215919		2013	4170	6183	SO:0001589	frameshift_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36215919delT	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3459delT	19.37:g.36215919delT	ENSP00000222270:p.Ser1153fs						p.S1153fs	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		11	3459	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1153					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.3459delT	CCDS46055.1																																																																																				0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		17	93	NA	NA	NA	NA	17	93	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36218428	36218429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:36218428_36218429insA	ENST00000222270.7	+	16	4207_4208	c.4207_4208insA	c.(4207-4209)gagfs	p.E1403fs	KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.E1403fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1403					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCGCTGGCGAGAGGCCCTGAGC	0.678																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4207-4209)GAGfs		myeloid/lymphoid or mixed-lineage leukemia 4																																				SO:0001589	frameshift_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36218428_36218429insA	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4208dupA	19.37:g.36218429_36218429dupA	ENSP00000222270:p.Glu1403fs						p.E1403fs	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	4207_4208	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1403					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	c.4207_4208insA	CCDS46055.1																																																																																				0.678	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		15	142	NA	NA	NA	NA	15	142	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189916125	189916136	+	In_Frame_Del	DEL	CCATGAGAGCCA	CCATGAGAGCCA	-	rs372780282|rs201961021	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:189916125_189916136delCCATGAGAGCCA	ENST00000374866.3	-	42	3115_3126	c.2841_2852delTGGCTCTCATGG	c.(2839-2853)cctggctctcatggg>ccg	p.GSHG948del		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	948					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCACACGCCCATGAGAGCCAGGGTCCCCAC	0.608																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(2839-2853)CCTGGCTCTCATGGG>CCG		alpha 2 type V collagen preproprotein																																				SO:0001651	inframe_deletion	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189916125_189916136delCCATGAGAGCCA	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2841_2852delTGGCTCTCATGG	2.37:g.189916125_189916136delCCATGAGAGCCA	ENSP00000364000:p.Gly948_Gly951del					COL5A2_uc010frx.2_In_Frame_Del_p.GSHG524del	p.GSHG948del	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		42	3116_3127	-			948_951					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	In_Frame_Del	DEL	ENST00000374866.3	37	c.2841_2852delTGGCTCTCATGG	CCDS33350.1																																																																																				0.608	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		8	75	NA	NA	NA	NA	8	75	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41277959	41277960	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41277959_41277960delAG	ENST00000349496.5	+	12	2203_2204	c.1923_1924delAG	c.(1921-1926)acagagfs	p.E642fs	CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.E642fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.E635fs|CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.E642fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.E642fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	642					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTCCTCTGACAGAGTTACTTCA	0.465		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	1	Complex - deletion inframe(1)	p.E632_S681>SV(1)	kidney(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(1921-1926)ACAGAGfs		beta-catenin	Lithium(DB01356)																																			SO:0001589	frameshift_variant	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41277959_41277960delAG	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1923_1924delAG	3.37:g.41277961_41277962delAG	ENSP00000344456:p.Glu642fs					CTNNB1_uc003ckp.2_Frame_Shift_Del_p.T641fs|CTNNB1_uc003ckq.2_Frame_Shift_Del_p.T641fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.T641fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.T634fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.T569fs|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Frame_Shift_Del_p.T76fs	p.T641fs	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	13	2079_2080	+			641_642			ARM 12.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Frame_Shift_Del	DEL	ENST00000349496.5	37	c.1923_1924delAG	CCDS2694.1																																																																																				0.465	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		14	112	NA	NA	NA	NA	14	112	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149501528	149501528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:149501528delG	ENST00000261799.4	-	16	2728	c.2259delC	c.(2257-2259)cccfs	p.P753fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAGCATGGGCACATAGT	0.542			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2257-2259)CCCfs		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						319.0	236.0	264.0					5																	149501528		2203	4300	6503	SO:0001589	frameshift_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149501528delG	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2259delC	5.37:g.149501528delG	ENSP00000261799:p.Pro753fs					PDGFRB_uc010jhd.2_Frame_Shift_Del_p.P592fs	p.P753fs	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2728	-		all_hematologic(541;0.224)	753			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Frame_Shift_Del	DEL	ENST00000261799.4	37	c.2259delC	CCDS4303.1																																																																																				0.542	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		13	66	NA	NA	NA	NA	13	66	---	---	---	---
TBCC	6903	broad.mit.edu	37	6	42712835	42712836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:42712835_42712836insG	ENST00000372876.1	-	1	998_999	c.976_977insC	c.(976-978)cggfs	p.R326fs	TBCC_ENST00000244625.2_Frame_Shift_Ins_p.R326fs	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	326					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGCCATATCCCGGGCCAGCCAG	0.485																																						uc003osl.2		NA																	0					0						c.(976-978)CGGfs		beta-tubulin cofactor C																																				SO:0001589	frameshift_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42712835_42712836insG	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.977dupC	6.37:g.42712838_42712838dupG	ENSP00000361967:p.Arg326fs						p.R326fs	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	1049_1050	-	Colorectal(47;0.196)		326					Q53Y43|Q5T787	Frame_Shift_Ins	INS	ENST00000372876.1	37	c.976_977insC	CCDS4872.1																																																																																				0.485	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		9	60	NA	NA	NA	NA	9	60	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139402475	139402475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139402475delC	ENST00000277541.6	-	21	3517	c.3442delG	c.(3442-3444)gagfs	p.E1148fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1148	EGF-like 30. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGAGCACTCGTCCACCAGG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3442-3444)GAGfs		notch1 preproprotein							38.0	47.0	44.0					9																	139402475		2115	4227	6342	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402475delC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3442delG	9.37:g.139402475delC	ENSP00000277541:p.Glu1148fs	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Frame_Shift_Del_p.E378fs	p.E1148fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	21	3442	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1148			Extracellular (Potential).|EGF-like 30.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.3442delG	CCDS43905.1																																																																																				0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	91	NA	NA	NA	NA	9	91	---	---	---	---
