#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
MMEL1	79258	broad.mit.edu	37	1	2523433	2523433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:2523433C>A	ENST00000378412.3	-	22	2262	c.2101G>T	c.(2101-2103)Gac>Tac	p.D701Y	MMEL1_ENST00000288709.6_Missense_Mutation_p.D692Y|MMEL1_ENST00000502556.1_Missense_Mutation_p.D544Y			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	701						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTGCTGGTCCTTGCCACCC	0.617																																						uc001ajy.2		NA																	0					0						c.(2101-2103)GAC>TAC		membrane metallo-endopeptidase-like 1							78.0	68.0	71.0					1																	2523433		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2523433C>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2101G>T	1.37:g.2523433C>A	ENSP00000367668:p.Asp701Tyr					MMEL1_uc009vlg.1_RNA	p.D701Y	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	22	2315	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	701			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.2101G>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652393	0.67472	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90844	-2.74;-2.74;-2.74	3.86	3.86	0.44501	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.169147	0.50627	D	0.000104	D	0.94258	0.8156	M	0.72624	2.21	0.58432	D	0.999993	D	0.69078	0.997	D	0.72075	0.976	D	0.94957	0.8105	10	0.87932	D	0	-21.5013	14.5432	0.68011	0.0:1.0:0.0:0.0	.	701	Q495T6	MMEL1_HUMAN	Y	544;692;701;544	ENSP00000288709:D692Y;ENSP00000367668:D701Y;ENSP00000422492:D544Y	ENSP00000288709:D692Y	D	-	1	0	MMEL1	2513293	1.000000	0.71417	0.638000	0.29380	0.869000	0.49853	5.573000	0.67417	2.001000	0.58596	0.462000	0.41574	GAC		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		31	11	1	0	4.42e-11	5.19e-11	31	11				
PEX14	5195	broad.mit.edu	37	1	10690033	10690033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:10690033G>C	ENST00000356607.4	+	9	1203	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E311Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	375					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAACGAGAGTGAGCGGGACTA	0.706																																						uc001arn.2		NA																	0				breast(1)	1						c.(1123-1125)GAG>CAG		peroxisomal biogenesis factor 14							57.0	73.0	67.0					1																	10690033		2202	4298	6500	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10690033G>C	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1123G>C	1.37:g.10690033G>C	ENSP00000349016:p.Glu375Gln					PEX14_uc009vmv.2_Missense_Mutation_p.E311Q|PEX14_uc010oam.1_Missense_Mutation_p.E311Q|PEX14_uc010oan.1_Missense_Mutation_p.E332Q|PEX14_uc009vmw.2_Missense_Mutation_p.E311Q	p.E375Q	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	1144	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	375					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.1123G>C	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510634	0.64522	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.35048	1.42;1.33	4.36	4.36	0.52297	.	0.315209	0.34484	N	0.003938	T	0.31263	0.0791	L	0.27053	0.805	0.58432	D	0.999997	B;P	0.41366	0.235;0.747	B;B	0.42827	0.29;0.399	T	0.07102	-1.0790	10	0.33141	T	0.24	.	16.6973	0.85339	0.0:0.0:1.0:0.0	.	332;375	O75381-2;O75381	.;PEX14_HUMAN	Q	375;311	ENSP00000349016:E375Q;ENSP00000444877:E311Q	ENSP00000349016:E375Q	E	+	1	0	PEX14	10612620	1.000000	0.71417	0.813000	0.32504	0.641000	0.38312	8.730000	0.91510	2.249000	0.74217	0.462000	0.41574	GAG		0.706	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			5	19	0	0	0	0	5	19				
KCNQ4	9132	broad.mit.edu	37	1	41303381	41303381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:41303381G>A	ENST00000347132.5	+	13	1872	c.1790G>A	c.(1789-1791)cGg>cAg	p.R597Q	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R543Q|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	597	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	AGGAAGGCCCGGGAGAAGGGC	0.642																																						uc001cgh.1		NA																	0				central_nervous_system(1)	1						c.(1789-1791)CGG>CAG		potassium voltage-gated channel KQT-like protein							39.0	38.0	38.0					1																	41303381		2202	4300	6502	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41303381G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1790G>A	1.37:g.41303381G>A	ENSP00000262916:p.Arg597Gln					KCNQ4_uc001cgi.1_Missense_Mutation_p.R543Q	p.R597Q	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		13	1872	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	597			Cytoplasmic.|A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1790G>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110402	0.94292	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99716	-6.51;-6.51	4.69	4.69	0.59074	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.253409	0.31697	U	0.007216	D	0.99462	0.9809	L	0.53249	1.67	0.58432	D	0.99999	D;D	0.89917	0.993;1.0	P;D	0.70227	0.852;0.968	D	0.98492	1.0610	10	0.39692	T	0.17	-16.2402	15.1031	0.72299	0.0:0.0:1.0:0.0	.	543;597	P56696-2;P56696	.;KCNQ4_HUMAN	Q	597;543	ENSP00000262916:R597Q;ENSP00000423756:R543Q	ENSP00000262916:R597Q	R	+	2	0	KCNQ4	41075968	1.000000	0.71417	0.854000	0.33618	0.921000	0.55340	9.795000	0.99099	2.170000	0.68504	0.462000	0.41574	CGG		0.642	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		8	9	0	0	0	0	8	9				
GBP6	163351	broad.mit.edu	37	1	89834114	89834114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:89834114G>T	ENST00000370456.4	+	2	97	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	2	GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGTTGCCATGGAATCTGGACC	0.443																																						uc001dnf.2		NA																	0				ovary(2)	2						c.(4-6)GAA>TAA		guanylate binding protein family, member 6							90.0	88.0	89.0					1																	89834114		2203	4300	6503	SO:0001587	stop_gained	163351						GTP binding|GTPase activity	g.chr1:89834114G>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.4G>T	1.37:g.89834114G>T	ENSP00000359485:p.Glu2*					GBP6_uc010ost.1_Intron	p.E2*	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	2	278	+		Lung NSC(277;0.0908)	2					A2RRM3|Q6ZN86|Q7Z3F0	Nonsense_Mutation	SNP	ENST00000370456.4	37	c.4G>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428777	0.83667	.	.	ENSG00000183347	ENST00000544311;ENST00000370456	.	.	.	4.46	2.47	0.30058	.	0.376102	0.22806	N	0.055412	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.9978	7.7259	0.28759	0.0955:0.1639:0.7406:0.0	.	.	.	.	X	2	.	ENSP00000359485:E2X	E	+	1	0	GBP6	89606702	0.258000	0.24033	0.988000	0.46212	0.128000	0.20619	0.120000	0.15647	0.871000	0.35750	0.491000	0.48974	GAA		0.443	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		15	29	1	0	3.46e-05	3.81e-05	15	29				
DENND4B	9909	broad.mit.edu	37	1	153907346	153907346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:153907346C>T	ENST00000361217.4	-	18	3081	c.2663G>A	c.(2662-2664)cGc>cAc	p.R888H	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGCTGGCGGAACTGAGC	0.627																																						uc001fdd.1		NA																	0				ovary(1)	1						c.(2662-2664)CGC>CAC		DENN/MADD domain containing 4B							68.0	80.0	76.0					1																	153907346		2195	4287	6482	SO:0001583	missense	9909							g.chr1:153907346C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2663G>A	1.37:g.153907346C>T	ENSP00000354597:p.Arg888His					uc001fdc.1_RNA	p.R888H	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3064	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		888			Gln-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2663G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346953	0.95807	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.11277	2.79;2.82	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.04216	-1.0968	10	0.72032	D	0.01	-14.9862	17.232	0.86987	0.0:1.0:0.0:0.0	.	888	O75064	DEN4B_HUMAN	H	888;899	ENSP00000354597:R888H;ENSP00000357635:R899H	ENSP00000354597:R888H	R	-	2	0	DENND4B	152173970	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.526000	0.45607	2.599000	0.87857	0.462000	0.41574	CGC		0.627	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		20	117	0	0	0	0	20	117				
ANGEL2	90806	broad.mit.edu	37	1	213186481	213186481	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:213186481C>G	ENST00000366962.3	-	2	493	c.339G>C	c.(337-339)atG>atC	p.M113I	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	113										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTCAGCGTTCATGACGTAAC	0.408																																						uc001hjz.2		NA																	0					0						c.(337-339)ATG>ATC		LOC90806 protein							136.0	133.0	134.0					1																	213186481		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213186481C>G	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.339G>C	1.37:g.213186481C>G	ENSP00000355929:p.Met113Ile					ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Missense_Mutation_p.M91I	p.M113I	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	494	-			113					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.339G>C	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997396	0.54147	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.28255	1.62	5.45	5.45	0.79879	.	0.229368	0.46758	N	0.000271	T	0.27134	0.0665	L	0.32530	0.975	0.80722	D	1	P;B	0.35077	0.483;0.104	B;B	0.30943	0.122;0.03	T	0.04203	-1.0969	10	0.49607	T	0.09	-19.7676	19.6453	0.95775	0.0:1.0:0.0:0.0	.	91;113	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	I	113;91	ENSP00000355929:M113I	ENSP00000309755:M91I	M	-	3	0	ANGEL2	211253104	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.975000	0.63777	2.700000	0.92200	0.563000	0.77884	ATG		0.408	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		17	73	0	0	0	0	17	73				
PGBD2	267002	broad.mit.edu	37	1	249210815	249210815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:249210815G>A	ENST00000329291.5	+	3	179	c.32G>A	c.(31-33)gGg>gAg	p.G11E	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.G8E|PGBD2_ENST00000462488.1_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	11										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCATTGCTGGGAGAGGTATC	0.463																																						uc001ifh.2		NA																	0				ovary(1)	1						c.(31-33)GGG>GAG		hypothetical protein LOC267002 isoform a							70.0	68.0	69.0					1																	249210815		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249210815G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.32G>A	1.37:g.249210815G>A	ENSP00000331643:p.Gly11Glu					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.G8E	p.G11E	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	179	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	11					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.32G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170404	0.21621	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.13901	2.55;2.56	4.08	3.12	0.35913	.	1.058500	0.07562	N	0.917254	T	0.11793	0.0287	L	0.36672	1.1	0.09310	N	1	B;B	0.22414	0.069;0.018	B;B	0.20767	0.031;0.007	T	0.33214	-0.9877	10	0.30078	T	0.28	-0.5257	7.1272	0.25479	0.1319:0.0:0.8681:0.0	.	8;11	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	E	11;8	ENSP00000331643:G11E;ENSP00000439950:G8E	ENSP00000331643:G11E	G	+	2	0	PGBD2	247177438	0.024000	0.19004	0.001000	0.08648	0.002000	0.02628	2.910000	0.48766	0.998000	0.38996	0.655000	0.94253	GGG		0.463	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			12	17	0	0	0	0	12	17				
RET	5979	broad.mit.edu	37	10	43601966	43601966	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:43601966A>T	ENST00000355710.3	+	5	1242	c.1010A>T	c.(1009-1011)gAg>gTg	p.E337V	RET_ENST00000340058.5_Missense_Mutation_p.E337V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	337					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGGCCCAACGAGACCTCGGTC	0.652		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1009-1011)GAG>GTG		ret proto-oncogene isoform a	Sunitinib(DB01268)						55.0	49.0	51.0					10																	43601966		2202	4300	6502	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43601966A>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1010A>T	10.37:g.43601966A>T	ENSP00000347942:p.Glu337Val					RET_uc001jak.1_Missense_Mutation_p.E337V|RET_uc010qez.1_Missense_Mutation_p.E83V	p.E337V	NM_020975	NP_066124	P07949	RET_HUMAN			5	1200	+		Ovarian(717;0.0423)	337			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1010A>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211288	0.79240	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80909	-1.31;-1.43	5.32	5.32	0.75619	.	0.093174	0.64402	D	0.000001	D	0.87557	0.6207	M	0.63843	1.955	0.50313	D	0.999869	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.974;0.999	D	0.88419	0.3027	10	0.66056	D	0.02	.	13.2682	0.60146	1.0:0.0:0.0:0.0	.	83;337;337	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	337	ENSP00000347942:E337V;ENSP00000344798:E337V	ENSP00000344798:E337V	E	+	2	0	RET	42921972	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.167000	0.58209	2.234000	0.73211	0.460000	0.39030	GAG		0.652	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	11	0	0	0	0	6	11				
FAM21C	253725	broad.mit.edu	37	10	46222872	46222872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:46222872G>C	ENST00000336378.4	+	2	129	c.11G>C	c.(10-12)cGg>cCg	p.R4P	FAM21C_ENST00000359860.4_Missense_Mutation_p.R3P|FAM21C_ENST00000537517.1_Missense_Mutation_p.R4P|FAM21FP_ENST00000608637.1_RNA|FAM21C_ENST00000374362.2_Missense_Mutation_p.R4P|FAM21C_ENST00000540872.1_Missense_Mutation_p.R4P	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	4					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGATGAACCGGACGACCCCC	0.721																																						uc001jcu.2		NA																	0				ovary(1)	1						c.(10-12)CGG>CCG		hypothetical protein LOC253725							18.0	23.0	21.0					10																	46222872		1875	4096	5971	SO:0001583	missense	253725							g.chr10:46222872G>C		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.11G>C	10.37:g.46222872G>C	ENSP00000337541:p.Arg4Pro					FAM21C_uc001jcs.1_Missense_Mutation_p.R4P|FAM21C_uc001jct.2_Missense_Mutation_p.R4P|FAM21C_uc010qfi.1_Missense_Mutation_p.R4P	p.R4P	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			2	110	+			4					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.11G>C		.	.	.	.	.	.	.	.	.	.	G	15.93	2.977456	0.53720	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848	.	.	.	4.33	2.47	0.30058	.	1.311970	0.05140	N	0.494105	T	0.51753	0.1693	L	0.55481	1.735	0.22620	N	0.99892	P;B;B;D	0.53885	0.946;0.148;0.148;0.963	P;B;B;P	0.52909	0.713;0.075;0.075;0.699	T	0.34079	-0.9843	9	0.72032	D	0.01	0.0346	8.2175	0.31521	0.1981:0.0:0.8019:0.0	.	4;4;4;4	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	P	4;4;4;4;4;3;4	.	ENSP00000337541:R4P	R	+	2	0	FAM21C	45542878	0.987000	0.35691	0.792000	0.32020	0.319000	0.28217	0.613000	0.24299	0.457000	0.26962	-0.140000	0.14226	CGG		0.721	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	13	0	0	0	0	3	13				
ARID5B	84159	broad.mit.edu	37	10	63851485	63851485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:63851485G>A	ENST00000279873.7	+	10	2673	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I	ARID5B_ENST00000309334.5_Missense_Mutation_p.V512I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	755					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTCAGCACGTCCAGAGTTT	0.512																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(2263-2265)GTC>ATC		AT rich interactive domain 5B (MRF1-like)							102.0	101.0	101.0					10																	63851485		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851485G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2263G>A	10.37:g.63851485G>A	ENSP00000279873:p.Val755Ile						p.V755I	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	2289	+	Prostate(12;0.016)|all_hematologic(501;0.215)		755					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.2263G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790031	0.90367	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.51574	0.72;0.7	5.87	5.87	0.94306	.	0.390200	0.27572	N	0.018762	T	0.63046	0.2478	M	0.63428	1.95	0.53688	D	0.999977	D	0.71674	0.998	P	0.55011	0.766	T	0.64262	-0.6449	10	0.72032	D	0.01	-20.7045	20.2033	0.98269	0.0:0.0:1.0:0.0	.	755	Q14865	ARI5B_HUMAN	I	755;512	ENSP00000279873:V755I;ENSP00000308862:V512I	ENSP00000279873:V755I	V	+	1	0	ARID5B	63521491	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.230000	0.95299	2.779000	0.95612	0.655000	0.94253	GTC		0.512	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		5	90	0	0	0	0	5	90				
CFAP70	118491	broad.mit.edu	37	10	75051479	75051480	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:75051479_75051480CC>TT	ENST00000310715.3	-	19	2268_2269	c.2148_2149GG>AA	c.(2146-2151)ttGGag>ttAAag	p.E717K	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.E186K|TTC18_ENST00000401621.2_Missense_Mutation_p.E717K|TTC18_ENST00000394865.1_Missense_Mutation_p.E717K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		717						extracellular vesicular exosome (GO:0070062)		p.E717K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCATAGTTCTCCAACAGGACAG	0.406																																						uc009xrc.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|central_nervous_system(1)	3						c.(2146-2151)TTGGAG>TTAAAG		tetratricopeptide repeat domain 18																																				SO:0001583	missense	118491						binding	g.chr10:75051479_75051480CC>TT																												ENST00000310715.3:c.2148_2149delinsTT	10.37:g.75051479_75051480delinsTT	ENSP00000310829:p.Glu717Lys					TTC18_uc001jty.2_Missense_Mutation_p.E717K|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Missense_Mutation_p.E98K	p.E717K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			19	2269_2270	-	Prostate(51;0.0119)		717			TPR 3.		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	DNP	ENST00000310715.3	37	c.2148_2149GG>AA	CCDS7324.3																																																																																				0.406	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	20	0	0	0	0	4	20				
CNNM1	26507	broad.mit.edu	37	10	101117299	101117299	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101117299T>A	ENST00000356713.4	+	2	1893	c.1604T>A	c.(1603-1605)gTg>gAg	p.V535E	CNNM1_ENST00000446890.1_Missense_Mutation_p.V464E|CNNM1_ENST00000370534.4_Missense_Mutation_p.V170E|CNNM1_ENST00000370528.3_Missense_Mutation_p.V464E	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	535	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTCCAGCGGGTGAATAATGAG	0.433																																						uc001kpp.3		NA																	0					0						c.(1603-1605)GTG>GAG		cyclin M1							101.0	90.0	94.0					10																	101117299		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101117299T>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1604T>A	10.37:g.101117299T>A	ENSP00000349147:p.Val535Glu					CNNM1_uc009xwe.2_Missense_Mutation_p.V535E|CNNM1_uc010qpi.1_Missense_Mutation_p.V535E|CNNM1_uc009xwf.2_Missense_Mutation_p.V535E|CNNM1_uc009xwg.2_5'Flank	p.V535E	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	2	1893	+		Colorectal(252;0.234)	535			CBS 2.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1604T>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253538	0.80135	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.76	5.76	0.90799	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	L	0.49571	1.57	0.80722	D	1	D;D;D;P	0.89917	0.978;1.0;1.0;0.588	P;D;D;P	0.97110	0.883;1.0;0.998;0.57	D	0.97962	1.0338	10	0.62326	D	0.03	-2.3421	16.075	0.80962	0.0:0.0:0.0:1.0	.	170;535;170;535	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	E	535;464;464;170	ENSP00000349147:V535E;ENSP00000406492:V464E;ENSP00000359559:V464E;ENSP00000359565:V170E	ENSP00000349147:V535E	V	+	2	0	CNNM1	101107289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.195000	0.70347	0.533000	0.62120	GTG		0.433	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		6	13	0	0	0	0	6	13				
DNMBP	23268	broad.mit.edu	37	10	101639864	101639864	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101639864G>C	ENST00000324109.4	-	16	4343	c.4252C>G	c.(4252-4254)Ctc>Gtc	p.L1418V	DNMBP_ENST00000540316.1_Missense_Mutation_p.L354V|DNMBP_ENST00000342239.3_Missense_Mutation_p.L1442V|DNMBP_ENST00000543621.1_Missense_Mutation_p.L664V	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1418	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATGCACTGAGAGTTCCTTGG	0.537																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(4252-4254)CTC>GTC		dynamin binding protein							197.0	194.0	195.0					10																	101639864		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639864G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4252C>G	10.37:g.101639864G>C	ENSP00000315659:p.Leu1418Val					DNMBP_uc010qpl.1_Missense_Mutation_p.L354V|DNMBP_uc001kqg.2_Missense_Mutation_p.L706V|DNMBP_uc001kqh.2_Missense_Mutation_p.L1050V	p.L1418V	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4344	-		Colorectal(252;0.234)	1418			Ser-rich.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4252C>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203861	0.09704	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.34275	2.8;2.75;2.42;1.37	5.77	-0.0461	0.13848	.	1.020440	0.07850	N	0.964505	T	0.22205	0.0535	N	0.20986	0.625	0.09310	N	1	B;B;B	0.17667	0.013;0.023;0.013	B;B;B	0.12156	0.003;0.007;0.003	T	0.29549	-1.0008	10	0.11182	T	0.66	-0.467	9.7214	0.40306	0.0645:0.348:0.502:0.0855	.	1418;664;1442	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	V	1442;1418;664;664;354	ENSP00000344914:L1442V;ENSP00000315659:L1418V;ENSP00000443657:L664V;ENSP00000443573:L354V	ENSP00000315659:L1418V	L	-	1	0	DNMBP	101629854	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	0.538000	0.23160	0.054000	0.16065	0.561000	0.74099	CTC		0.537	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		16	78	0	0	0	0	16	78				
DNMBP	23268	broad.mit.edu	37	10	101715220	101715220	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715220C>G	ENST00000324109.4	-	4	2102	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.E671Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	671					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTAAGGTCTCACAGGTAGGA	0.597																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(2011-2013)GAG>CAG		dynamin binding protein							62.0	52.0	55.0					10																	101715220		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715220C>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2011G>C	10.37:g.101715220C>G	ENSP00000315659:p.Glu671Gln					NCRNA00093_uc001kqk.1_Intron	p.E671Q	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	2103	-		Colorectal(252;0.234)	671					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2011G>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375297	0.24857	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12774	2.69;2.65	5.8	2.98	0.34508	.	0.591338	0.15078	N	0.281842	T	0.12092	0.0294	L	0.60455	1.87	0.22896	N	0.998594	B	0.32245	0.361	B	0.27500	0.08	T	0.22173	-1.0224	10	0.20046	T	0.44	-11.4409	7.86	0.29504	0.0:0.6502:0.0:0.3498	.	671	Q6XZF7	DNMBP_HUMAN	Q	671	ENSP00000344914:E671Q;ENSP00000315659:E671Q	ENSP00000315659:E671Q	E	-	1	0	DNMBP	101705210	0.004000	0.15560	0.418000	0.26571	0.425000	0.31504	1.146000	0.31589	0.816000	0.34421	0.491000	0.48974	GAG		0.597	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		9	32	0	0	0	0	9	32				
DNMBP	23268	broad.mit.edu	37	10	101715433	101715433	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715433C>G	ENST00000324109.4	-	4	1889	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.E600Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	600					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCGGCAGCTCCTGCTCGGTG	0.502																																						uc001kqj.2		NA																	0				ovary(5)|skin(1)	6						c.(1798-1800)GAG>CAG		dynamin binding protein							55.0	52.0	53.0					10																	101715433		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715433C>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1798G>C	10.37:g.101715433C>G	ENSP00000315659:p.Glu600Gln					NCRNA00093_uc001kqk.1_RNA	p.E600Q	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1890	-		Colorectal(252;0.234)	600					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1798G>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122457	0.20877	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12774	2.7;2.65	6.04	1.99	0.26369	.	0.598474	0.14875	N	0.293309	T	0.13372	0.0324	M	0.62723	1.935	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.25916	-1.0118	10	0.40728	T	0.16	-4.6519	5.0077	0.14297	0.0:0.446:0.2699:0.2842	.	600	Q6XZF7	DNMBP_HUMAN	Q	600	ENSP00000344914:E600Q;ENSP00000315659:E600Q	ENSP00000315659:E600Q	E	-	1	0	DNMBP	101705423	0.000000	0.05858	0.283000	0.24790	0.582000	0.36321	0.422000	0.21296	0.107000	0.17824	0.561000	0.74099	GAG		0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		9	36	0	0	0	0	9	36				
TIAL1	7073	broad.mit.edu	37	10	121339445	121339445	+	Splice_Site	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:121339445A>T	ENST00000436547.2	-	6	492		c.e6+1		TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369092.4_Splice_Site|TIAL1_ENST00000369093.2_Splice_Site	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGAAGAACGTACCAGTTTGTT	0.313																																						uc001lei.1		NA																	0				ovary(1)	1						c.e6+1		TIA-1 related protein isoform 1							55.0	58.0	57.0					10																	121339445		2203	4300	6503	SO:0001630	splice_region_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121339445A>T	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.447+1T>A	10.37:g.121339445A>T						TIAL1_uc001leh.1_Splice_Site_p.L127_splice|TIAL1_uc001lej.1_Splice_Site_p.L166_splice|TIAL1_uc001lek.1_Splice_Site_p.L26_splice|TIAL1_uc009xzi.1_Splice_Site_p.L18_splice|TIAL1_uc010qtb.1_Splice_Site_p.L26_splice	p.L149_splice	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	6	1011	-		Lung NSC(174;0.094)|all_lung(145;0.123)						A8K3T0|A8K4L9	Splice_Site	SNP	ENST00000436547.2	37	c.447_splice	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431233	0.83776	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547;ENST00000412524	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6365	0.76958	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIAL1	121329435	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.215000	0.95146	2.091000	0.63221	0.460000	0.39030	.		0.313	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252	Intron	4	6	0	0	0	0	4	6				
MICALCL	84953	broad.mit.edu	37	11	12379876	12379876	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:12379876G>A	ENST00000256186.2	+	9	2229	c.1938G>A	c.(1936-1938)gaG>gaA	p.E646E		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473																																						uc001mkg.1		NA																	0				skin(1)	1						c.(1936-1938)GAG>GAA		MICAL C-terminal like							161.0	152.0	155.0					11																	12379876		1904	4128	6032	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12379876G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1938G>A	11.37:g.12379876G>A							p.E646E	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	9	2229	+			646			Potential.		Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1938G>A	CCDS41620.1																																																																																				0.473	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		34	72	0	0	0	0	34	72				
LRP4	4038	broad.mit.edu	37	11	46911618	46911618	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:46911618C>T	ENST00000378623.1	-	15	2211	c.1969G>A	c.(1969-1971)Gac>Aac	p.D657N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	657					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGCCAGTCTGTCCAGTAC	0.517											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1969-1971)GAC>AAC		low density lipoprotein receptor-related protein							243.0	213.0	223.0					11																	46911618		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911618C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1969G>A	11.37:g.46911618C>T	ENSP00000367888:p.Asp657Asn		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.D657N	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	15	2115	-			657			Extracellular (Potential).|LDL-receptor class B 5.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1969G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462122	0.96240	.	.	ENSG00000134569	ENST00000378623	D	0.92149	-2.98	5.93	5.93	0.95920	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96776	0.9572	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	657	O75096	LRP4_HUMAN	N	657	ENSP00000367888:D657N	ENSP00000367888:D657N	D	-	1	0	LRP4	46868194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GAC		0.517	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		18	89	0	0	0	0	18	89				
OR4C12	283093	broad.mit.edu	37	11	50003589	50003589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:50003589C>A	ENST00000335238.4	-	1	482	c.449G>T	c.(448-450)gGa>gTa	p.G150V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGAAGAAATCCTCCCACCCA	0.498																																						uc010ria.1		NA																	0				ovary(2)|skin(1)	3						c.(448-450)GGA>GTA		olfactory receptor, family 4, subfamily C,							148.0	154.0	152.0					11																	50003589		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003589C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.449G>T	11.37:g.50003589C>A	ENSP00000334418:p.Gly150Val						p.G150V	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	449	-			150			Helical; Name=4; (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.449G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.633419	0.29068	.	.	ENSG00000221954	ENST00000335238	T	0.39056	1.1	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000904	T	0.60983	0.2311	M	0.86028	2.79	0.45183	D	0.99819	D	0.54207	0.965	P	0.58013	0.831	T	0.69439	-0.5145	10	0.87932	D	0	.	11.934	0.52864	0.0:1.0:0.0:0.0	.	150	Q96R67	OR4CC_HUMAN	V	150	ENSP00000334418:G150V	ENSP00000334418:G150V	G	-	2	0	OR4C12	49960165	0.025000	0.19082	0.980000	0.43619	0.190000	0.23558	1.578000	0.36525	1.698000	0.51180	0.398000	0.26397	GGA		0.498	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		62	100	1	0	5.53e-18	6.56e-18	62	100				
ADRBK1	156	broad.mit.edu	37	11	67044773	67044773	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:67044773G>A	ENST00000308595.5	+	2	434	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ADRBK1_ENST00000526285.1_Silent_p.E48E	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	48	N-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTACCTGGAGGACCGGGGCG	0.617																																						uc009yrn.1		NA																	0				large_intestine(1)	1						c.(142-144)GAG>GAA		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						100.0	95.0	97.0					11																	67044773		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67044773G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.144G>A	11.37:g.67044773G>A						ADRBK1_uc009yrm.1_Silent_p.E48E	p.E48E	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		2	410	+			48			N-terminal.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.144G>A	CCDS8156.1																																																																																				0.617	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		4	162	0	0	0	0	4	162				
DLG2	1740	broad.mit.edu	37	11	83641505	83641505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:83641505G>T	ENST00000532653.1	-	10	1349	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	DLG2_ENST00000280241.8_Missense_Mutation_p.S388R|DLG2_ENST00000398309.2_Missense_Mutation_p.S349R|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.S288R|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000524982.1_Missense_Mutation_p.S349R|DLG2_ENST00000398301.2_Missense_Mutation_p.S388R|DLG2_ENST00000543673.1_Missense_Mutation_p.S454R|DLG2_ENST00000537455.1_Missense_Mutation_p.S103R|DLG2_ENST00000376104.2_Missense_Mutation_p.S454R|DLG2_ENST00000531015.1_Missense_Mutation_p.S316R			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCACAGTGCTGTAAACAG	0.483																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1045-1047)AGC>AGA		chapsyn-110 isoform 2							143.0	145.0	144.0					11																	83641505		1971	4187	6158	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83641505G>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1047C>A	11.37:g.83641505G>T	ENSP00000435849:p.Ser349Arg					DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.S316R|DLG2_uc010rsz.1_Missense_Mutation_p.S349R|DLG2_uc010rta.1_Missense_Mutation_p.S349R|DLG2_uc001pak.2_Missense_Mutation_p.S454R|DLG2_uc010rtb.1_Missense_Mutation_p.S316R|DLG2_uc001pal.1_Missense_Mutation_p.S349R|DLG2_uc001pam.1_Missense_Mutation_p.S388R	p.S349R	NM_001364	NP_001355	Q15700	DLG2_HUMAN			10	1350	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	349					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1047C>A		.	.	.	.	.	.	.	.	.	.	G	20.1	3.934588	0.73442	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.20200	2.64;2.64;2.64;2.6;2.56;2.39;2.64;2.6;2.45;2.09	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000004	T	0.33381	0.0861	N	0.19112	0.55	0.80722	D	1	D;D;D;D;P;D;D	0.64830	0.99;0.99;0.99;0.99;0.543;0.994;0.99	D;D;D;D;B;D;D	0.74348	0.962;0.962;0.962;0.962;0.096;0.983;0.962	T	0.04191	-1.0970	9	.	.	.	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	316;349;349;288;388;454;349	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	R	349;454;454;388;288;103;349;349;454;316;388	ENSP00000381355:S349R;ENSP00000365272:S454R;ENSP00000441994:S454R;ENSP00000280241:S388R;ENSP00000381353:S288R;ENSP00000443248:S103R;ENSP00000432894:S349R;ENSP00000435849:S349R;ENSP00000433848:S316R;ENSP00000381346:S388R	.	S	-	3	2	DLG2	83319153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.291000	0.96070	2.730000	0.93505	0.655000	0.94253	AGC		0.483	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		20	8	1	0	1.26e-06	1.42e-06	20	8				
MTNR1B	4544	broad.mit.edu	37	11	92714995	92714995	+	Silent	SNP	G	G	A	rs200681545	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:92714995G>A	ENST00000257068.2	+	2	612	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	202					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGTACACGGCGGCAGTGGTGG	0.607													G|||	12	0.00239617	0.0	0.0	5008	,	,		17722	0.0		0.002	False		,,,				2504	0.0102					uc001pdk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(604-606)GCG>GCA		melatonin receptor 1B	Ramelteon(DB00980)	G		0,4402		0,0,2201	62.0	59.0	60.0		606	-8.4	0.0	11		60	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MTNR1B	NM_005959.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		202/363	92714995	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714995G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.606G>A	11.37:g.92714995G>A							p.A202A	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	709	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	202			Helical; Name=5; (Potential).			Silent	SNP	ENST00000257068.2	37	c.606G>A	CCDS8290.1																																																																																				0.607	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			21	7	0	0	0	0	21	7				
PRDM10	56980	broad.mit.edu	37	11	129794994	129794994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:129794994C>A	ENST00000360871.3	-	12	1892	c.1661G>T	c.(1660-1662)tGc>tTc	p.C554F	PRDM10_ENST00000423662.2_Missense_Mutation_p.C472F|PRDM10_ENST00000304538.6_Missense_Mutation_p.C468F|PRDM10_ENST00000526082.1_Missense_Mutation_p.C472F|PRDM10_ENST00000358825.5_Missense_Mutation_p.C558F|PRDM10_ENST00000528746.1_Missense_Mutation_p.C528F	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTCAGTGGGCAGTTCCCCTC	0.527																																						uc001qfm.2		NA																	0				pancreas(1)	1						c.(1672-1674)TGC>TTC		PR domain containing 10 isoform 1							187.0	184.0	185.0					11																	129794994		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129794994C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1661G>T	11.37:g.129794994C>A	ENSP00000354118:p.Cys554Phe					PRDM10_uc001qfj.2_Missense_Mutation_p.C472F|PRDM10_uc001qfk.2_Missense_Mutation_p.C468F|PRDM10_uc001qfl.2_Missense_Mutation_p.C472F|PRDM10_uc010sbx.1_Missense_Mutation_p.C468F|PRDM10_uc001qfn.2_Missense_Mutation_p.C554F	p.C558F	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	13	1905	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	558					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1673G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231818	0.39399	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.41	5.41	0.78517	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.050147	0.85682	D	0.000000	T	0.06142	0.0159	N	0.17723	0.515	0.50039	D	0.999846	P;P;P;P;B;P	0.38078	0.483;0.617;0.483;0.617;0.387;0.617	B;B;B;B;B;B	0.33196	0.076;0.159;0.076;0.159;0.12;0.159	T	0.31779	-0.9931	10	0.59425	D	0.04	-26.9722	12.8554	0.57882	0.0:0.9254:0.0:0.0746	.	468;554;558;472;468;472	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	F	558;468;554;472;528;472;271	ENSP00000351686:C558F;ENSP00000302669:C468F;ENSP00000354118:C554F;ENSP00000398431:C472F;ENSP00000431262:C528F;ENSP00000432237:C472F;ENSP00000435940:C271F	ENSP00000302669:C468F	C	-	2	0	PRDM10	129300204	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.497000	0.60367	2.687000	0.91594	0.655000	0.94253	TGC		0.527	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		40	25	1	0	3.09e-21	3.71e-21	40	25				
CHD4	1108	broad.mit.edu	37	12	6691342	6691342	+	Silent	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:6691342G>C	ENST00000357008.2	-	30	4639	c.4476C>G	c.(4474-4476)gtC>gtG	p.V1492V	SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.V1485V|CHD4_ENST00000544484.1_Silent_p.V1517V|CHD4_ENST00000309577.6_Silent_p.V1520V|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TTCTAGTAAGGACATGCTGGC	0.542																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(4474-4476)GTC>GTG		chromodomain helicase DNA binding protein 4							87.0	77.0	81.0					12																	6691342		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6691342G>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4476C>G	12.37:g.6691342G>C						CHD4_uc001qpn.2_Silent_p.V1485V|CHD4_uc001qpp.2_Silent_p.V1517V|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.V1492V	NM_001273	NP_001264	Q14839	CHD4_HUMAN			30	4640	-			1492					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.4476C>G	CCDS8552.1																																																																																				0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		8	55	0	0	0	0	8	55				
RERG	85004	broad.mit.edu	37	12	15262053	15262053	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:15262053G>A	ENST00000256953.2	-	5	927	c.591C>T	c.(589-591)atC>atT	p.I197I	RERG_ENST00000546331.1_Silent_p.I178I|RERG_ENST00000536465.1_Silent_p.I197I|RERG_ENST00000538313.1_Silent_p.I197I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	197					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I197I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTAACTACTGATTTTGGTGA	0.493																																						uc001rcs.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	lung(1)	1						c.(589-591)ATC>ATT		RAS-like, estrogen-regulated, growth inhibitor							142.0	131.0	135.0					12																	15262053		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262053G>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.591C>T	12.37:g.15262053G>A						RERG_uc001rct.2_Silent_p.I197I|RERG_uc010shu.1_Silent_p.I178I	p.I197I	NM_032918	NP_116307	Q96A58	RERG_HUMAN			4	731	-			197					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.591C>T	CCDS8673.1																																																																																				0.493	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		16	220	0	0	0	0	16	220				
PAN2	9924	broad.mit.edu	37	12	56721836	56721836	+	Silent	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:56721836T>A	ENST00000425394.2	-	5	970	c.594A>T	c.(592-594)ggA>ggT	p.G198G	PAN2_ENST00000440411.3_Silent_p.G198G|PAN2_ENST00000257931.5_Silent_p.G198G|PAN2_ENST00000548043.1_Silent_p.G198G	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGATGGTGACTCCAGGCGTCT	0.517																																						uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(592-594)GGA>GGT		PAN2 polyA specific ribonuclease subunit homolog							99.0	96.0	97.0					12																	56721836		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56721836T>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.594A>T	12.37:g.56721836T>A						PAN2_uc001skz.2_Silent_p.G198G|PAN2_uc001sky.2_Silent_p.G198G	p.G198G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			5	967	-			198						Silent	SNP	ENST00000425394.2	37	c.594A>T	CCDS44922.1																																																																																				0.517	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		12	19	0	0	0	0	12	19				
NAV3	89795	broad.mit.edu	37	12	78562566	78562566	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:78562566T>C	ENST00000397909.2	+	24	5074	c.4901T>C	c.(4900-4902)aTt>aCt	p.I1634T	NAV3_ENST00000228327.6_Missense_Mutation_p.I1634T|NAV3_ENST00000536525.2_Missense_Mutation_p.I1634T|NAV3_ENST00000266692.7_Missense_Mutation_p.I1457T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1634						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGAAACCATTGAAATGCTG	0.413										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4900-4902)ATT>ACT		neuron navigator 3							77.0	78.0	78.0					12																	78562566		1814	4078	5892	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562566T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4901T>C	12.37:g.78562566T>C	ENSP00000381007:p.Ile1634Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.I1634T|NAV3_uc010sub.1_Missense_Mutation_p.I1120T|NAV3_uc009zsf.2_Missense_Mutation_p.I465T	p.I1634T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			24	5074	+			1634			Potential.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4901T>C		.	.	.	.	.	.	.	.	.	.	T	23.0	4.361262	0.82353	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	5.26	5.26	0.73747	.	0.000000	0.40385	U	0.001119	D	0.96873	0.8979	M	0.75085	2.285	0.80722	D	1	P;D;P;D	0.76494	0.754;0.989;0.856;0.999	P;D;B;D	0.80764	0.493;0.985;0.26;0.994	D	0.97515	1.0069	10	0.87932	D	0	-9.4096	15.4718	0.75446	0.0:0.0:0.0:1.0	.	1634;1457;1634;1634	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	T	1634;1634;1634;1457;255;263	ENSP00000446132:I1634T;ENSP00000381007:I1634T;ENSP00000228327:I1634T;ENSP00000266692:I1457T;ENSP00000448303:I263T	ENSP00000228327:I1634T	I	+	2	0	NAV3	77086697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.130000	0.65690	0.528000	0.53228	ATT		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	41	0	0	0	0	7	41				
ACSS3	79611	broad.mit.edu	37	12	81503433	81503433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81503433C>T	ENST00000548058.1	+	2	1316	c.406C>T	c.(406-408)Cct>Tct	p.P136S	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.P135S			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	136						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTATGACAGTCCTGTTACAAA	0.318																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(406-408)CCT>TCT		acyl-CoA synthetase short-chain family member 3							101.0	101.0	101.0					12																	81503433		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81503433C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.406C>T	12.37:g.81503433C>T	ENSP00000449535:p.Pro136Ser					ACSS3_uc001szm.1_Missense_Mutation_p.P135S	p.P136S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			2	497	+			136					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.406C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798117	0.90538	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.47869	0.83;2.91;2.91	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70777	-0.4780	10	0.87932	D	0	-25.3131	19.4308	0.94765	0.0:1.0:0.0:0.0	.	136	Q9H6R3	ACSS3_HUMAN	S	28;136;135	ENSP00000447748:P28S;ENSP00000449535:P136S;ENSP00000261206:P135S	ENSP00000261206:P135S	P	+	1	0	ACSS3	80027564	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.619000	0.74219	2.885000	0.99019	0.655000	0.94253	CCT		0.318	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		7	24	0	0	0	0	7	24				
PPFIA2	8499	broad.mit.edu	37	12	81762520	81762520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81762520G>C	ENST00000549396.1	-	13	1626	c.1466C>G	c.(1465-1467)gCt>gGt	p.A489G	PPFIA2_ENST00000549325.1_Missense_Mutation_p.A471G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A336G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A471G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A489G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A390G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A56G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A415G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	489	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTAGAGCAGCCATTCTTTC	0.353																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1465-1467)GCT>GGT		PTPRF interacting protein alpha 2							273.0	260.0	264.0					12																	81762520		1843	4101	5944	SO:0001583	missense	8499							g.chr12:81762520G>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1466C>G	12.37:g.81762520G>C	ENSP00000450337:p.Ala489Gly					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.A489G	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			13	1627	-			415					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1466C>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325787	0.24080	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.49139	2.09;2.09;1.74;1.77;2.09;2.09;1.78;2.1;0.79	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	L	0.51422	1.61	0.80722	D	1	P	0.47762	0.9	B	0.36378	0.223	T	0.38265	-0.9669	10	0.30854	T	0.27	-15.1814	19.4993	0.95086	0.0:0.0:1.0:0.0	.	489	O75334	LIPA2_HUMAN	G	489;471;56;415;500;471;489;390;489;70;56	ENSP00000450337:A489G;ENSP00000450298:A471G;ENSP00000438337:A56G;ENSP00000385093:A415G;ENSP00000327416:A471G;ENSP00000449338:A489G;ENSP00000388373:A390G;ENSP00000447868:A489G;ENSP00000448941:A70G	ENSP00000327416:A471G	A	-	2	0	PPFIA2	80286651	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.353	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			12	70	0	0	0	0	12	70				
RNF17	56163	broad.mit.edu	37	13	25451309	25451309	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:25451309C>G	ENST00000255324.5	+	34	4810	c.4758C>G	c.(4756-4758)ctC>ctG	p.L1586L	RNF17_ENST00000339524.3_Silent_p.L596L|RNF17_ENST00000381921.1_Silent_p.L1544L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1586					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAAACAACTCTATGCTGTGT	0.418																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(4756-4758)CTC>CTG		ring finger protein 17							94.0	84.0	87.0					13																	25451309		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25451309C>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4758C>G	13.37:g.25451309C>G						RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.L1582L|RNF17_uc001ups.2_Silent_p.L1525L|RNF17_uc010aac.2_Silent_p.L778L|RNF17_uc010aad.2_Silent_p.L596L	p.L1586L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	34	4799	+		Lung SC(185;0.0225)|Breast(139;0.077)	1586					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.4758C>G	CCDS9308.2																																																																																				0.418	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		7	11	0	0	0	0	7	11				
BRCA2	675	broad.mit.edu	37	13	32914805	32914805	+	Missense_Mutation	SNP	A	A	G	rs397507368		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:32914805A>G	ENST00000380152.3	+	11	6546	c.6313A>G	c.(6313-6315)Ata>Gta	p.I2105V	BRCA2_ENST00000544455.1_Missense_Mutation_p.I2105V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTATCAAAAATACTTCCTCG	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6313-6315)ATA>GTA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							47.0	49.0	48.0					13																	32914805		2203	4298	6501	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914805A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6313A>G	13.37:g.32914805A>G	ENSP00000369497:p.Ile2105Val	TCGA Ovarian(8;0.087)					p.I2105V	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6540	+		Lung SC(185;0.0262)	2105					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6313A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.904	-0.721310	0.03182	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00691	5.84;5.84	5.49	0.0951	0.14484	.	0.837749	0.10695	N	0.644675	T	0.00754	0.0025	L	0.52364	1.645	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.49244	-0.8960	10	0.18276	T	0.48	.	0.6193	0.00775	0.2489:0.2119:0.3312:0.2081	.	2105	P51587	BRCA2_HUMAN	V	2105	ENSP00000369497:I2105V;ENSP00000439902:I2105V	ENSP00000369497:I2105V	I	+	1	0	BRCA2	31812805	0.000000	0.05858	0.009000	0.14445	0.308000	0.27856	-0.530000	0.06179	0.031000	0.15407	-0.468000	0.05107	ATA		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		13	15	0	0	0	0	13	15				
FNDC3A	22862	broad.mit.edu	37	13	49752754	49752754	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:49752754G>A	ENST00000492622.2	+	14	1886	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	FNDC3A_ENST00000541916.1_Silent_p.V527V|FNDC3A_ENST00000398316.3_Silent_p.V471V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	527	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTACACAGTGAAAAATCTCA	0.343																																						uc001vcm.2		NA																	0				lung(2)	2						c.(1579-1581)GTG>GTA		fibronectin type III domain containing 3A							107.0	109.0	109.0					13																	49752754		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49752754G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1581G>A	13.37:g.49752754G>A						FNDC3A_uc001vcn.2_Silent_p.V527V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Silent_p.V453V|FNDC3A_uc001vcq.2_Silent_p.V471V	p.V527V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	14	1886	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	527			Fibronectin type-III 3.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.1581G>A	CCDS41886.1																																																																																				0.343	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		5	34	0	0	0	0	5	34				
ATP11A	23250	broad.mit.edu	37	13	113439477	113439477	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:113439477G>T	ENST00000487903.1	+	2	156	c.68G>T	c.(67-69)aGc>aTc	p.S23I	ATP11A_ENST00000375630.2_Missense_Mutation_p.S23I|ATP11A_ENST00000283558.8_Missense_Mutation_p.S23I|ATP11A_ENST00000375645.3_Missense_Mutation_p.S23I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	23					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGGGTGGACAGCAGGACCATC	0.572											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(67-69)AGC>ATC		ATPase, class VI, type 11A isoform a							145.0	134.0	138.0					13																	113439477		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113439477G>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.68G>T	13.37:g.113439477G>T	ENSP00000420387:p.Ser23Ile		OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1450	ATP11A_uc001vsj.3_Missense_Mutation_p.S23I|ATP11A_uc001vsm.1_5'UTR	p.S23I	NM_015205	NP_056020	P98196	AT11A_HUMAN			2	156	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	23			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.68G>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505587	0.44558	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.83	3.09	0.35607	.	0.257933	0.50627	D	0.000109	T	0.47673	0.1458	M	0.67517	2.055	0.46298	D	0.998976	B;B	0.33212	0.402;0.209	B;B	0.34652	0.187;0.172	T	0.38436	-0.9661	10	0.41790	T	0.15	.	7.0768	0.25209	0.3526:0.0:0.6474:0.0	.	23;23	E9PEJ6;P98196	.;AT11A_HUMAN	I	23	ENSP00000420387:S23I;ENSP00000364781:S23I;ENSP00000364796:S23I;ENSP00000283558:S23I	ENSP00000283558:S23I	S	+	2	0	ATP11A	112487478	1.000000	0.71417	0.923000	0.36655	0.996000	0.88848	1.654000	0.37334	0.571000	0.29365	0.643000	0.83706	AGC		0.572	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		47	37	1	0	4.44e-20	5.29e-20	47	37				
PTPN21	11099	broad.mit.edu	37	14	88945294	88945294	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:88945294C>T	ENST00000556564.1	-	13	2765	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K	PTPN21_ENST00000328736.3_Silent_p.K827K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	827					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACGATGTTCTTCTTCCCAG	0.647																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(2479-2481)AAG>AAA		protein tyrosine phosphatase, non-receptor type							43.0	50.0	47.0					14																	88945294		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945294C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2481G>A	14.37:g.88945294C>T						PTPN21_uc010twc.1_Silent_p.K623K	p.K827K	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	2812	-			827						Silent	SNP	ENST00000556564.1	37	c.2481G>A	CCDS9884.1																																																																																				0.647	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			35	51	0	0	0	0	35	51				
ATXN3	4287	broad.mit.edu	37	14	92563179	92563179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:92563179C>A	ENST00000532032.1	-	2	37	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E10*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E10*|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E10*|ATXN3_ENST00000545170.1_Nonsense_Mutation_p.E10*			P54252	ATX3_HUMAN	ataxin 3	10	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGTGAGCCTTCTTGCTAATAT	0.328																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NA																	0					0						c.(28-30)GAA>TAA		ataxin 3 reference isoform							65.0	63.0	64.0					14																	92563179		2203	4300	6503	SO:0001587	stop_gained	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92563179C>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.28G>T	14.37:g.92563179C>A	ENSP00000437157:p.Glu10*					ATXN3_uc010aug.2_Nonsense_Mutation_p.E10*|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Nonsense_Mutation_p.E10*|ATXN3_uc001yae.3_5'UTR|ATXN3_uc010twl.1_Intron	p.E10*	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	2	97	-		all_cancers(154;0.0768)	10			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Nonsense_Mutation	SNP	ENST00000532032.1	37	c.28G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.355520	0.97498	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000506466	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.4756	0.90791	0.0:1.0:0.0:0.0	.	.	.	.	X	10;10;10;10;10;10;10;10;9;10;10;10;10;10;10	.	ENSP00000352324:E10X	E	-	1	0	ATXN3	91632932	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.401000	0.79962	2.622000	0.88805	0.536000	0.68110	GAA		0.328	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		16	43	1	0	7.08e-05	7.72e-05	16	43				
YY1	7528	broad.mit.edu	37	14	100706146	100706146	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:100706146G>A	ENST00000262238.4	+	1	825	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	189					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cctcagcggcggggccggcgc	0.721																																						uc001ygy.1		NA																	0					0						c.(565-567)GGG>AGG		YY1 transcription factor							3.0	4.0	4.0					14																	100706146		1476	2876	4352	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100706146G>A	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.565G>A	14.37:g.100706146G>A	ENSP00000262238:p.Gly189Arg						p.G189R	NM_003403	NP_003394	P25490	TYY1_HUMAN			1	1045	+		Melanoma(154;0.152)	189					Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.565G>A	CCDS9957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.792858|2.792858	0.50102|0.50102	.|.	.|.	ENSG00000100811|ENSG00000100811	ENST00000262238|ENST00000553625	T|.	0.10860|.	2.83|.	2.47|2.47	1.55|1.55	0.23275|0.23275	.|.	0.153912|.	0.41097|.	U|.	0.000959|.	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.08118|0.08118	0|0	0.34624|0.34624	D|D	0.718926|0.718926	D|.	0.56521|.	0.976|.	B|.	0.40602|.	0.334|.	T|T	0.18777|0.18777	-1.0326|-1.0326	10|5	0.16896|.	T|.	0.51|.	.|.	3.0688|3.0688	0.06224|0.06224	0.159:0.0:0.5785:0.2626|0.159:0.0:0.5785:0.2626	.|.	189|.	P25490|.	TYY1_HUMAN|.	R|Q	189|19	ENSP00000262238:G189R|.	ENSP00000262238:G189R|.	G|R	+|+	1|2	0|0	YY1|YY1	99775899|99775899	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	4.989000|4.989000	0.63870|0.63870	0.354000|0.354000	0.24105|0.24105	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.721	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		5	12	0	0	0	0	5	12				
CDAN1	146059	broad.mit.edu	37	15	43026218	43026218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43026218G>C	ENST00000356231.3	-	8	1308	c.1285C>G	c.(1285-1287)Caa>Gaa	p.Q429E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	429					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGACAGCTTGAGTAGAGGGA	0.468																																						uc001zql.2		NA																	0				ovary(2)	2						c.(1285-1287)CAA>GAA		codanin 1							100.0	95.0	97.0					15																	43026218		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43026218G>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1285C>G	15.37:g.43026218G>C	ENSP00000348564:p.Gln429Glu					CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	p.Q429E	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	8	1402	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	429					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1285C>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070189	0.93950	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87334	-2.24	5.95	5.95	0.96441	.	0.163089	0.56097	D	0.000036	D	0.89539	0.6744	M	0.61703	1.905	0.58432	D	0.999999	P	0.47106	0.89	P	0.47626	0.552	D	0.89488	0.3755	10	0.59425	D	0.04	-3.6932	20.3931	0.98965	0.0:0.0:1.0:0.0	.	429	Q8IWY9	CDAN1_HUMAN	E	429;427	ENSP00000348564:Q429E	ENSP00000267892:Q427E	Q	-	1	0	CDAN1	40813510	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.879000	0.92398	2.824000	0.97209	0.655000	0.94253	CAA		0.468	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		16	8	0	0	0	0	16	8				
CATSPER2	117155	broad.mit.edu	37	15	43939313	43939313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43939313G>A	ENST00000321596.5	-	4	522	c.323C>T	c.(322-324)cCt>cTt	p.P108L	CATSPER2_ENST00000354127.4_Missense_Mutation_p.P108L|CATSPER2_ENST00000464721.1_5'Flank|CATSPER2_ENST00000381761.1_Missense_Mutation_p.P114L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.P108L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.P108L|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	108					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTTGAAGAGAGGACCTGTTGT	0.368																																						uc001zsh.2		NA																	0				ovary(1)	1						c.(322-324)CCT>CTT		sperm-associated cation channel 2 isoform 2							113.0	106.0	109.0					15																	43939313		2199	4296	6495	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43939313G>A	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.323C>T	15.37:g.43939313G>A	ENSP00000321463:p.Pro108Leu					CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.P108L|CATSPER2_uc001zsj.2_Missense_Mutation_p.P108L|CATSPER2_uc001zsk.2_Missense_Mutation_p.P108L	p.P108L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	4	538	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	108			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.323C>T	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010777	0.35511	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	3.29	2.25	0.28309	.	0.980889	0.08282	U	0.969833	D	0.95360	0.8494	L	0.56769	1.78	0.35908	D	0.830867	B;B;B	0.33171	0.4;0.228;0.179	B;B;B	0.26969	0.075;0.051;0.032	D	0.95125	0.8250	10	0.66056	D	0.02	.	7.8034	0.29187	0.0:0.2596:0.7404:0.0	.	108;114;108	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	L	108;108;114;108;108;108	ENSP00000380088:P108L;ENSP00000371180:P114L;ENSP00000321463:P108L;ENSP00000339137:P108L;ENSP00000347613:P108L	ENSP00000299989:P108L	P	-	2	0	CATSPER2	41726605	0.645000	0.27286	0.997000	0.53966	0.869000	0.49853	2.762000	0.47597	1.831000	0.53308	0.398000	0.26397	CCT		0.368	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		29	25	0	0	0	0	29	25				
SPG11	80208	broad.mit.edu	37	15	44887540	44887540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:44887540C>T	ENST00000261866.7	-	26	4568	c.4552G>A	c.(4552-4554)Gag>Aag	p.E1518K	SPG11_ENST00000535302.2_Missense_Mutation_p.E1518K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1518K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1518K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1518					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAAAGATCCTCAAGGTTCCAG	0.418																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(4552-4554)GAG>AAG		spatacsin isoform 1							139.0	129.0	132.0					15																	44887540		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44887540C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4552G>A	15.37:g.44887540C>T	ENSP00000261866:p.Glu1518Lys					SPG11_uc010ueh.1_Missense_Mutation_p.E1518K|SPG11_uc010uei.1_Missense_Mutation_p.E1518K|SPG11_uc001zty.1_Missense_Mutation_p.E247K	p.E1518K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	26	4583	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1518			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4552G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443352	0.43429	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78595	-1.19;-1.19;-1.19	5.53	2.57	0.30868	.	0.428124	0.24945	N	0.034350	T	0.60983	0.2311	L	0.31294	0.92	0.09310	N	0.999995	B;B;B	0.21071	0.002;0.051;0.002	B;B;B	0.18871	0.006;0.023;0.006	T	0.41270	-0.9518	10	0.16896	T	0.51	.	7.32	0.26521	0.0:0.4908:0.3507:0.1585	.	1518;1518;1518	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	K	1518	ENSP00000261866:E1518K;ENSP00000445278:E1518K;ENSP00000396110:E1518K	ENSP00000261866:E1518K	E	-	1	0	SPG11	42674832	0.946000	0.32159	0.275000	0.24674	0.952000	0.60782	2.296000	0.43584	0.268000	0.21939	0.655000	0.94253	GAG		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			28	25	0	0	0	0	28	25				
SECISBP2L	9728	broad.mit.edu	37	15	49320740	49320740	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:49320740A>G	ENST00000559471.1	-	5	1067	c.804T>C	c.(802-804)atT>atC	p.I268I	SECISBP2L_ENST00000261847.3_Silent_p.I268I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	268							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TATCACTGTCAATGTCGGCTT	0.512																																						uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(802-804)ATT>ATC		SECIS binding protein 2-like							150.0	127.0	135.0					15																	49320740		2197	4295	6492	SO:0001819	synonymous_variant	9728							g.chr15:49320740A>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.804T>C	15.37:g.49320740A>G						SECISBP2L_uc001zxd.1_Silent_p.I268I|SECISBP2L_uc010bep.1_Silent_p.I30I|SECISBP2L_uc010beq.1_Intron	p.I268I	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			5	938	-			268					Q8N767	Silent	SNP	ENST00000559471.1	37	c.804T>C	CCDS53942.1																																																																																				0.512	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		14	12	0	0	0	0	14	12				
ZNF592	9640	broad.mit.edu	37	15	85326988	85326988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85326988C>T	ENST00000560079.2	+	4	1370	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	ZNF592_ENST00000299927.3_Missense_Mutation_p.S361L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	361					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAAAGGCTCACCGTCTGTG	0.527																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(1081-1083)TCA>TTA		zinc finger protein 592							62.0	68.0	66.0					15																	85326988		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326988C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1082C>T	15.37:g.85326988C>T	ENSP00000452877:p.Ser361Leu					ZNF592_uc010upb.1_RNA	p.S361L	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1418	+			361					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1082C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914828	0.72983	.	.	ENSG00000166716	ENST00000299927	T	0.00717	5.79	4.53	4.53	0.55603	.	0.105364	0.64402	D	0.000002	T	0.03959	0.0111	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.38628	-0.9652	10	0.87932	D	0	-11.1154	14.8299	0.70139	0.0:1.0:0.0:0.0	.	361	Q92610	ZN592_HUMAN	L	361	ENSP00000299927:S361L	ENSP00000299927:S361L	S	+	2	0	ZNF592	83127992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.396000	0.79891	2.344000	0.79699	0.655000	0.94253	TCA		0.527	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		18	40	0	0	0	0	18	40				
ALPK3	57538	broad.mit.edu	37	15	85405871	85405871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405871G>A	ENST00000258888.5	+	10	4908	c.4741G>A	c.(4741-4743)Gaa>Aaa	p.E1581K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1581					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCAGTTGGAGAAGAGATTGA	0.572																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4741-4743)GAA>AAA		alpha-kinase 3							62.0	57.0	59.0					15																	85405871		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405871G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4741G>A	15.37:g.85405871G>A	ENSP00000258888:p.Glu1581Lys					ALPK3_uc010upc.1_5'Flank	p.E1581K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4908	+			1581					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4741G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153436	0.94645	.	.	ENSG00000136383	ENST00000258888	T	0.07444	3.19	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	L	0.32530	0.975	0.58432	D	0.999993	D	0.71674	0.998	D	0.77557	0.99	T	0.00561	-1.1670	10	0.87932	D	0	-17.782	15.7728	0.78184	0.0:0.0:1.0:0.0	.	1581	Q96L96	ALPK3_HUMAN	K	1581	ENSP00000258888:E1581K	ENSP00000258888:E1581K	E	+	1	0	ALPK3	83206875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.074000	0.93998	2.578000	0.87016	0.655000	0.94253	GAA		0.572	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		16	30	0	0	0	0	16	30				
ALPK3	57538	broad.mit.edu	37	15	85405916	85405916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405916G>A	ENST00000258888.5	+	10	4953	c.4786G>A	c.(4786-4788)Gac>Aac	p.D1596N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1596	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGTCTGGCTGACTCTGGCTG	0.582																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4786-4788)GAC>AAC		alpha-kinase 3							61.0	61.0	61.0					15																	85405916		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405916G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4786G>A	15.37:g.85405916G>A	ENSP00000258888:p.Asp1596Asn					ALPK3_uc010upc.1_5'Flank	p.D1596N	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4953	+			1596			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4786G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055708	0.93793	.	.	ENSG00000136383	ENST00000258888	T	0.06768	3.26	4.97	4.97	0.65823	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	L	0.55481	1.735	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.00232	-1.1895	10	0.35671	T	0.21	-30.0019	15.7728	0.78184	0.0:0.0:1.0:0.0	.	1596	Q96L96	ALPK3_HUMAN	N	1596	ENSP00000258888:D1596N	ENSP00000258888:D1596N	D	+	1	0	ALPK3	83206920	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.074000	0.93998	2.578000	0.87016	0.655000	0.94253	GAC		0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		13	33	0	0	0	0	13	33				
GDPGP1	390637	broad.mit.edu	37	15	90785083	90785083	+	Missense_Mutation	SNP	G	G	C	rs35018599		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:90785083G>C	ENST00000558017.1	+	4	1363	c.943G>C	c.(943-945)Gcc>Ccc	p.A315P	GDPGP1_ENST00000329600.6_Missense_Mutation_p.A315P	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	315					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										AATTCTGTGGGCCCGGAAGTC	0.552																																						uc002bpc.2		NA																	0					0						c.(943-945)GCC>CCC		hypothetical protein LOC390637							87.0	85.0	86.0					15																	90785083		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90785083G>C		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.943G>C	15.37:g.90785083G>C	ENSP00000452793:p.Ala315Pro						p.A315P	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			4	1122	+			315						Missense_Mutation	SNP	ENST00000558017.1	37	c.943G>C	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534309	0.27475	.	.	ENSG00000183208	ENST00000329600	T	0.23754	1.89	5.62	1.22	0.21188	.	0.261464	0.37530	N	0.002054	T	0.09905	0.0243	N	0.02876	-0.465	0.51012	D	0.999904	B	0.10296	0.003	B	0.12156	0.007	T	0.35025	-0.9805	10	0.02654	T	1	-5.8245	16.6873	0.85312	0.0:0.5019:0.4981:0.0	.	315	Q6ZNW5	VTC2_HUMAN	P	315	ENSP00000368405:A315P	ENSP00000368405:A315P	A	+	1	0	C15orf58	88586087	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	2.596000	0.46205	0.276000	0.22118	0.655000	0.94253	GCC		0.552	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		27	32	0	0	0	0	27	32				
PKD1	5310	broad.mit.edu	37	16	2164258	2164258	+	Silent	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:2164258G>C	ENST00000262304.4	-	11	2974	c.2766C>G	c.(2764-2766)ctC>ctG	p.L922L	PKD1_ENST00000423118.1_Silent_p.L922L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	922	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGCAGGCTGAGGTTGGCCC	0.672																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(2764-2766)CTC>CTG		polycystin 1 isoform 1 precursor							17.0	16.0	17.0					16																	2164258		2178	4272	6450	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164258G>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2766C>G	16.37:g.2164258G>C						PKD1_uc002cot.1_Silent_p.L922L	p.L922L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			11	2975	-			922			Extracellular (Potential).|PKD 3.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.2766C>G	CCDS32369.1																																																																																				0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	18	0	0	0	0	7	18				
PKD1	5310	broad.mit.edu	37	16	2166979	2166979	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:2166979G>A	ENST00000262304.4	-	7	1669	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	PKD1_ENST00000423118.1_Silent_p.F487F|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	487	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTCCAGGCTGAAGGCCTCGC	0.711																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1459-1461)TTC>TTT		polycystin 1 isoform 1 precursor							2.0	2.0	2.0					16																	2166979		1083	2414	3497	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2166979G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1461C>T	16.37:g.2166979G>A						PKD1_uc002cot.1_Silent_p.F487F	p.F487F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			7	1670	-			487			C-type lectin.|Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.1461C>T	CCDS32369.1																																																																																				0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	5	0	0	0	0	3	5				
MKL2	57496	broad.mit.edu	37	16	14312825	14312825	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:14312825A>G	ENST00000341243.5	+	6	630	c.630A>G	c.(628-630)ccA>ccG	p.P210P	MKL2_ENST00000574045.1_Silent_p.P221P|MKL2_ENST00000573051.1_Silent_p.P170P|MKL2_ENST00000318282.5_Silent_p.P221P|MKL2_ENST00000571589.1_Silent_p.P221P|MKL2_ENST00000572567.1_Silent_p.P210P			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	210					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGAATCGCCATCTCCTGTGA	0.458																																						uc010uza.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(661-663)CCA>CCG		megakaryoblastic leukemia 2 protein							88.0	80.0	83.0					16																	14312825		2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14312825A>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.630A>G	16.37:g.14312825A>G						MKL2_uc002dcg.2_Silent_p.P221P|MKL2_uc002dch.2_Silent_p.P210P|MKL2_uc010uzb.1_Silent_p.P170P	p.P221P	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			8	818	+			210					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.663A>G																																																																																					0.458	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		8	28	0	0	0	0	8	28				
PSMB10	5699	broad.mit.edu	37	16	67969351	67969351	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:67969351A>G	ENST00000358514.4	-	6	867	c.530T>C	c.(529-531)cTa>cCa	p.L177P	CTC-479C5.12_ENST00000573493.1_Nonstop_Mutation_p.*31Q	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	177					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)|cell morphogenesis (GO:0000902)|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)|humoral immune response (GO:0006959)|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)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	CCGGTCTTCTAGCACCGCCAG	0.647																																						uc002eux.1		NA																	0					0						c.(529-531)CTA>CCA		proteasome beta 10 subunit proprotein							76.0	79.0	78.0					16																	67969351		2198	4300	6498	SO:0001583	missense	5699				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|humoral immune response|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.chr16:67969351A>G	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.530T>C	16.37:g.67969351A>G	ENSP00000351314:p.Leu177Pro						p.L177P	NM_002801	NP_002792	P40306	PSB10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	6	631	-		Ovarian(137;0.0563)	177					B2R5J4|Q5U098	Missense_Mutation	SNP	ENST00000358514.4	37	c.530T>C	CCDS10853.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419293	0.83559	.	.	ENSG00000205220	ENST00000358514	T	0.54279	0.58	5.03	5.03	0.67393	.	0.088240	0.50627	D	0.000104	D	0.82268	0.5000	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87804	0.2627	10	0.87932	D	0	-10.7509	11.0711	0.48004	1.0:0.0:0.0:0.0	.	177	P40306	PSB10_HUMAN	P	177	ENSP00000351314:L177P	ENSP00000351314:L177P	L	-	2	0	PSMB10	66526852	0.999000	0.42202	0.919000	0.36401	0.522000	0.34438	4.636000	0.61339	2.112000	0.64535	0.454000	0.30748	CTA		0.647	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		12	37	0	0	0	0	12	37				
PLCG2	5336	broad.mit.edu	37	16	81971422	81971422	+	Silent	SNP	C	C	T	rs200813182	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:81971422C>T	ENST00000359376.3	+	28	3326	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1038	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTACGTTCTGCAGCCTGA	0.522													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20759	0.0		0.001	False		,,,				2504	0.0					uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(3112-3114)CTG>TTG		phospholipase C, gamma 2		C		3,4267		0,3,2132	106.0	104.0	105.0		3112	4.5	1.0	16		105	5,8497		0,5,4246	no	coding-synonymous	PLCG2	NM_002661.3		0,8,6378	TT,TC,CC		0.0588,0.0703,0.0626		1038/1266	81971422	8,12764	2135	4251	6386	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81971422C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3112C>T	16.37:g.81971422C>T							p.L1038L	NM_002661	NP_002652	P16885	PLCG2_HUMAN			28	3264	+			1038			PI-PLC Y-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.3112C>T	CCDS42204.1																																																																																				0.522	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			23	21	0	0	0	0	23	21				
ANKRD11	29123	broad.mit.edu	37	16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:89350644G>C	ENST00000301030.4	-	9	2766	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGTCTTTTGATTTCTTCTT	0.348																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2305-2307)TCA>TGA		ankyrin repeat domain 11							54.0	58.0	57.0					16																	89350644		2194	4294	6488	SO:0001587	stop_gained	29123					nucleus		g.chr16:89350644G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2306C>G	16.37:g.89350644G>C	ENSP00000301030:p.Ser769*					ANKRD11_uc002fmy.1_Nonsense_Mutation_p.S769*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.S769*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.S726*	p.S769*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2767	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	769			Lys-rich.		Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	ENST00000301030.4	37	c.2306C>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	43	10.427293	0.99403	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	.	.	.	5.66	4.68	0.58851	.	0.078412	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	11.464	0.50227	0.0:0.136:0.7227:0.1413	.	.	.	.	X	769;769;388	.	ENSP00000301030:S769X	S	-	2	0	ANKRD11	87878145	1.000000	0.71417	0.746000	0.31095	0.968000	0.65278	6.319000	0.72871	1.350000	0.45770	0.561000	0.74099	TCA		0.348	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	30	0	0	0	0	6	30				
CD68	968	broad.mit.edu	37	17	7483025	7483025	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7483025C>T	ENST00000250092.6	+	1	241	c.30C>T	c.(28-30)gcC>gcT	p.A10A	AC113189.5_ENST00000417897.1_RNA|AC113189.5_ENST00000415124.1_RNA|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000380498.6_Silent_p.A10A|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000572046.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	10					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						TCTCGGGGGCCCTGCTGGGGC	0.637																																						uc002ghv.2		NA																	0					0						c.(28-30)GCC>GCT		CD68 antigen isoform A							31.0	30.0	30.0					17																	7483025		2203	4299	6502	SO:0001819	synonymous_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7483025C>T	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.30C>T	17.37:g.7483025C>T						CD68_uc002ghu.2_Silent_p.A10A	p.A10A	NM_001251	NP_001242	P34810	CD68_HUMAN			1	221	+			10					B4DVT4|Q53HR6|Q53XI3|Q96BI7	Silent	SNP	ENST00000250092.6	37	c.30C>T	CCDS11114.1																																																																																				0.637	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		3	11	0	0	0	0	3	11				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(526-528)TGC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y	p.C176Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	40	0	0	0	0	22	40				
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	p.R110L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	523	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.329G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	44	1	0	1.57e-10	1.83e-10	38	44				
GLP2R	9340	broad.mit.edu	37	17	9774114	9774114	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:9774114C>G	ENST00000262441.5	+	10	1620	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	GLP2R_ENST00000574745.1_Silent_p.L189L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	369					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TTTCTAAGCTCAAAGCTCATC	0.398																																						uc002gmd.1		NA																	0				lung(2)|ovary(1)	3						c.(1105-1107)CTC>CTG		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						164.0	176.0	172.0					17																	9774114		2203	4299	6502	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9774114C>G	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1107C>G	17.37:g.9774114C>G							p.L369L	NM_004246	NP_004237	O95838	GLP2R_HUMAN			10	1107	+			369			Cytoplasmic (Potential).		Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.1107C>G	CCDS11150.1																																																																																				0.398	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			39	74	0	0	0	0	39	74				
MYH3	4621	broad.mit.edu	37	17	10544406	10544406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:10544406G>C	ENST00000583535.1	-	19	2248	c.2161C>G	c.(2161-2163)Caa>Gaa	p.Q721E	MYH3_ENST00000226209.7_Missense_Mutation_p.Q721E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	721	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACACACCTTTGTTTAAAATCG	0.453																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2161-2163)CAA>GAA		myosin, heavy chain 3, skeletal muscle,							127.0	116.0	120.0					17																	10544406		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10544406G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2161C>G	17.37:g.10544406G>C	ENSP00000464317:p.Gln721Glu						p.Q721E	NM_002470	NP_002461	P11055	MYH3_HUMAN			18	2238	-			721			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2161C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212602	0.79240	.	.	ENSG00000109063	ENST00000226209	D	0.86694	-2.16	5.87	5.87	0.94306	Myosin head, motor domain (2);	.	.	.	.	D	0.87736	0.6252	M	0.64170	1.965	0.53688	D	0.999977	B	0.13145	0.007	B	0.22601	0.04	T	0.82802	-0.0277	9	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	721	P11055	MYH3_HUMAN	E	721	ENSP00000226209:Q721E	ENSP00000226209:Q721E	Q	-	1	0	MYH3	10485131	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.951000	0.87819	2.941000	0.99782	0.655000	0.94253	CAA		0.453	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		13	90	0	0	0	0	13	90				
GGNBP2	79893	broad.mit.edu	37	17	34935812	34935812	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:34935812T>C	ENST00000304718.4	+	8	1299	c.983T>C	c.(982-984)tTc>tCc	p.F328S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	328					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGATGCTTTTCTATCTTGGT	0.433																																						uc002hnb.2		NA																	0				ovary(2)	2						c.(982-984)TTC>TCC		zinc finger protein 403							167.0	161.0	163.0					17																	34935812		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34935812T>C	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.983T>C	17.37:g.34935812T>C	ENSP00000307617:p.Phe328Ser					GGNBP2_uc002hna.2_Missense_Mutation_p.F328S|GGNBP2_uc002hnc.1_Missense_Mutation_p.F157S	p.F328S	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	8	1232	+		Breast(25;0.00957)|Ovarian(249;0.17)	328					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.983T>C	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695048	0.88830	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.988	D;D;P	0.71414	0.973;0.973;0.796	T	0.67389	-0.5683	9	0.54805	T	0.06	-9.6779	16.0791	0.80989	0.0:0.0:0.0:1.0	.	328;328;328	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	S	328	.	ENSP00000307617:F328S	F	+	2	0	GGNBP2	32009925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.385000	0.79763	2.200000	0.70718	0.377000	0.23210	TTC		0.433	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		26	95	0	0	0	0	26	95				
HOXB7	3217	broad.mit.edu	37	17	46685394	46685394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:46685394T>C	ENST00000239165.7	-	2	562	c.464A>G	c.(463-465)gAa>gGa	p.E155G	HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000491264.1_RNA	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GTAGTGAAATTCTTTCTCCAG	0.547																																						uc002inv.2		NA																	0					0						c.(463-465)GAA>GGA		homeobox B7							86.0	86.0	86.0					17																	46685394		2203	4300	6503	SO:0001583	missense	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685394T>C		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.464A>G	17.37:g.46685394T>C	ENSP00000239165:p.Glu155Gly						p.E155G	NM_004502	NP_004493	P09629	HXB7_HUMAN			2	567	-			155			Homeobox.		A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	37	c.464A>G	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.811066	0.90707	.	.	ENSG00000120087	ENST00000239165	D	0.96554	-4.05	4.58	4.58	0.56647	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99605	1.0979	10	0.87932	D	0	.	13.8102	0.63260	0.0:0.0:0.0:1.0	.	155	P09629	HXB7_HUMAN	G	155	ENSP00000239165:E155G	ENSP00000239165:E155G	E	-	2	0	HOXB7	44040393	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.859000	0.86982	1.911000	0.55334	0.460000	0.39030	GAA		0.547	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			42	54	0	0	0	0	42	54				
HID1	283987	broad.mit.edu	37	17	72951930	72951930	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:72951930G>A	ENST00000425042.2	-	13	1670	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	531					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CCTCCAGGAGGAAGAAGACCA	0.587																																						uc002jmj.3		NA																	0					0						c.(1591-1593)TTC>TTT		hypothetical protein LOC283987							127.0	109.0	115.0					17																	72951930		2203	4300	6503	SO:0001819	synonymous_variant	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72951930G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1593C>T	17.37:g.72951930G>A						C17orf28_uc002jmi.2_5'Flank|C17orf28_uc010wrs.1_Silent_p.F330F	p.F531F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			13	1742	-	all_lung(278;0.151)|Lung NSC(278;0.185)		531					Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	c.1593C>T	CCDS32726.1																																																																																				0.587	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		27	34	0	0	0	0	27	34				
RNF213	57674	broad.mit.edu	37	17	78343325	78343325	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:78343325G>A	ENST00000582970.1	+	45	12322	c.12179G>A	c.(12178-12180)cGc>cAc	p.R4060H	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2133H|RNF213_ENST00000508628.2_Missense_Mutation_p.R4109H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4060					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGCATGCCCGCTTCCGGCAG	0.498																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(6397-6399)CGC>CAC		ring finger protein 213							116.0	115.0	115.0					17																	78343325		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78343325G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12179G>A	17.37:g.78343325G>A	ENSP00000464087:p.Arg4060His					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R515H	p.R2133H	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		20	6621	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.6398G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208673	0.22205	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23147	1.92	5.22	0.0892	0.14458	.	1.123610	0.06349	N	0.709475	T	0.18215	0.0437	L	0.33245	0.995	0.22620	N	0.998926	B;B	0.18013	0.025;0.001	B;B	0.09377	0.004;0.001	T	0.29971	-0.9994	10	0.41790	T	0.15	.	5.1683	0.15098	0.6129:0.0:0.2425:0.1446	.	4109;2133	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4060;4109;2133	ENSP00000338218:R2133H	ENSP00000338218:R2133H	R	+	2	0	RNF213	75957920	0.815000	0.29118	0.835000	0.33067	0.883000	0.51084	0.412000	0.21131	0.175000	0.19841	-0.312000	0.09012	CGC		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	102	0	0	0	0	4	102				
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																						uc002klp.2		NA																	1	Substitution - Missense(1)	p.R212R(1)	endometrium(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(634-636)AGG>AAG		myomesin 1 isoform a							260.0	242.0	248.0					18																	3188882		2044	4187	6231	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188882C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys					MYOM1_uc002klq.2_Missense_Mutation_p.R212K	p.R212K	NM_003803	NP_003794	P52179	MYOM1_HUMAN			4	969	-			212			6.|6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.635G>A	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		0.517	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	48	0	0	0	0	4	48				
LAMA3	3909	broad.mit.edu	37	18	21526172	21526172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:21526172G>A	ENST00000313654.9	+	70	9516	c.9275G>A	c.(9274-9276)gGa>gAa	p.G3092E	LAMA3_ENST00000269217.6_Missense_Mutation_p.G1483E|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1427E|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3036E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3092	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCCCGGGAGGGAAGTTTGCCT	0.493																																						uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(9274-9276)GGA>GAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						118.0	96.0	104.0					18																	21526172		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21526172G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9275G>A	18.37:g.21526172G>A	ENSP00000324532:p.Gly3092Glu					LAMA3_uc002kur.2_Missense_Mutation_p.G3036E|LAMA3_uc002kus.3_Missense_Mutation_p.G1483E|LAMA3_uc002kut.3_Missense_Mutation_p.G1427E	p.G3092E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			70	9361	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		3092			Laminin G-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.9275G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023681	0.75390	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.76448	-1.02;-1.02;-1.02	5.14	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82870	0.5131	L	0.61218	1.895	0.46927	D	0.999253	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.996	T	0.80331	-0.1427	9	0.02654	T	1	.	13.9092	0.63855	0.0734:0.0:0.9266:0.0	.	1427;1483;3036;3092	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	E	3092;3036;1483	ENSP00000324532:G3092E;ENSP00000382432:G3036E;ENSP00000269217:G1483E	ENSP00000269217:G1483E	G	+	2	0	LAMA3	19780170	1.000000	0.71417	0.553000	0.28255	0.931000	0.56810	5.463000	0.66712	1.383000	0.46405	0.655000	0.94253	GGA		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	44	0	0	0	0	7	44				
XAB2	56949	broad.mit.edu	37	19	7685323	7685323	+	Missense_Mutation	SNP	C	C	T	rs4134865	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:7685323C>T	ENST00000358368.4	-	16	2141	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T	XAB2_ENST00000534844.1_Missense_Mutation_p.A699T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	702			A -> T (in dbSNP:rs4134865). {ECO:0000269|Ref.4}.		blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCCAGAACGCGCCGGTCGTC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)					C|||	2	0.000399361	0.0	0.0	5008	,	,		14611	0.001		0.001	False		,,,				2504	0.0					uc002mgx.2		NA																	0				central_nervous_system(2)|breast(1)|skin(1)	4						c.(2104-2106)GCG>ACG	Direct_reversal_of_damage|NER	XPA binding protein 2		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	66.0	61.0	63.0		2104	2.2	0.1	19	dbSNP_108	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	XAB2	NM_020196.2	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	702/856	7685323	2,13004	2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7685323C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2104G>A	19.37:g.7685323C>T	ENSP00000351137:p.Ala702Thr						p.A702T	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			16	2130	-			702			HAT 14.		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2104G>A	CCDS32892.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.386	1.074155	0.20227	2.27E-4	1.16E-4	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.42131	0.98;0.98	4.7	2.16	0.27623	.	0.589948	0.17231	N	0.181951	T	0.14356	0.0347	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24728	-1.0152	10	0.20046	T	0.44	-17.4324	8.9299	0.35663	0.0:0.7308:0.0:0.2692	rs4134865;rs4134865	702	Q9HCS7	SYF1_HUMAN	T	702;699	ENSP00000351137:A702T;ENSP00000438225:A699T	ENSP00000351137:A702T	A	-	1	0	XAB2	7591323	0.000000	0.05858	0.059000	0.19551	0.096000	0.18686	0.099000	0.15210	0.973000	0.38340	0.305000	0.20034	GCG		0.657	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		10	73	0	0	0	0	10	73				
RAB3A	5864	broad.mit.edu	37	19	18313497	18313497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18313497G>C	ENST00000222256.4	-	2	232	c.54C>G	c.(52-54)aaC>aaG	p.N18K	AC068499.10_ENST00000596473.1_RNA|AC068499.10_ENST00000594805.3_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000599416.2_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	18					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TGTAGTCGAAGTTCTGATCCG	0.582											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nie.2		NA																	0					0						c.(52-54)AAC>AAG		RAB3A, member RAS oncogene family							256.0	215.0	229.0					19																	18313497		2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313497G>C		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.54C>G	19.37:g.18313497G>C	ENSP00000222256:p.Asn18Lys		OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724		p.N18K	NM_002866	NP_002857	P20336	RAB3A_HUMAN			2	223	-			18					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.54C>G	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115098	0.56505	.	.	ENSG00000105649	ENST00000222256	T	0.78003	-1.14	4.4	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	N	0.16201	0.385	0.80722	D	1	D	0.56287	0.975	P	0.50896	0.653	T	0.66006	-0.6030	10	0.59425	D	0.04	-38.2141	8.3632	0.32372	0.1984:0.0:0.8016:0.0	.	18	P20336	RAB3A_HUMAN	K	18	ENSP00000222256:N18K	ENSP00000222256:N18K	N	-	3	2	RAB3A	18174497	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.591000	0.36665	0.318000	0.23185	0.313000	0.20887	AAC		0.582	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		32	99	0	0	0	0	32	99				
CRTC1	23373	broad.mit.edu	37	19	18853806	18853806	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18853806C>T	ENST00000321949.8	+	2	239	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTC1_ENST00000594658.1_Silent_p.I30I|CRTC1_ENST00000601916.1_5'UTR|CRTC1_ENST00000338797.6_Silent_p.I71I	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGAACCAGATCGGGAGTGGCA	0.667																																						uc002nkb.3		NA																CRTC1/MAML2(516)	0				salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						c.(211-213)ATC>ATT		mucoepidermoid carcinoma translocated 1 isoform							47.0	46.0	46.0					19																	18853806		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18853806C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.213C>T	19.37:g.18853806C>T						CRTC1_uc010ebv.2_Silent_p.I71I	p.I71I	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN			2	301	+			71						Silent	SNP	ENST00000321949.8	37	c.213C>T	CCDS32963.1																																																																																				0.667	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		17	25	0	0	0	0	17	25				
ZNF43	7594	broad.mit.edu	37	19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:21991574C>G	ENST00000354959.4	-	4	1434	c.1265G>C	c.(1264-1266)gGa>gCa	p.G422A	ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A|ZNF43_ENST00000594012.1_Missense_Mutation_p.G416A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	422					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1264-1266)GGA>GCA		zinc finger protein 43							65.0	68.0	67.0					19																	21991574		2190	4292	6482	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991574C>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1265G>C	19.37:g.21991574C>G	ENSP00000347045:p.Gly422Ala					ZNF43_uc010ecv.2_Missense_Mutation_p.G416A|ZNF43_uc002nql.2_Missense_Mutation_p.G416A|ZNF43_uc002nqm.2_Missense_Mutation_p.G416A|ZNF43_uc002nqk.2_Missense_Mutation_p.G352A	p.G422A	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1395	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	422					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1265G>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040956	0.35989	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.26373	1.74	1.75	1.75	0.24633	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33644	0.0870	L	0.38649	1.16	0.30316	N	0.788022	D	0.76494	0.999	D	0.81914	0.995	T	0.21177	-1.0253	9	0.62326	D	0.03	.	4.0904	0.09967	0.2608:0.4817:0.2574:0.0	.	422	P17038	ZNF43_HUMAN	A	421;422	ENSP00000347045:G422A	ENSP00000347045:G422A	G	-	2	0	ZNF43	21783414	0.000000	0.05858	0.017000	0.16124	0.063000	0.16089	0.560000	0.23500	0.972000	0.38314	0.298000	0.19748	GGA		0.373	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		7	44	0	0	0	0	7	44				
ZNF227	7770	broad.mit.edu	37	19	44738977	44738977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:44738977C>T	ENST00000313040.7	+	6	599	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.Q81*|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.Q81*|ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000586228.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	132					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAGGTGTCTTCAGGGGAAGAG	0.373																																						uc002oyu.2		NA																	0				ovary(1)	1						c.(394-396)CAG>TAG		zinc finger protein 227							80.0	85.0	84.0					19																	44738977		2203	4300	6503	SO:0001587	stop_gained	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44738977C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.394C>T	19.37:g.44738977C>T	ENSP00000321049:p.Gln132*					ZNF227_uc010xwu.1_Nonsense_Mutation_p.Q81*|ZNF227_uc002oyv.2_Nonsense_Mutation_p.Q132*|ZNF227_uc010xwv.1_Nonsense_Mutation_p.Q81*|ZNF227_uc010xww.1_Nonsense_Mutation_p.Q53*|ZNF227_uc002oyw.2_Nonsense_Mutation_p.Q104*|ZNF227_uc010ejh.2_Nonsense_Mutation_p.Q125*|ZNF235_uc002oyx.1_RNA	p.Q132*	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	599	+		Prostate(69;0.0435)	132					B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	ENST00000313040.7	37	c.394C>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114401	0.77210	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	3.71	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.999916	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.5617	0.39373	0.0:0.8944:0.0:0.1055	.	.	.	.	X	132;89;81;111	.	ENSP00000321049:Q132X	Q	+	1	0	ZNF227	49430817	.	.	0.011000	0.14972	0.111000	0.19643	.	.	1.150000	0.42419	0.563000	0.77884	CAG		0.373	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		21	46	0	0	0	0	21	46				
FBXO46	23403	broad.mit.edu	37	19	46215299	46215299	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:46215299G>A	ENST00000317683.3	-	2	1588	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	485	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCAGGAAGCTGAAGATCTTGA	0.632																																						uc002pcy.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1453-1455)TTC>TTT		F-box protein 46							15.0	17.0	17.0					19																	46215299		2155	4247	6402	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215299G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1455C>T	19.37:g.46215299G>A						FBXO46_uc002pcz.2_Silent_p.F485F	p.F485F	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1580	-		Ovarian(192;0.179)|all_neural(266;0.224)	485			F-box.			Silent	SNP	ENST00000317683.3	37	c.1455C>T	CCDS46116.1																																																																																				0.632	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		6	23	0	0	0	0	6	23				
TFCP2L1	29842	broad.mit.edu	37	2	121997182	121997182	+	Missense_Mutation	SNP	G	G	A	rs137971940		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:121997182G>A	ENST00000263707.5	-	8	909	c.812C>T	c.(811-813)cCg>cTg	p.P271L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	271					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTTGGGGACGGGGCGCTGTT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19003	0.0		0.0	False		,,,				2504	0.0					uc002tmx.2		NA																	0				pancreas(2)|ovary(1)	3						c.(811-813)CCG>CTG		LBP-9		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	121.0	112.0	115.0		812	4.4	0.3	2	dbSNP_134	115	0,8600		0,0,4300	no	missense	TFCP2L1	NM_014553.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	271/480	121997182	1,13005	2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121997182G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.812C>T	2.37:g.121997182G>A	ENSP00000263707:p.Pro271Leu					TFCP2L1_uc010flr.2_Missense_Mutation_p.P271L	p.P271L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			8	905	-	Renal(3;0.01)		271					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.812C>T	CCDS2134.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.3	4.271687	0.80469	2.27E-4	0.0	ENSG00000115112	ENST00000263707	T	0.19806	2.12	5.28	4.4	0.53042	.	0.056666	0.64402	D	0.000001	T	0.27419	0.0673	L	0.51914	1.62	0.80722	D	1	D	0.54601	0.967	P	0.50109	0.631	T	0.02115	-1.1211	10	0.23302	T	0.38	.	13.8391	0.63428	0.0735:0.0:0.9265:0.0	.	271	Q9NZI6	TF2L1_HUMAN	L	271	ENSP00000263707:P271L	ENSP00000263707:P271L	P	-	2	0	TFCP2L1	121713652	1.000000	0.71417	0.252000	0.24328	0.909000	0.53808	9.256000	0.95535	1.232000	0.43678	0.563000	0.77884	CCG		0.612	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		21	24	0	0	0	0	21	24				
TTN	7273	broad.mit.edu	37	2	179484357	179484357	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:179484357C>G	ENST00000591111.1	-	200	41988	c.41764G>C	c.(41764-41766)Gaa>Caa	p.E13922Q	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15563Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6623Q|TTN_ENST00000460472.2_Missense_Mutation_p.E6498Q|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6690Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12995Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13922					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)			CCTGCCAGTTCAAGCTTAGCT	0.383																																						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.(38983-38985)GAA>CAA		titin isoform N2-A							141.0	139.0	140.0					2																	179484357		1845	4086	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484357C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41764G>C	2.37:g.179484357C>G	ENSP00000465570:p.Glu13922Gln					TTN_uc010zfh.1_Missense_Mutation_p.E6690Q|TTN_uc010zfi.1_Missense_Mutation_p.E6623Q|TTN_uc010zfj.1_Missense_Mutation_p.E6498Q	p.E12995Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		199	39207	-			13922					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.38983G>C		.	.	.	.	.	.	.	.	.	.	C	14.89	2.671021	0.47781	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;0.09;0.06;0.06	5.79	5.79	0.91817	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78559	0.4302	L	0.42245	1.32	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.79237	-0.1886	9	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	6498;6623;6690;13922	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12995;6498;6690;6623;6498	ENSP00000343764:E12995Q;ENSP00000434586:E6498Q;ENSP00000340554:E6690Q;ENSP00000352154:E6623Q	ENSP00000340554:E6690Q	E	-	1	0	TTN	179192602	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.710000	0.84655	2.733000	0.93635	0.655000	0.94253	GAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	51	0	0	0	0	12	51				
ZNF804A	91752	broad.mit.edu	37	2	185802803	185802803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:185802803G>A	ENST00000302277.6	+	4	3274	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	894							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACCAATGGTGAAACTGAGCA	0.403																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2680-2682)GAA>AAA		zinc finger protein 804A							96.0	89.0	92.0					2																	185802803		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802803G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2680G>A	2.37:g.185802803G>A	ENSP00000303252:p.Glu894Lys						p.E894K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3274	+			894					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2680G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	4.377	0.069463	0.08436	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.57	1.42	0.22433	.	0.638690	0.14470	N	0.317606	T	0.03827	0.0108	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.39482	-0.9612	10	0.41790	T	0.15	-3.0364	5.4331	0.16464	0.3234:0.2033:0.4733:0.0	.	894	Q7Z570	Z804A_HUMAN	K	894	ENSP00000303252:E894K	ENSP00000303252:E894K	E	+	1	0	ZNF804A	185511048	0.000000	0.05858	0.001000	0.08648	0.228000	0.25075	-0.376000	0.07465	0.694000	0.31654	0.591000	0.81541	GAA		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		10	51	0	0	0	0	10	51				
STAT4	6775	broad.mit.edu	37	2	191900890	191900890	+	Splice_Site	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:191900890C>T	ENST00000392320.2	-	17	1884	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I	STAT4_ENST00000470708.1_5'Flank|STAT4_ENST00000358470.4_Splice_Site_p.V524I	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	524					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCTCTCACCTGTAAGCTTC	0.423																																						uc002usm.1		NA																	0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(1570-1572)GTC>ATC		signal transducer and activator of transcription							95.0	84.0	88.0					2																	191900890		2203	4300	6503	SO:0001630	splice_region_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191900890C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1570+1G>A	2.37:g.191900890C>T						STAT4_uc002usn.1_Missense_Mutation_p.V524I|STAT4_uc010zgk.1_Missense_Mutation_p.V369I|STAT4_uc002uso.2_Missense_Mutation_p.V524I	p.V524I	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		17	1824	-			524					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1570G>A	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629591	0.87660	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.87334	-2.24;-2.24	5.83	5.83	0.93111	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.579426	0.14271	N	0.330137	D	0.83450	0.5257	L	0.29908	0.895	0.80722	D	1	B;B;B	0.23185	0.081;0.081;0.081	B;B;B	0.28385	0.089;0.089;0.089	T	0.75628	-0.3252	9	.	.	.	-4.9384	20.1195	0.97955	0.0:1.0:0.0:0.0	.	433;524;524	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	I	524	ENSP00000351255:V524I;ENSP00000376134:V524I	.	V	-	1	0	STAT4	191609135	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.520000	0.81821	2.759000	0.94783	0.650000	0.86243	GTC		0.423	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	Missense_Mutation	10	14	0	0	0	0	10	14				
PASK	23178	broad.mit.edu	37	2	242078139	242078139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:242078139C>T	ENST00000405260.1	-	5	1369	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PASK_ENST00000403638.3_Missense_Mutation_p.R224H|PASK_ENST00000234040.4_Missense_Mutation_p.R224H|PASK_ENST00000544142.1_Missense_Mutation_p.R38H|PASK_ENST00000539818.1_Missense_Mutation_p.R8H|PASK_ENST00000358649.4_Missense_Mutation_p.R224H	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	224					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCATAGGCGGCGCTCCTGCCG	0.572																																						uc002wao.1		NA																	0		p.R224C(1)		ovary(4)|lung(1)|skin(1)	6						c.(670-672)CGC>CAC		PAS domain containing serine/threonine kinase							106.0	94.0	98.0					2																	242078139		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242078139C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.671G>A	2.37:g.242078139C>T	ENSP00000384016:p.Arg224His					PASK_uc010zol.1_Missense_Mutation_p.R38H|PASK_uc010zom.1_Missense_Mutation_p.R224H|PASK_uc010fzl.1_Missense_Mutation_p.R224H|PASK_uc010zon.1_Missense_Mutation_p.R5H|PASK_uc002waq.2_Missense_Mutation_p.R224H	p.R224H	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	5	763	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	224					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.671G>A	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.19|13.19	2.161735|2.161735	0.38119|0.38119	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|D;T;D;D;T;D;T	.|0.99571	.|-6.19;-0.54;-6.19;-6.19;-0.54;-6.19;-0.54	4.65|4.65	-9.29|-9.29	0.00653|0.00653	.|PAS (1);PAS fold (1);	.|1.160130	.|0.06318	.|N	.|0.704032	D|D	0.96253|0.96253	0.8778|0.8778	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	D|D	0.94568|0.94568	0.7768|0.7768	5|10	.|0.19590	.|T	.|0.45	.|.	8.3499|8.3499	0.32297|0.32297	0.1049:0.6026:0.1061:0.1864|0.1049:0.6026:0.1061:0.1864	.|.	.|224;38;224;224;224	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	T|H	39|224;38;224;224;8;224;8	.|ENSP00000234040:R224H;ENSP00000441374:R38H;ENSP00000384016:R224H;ENSP00000351475:R224H;ENSP00000443083:R8H;ENSP00000384438:R224H;ENSP00000400734:R8H	.|ENSP00000234040:R224H	A|R	-|-	1|2	0|0	PASK|PASK	241726812|241726812	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.914000|0.914000	0.54420|0.54420	-2.642000|-2.642000	0.00863|0.00863	-1.839000|-1.839000	0.01186|0.01186	-1.120000|-1.120000	0.02017|0.02017	GCC|CGC		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		27	17	0	0	0	0	27	17				
SLC12A5	57468	broad.mit.edu	37	20	44673612	44673612	+	Missense_Mutation	SNP	G	G	A	rs564134718		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr20:44673612G>A	ENST00000454036.2	+	12	1520	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E468K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	491					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGTTTGGCGAAGCTGTGAA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20513	0.0		0.0	False		,,,				2504	0.0					uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1471-1473)GAA>AAA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						166.0	152.0	157.0					20																	44673612		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673612G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1471G>A	20.37:g.44673612G>A	ENSP00000387694:p.Glu491Lys					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E468K	p.E491K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			12	1547	+		Myeloproliferative disorder(115;0.0122)	491			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1471G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724216	0.68959	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98649	-5.05;-5.05	4.12	4.12	0.48240	Amino acid permease domain (1);	0.139743	0.47455	D	0.000229	D	0.96448	0.8841	L	0.41236	1.265	0.80722	D	1	P;P	0.46987	0.888;0.864	B;B	0.40199	0.322;0.216	D	0.96163	0.9117	10	0.39692	T	0.17	.	15.1071	0.72329	0.0:0.0:1.0:0.0	.	491;468	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	K	491;468	ENSP00000387694:E491K;ENSP00000243964:E468K	ENSP00000243964:E468K	E	+	1	0	SLC12A5	44107019	1.000000	0.71417	0.960000	0.40013	0.458000	0.32498	9.263000	0.95617	2.117000	0.64856	0.313000	0.20887	GAA		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			23	94	0	0	0	0	23	94				
HUNK	30811	broad.mit.edu	37	21	33331187	33331187	+	Missense_Mutation	SNP	C	C	T	rs554519222	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:33331187C>T	ENST00000270112.2	+	5	1139	c.779C>T	c.(778-780)aCg>aTg	p.T260M		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACCGGGACGCTGCCTTTC	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19709	0.0		0.001	False		,,,				2504	0.0					uc002yph.2		NA																	0				stomach(1)|skin(1)	2						c.(778-780)ACG>ATG		hormonally upregulated Neu-associated kinase							152.0	136.0	141.0					21																	33331187		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33331187C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.779C>T	21.37:g.33331187C>T	ENSP00000270112:p.Thr260Met						p.T260M	NM_014586	NP_055401	P57058	HUNK_HUMAN			5	1139	+			260			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.779C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051737	0.75960	.	.	ENSG00000142149	ENST00000270112	T	0.66280	-0.2	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.118163	0.56097	D	0.000034	T	0.73118	0.3546	L	0.39147	1.195	0.58432	D	0.999991	D	0.76494	0.999	D	0.76071	0.987	T	0.76208	-0.3043	10	0.87932	D	0	-28.4563	18.2097	0.89866	0.0:1.0:0.0:0.0	.	260	P57058	HUNK_HUMAN	M	260	ENSP00000270112:T260M	ENSP00000270112:T260M	T	+	2	0	HUNK	32253058	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	4.179000	0.58290	2.525000	0.85131	0.655000	0.94253	ACG		0.542	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		20	37	0	0	0	0	20	37				
COL18A1	80781	broad.mit.edu	37	21	46925146	46925146	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:46925146C>T	ENST00000359759.4	+	34	4233	c.4212C>T	c.(4210-4212)ccC>ccT	p.P1404P	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Silent_p.P1169P|COL18A1_ENST00000400337.2_Silent_p.P989P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1404	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCGGCCCCCCAGGCCCCC	0.731																																						uc011afs.1		NA																	0				central_nervous_system(1)	1						c.(4201-4203)CCC>CCT		alpha 1 type XVIII collagen isoform 3 precursor							8.0	13.0	11.0					21																	46925146		1727	3968	5695	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925146C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4212C>T	21.37:g.46925146C>T						COL18A1_uc002zhg.2_Silent_p.P986P|COL18A1_uc002zhi.2_Silent_p.P1166P|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	p.P1401P	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	35	4224	+			1404			Triple-helical region 9 (COL9).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.4203C>T																																																																																					0.731	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			3	6	0	0	0	0	3	6				
COL6A1	1291	broad.mit.edu	37	21	47423706	47423706	+	Missense_Mutation	SNP	G	G	C	rs149534094	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:47423706G>C	ENST00000361866.3	+	35	2980	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	956	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CGCTGCCATCGAGAAGGCCGT	0.672																																						uc002zhu.1		NA																	0				ovary(1)	1						c.(2866-2868)GAG>CAG		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						30.0	30.0	30.0					21																	47423706		2201	4298	6499	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423706G>C	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2866G>C	21.37:g.47423706G>C	ENSP00000355180:p.Glu956Gln					COL6A1_uc010gqd.1_Missense_Mutation_p.E287Q|COL6A1_uc002zhv.1_Missense_Mutation_p.E287Q|COL6A1_uc002zhw.1_Missense_Mutation_p.E50Q	p.E956Q	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2968	+	all_hematologic(128;0.24)		956			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2866G>C	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033786	0.54896	.	.	ENSG00000142156	ENST00000361866	D	0.83163	-1.69	4.83	3.95	0.45737	von Willebrand factor, type A (3);	0.131174	0.49916	D	0.000126	T	0.78559	0.4302	L	0.41236	1.265	0.47547	D	0.99945	P	0.39624	0.681	P	0.45794	0.493	T	0.73216	-0.4053	10	0.28530	T	0.3	-30.7382	8.858	0.35240	0.0798:0.1494:0.7707:0.0	.	956	P12109	CO6A1_HUMAN	Q	956	ENSP00000355180:E956Q	ENSP00000355180:E956Q	E	+	1	0	COL6A1	46248134	1.000000	0.71417	0.962000	0.40283	0.358000	0.29455	5.164000	0.64954	1.040000	0.40099	0.596000	0.82720	GAG		0.672	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		8	73	0	0	0	0	8	73				
DENND6B	414918	broad.mit.edu	37	22	50752701	50752701	+	Splice_Site	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr22:50752701C>G	ENST00000413817.3	-	13	1144	c.1073G>C	c.(1072-1074)gGa>gCa	p.G358A	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	358					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGGCAGGTCTCCTACGAGACA	0.637																																						uc011aru.1		NA																	0					0						c.(1072-1074)GGA>GCA		family with sequence similarity 116, member B							33.0	37.0	36.0					22																	50752701		1931	4116	6047	SO:0001630	splice_region_variant	414918							g.chr22:50752701C>G	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1073-1G>C	22.37:g.50752701C>G						FAM116B_uc011arv.1_Missense_Mutation_p.G358A	p.G358A	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	1145	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	358					A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1073G>C	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032134	0.54790	.	.	ENSG00000205593	ENST00000413817	.	.	.	5.09	5.09	0.68999	.	0.051350	0.85682	D	0.000000	T	0.76364	0.3977	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72520	-0.4268	9	0.12103	T	0.63	.	15.9873	0.80168	0.0:1.0:0.0:0.0	.	358;358	Q8NEG7;C9JIV6	F116B_HUMAN;.	A	358	.	ENSP00000391524:G358A	G	-	2	0	FAM116B	49095273	0.999000	0.42202	1.000000	0.80357	0.262000	0.26303	4.127000	0.57944	2.365000	0.80145	0.462000	0.41574	GGA		0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794	Missense_Mutation	3	22	0	0	0	0	3	22				
GHRL	51738	broad.mit.edu	37	3	10331501	10331501	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:10331501A>T	ENST00000335542.8	-	4	1040	c.170T>A	c.(169-171)cTc>cAc	p.L57H	GHRL_ENST00000439975.2_Intron|GHRL_ENST00000430179.1_Missense_Mutation_p.L56H|GHRL_ENST00000287656.7_Missense_Mutation_p.L56H|GHRL_ENST00000449238.2_Missense_Mutation_p.L44H|GHRL_ENST00000449554.2_Missense_Mutation_p.L56H|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000437422.2_Missense_Mutation_p.L45H|GHRL_ENST00000429122.1_Missense_Mutation_p.L57H|GHRL_ENST00000457360.1_Missense_Mutation_p.L57H|GHRL_ENST00000450603.1_Missense_Mutation_p.L57H|GHRL_ENST00000422159.1_Missense_Mutation_p.L57H|GHRLOS_ENST00000605105.1_RNA|GHRLOS_ENST00000603771.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRLOS_ENST00000605014.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	57					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TTCCGGGCGGAGCCAGCCTGC	0.587																																						uc010hdf.2		NA																	0				ovary(1)	1						c.(169-171)CTC>CAC		ghrelin/obestatin isoform 1 preproprotein							145.0	155.0	151.0					3																	10331501		2203	4300	6503	SO:0001583	missense	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331501A>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.170T>A	3.37:g.10331501A>T	ENSP00000335074:p.Leu57His					GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_RNA|GHRL_uc010hdb.1_RNA|GHRL_uc003bvj.1_Missense_Mutation_p.L57H|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Missense_Mutation_p.L44H|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Missense_Mutation_p.L56H|GHRL_uc010hdi.2_Missense_Mutation_p.L57H|GHRL_uc010hdh.2_Missense_Mutation_p.L57H|GHRL_uc010hdj.2_Missense_Mutation_p.L45H|GHRLOS_uc011auk.1_Intron	p.L57H	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN			3	305	-			57					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	ENST00000335542.8	37	c.170T>A	CCDS33700.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.361037	0.61403	.	.	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000422159;ENST00000449238;ENST00000437422;ENST00000287656;ENST00000457360;ENST00000429122	T;T;T;T;T;T;T;T;T;T	0.52983	1.16;1.16;1.16;1.16;0.64;1.16;1.16;1.16;1.16;1.16	4.14	2.98	0.34508	Motilin/ghrelin-associated peptide (1);	0.856832	0.09900	N	0.741207	T	0.59891	0.2227	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.996;0.99;0.988;0.996	D;P;P;P;P	0.66847	0.947;0.794;0.873;0.8;0.75	T	0.42378	-0.9455	10	0.54805	T	0.06	-4.7034	6.2159	0.20656	0.8849:0.0:0.1151:0.0	.	44;45;57;56;57	Q9UBU3-4;Q9UBU3-3;Q9UBU3;Q9UBU3-2;Q86YP8	.;.;GHRL_HUMAN;.;.	H	57;56;57;56;57;44;45;56;57;57	ENSP00000335074:L57H;ENSP00000399922:L56H;ENSP00000389192:L57H;ENSP00000415521:L56H;ENSP00000405464:L57H;ENSP00000388145:L44H;ENSP00000416768:L45H;ENSP00000287656:L56H;ENSP00000391406:L57H;ENSP00000414819:L57H	ENSP00000287656:L56H	L	-	2	0	GHRL	10306501	0.000000	0.05858	0.001000	0.08648	0.538000	0.34931	0.494000	0.22467	0.761000	0.33130	0.533000	0.62120	CTC		0.587	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		60	36	0	0	0	0	60	36				
KLHDC8B	200942	broad.mit.edu	37	3	49210467	49210467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:49210467G>A	ENST00000332780.2	+	2	474	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	89						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTGTGGATGAGGTCCAGAG	0.662																																						uc003cwh.2		NA																	0					0						c.(265-267)GAG>AAG		kelch domain containing 8B							24.0	24.0	24.0					3																	49210467		2203	4299	6502	SO:0001583	missense	200942					cytoplasm		g.chr3:49210467G>A		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.265G>A	3.37:g.49210467G>A	ENSP00000327468:p.Glu89Lys					KLHDC8B_uc003cwi.1_5'Flank	p.E89K	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	450	+			89			Kelch 3.			Missense_Mutation	SNP	ENST00000332780.2	37	c.265G>A	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	G	9.824	1.186568	0.21870	.	.	ENSG00000185909	ENST00000332780	T	0.67345	-0.26	5.31	4.38	0.52667	Kelch-type beta propeller (1);	0.343377	0.31145	N	0.008176	T	0.48840	0.1522	N	0.14661	0.345	0.30351	N	0.784764	B	0.16166	0.016	B	0.10450	0.005	T	0.53809	-0.8386	10	0.59425	D	0.04	-29.9902	11.9559	0.52981	0.0:0.0:0.7016:0.2984	.	89	Q8IXV7	KLD8B_HUMAN	K	89	ENSP00000327468:E89K	ENSP00000327468:E89K	E	+	1	0	KLHDC8B	49185471	0.006000	0.16342	1.000000	0.80357	0.997000	0.91878	0.988000	0.29616	2.496000	0.84212	0.561000	0.74099	GAG		0.662	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		13	2	0	0	0	0	13	2				
OR5K2	402135	broad.mit.edu	37	3	98217323	98217323	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:98217323G>A	ENST00000427338.1	+	1	876	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E267Q(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTGCTTGAAGAAGGAGGTAA	0.328																																						uc011bgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(799-801)GAA>AAA		olfactory receptor, family 5, subfamily K,							76.0	78.0	78.0					3																	98217323		2202	4300	6502	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217323G>A	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.799G>A	3.37:g.98217323G>A	ENSP00000393889:p.Glu267Lys						p.E267K	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	799	+			267			Extracellular (Potential).		B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.799G>A	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	2.633	-0.285979	0.05605	.	.	ENSG00000231861	ENST00000427338	T	0.00084	8.75	2.98	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.172677	0.27327	U	0.019877	T	0.00109	0.0003	N	0.25957	0.775	0.09310	N	1	B	0.15141	0.012	B	0.23150	0.044	T	0.35025	-0.9805	10	0.72032	D	0.01	-11.9429	4.2791	0.10824	0.1328:0.242:0.6252:0.0	.	267	Q8NHB8	OR5K2_HUMAN	K	267	ENSP00000393889:E267K	ENSP00000393889:E267K	E	+	1	0	OR5K2	99700013	0.206000	0.23470	0.121000	0.21740	0.013000	0.08279	1.393000	0.34497	0.779000	0.33543	0.491000	0.48974	GAA		0.328	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			32	4	0	0	0	0	32	4				
PCCB	5096	broad.mit.edu	37	3	135974807	135974807	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:135974807A>T	ENST00000251654.4	+	2	363	c.293A>T	c.(292-294)gAt>gTt	p.D98V	PCCB_ENST00000490504.1_Missense_Mutation_p.D98V|PCCB_ENST00000478469.1_Missense_Mutation_p.D98V|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Missense_Mutation_p.D98V|PCCB_ENST00000471595.1_Missense_Mutation_p.D98V|PCCB_ENST00000468777.1_Missense_Mutation_p.D98V|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000483687.1_Missense_Mutation_p.D98V|PCCB_ENST00000462637.1_Missense_Mutation_p.D98V|PCCB_ENST00000469217.1_Missense_Mutation_p.D98V	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	98	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATGGCTGCTGATAAGAATAAG	0.433																																						uc003eqy.1		NA																	0					0						c.(292-294)GAT>GTT		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						134.0	127.0	130.0					3																	135974807		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:135974807A>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.293A>T	3.37:g.135974807A>T	ENSP00000251654:p.Asp98Val					PCCB_uc003eqz.1_Missense_Mutation_p.D98V|PCCB_uc011bmc.1_Missense_Mutation_p.D98V|PCCB_uc011bmd.1_Missense_Mutation_p.D15V	p.D98V	NM_000532	NP_000523	P05166	PCCB_HUMAN			2	344	+			98			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.293A>T	CCDS3089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.41|16.41	3.115547|3.115547	0.56505|0.56505	.|.	.|.	ENSG00000114054|ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000471595;ENST00000469217;ENST00000465423;ENST00000478469;ENST00000494742;ENST00000459873|ENST00000462542	D;D;D;D;D;D;D;D;D;D;D;D|.	0.98996|.	-5.04;-4.65;-5.02;-5.03;-3.8;-4.63;-5.03;-5.08;-4.52;-4.93;-4.34;-5.31|.	4.61|4.61	4.61|4.61	0.57282|0.57282	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);|.	0.216604|.	0.45606|.	D|.	0.000351|.	T|T	0.74015|0.74015	0.3661|0.3661	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.26602|.	0.143;0.154;0.097;0.021|.	B;B;B;B|.	0.36186|.	0.079;0.219;0.077;0.077|.	T|T	0.75775|0.75775	-0.3199|-0.3199	10|5	0.87932|.	D|.	0|.	.|.	13.1182|13.1182	0.59311|0.59311	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	15;98;98;98|.	B7Z7U9;B7Z2Z4;E9PDR0;P05166|.	.;.;.;PCCB_HUMAN|.	V|L	98;98;98;98;98;98;98;98;127;98;15;15|54	ENSP00000251654:D98V;ENSP00000418307:D98V;ENSP00000420639:D98V;ENSP00000419129:D98V;ENSP00000420391:D98V;ENSP00000420158:D98V;ENSP00000417549:D98V;ENSP00000419027:D98V;ENSP00000419263:D127V;ENSP00000420759:D98V;ENSP00000418020:D15V;ENSP00000419293:D15V|.	ENSP00000251654:D98V|.	D|I	+|+	2|1	0|0	PCCB|PCCB	137457497|137457497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.330000|5.330000	0.65899|0.65899	1.946000|1.946000	0.56461|0.56461	0.379000|0.379000	0.24179|0.24179	GAT|ATA		0.433	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			11	55	0	0	0	0	11	55				
HLTF	6596	broad.mit.edu	37	3	148791054	148791054	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:148791054A>G	ENST00000310053.5	-	5	778	c.585T>C	c.(583-585)taT>taC	p.Y195Y	HLTF_ENST00000465259.1_Silent_p.Y195Y|HLTF_ENST00000494055.1_Silent_p.Y195Y|HLTF_ENST00000392912.2_Silent_p.Y195Y	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	195					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGGCATACTATAGCTTGGTC	0.353																																						uc003ewq.1		NA																	0				ovary(1)	1						c.(583-585)TAT>TAC		helicase-like transcription factor							65.0	69.0	68.0					3																	148791054		2203	4300	6503	SO:0001819	synonymous_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148791054A>G	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.585T>C	3.37:g.148791054A>G						HLTF_uc003ewr.1_Silent_p.Y195Y|HLTF_uc003ews.1_Silent_p.Y195Y|HLTF_uc010hve.1_Silent_p.Y195Y	p.Y195Y	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	803	-			195					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	c.585T>C	CCDS33875.1																																																																																				0.353	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			36	14	0	0	0	0	36	14				
TP63	8626	broad.mit.edu	37	3	189612152	189612152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:189612152G>T	ENST00000264731.3	+	14	1993	c.1904G>T	c.(1903-1905)gGt>gTt	p.G635V	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Missense_Mutation_p.G541V|TP63_ENST00000449992.1_Missense_Mutation_p.G456V|TP63_ENST00000382063.4_Missense_Mutation_p.G550V|TP63_ENST00000456148.1_Missense_Mutation_p.G537V|TP63_ENST00000440651.2_Missense_Mutation_p.G631V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	635	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|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)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGACCCGGGGTGAGCGTGTT	0.577										HNSCC(45;0.13)																												uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	GRCh37	CD053011	TP63	D		c.(1903-1905)GGT>GTT		tumor protein p63 isoform 1							122.0	114.0	117.0					3																	189612152		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189612152G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1904G>T	3.37:g.189612152G>T	ENSP00000264731:p.Gly635Val	HNSCC(45;0.13)				TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.G541V|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.G456V	p.G635V	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	14	1993	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		635			Transactivation inhibition.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1904G>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257116	0.59321	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.9	5.9	0.94986	.	0.052519	0.85682	D	0.000000	T	0.81917	0.4924	N	0.19112	0.55	0.80722	D	1	P;P;P	0.48162	0.906;0.906;0.848	P;P;P	0.53450	0.726;0.66;0.536	T	0.79524	-0.1768	9	.	.	.	-16.9913	19.2671	0.93993	0.0:0.0:1.0:0.0	.	456;541;635	Q9H3D4-10;Q9H3D4-2;Q9H3D4	.;.;P63_HUMAN	V	635;631;550;541;456;537	ENSP00000264731:G635V;ENSP00000394337:G631V;ENSP00000371495:G550V;ENSP00000346614:G541V;ENSP00000387839:G456V;ENSP00000389485:G537V	.	G	+	2	0	TP63	191094846	1.000000	0.71417	0.570000	0.28473	0.316000	0.28119	7.341000	0.79300	2.788000	0.95919	0.650000	0.86243	GGT		0.577	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		15	94	1	0	1.57e-10	1.83e-10	15	94				
SGCB	6443	broad.mit.edu	37	4	52894901	52894901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:52894901C>T	ENST00000381431.5	-	4	838	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	SGCB_ENST00000535450.1_Missense_Mutation_p.E136K	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	206	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATACCCTTTCAGTAGATGCC	0.343																																						uc003gzj.2		NA																	0					0						c.(616-618)GAA>AAA		sarcoglycan, beta							75.0	75.0	75.0					4																	52894901		2203	4299	6502	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52894901C>T	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.616G>A	4.37:g.52894901C>T	ENSP00000370839:p.Glu206Lys					SGCB_uc011bzp.1_Missense_Mutation_p.E136K	p.E206K	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		4	676	-			206			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.616G>A	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888561	0.33348	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94537	-3.45;-3.45	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	L	0.41236	1.265	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.92835	0.6283	10	0.14656	T	0.56	-13.4669	17.7812	0.88523	0.0:1.0:0.0:0.0	.	136;206	B7Z635;Q16585	.;SGCB_HUMAN	K	206;136	ENSP00000370839:E206K;ENSP00000441199:E136K	ENSP00000370839:E206K	E	-	1	0	SGCB	52589658	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	7.776000	0.85560	2.528000	0.85240	0.655000	0.94253	GAA		0.343	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			4	39	0	0	0	0	4	39				
UGT2B4	7363	broad.mit.edu	37	4	70351035	70351035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:70351035C>G	ENST00000305107.6	-	5	1247	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D265H	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	401					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)	GCAATGTTATCAGGTTGATCT	0.443																																						uc003hek.3		NA																	0				skin(2)	2						c.(1201-1203)GAT>CAT		UDP glucuronosyltransferase 2B4 precursor							194.0	188.0	190.0					4																	70351035		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351035C>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.1201G>C	4.37:g.70351035C>G	ENSP00000305221:p.Asp401His					UGT2B4_uc011cap.1_Missense_Mutation_p.D265H|UGT2B4_uc003hel.3_Intron	p.D401H	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1248	-			401					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1201G>C	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027253	0.35797	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.64618	-0.11;-0.11	1.96	1.96	0.26148	.	0.069798	0.53938	U	0.000047	T	0.74458	0.3719	M	0.83012	2.62	0.36314	D	0.857808	B;D	0.58268	0.017;0.982	B;P	0.61132	0.066;0.884	T	0.81280	-0.1004	10	0.66056	D	0.02	.	9.9298	0.41514	0.0:1.0:0.0:0.0	.	265;401	A6NCP7;P06133	.;UD2B4_HUMAN	H	401;265	ENSP00000305221:D401H;ENSP00000370486:D265H	ENSP00000305221:D401H	D	-	1	0	UGT2B4	70385624	0.998000	0.40836	0.069000	0.20011	0.009000	0.06853	4.128000	0.57951	1.425000	0.47237	0.305000	0.20034	GAT		0.443	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		30	54	0	0	0	0	30	54				
SPEF2	79925	broad.mit.edu	37	5	35705828	35705828	+	Silent	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:35705828C>A	ENST00000356031.3	+	18	2737	c.2583C>A	c.(2581-2583)atC>atA	p.I861I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.I856I|SPEF2_ENST00000440995.2_Silent_p.I856I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	861					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAAAAATCAATGCTGAAA	0.274																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2581-2583)ATC>ATA		KPL2 protein isoform 1							45.0	40.0	41.0					5																	35705828		1783	4053	5836	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35705828C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2583C>A	5.37:g.35705828C>A						SPEF2_uc003jjq.3_Silent_p.I856I|SPEF2_uc003jjp.1_Silent_p.I347I	p.I861I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2694	+	all_lung(31;7.56e-05)		861					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.2583C>A	CCDS43309.1																																																																																				0.274	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	23	1	0	0.004672	0.0049779	3	23				
MTX3	345778	broad.mit.edu	37	5	79284343	79284343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:79284343C>T	ENST00000512528.1	-	5	466	c.446G>A	c.(445-447)aGg>aAg	p.R149K	MTX3_ENST00000509852.1_Missense_Mutation_p.R149K|MTX3_ENST00000512560.1_Missense_Mutation_p.R88K			Q5HYI7	MTX3_HUMAN	metaxin 3	149					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		CAGGAGAATCCTATTCAGTGC	0.458																																						uc010jag.2		NA																	0					0						c.(445-447)AGG>AAG		metaxin 3							67.0	63.0	64.0					5																	79284343		1894	4115	6009	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79284343C>T	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.446G>A	5.37:g.79284343C>T	ENSP00000424798:p.Arg149Lys					MTX3_uc010jah.2_Missense_Mutation_p.R149K|MTX3_uc003kge.3_Missense_Mutation_p.R88K|MTX3_uc003kgf.1_5'Flank	p.R149K	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	5	473	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	149					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.446G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.139130	0.94560	.	.	ENSG00000177034	ENST00000512560;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.47869	0.87;0.93;0.83	5.58	5.58	0.84498	Glutathione S-transferase, C-terminal-like (1);	.	.	.	.	T	0.62901	0.2466	L	0.56769	1.78	0.80722	D	1	D;B	0.76494	0.999;0.213	D;B	0.63283	0.913;0.115	T	0.54616	-0.8267	9	0.18710	T	0.47	.	19.5766	0.95447	0.0:1.0:0.0:0.0	.	149;149	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	K	88;149;149;149	ENSP00000423600:R88K;ENSP00000423302:R149K;ENSP00000424798:R149K	ENSP00000392181:R149K	R	-	2	0	MTX3	79320099	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.464000	0.80887	2.627000	0.88993	0.655000	0.94253	AGG		0.458	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		10	2	0	0	0	0	10	2				
CHSY3	337876	broad.mit.edu	37	5	129241116	129241116	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:129241116C>T	ENST00000305031.4	+	1	952	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	198					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGGCGCGTTTCATCCCGGGCC	0.721																																						uc003kvd.2		NA																	0				ovary(2)|pancreas(1)	3						c.(592-594)TTC>TTT		chondroitin sulfate synthase 3							8.0	13.0	11.0					5																	129241116		2132	4210	6342	SO:0001819	synonymous_variant	337876					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.chr5:129241116C>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.594C>T	5.37:g.129241116C>T							p.F198F	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	594	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	198			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	c.594C>T	CCDS34223.1																																																																																				0.721	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		7	10	0	0	0	0	7	10				
SEC24A	10802	broad.mit.edu	37	5	134044567	134044567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:134044567C>G	ENST00000398844.2	+	18	3004	c.2716C>G	c.(2716-2718)Ctc>Gtc	p.L906V		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	906					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGTTGGCTCTCCTTAAACA	0.468																																						uc003kzs.2		NA																	0					0						c.(2716-2718)CTC>GTC		SEC24 related gene family, member A							114.0	103.0	107.0					5																	134044567		1890	4105	5995	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134044567C>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2716C>G	5.37:g.134044567C>G	ENSP00000381823:p.Leu906Val					SEC24A_uc011cxu.1_Missense_Mutation_p.L670V	p.L906V	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	3004	+			906					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2716C>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593922	0.86953	.	.	ENSG00000113615	ENST00000398844	D	0.95001	-3.58	5.76	5.76	0.90799	Sec23/Sec24, helical domain (2);	0.115379	0.64402	D	0.000010	D	0.97663	0.9234	M	0.89840	3.065	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.62740	0.903;0.906	D	0.97501	1.0060	10	0.52906	T	0.07	-11.1742	19.9765	0.97312	0.0:1.0:0.0:0.0	.	670;906	B4E205;O95486	.;SC24A_HUMAN	V	906	ENSP00000381823:L906V	ENSP00000381823:L906V	L	+	1	0	SEC24A	134072466	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.699000	0.84547	2.733000	0.93635	0.467000	0.42956	CTC		0.468	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			16	2	0	0	0	0	16	2				
MDC1	9656	broad.mit.edu	37	6	30681733	30681733	+	Missense_Mutation	SNP	G	G	A	rs137893469	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681733G>A	ENST00000376406.3	-	3	1011	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	MDC1_ENST00000376405.2_Missense_Mutation_p.L122F|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	122	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCAGCAAAGAGAATCAATTCC	0.552								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(364-366)CTC>TTC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							77.0	75.0	76.0					6																	30681733		1511	2709	4220	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681733G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.364C>T	6.37:g.30681733G>A	ENSP00000365588:p.Leu122Phe					MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Missense_Mutation_p.L122F	p.L122F	NM_014641	NP_055456	Q14676	MDC1_HUMAN			3	804	-			122			Interaction with the MRN complex.|Interaction with CHEK2.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.364C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943433	0.53079	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000435797;ENST00000452213;ENST00000416571;ENST00000425072	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.68	2.85	0.33270	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.792225	0.10350	N	0.685241	D	0.88562	0.6470	L	0.55481	1.735	0.31721	N	0.638263	D	0.89917	1.0	D	0.80764	0.994	T	0.82192	-0.0579	10	0.72032	D	0.01	-3.5018	13.7985	0.63186	0.0:0.4484:0.5515:0.0	.	122	Q14676	MDC1_HUMAN	F	122	ENSP00000365588:L122F;ENSP00000365587:L122F;ENSP00000400979:L122F;ENSP00000396989:L122F	ENSP00000365587:L122F	L	-	1	0	MDC1	30789712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.256000	0.43231	0.295000	0.22570	-0.172000	0.13284	CTC		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		35	14	0	0	0	0	35	14				
MDC1	9656	broad.mit.edu	37	6	30681830	30681830	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681830G>A	ENST00000376406.3	-	3	914	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1_ENST00000376405.2_Silent_p.L89L|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(265-267)CTC>CTT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							111.0	94.0	100.0					6																	30681830		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681830G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.267C>T	6.37:g.30681830G>A						MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Silent_p.L89L	p.L89L	NM_014641	NP_055456	Q14676	MDC1_HUMAN			3	707	-			89			Interaction with the MRN complex.|FHA.|Interaction with CHEK2.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.267C>T	CCDS34384.1																																																																																				0.517	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		22	6	0	0	0	0	22	6				
CCHCR1	54535	broad.mit.edu	37	6	31122387	31122387	+	Silent	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:31122387T>A	ENST00000376266.5	-	4	542	c.420A>T	c.(418-420)cgA>cgT	p.R140R	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Silent_p.R193R|CCHCR1_ENST00000396263.2_Silent_p.R140R|CCHCR1_ENST00000396268.3_Silent_p.R229R	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	140					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAGCCTCAGCTCGGCCGGCCT	0.662																																						uc003nsr.3		NA																	0				skin(1)	1						c.(418-420)CGA>CGT		coiled-coil alpha-helical rod protein 1 isoform							142.0	182.0	168.0					6																	31122387		1509	2709	4218	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31122387T>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.420A>T	6.37:g.31122387T>A						CCHCR1_uc011dne.1_Silent_p.R140R|CCHCR1_uc003nsq.3_Silent_p.R193R|CCHCR1_uc003nsp.3_Silent_p.R229R|CCHCR1_uc010jsk.1_Silent_p.R140R	p.R140R	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			4	543	-			140			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.420A>T	CCDS4695.1																																																																																				0.662	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		179	60	0	0	0	0	179	60				
TMEM14A	28978	broad.mit.edu	37	6	52550825	52550825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:52550825G>C	ENST00000211314.4	+	5	431	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	93						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					ATGATCCTGAGACTTGTCTTG	0.408																																						uc003pax.2		NA																	0					0						c.(277-279)AGA>ACA		transmembrane protein 14A							155.0	141.0	146.0					6																	52550825		2203	4300	6503	SO:0001583	missense	28978					integral to membrane		g.chr6:52550825G>C	AF239771	CCDS4943.1	6p12.3	2008-02-05			ENSG00000096092	ENSG00000096092			21076	protein-coding gene	gene with protein product							Standard	NM_014051		Approved	PTD011, C6orf73	uc003pax.3	Q9Y6G1	OTTHUMG00000014856	ENST00000211314.4:c.278G>C	6.37:g.52550825G>C	ENSP00000211314:p.Arg93Thr						p.R93T	NM_014051	NP_054770	Q9Y6G1	TM14A_HUMAN			5	454	+	Lung NSC(77;0.118)		93			Helical; (Potential).		B2R552	Missense_Mutation	SNP	ENST00000211314.4	37	c.278G>C	CCDS4943.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385752	0.61956	.	.	ENSG00000096092	ENST00000211314	T	0.42131	0.98	5.98	5.98	0.97165	.	0.106801	0.64402	D	0.000007	T	0.59018	0.2163	.	.	.	0.43010	D	0.994548	D	0.76494	0.999	D	0.81914	0.995	T	0.56577	-0.7956	9	0.45353	T	0.12	-9.8228	17.3614	0.87351	0.0:0.0:1.0:0.0	.	93	Q9Y6G1	TM14A_HUMAN	T	93	ENSP00000211314:R93T	ENSP00000211314:R93T	R	+	2	0	TMEM14A	52658784	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.323000	0.65858	2.834000	0.97654	0.655000	0.94253	AGA		0.408	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040916.1	NM_014051		43	15	0	0	0	0	43	15				
GPRC6A	222545	broad.mit.edu	37	6	117121842	117121842	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:117121842G>T	ENST00000310357.3	-	4	1474	c.1453C>A	c.(1453-1455)Cac>Aac	p.H485N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.H310N|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	485					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACAGTCATGTGTCCATTGATC	0.383																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(1453-1455)CAC>AAC		G protein-coupled receptor, family C, group 6,							197.0	172.0	181.0					6																	117121842		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117121842G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1453C>A	6.37:g.117121842G>T	ENSP00000309493:p.His485Asn					GPRC6A_uc003pxk.1_Missense_Mutation_p.H310N|GPRC6A_uc003pxl.1_Intron	p.H485N	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	4	1475	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	485			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1453C>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943300	0.18281	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.85629	-2.01;-2.01	5.45	4.58	0.56647	.	0.399541	0.21428	N	0.074710	T	0.50017	0.1591	N	0.08118	0	0.18873	N	0.999985	P;B	0.35612	0.512;0.224	B;B	0.34346	0.18;0.048	T	0.44757	-0.9307	10	0.17369	T	0.5	.	9.8933	0.41302	0.0727:0.1389:0.7883:0.0	.	310;485	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	N	485;310	ENSP00000309493:H485N;ENSP00000433465:H310N	ENSP00000309493:H485N	H	-	1	0	GPRC6A	117228535	0.856000	0.29760	0.827000	0.32855	0.837000	0.47467	2.985000	0.49362	1.528000	0.49103	0.585000	0.79938	CAC		0.383	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			15	45	1	0	3.27e-08	3.76e-08	15	45				
NOX3	50508	broad.mit.edu	37	6	155743937	155743938	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:155743937_155743938GG>CT	ENST00000159060.2	-	10	1300_1301	c.1198_1199CC>AG	c.(1198-1200)CCa>AGa	p.P400R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	400					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CACACACACTGGGTAGTGAAAT	0.53																																						uc003qqm.2		NA																	0				ovary(1)	1						c.(1198-1200)CCA>AGA		NADPH oxidase 3																																				SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743937_155743938GG>CT	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1198_1199delinsCT	6.37:g.155743937_155743938delinsCT	ENSP00000159060:p.Pro400Arg						p.P400R	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1301_1302	-		Breast(66;0.0183)	400			Helical; (Potential).		Q9HBJ9	Missense_Mutation	DNP	ENST00000159060.2	37	c.1198_1199CC>AG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			30	44	0	0	0	0	30	44				
PACRG	135138	broad.mit.edu	37	6	163510334	163510334	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:163510334C>G	ENST00000337019.3	+	5	731	c.507C>G	c.(505-507)ctC>ctG	p.L169L	PACRG_ENST00000366889.2_Silent_p.L169L|PACRG_ENST00000366888.2_Silent_p.L169L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	169					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GTGTCACTCTCAAGGTCCTCC	0.448																																						uc003qua.2		NA																	0					0						c.(505-507)CTC>CTG		parkin co-regulated gene protein isoform 1							153.0	130.0	138.0					6																	163510334		2203	4300	6503	SO:0001819	synonymous_variant	135138							g.chr6:163510334C>G	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.507C>G	6.37:g.163510334C>G						PACRG_uc003qub.2_Silent_p.L169L|PACRG_uc003quc.2_Silent_p.L169L	p.L169L	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	731	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	169					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	c.507C>G	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.657|9.657	1.142997|1.142997	0.21205|0.21205	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000542936	.|.	.|.	.|.	5.63|5.63	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	T|.	0.50769|.	0.1635|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52503|.	-0.8567|.	4|.	.|.	.|.	.|.	-25.8714|-25.8714	11.2698|11.2698	0.49131|0.49131	0.0:0.7928:0.1355:0.0716|0.0:0.7928:0.1355:0.0716	.|.	.|.	.|.	.|.	E|X	85|27	.|.	.|.	Q|S	+|+	1|2	0|0	PACRG|PACRG	163430324|163430324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.380000|1.380000	0.34351|0.34351	1.384000|1.384000	0.46424|0.46424	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.448	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		12	26	0	0	0	0	12	26				
PDE1C	5137	broad.mit.edu	37	7	31848696	31848696	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:31848696T>C	ENST00000396191.1	-	16	2295	c.1840A>G	c.(1840-1842)Aca>Gca	p.T614A	PDE1C_ENST00000321453.7_Missense_Mutation_p.T614A|PDE1C_ENST00000396182.2_Missense_Mutation_p.T614A|PDE1C_ENST00000396193.1_Missense_Mutation_p.T674A|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396184.3_Missense_Mutation_p.T614A	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	614					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTCTTGTCTGTCTTATTTTTA	0.328																																						uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(1840-1842)ACA>GCA		phosphodiesterase 1C							144.0	129.0	134.0					7																	31848696		2202	4298	6500	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31848696T>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1840A>G	7.37:g.31848696T>C	ENSP00000379494:p.Thr614Ala					PDE1C_uc003tcn.1_Missense_Mutation_p.T614A|PDE1C_uc003tco.1_Missense_Mutation_p.T674A|PDE1C_uc003tcr.2_Missense_Mutation_p.T614A|PDE1C_uc003tcs.2_Missense_Mutation_p.T614A	p.T614A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		16	2309	-			614					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1840A>G	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	9.593	1.126563	0.20959	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.70164	-0.46;-0.45;-0.45;-0.45;-0.45	5.35	-1.94	0.07571	.	0.718916	0.12861	N	0.433131	T	0.38161	0.1030	N	0.11560	0.145	0.21386	N	0.999708	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16453	-1.0402	10	0.22109	T	0.4	.	5.2555	0.15544	0.1696:0.4406:0.0:0.3898	.	614;674;614	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	A	674;614;614;614;614	ENSP00000379496:T674A;ENSP00000379494:T614A;ENSP00000318105:T614A;ENSP00000379487:T614A;ENSP00000379485:T614A	ENSP00000318105:T614A	T	-	1	0	PDE1C	31815221	0.778000	0.28640	0.995000	0.50966	0.998000	0.95712	-0.309000	0.08145	-0.186000	0.10533	0.528000	0.53228	ACA		0.328	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			9	18	0	0	0	0	9	18				
LIMK1	3984	broad.mit.edu	37	7	73521402	73521402	+	Missense_Mutation	SNP	G	G	A	rs371905268		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:73521402G>A	ENST00000336180.2	+	8	995	c.944G>A	c.(943-945)cGc>cAc	p.R315H	LIMK1_ENST00000538333.3_Missense_Mutation_p.R281H|LIMK1_ENST00000418310.1_Missense_Mutation_p.R345H	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	315					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCCTCCCAGCGCAAGGACCTG	0.706																																						uc003uaa.1		NA																	0				stomach(2)|ovary(1)	3						c.(943-945)CGC>CAC		LIM domain kinase 1							24.0	23.0	24.0					7																	73521402		2201	4299	6500	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73521402G>A	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.944G>A	7.37:g.73521402G>A	ENSP00000336740:p.Arg315His					RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.R281H|LIMK1_uc003uac.1_Missense_Mutation_p.R107H	p.R315H	NM_002314	NP_002305	P53667	LIMK1_HUMAN			8	1109	+		Lung NSC(55;0.137)	315					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.944G>A	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438618	0.43326	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.75938	-0.96;-0.95;-0.98	5.19	2.07	0.26955	Protein kinase-like domain (1);	0.249949	0.38326	N	0.001728	T	0.63307	0.2500	L	0.56769	1.78	0.47949	D	0.999553	B;B;B	0.14012	0.008;0.009;0.009	B;B;B	0.11329	0.003;0.006;0.006	T	0.51084	-0.8750	10	0.19590	T	0.45	-22.1721	5.6398	0.17557	0.1992:0.1615:0.6393:0.0	.	210;281;315	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	H	345;315;315;281	ENSP00000409717:R345H;ENSP00000336740:R315H;ENSP00000444452:R281H	ENSP00000336740:R315H	R	+	2	0	LIMK1	73159338	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.575000	0.36493	0.527000	0.28560	0.650000	0.86243	CGC		0.706	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		11	15	0	0	0	0	11	15				
MUC17	140453	broad.mit.edu	37	7	100677236	100677236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:100677236C>T	ENST00000306151.4	+	3	2603	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	847	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACACCTGC	0.502																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2539-2541)CCT>TCT		mucin 17 precursor							281.0	278.0	279.0					7																	100677236		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677236C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2539C>T	7.37:g.100677236C>T	ENSP00000302716:p.Pro847Ser					MUC17_uc010lho.1_RNA	p.P847S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2592	+	Lung NSC(181;0.136)|all_lung(186;0.182)		847			Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2539C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.406	-0.915840	0.02415	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.791	-1.58	0.08479	.	.	.	.	.	T	0.01661	0.0053	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.46992	-0.9151	9	0.02654	T	1	.	1.6915	0.02853	0.3223:0.405:0.0:0.2727	.	847	Q685J3	MUC17_HUMAN	S	847	ENSP00000302716:P847S	ENSP00000302716:P847S	P	+	1	0	MUC17	100463956	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-5.295000	0.00134	-0.889000	0.03950	0.196000	0.17591	CCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		108	197	0	0	0	0	108	197				
KMT2E	55904	broad.mit.edu	37	7	104753117	104753117	+	Silent	SNP	G	G	A	rs546519781		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:104753117G>A	ENST00000311117.3	+	27	5459	c.4914G>A	c.(4912-4914)ccG>ccA	p.P1638P	KMT2E_ENST00000257745.4_Silent_p.P1638P|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Silent_p.P1596P	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1638	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTCCAGGACCGCACCTTGTAC	0.547																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4912-4914)CCG>CCA		myeloid/lymphoid or mixed-lineage leukemia 5							137.0	116.0	123.0					7																	104753117		2203	4300	6503	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104753117G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4914G>A	7.37:g.104753117G>A						MLL5_uc010ljc.2_Silent_p.P1638P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Silent_p.P372P	p.P1638P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5448	+			1638			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.4914G>A	CCDS34723.1																																																																																				0.547	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			3	53	0	0	0	0	3	53				
RNF133	168433	broad.mit.edu	37	7	122338572	122338572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:122338572C>A	ENST00000340112.2	-	1	638	c.401G>T	c.(400-402)gGt>gTt	p.G134V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	134	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G134A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGCCAGTACCTGGAACGTT	0.428																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(400-402)GGT>GTT		ring finger protein 133							118.0	111.0	114.0					7																	122338572		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338572C>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.401G>T	7.37:g.122338572C>A	ENSP00000344489:p.Gly134Val					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.G134V	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	637	-			134			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.401G>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604399	0.66445	.	.	ENSG00000188050	ENST00000340112	T	0.06608	3.28	5.62	5.62	0.85841	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000001	T	0.26846	0.0657	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.00460	-1.1726	10	0.45353	T	0.12	.	14.1536	0.65403	0.15:0.85:0.0:0.0	.	134	Q8WVZ7	RN133_HUMAN	V	134	ENSP00000344489:G134V	ENSP00000344489:G134V	G	-	2	0	RNF133	122125808	0.957000	0.32711	0.994000	0.49952	0.991000	0.79684	2.670000	0.46833	2.644000	0.89710	0.561000	0.74099	GGT		0.428	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		19	60	1	0	6.94e-10	8.02e-10	19	60				
CALU	813	broad.mit.edu	37	7	128407640	128407640	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:128407640C>T	ENST00000249364.4	+	6	876	c.774C>T	c.(772-774)atC>atT	p.I258I	CALU_ENST00000449187.2_Silent_p.I258I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Silent_p.I266I|CALU_ENST00000538546.1_Silent_p.I107I|CALU_ENST00000542996.2_Silent_p.I266I|CALU_ENST00000535011.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	258	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						AAGACTGGATCCTTCCCTCAG	0.502																																						uc003vns.2		NA																	0					0						c.(772-774)ATC>ATT		calumenin isoform b precursor							147.0	133.0	138.0					7																	128407640		2203	4300	6503	SO:0001819	synonymous_variant	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128407640C>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.774C>T	7.37:g.128407640C>T						CALU_uc003vnq.2_Silent_p.I258I|CALU_uc003vnr.2_Silent_p.I258I	p.I258I	NM_001130674	NP_001124146	O43852	CALU_HUMAN			6	926	+			258			EF-hand 5.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Silent	SNP	ENST00000249364.4	37	c.774C>T	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317077	0.23908	.	.	ENSG00000128595	ENST00000493278	.	.	.	5.44	3.65	0.41850	.	.	.	.	.	T	0.57666	0.2069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51865	-0.8651	4	.	.	.	-6.2296	7.6093	0.28120	0.0:0.7403:0.0:0.2597	.	.	.	.	S	90	.	.	P	+	1	0	CALU	128194876	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	0.330000	0.19715	0.684000	0.31448	0.563000	0.77884	CCT		0.502	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		18	10	0	0	0	0	18	10				
ADAM9	8754	broad.mit.edu	37	8	38880809	38880809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:38880809C>G	ENST00000487273.2	+	9	957	c.879C>G	c.(877-879)atC>atG	p.I293M		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	293	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTTTCTTATCACACGTCGGA	0.383																																						uc003xmr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(877-879)ATC>ATG		ADAM metallopeptidase domain 9 isoform 1							149.0	131.0	137.0					8																	38880809		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880809C>G	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.879C>G	8.37:g.38880809C>G	ENSP00000419446:p.Ile293Met					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	p.I293M	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	957	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	293			Extracellular (Potential).|Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.879C>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118459	0.56505	.	.	ENSG00000168615	ENST00000487273	T	0.09538	2.97	5.58	-6.09	0.02145	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.277079	0.41001	D	0.000963	T	0.09202	0.0227	N	0.26092	0.79	0.31957	N	0.608938	P	0.41978	0.767	P	0.50162	0.633	T	0.10064	-1.0646	10	0.37606	T	0.19	.	9.9344	0.41541	0.1394:0.497:0.0:0.3637	.	293	Q13443	ADAM9_HUMAN	M	293	ENSP00000419446:I293M	ENSP00000369249:I293M	I	+	3	3	ADAM9	38999966	0.001000	0.12720	0.743000	0.31040	0.929000	0.56500	-0.262000	0.08682	-0.549000	0.06191	-0.521000	0.04368	ATC		0.383	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			7	33	0	0	0	0	7	33				
ADAM32	203102	broad.mit.edu	37	8	39009051	39009051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:39009051T>C	ENST00000379907.4	+	6	636	c.509T>C	c.(508-510)aTt>aCt	p.I170T	ADAM32_ENST00000519315.1_Missense_Mutation_p.I170T|ADAM32_ENST00000437682.2_Missense_Mutation_p.I177T	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	170						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GATGACAACATTTTTATAAGT	0.254																																						uc003xmt.3		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(508-510)ATT>ACT		a disintegrin and metalloprotease domain 32							55.0	54.0	54.0					8																	39009051		1797	4051	5848	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39009051T>C	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.509T>C	8.37:g.39009051T>C	ENSP00000369238:p.Ile170Thr					ADAM32_uc011lch.1_Missense_Mutation_p.I177T|ADAM32_uc003xmu.3_Missense_Mutation_p.I170T	p.I170T	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		6	754	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	170					Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.509T>C	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243972	0.39697	.	.	ENSG00000197140	ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000399826	T;T;T;T;T	0.21932	2.62;4.04;4.09;4.4;1.98	5.37	1.13	0.20643	.	0.853263	0.09515	N	0.791793	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B;B;B	0.33120	0.279;0.398;0.273	B;B;B	0.36666	0.164;0.184;0.23	T	0.38672	-0.9650	10	0.17832	T	0.49	.	4.977	0.14146	0.326:0.0:0.1689:0.505	.	177;170;170	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	T	129;177;170;170;170;171	ENSP00000382727:I129T;ENSP00000405978:I177T;ENSP00000429422:I170T;ENSP00000369238:I170T;ENSP00000429066:I170T	ENSP00000369238:I170T	I	+	2	0	ADAM32	39128208	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.697000	0.25556	0.351000	0.24027	0.533000	0.62120	ATT		0.254	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		9	15	0	0	0	0	9	15				
PRKDC	5591	broad.mit.edu	37	8	48848436	48848436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:48848436G>C	ENST00000314191.2	-	13	1359	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L435V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	435					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)	AGGTGCTCCAGAACTGGAGTA	0.433								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.(1303-1305)CTG>GTG	NHEJ	protein kinase, DNA-activated, catalytic							79.0	77.0	78.0					8																	48848436		1930	4133	6063	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48848436G>C		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.1303C>G	8.37:g.48848436G>C	ENSP00000313420:p.Leu435Val					PRKDC_uc003xqj.2_Missense_Mutation_p.L435V|PRKDC_uc011ldh.1_Missense_Mutation_p.L435V	p.L435V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			13	1360	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	435					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.1303C>G		.	.	.	.	.	.	.	.	.	.	G	26.9	4.781418	0.90282	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.61742	0.08;0.08	5.96	5.09	0.68999	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.77170	0.4091	.	.	.	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.80903	-0.1174	9	0.72032	D	0.01	.	15.2516	0.73552	0.0669:0.0:0.9331:0.0	.	435;435;435	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	435	ENSP00000313420:L435V;ENSP00000345182:L435V	ENSP00000313420:L435V	L	-	1	2	PRKDC	49010989	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.431000	0.66507	1.537000	0.49254	0.637000	0.83480	CTG		0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	11	0	0	0	0	7	11				
TOX	9760	broad.mit.edu	37	8	59852094	59852094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:59852094C>A	ENST00000361421.1	-	3	398	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	60						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGGCTTGGACCAGGGTAGGAC	0.423																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(178-180)GGT>TGT		thymus high mobility group box protein TOX							110.0	101.0	104.0					8																	59852094		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59852094C>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.178G>T	8.37:g.59852094C>A	ENSP00000354842:p.Gly60Cys						p.G60C	NM_014729	NP_055544	O94900	TOX_HUMAN			3	399	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	60					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.178G>T	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866667	0.72065	.	.	ENSG00000198846	ENST00000361421	T	0.43294	0.95	5.42	5.42	0.78866	.	0.058646	0.64402	D	0.000003	T	0.51669	0.1688	L	0.48642	1.525	0.58432	D	0.999991	D	0.69078	0.997	P	0.53912	0.737	T	0.43442	-0.9391	9	.	.	.	.	19.2089	0.93746	0.0:1.0:0.0:0.0	.	60	O94900	TOX_HUMAN	C	60	ENSP00000354842:G60C	.	G	-	1	0	TOX	60014648	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.475000	0.73582	2.557000	0.86248	0.591000	0.81541	GGT		0.423	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		13	26	1	0	7.93e-07	8.96e-07	13	26				
CSPP1	79848	broad.mit.edu	37	8	68092140	68092140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:68092140G>T	ENST00000262210.5	+	26	3215	c.3184G>T	c.(3184-3186)Gaa>Taa	p.E1062*	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.E717*|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1097					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTCATTATTGGAATCTGATAG	0.274																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(3289-3291)GAA>TAA		centrosome spindle pole associated protein 1							88.0	84.0	85.0					8																	68092140		1790	4059	5849	SO:0001587	stop_gained	79848					centrosome|microtubule|spindle		g.chr8:68092140G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3184G>T	8.37:g.68092140G>T	ENSP00000262210:p.Glu1062*					ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Nonsense_Mutation_p.E1062*|CSPP1_uc003xxk.2_Nonsense_Mutation_p.E717*|CSPP1_uc010lyw.2_Nonsense_Mutation_p.E157*	p.E1097*	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		28	3320	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1097					A6ND63|Q70F00|Q8TBC1	Nonsense_Mutation	SNP	ENST00000262210.5	37	c.3289G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	48	14.323680	0.99790	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.56	5.56	0.83823	.	0.063210	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.3462	18.292	0.90134	0.0:0.0:1.0:0.0	.	.	.	.	X	1062;1097;717;717	.	ENSP00000262210:E1062X	E	+	1	0	CSPP1	68254694	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.719000	0.74718	2.611000	0.88343	0.491000	0.48974	GAA		0.274	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		15	33	1	0	4.15e-12	4.89e-12	15	33				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393																																						uc003yka.2		NA																	0				ovary(2)	2						c.(22-24)ATT>AAT		HSPC038 protein							91.0	82.0	85.0					8																	102213947		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213947A>T	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.23T>A	8.37:g.102213947A>T	ENSP00000430823:p.Ile8Asn					ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	438	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		8					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.23T>A	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895185	0.72639	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	5.39	0.77823	.	0.098661	0.64402	D	0.000002	T	0.46927	0.1418	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.36567	0.228	T	0.55798	-0.8084	8	0.87932	D	0	-7.7891	15.4421	0.75190	1.0:0.0:0.0:0.0	.	8	Q9Y5V0	ZN706_HUMAN	N	8	.	ENSP00000311768:I8N	I	-	2	0	ZNF706	102283123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.054000	0.61138	0.533000	0.62120	ATT		0.393	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096		6	51	0	0	0	0	6	51				
RIMS2	9699	broad.mit.edu	37	8	104928744	104928744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:104928744T>C	ENST00000436393.2	+	6	1590	c.1349T>C	c.(1348-1350)cTt>cCt	p.L450P	RIMS2_ENST00000262231.10_Missense_Mutation_p.L527P|RIMS2_ENST00000406091.3_Missense_Mutation_p.L672P|RIMS2_ENST00000507740.1_Missense_Mutation_p.L480P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	750					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGTAGAACTTGTAGTTTCA	0.348										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1348-1350)CTT>CCT		regulating synaptic membrane exocytosis 2							123.0	117.0	119.0					8																	104928744		1860	4100	5960	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104928744T>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1349T>C	8.37:g.104928744T>C	ENSP00000390665:p.Leu450Pro	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.L672P|RIMS2_uc003ylw.2_Missense_Mutation_p.L480P|RIMS2_uc003ylq.2_Missense_Mutation_p.L480P|RIMS2_uc003ylr.2_Missense_Mutation_p.L527P|RIMS2_uc003ylt.2_Missense_Mutation_p.L73P|RIMS2_uc003ylu.1_Missense_Mutation_p.L63P|RIMS2_uc003ylv.1_Missense_Mutation_p.L63P	p.L450P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		6	1590	+			750			PDZ.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1349T>C		.	.	.	.	.	.	.	.	.	.	T	25.5	4.641224	0.87859	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	.	.	.	.	D	0.85371	0.5681	H	0.97918	4.105	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.996;0.993;1.0;0.999;0.993;0.997	D	0.90813	0.4703	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	750;750;450;527;480;672	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	P	672;703;672;750;63;480;527;480;480;450	ENSP00000427018:L672P;ENSP00000384892:L672P;ENSP00000425205:L480P;ENSP00000262231:L527P;ENSP00000423559:L480P;ENSP00000386228:L480P;ENSP00000390665:L450P	ENSP00000262231:L527P	L	+	2	0	RIMS2	104997920	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.288000	0.76882	0.528000	0.53228	CTT		0.348	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		40	19	0	0	0	0	40	19				
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	rs368813886		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:105001535G>A	ENST00000436393.2	+	15	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R769Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17562	0.0		0.0	False		,,,				2504	0.0					uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2263-2265)CGG>CAG		regulating synaptic membrane exocytosis 2		G	GLN/ARG,GLN/ARG	2,3706		0,2,1852	130.0	126.0	127.0		2930,2306	5.5	1.0	8		127	0,8196		0,0,4098	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	43,43	0,2,5950	AA,AG,GG		0.0,0.0539,0.0168	probably-damaging,probably-damaging	977/1350,769/1164	105001535	2,11902	1854	4098	5952	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001535G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2264G>A	8.37:g.105001535G>A	ENSP00000390665:p.Arg755Gln	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R816Q	p.R755Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2505	+			1039					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2264G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708325	0.68615	5.39E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18502	2.21;2.77;2.41;2.38;2.3;2.65	5.54	5.54	0.83059	.	.	.	.	.	T	0.29389	0.0732	L	0.40543	1.245	0.80722	D	1	B;D;P;D;D	0.69078	0.107;0.997;0.584;0.991;0.996	B;P;B;P;P	0.59221	0.029;0.592;0.05;0.449;0.854	T	0.00872	-1.1532	9	0.20519	T	0.43	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1039;755;816;769;977	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	977;992;977;1039;816;769;769;755	ENSP00000427018:R977Q;ENSP00000384892:R977Q;ENSP00000262231:R816Q;ENSP00000423559:R769Q;ENSP00000386228:R769Q;ENSP00000390665:R755Q	ENSP00000262231:R816Q	R	+	2	0	RIMS2	105070711	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.252000	0.72447	2.617000	0.88574	0.484000	0.47621	CGG		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		18	84	0	0	0	0	18	84				
EIF3H	8667	broad.mit.edu	37	8	117668121	117668121	+	Silent	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:117668121T>C	ENST00000276682.4	-	7	1489	c.723A>G	c.(721-723)aaA>aaG	p.K241K	EIF3H_ENST00000521861.1_Silent_p.K227K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCAATTCATGTTTATCTGCAA	0.378																																						uc003yoa.2		NA																	0				lung(3)	3						c.(679-681)AAA>AAG		eukaryotic translation initiation factor 3,							110.0	99.0	103.0					8																	117668121		2203	4300	6503	SO:0001819	synonymous_variant	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117668121T>C	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.723A>G	8.37:g.117668121T>C						EIF3H_uc003yob.2_Silent_p.K241K	p.K227K	NM_003756	NP_003747	O15372	EIF3H_HUMAN			5	707	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		227						Silent	SNP	ENST00000276682.4	37	c.681A>G																																																																																					0.378	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		29	78	0	0	0	0	29	78				
DERL1	79139	broad.mit.edu	37	8	124042859	124042859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:124042859G>A	ENST00000259512.4	-	2	551	c.251C>T	c.(250-252)aCg>aTg	p.T84M	DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.T84M|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	84					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCAAGTCGCGTAGAATACTG	0.373																																						uc003ypl.2		NA																	0					0						c.(250-252)ACG>ATG		Der1-like domain family, member 1 isoform a							64.0	72.0	69.0					8																	124042859		2203	4300	6503	SO:0001583	missense	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124042859G>A	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.251C>T	8.37:g.124042859G>A	ENSP00000259512:p.Thr84Met					DERL1_uc003ypm.2_Missense_Mutation_p.T84M|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Missense_Mutation_p.T84M	p.T84M	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	537	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		84			Cytoplasmic (Potential).		B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	c.251C>T	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292680	0.59976	.	.	ENSG00000136986	ENST00000259512;ENST00000405944	T;T	0.31247	1.5;1.5	5.65	5.65	0.86999	.	0.095125	0.64402	D	0.000001	T	0.29945	0.0749	L	0.38838	1.175	0.80722	D	1	B;B	0.27316	0.156;0.175	B;B	0.26202	0.04;0.067	T	0.03095	-1.1073	10	0.45353	T	0.12	.	19.6915	0.96002	0.0:0.0:1.0:0.0	.	84;84	Q9BUN8-2;Q9BUN8	.;DERL1_HUMAN	M	84	ENSP00000259512:T84M;ENSP00000384289:T84M	ENSP00000259512:T84M	T	-	2	0	DERL1	124112040	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.686000	0.74548	2.824000	0.97209	0.655000	0.94253	ACG		0.373	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		7	49	0	0	0	0	7	49				
KIAA0196	9897	broad.mit.edu	37	8	126062854	126062854	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:126062854G>A	ENST00000318410.7	-	18	2500	c.2151C>T	c.(2149-2151)cgC>cgT	p.R717R	KIAA0196_ENST00000517845.1_Silent_p.R569R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	717					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAAGGCAACGCGCTTCACAA	0.483																																						uc003yrt.2		NA																	0				ovary(2)	2						c.(2149-2151)CGC>CGT		strumpellin							153.0	134.0	140.0					8																	126062854		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126062854G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2151C>T	8.37:g.126062854G>A						KIAA0196_uc011lir.1_Silent_p.R569R|KIAA0196_uc003yru.1_Silent_p.R291R	p.R717R	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		18	2480	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		717					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.2151C>T	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	6.357	0.434034	0.12045	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.30510	0.0767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42932	-0.9422	4	.	.	.	-11.0554	0.4716	0.00533	0.2728:0.288:0.208:0.2312	.	.	.	.	V	334	.	.	A	-	2	0	KIAA0196	126132036	0.018000	0.18449	0.882000	0.34594	0.517000	0.34286	-0.733000	0.04898	-1.424000	0.01999	-2.396000	0.00226	GCG		0.483	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		10	58	0	0	0	0	10	58				
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(247-249)CAC>TAC		cyclin-dependent kinase inhibitor 2A isoform 1							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	p.H83Y	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	459	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	83		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.247C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		31	7	0	0	0	0	31	7				
SPATA31A6	389730	broad.mit.edu	37	9	43626759	43626759	+	Missense_Mutation	SNP	G	G	A	rs574727392	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:43626759G>A	ENST00000332857.6	-	4	1956	c.1928C>T	c.(1927-1929)aCg>aTg	p.T643M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	643					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T643M(1)									ACCTGTGGACGTGGAGGACTG	0.572													A|||	1567	0.312899	0.2292	0.2795	5008	,	,		8461	0.5516		0.3052	False		,,,				2504	0.2117					uc011lrb.1		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(1927-1929)ACG>ATG		hypothetical protein LOC389730							8.0	7.0	7.0					9																	43626759		454	1111	1565	SO:0001583	missense	389730					integral to membrane		g.chr9:43626759G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1928C>T	9.37:g.43626759G>A	ENSP00000329825:p.Thr643Met						p.T643M	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1957	-			643						Missense_Mutation	SNP	ENST00000332857.6	37	c.1928C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	2.502	-0.314968	0.05422	.	.	ENSG00000185775	ENST00000332857	T	0.06142	3.34	2.36	-4.38	0.03622	.	2.118030	0.02377	N	0.078485	T	0.03390	0.0098	N	0.11427	0.14	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39035	-0.9633	9	0.28530	T	0.3	0.4794	4.5079	0.11898	0.5468:0.1745:0.2787:0.0	.	643	Q5VVP1	F75A6_HUMAN	M	643	ENSP00000329825:T643M	ENSP00000329825:T643M	T	-	2	0	FAM75A6	43566755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.736000	0.04882	-1.194000	0.02684	-3.677000	0.00025	ACG		0.572	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		12	14	0	0	0	0	12	14				
TMEM2	23670	broad.mit.edu	37	9	74327069	74327069	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:74327069C>A	ENST00000377044.4	-	16	3238	c.2699G>T	c.(2698-2700)gGc>gTc	p.G900V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G837V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	900					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGAGGAAGCCAATTGCACT	0.428																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(2698-2700)GGC>GTC		transmembrane protein 2 isoform a							134.0	124.0	127.0					9																	74327069		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74327069C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2699G>T	9.37:g.74327069C>A	ENSP00000366243:p.Gly900Val					TMEM2_uc010mos.2_Missense_Mutation_p.G837V|TMEM2_uc011lsb.1_RNA	p.G900V	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	16	3239	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	900					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2699G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129449	0.77549	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377043	D;D;T	0.86030	-2.06;-2.06;0.35	5.44	5.44	0.79542	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.86420	2.815	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.70487	0.931;0.969	D	0.93749	0.7057	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.865:0.135:0.0	.	900;837	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	900;837;1	ENSP00000366243:G900V;ENSP00000366266:G837V;ENSP00000366242:G1V	ENSP00000366242:G1V	G	-	2	0	TMEM2	73516889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.481000	0.60250	2.732000	0.93576	0.591000	0.81541	GGC		0.428	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		54	9	1	0	7.77e-23	9.37e-23	54	9				
TLE4	7091	broad.mit.edu	37	9	82333859	82333859	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:82333859G>A	ENST00000376552.2	+	15	2581	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	TLE4_ENST00000376520.4_Silent_p.K553K|TLE4_ENST00000376534.4_Silent_p.K158K|TLE4_ENST00000265284.6_Silent_p.K496K|TLE4_ENST00000376544.3_Silent_p.K452K|TLE4_ENST00000376537.4_Silent_p.K553K	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	521					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGGCAATAAGAGTCCTGTCT	0.542																																						uc004ald.2		NA																	0		p.R546C(1)		lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1636-1638)AAG>AAA		transducin-like enhancer protein 4							94.0	95.0	95.0					9																	82333859		2203	4300	6503	SO:0001819	synonymous_variant	7091							g.chr9:82333859G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1563G>A	9.37:g.82333859G>A						TLE4_uc004alc.2_Silent_p.K521K|TLE4_uc010mpr.2_Silent_p.K400K|TLE4_uc004ale.2_Silent_p.K158K|TLE4_uc011lsq.1_Silent_p.K489K|TLE4_uc010mps.2_Silent_p.K445K|TLE4_uc004alf.2_Silent_p.K460K	p.K546K	NM_007005	NP_008936	O60756	BCE1_HUMAN			16	2487	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1638G>A	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418638	0.25552	.	.	ENSG00000106829	ENST00000496114	.	.	.	6.07	4.23	0.50019	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57665	-0.7772	4	.	.	.	-20.776	10.2887	0.43584	0.2019:0.0:0.7981:0.0	.	.	.	.	K	337	.	.	E	+	1	0	TLE4	81523679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.823000	0.75282	0.884000	0.36064	0.655000	0.94253	GAG		0.542	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		9	55	0	0	0	0	9	55				
SYK	6850	broad.mit.edu	37	9	93641137	93641137	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:93641137C>T	ENST00000375754.4	+	11	1631	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	SYK_ENST00000375747.1_Silent_p.L472L|SYK_ENST00000375746.1_Silent_p.L495L|SYK_ENST00000375751.4_Silent_p.L472L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACAGAGATCTGGCTGCAAG	0.433			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1483-1485)CTG>TTG		spleen tyrosine kinase isoform 1							200.0	173.0	182.0					9																	93641137		2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93641137C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1483C>T	9.37:g.93641137C>T						SYK_uc004ara.2_Silent_p.L472L|SYK_uc004arb.2_Silent_p.L472L|SYK_uc004arc.2_Silent_p.L495L|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.L495L	NM_003177	NP_003168	P43405	KSYK_HUMAN			11	1688	+			495			Protein kinase.			Silent	SNP	ENST00000375754.4	37	c.1483C>T	CCDS6688.1																																																																																				0.433	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			16	64	0	0	0	0	16	64				
ZNF510	22869	broad.mit.edu	37	9	99521412	99521412	+	Missense_Mutation	SNP	G	G	A	rs141866339		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:99521412G>A	ENST00000375231.1	-	6	2350	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	ZNF510_ENST00000223428.4_Missense_Mutation_p.T567M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTCCCGTGTGAGTTTT	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.0					uc004awn.1		NA																	0					0						c.(1699-1701)ACG>ATG		zinc finger protein 510							90.0	89.0	90.0					9																	99521412		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521412G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1700C>T	9.37:g.99521412G>A	ENSP00000364379:p.Thr567Met					ZNF510_uc004awo.1_Missense_Mutation_p.T567M	p.T567M	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1889	-		Acute lymphoblastic leukemia(62;0.0527)	567					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1700C>T	CCDS35074.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.29	3.081377	0.55753	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.26373	1.74;1.74	3.02	3.02	0.34903	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47229	0.1434	M	0.67700	2.07	0.34141	D	0.666376	D	0.89917	1.0	D	0.91635	0.999	T	0.62378	-0.6867	9	0.87932	D	0	.	12.2932	0.54831	0.0:0.0:1.0:0.0	.	567	Q9Y2H8	ZN510_HUMAN	M	567	ENSP00000364379:T567M;ENSP00000223428:T567M	ENSP00000223428:T567M	T	-	2	0	ZNF510	98561233	0.999000	0.42202	0.996000	0.52242	0.595000	0.36748	2.852000	0.48310	1.980000	0.57719	0.655000	0.94253	ACG		0.418	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		33	42	0	0	0	0	33	42				
TBC1D2	55357	broad.mit.edu	37	9	100971314	100971314	+	Missense_Mutation	SNP	C	C	T	rs537570553	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:100971314C>T	ENST00000375064.1	-	9	1824	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	TBC1D2_ENST00000375066.5_Missense_Mutation_p.E596K|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E136K|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E378K|TBC1D2_ENST00000493589.2_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	596					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCCACAGCCTCGAGGCCCAGC	0.647													C|||	9	0.00179712	0.0	0.0	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.0092					uc011lvb.1		NA																	0				ovary(3)	3						c.(1786-1788)GAG>AAG		TBC1 domain family, member 2							117.0	124.0	122.0					9																	100971314		2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971314C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1786G>A	9.37:g.100971314C>T	ENSP00000364205:p.Glu596Lys					TBC1D2_uc004ayp.2_Missense_Mutation_p.E136K|TBC1D2_uc004ayq.2_Missense_Mutation_p.E596K|TBC1D2_uc004ayr.2_Missense_Mutation_p.E378K|TBC1D2_uc004ayo.3_Missense_Mutation_p.E596K	p.E596K	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	1966	-		Myeloproliferative disorder(762;0.0255)	596					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1786G>A		.	.	.	.	.	.	.	.	.	.	C	23.2	4.390130	0.82902	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.09538	3.27;2.97;3.38;3.07	5.71	3.8	0.43715	.	0.150121	0.64402	D	0.000014	T	0.29491	0.0735	M	0.63843	1.955	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.00885	-1.1527	10	0.38643	T	0.18	.	15.157	0.72749	0.0:0.7315:0.2684:0.0	.	596;596	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	K	596;596;378;136	ENSP00000364205:E596K;ENSP00000364207:E596K;ENSP00000341567:E378K;ENSP00000364203:E136K	ENSP00000341567:E378K	E	-	1	0	TBC1D2	100011135	0.933000	0.31639	0.493000	0.27502	0.859000	0.49053	2.343000	0.44001	0.713000	0.32060	-0.305000	0.09177	GAG		0.647	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		11	212	0	0	0	0	11	212				
COL15A1	1306	broad.mit.edu	37	9	101788189	101788189	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:101788189C>G	ENST00000375001.3	+	16	2407	c.1984C>G	c.(1984-1986)Cct>Gct	p.P662A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	662	Collagen-like 1.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCCCAGGGCCCTGAGGGACA	0.577																																						uc004azb.1		NA																	0				ovary(6)	6						c.(1984-1986)CCT>GCT		alpha 1 type XV collagen precursor							76.0	67.0	70.0					9																	101788189		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101788189C>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1984C>G	9.37:g.101788189C>G	ENSP00000364140:p.Pro662Ala						p.P662A	NM_001855	NP_001846	P39059	COFA1_HUMAN			16	2190	+		Acute lymphoblastic leukemia(62;0.0562)	662			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1984C>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195674	0.38806	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.95412	-3.7	4.58	3.66	0.41972	.	0.373838	0.28067	N	0.016723	D	0.91660	0.7364	L	0.53729	1.69	0.37327	D	0.9098	B	0.32862	0.387	B	0.31751	0.135	D	0.88388	0.3006	10	0.11182	T	0.66	-9.4603	10.3595	0.43984	0.0:0.8011:0.1989:0.0	.	662	P39059	COFA1_HUMAN	A	662;632	ENSP00000364140:P662A	ENSP00000364140:P662A	P	+	1	0	COL15A1	100828010	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	1.875000	0.39578	1.117000	0.41842	0.491000	0.48974	CCT		0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		10	3	0	0	0	0	10	3				
SNX30	401548	broad.mit.edu	37	9	115598539	115598539	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:115598539A>G	ENST00000374232.3	+	5	828	c.664A>G	c.(664-666)Atg>Gtg	p.M222V		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	222					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCTGACCAGAATGGGCGAGTC	0.507																																						uc004bgj.3		NA																	0					0						c.(664-666)ATG>GTG		sorting nexin family member 30							142.0	136.0	138.0					9																	115598539		2009	4181	6190	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598539A>G	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.664A>G	9.37:g.115598539A>G	ENSP00000363349:p.Met222Val					SNX30_uc004bgi.3_5'Flank	p.M222V	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			5	812	+			222						Missense_Mutation	SNP	ENST00000374232.3	37	c.664A>G	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	A	8.528	0.870408	0.17322	.	.	ENSG00000148158	ENST00000374232	T	0.20332	2.08	5.8	4.9	0.64082	.	0.236106	0.41823	N	0.000807	T	0.09949	0.0244	N	0.16368	0.405	0.38766	D	0.954448	B	0.02656	0.0	B	0.01281	0.0	T	0.13308	-1.0514	10	0.06494	T	0.89	.	6.6503	0.22959	0.309:0.0:0.691:0.0	.	222	Q5VWJ9	SNX30_HUMAN	V	222	ENSP00000363349:M222V	ENSP00000363349:M222V	M	+	1	0	SNX30	114638360	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	2.181000	0.42547	1.430000	0.47334	-0.242000	0.12053	ATG		0.507	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			100	20	0	0	0	0	100	20				
ALAD	210	broad.mit.edu	37	9	116150610	116150610	+	Silent	SNP	C	C	T	rs35581515		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:116150610C>T	ENST00000409155.3	-	12	1159	c.963G>A	c.(961-963)ccG>ccA	p.P321P	ALAD_ENST00000277315.5_Silent_p.P304P|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	321					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCAGCAGCTGCGGTGTGTAGT	0.532																																						uc011lxf.1		NA																	0					0						c.(961-963)CCG>CCA		delta-aminolevulinic acid dehydratase	Aminolevulinic acid(DB00855)						110.0	92.0	98.0					9																	116150610		2203	4300	6503	SO:0001819	synonymous_variant	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116150610C>T	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.963G>A	9.37:g.116150610C>T						ALAD_uc011lxe.1_Silent_p.P304P|ALAD_uc004bhl.3_Silent_p.P350P	p.P321P	NM_000031	NP_000022	P13716	HEM2_HUMAN			12	1165	-			321					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	ENST00000409155.3	37	c.963G>A	CCDS6794.2																																																																																				0.532	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		4	115	0	0	0	0	4	115				
DENND1A	57706	broad.mit.edu	37	9	126319866	126319866	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:126319866C>A	ENST00000373624.2	-	13	1177	c.976G>T	c.(976-978)Gct>Tct	p.A326S	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Missense_Mutation_p.A294S|DENND1A_ENST00000394219.3_Missense_Mutation_p.A294S|DENND1A_ENST00000373620.3_Missense_Mutation_p.A326S|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.A296S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	326	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ATTTTCAGAGCGTTTCGGTAG	0.547																																						uc004bnz.1		NA																	0				ovary(2)	2						c.(976-978)GCT>TCT		DENN/MADD domain containing 1A isoform 1							76.0	67.0	70.0					9																	126319866		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126319866C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.976G>T	9.37:g.126319866C>A	ENSP00000362727:p.Ala326Ser					DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Missense_Mutation_p.A143S|DENND1A_uc011lzm.1_Missense_Mutation_p.A294S|DENND1A_uc004boa.1_Missense_Mutation_p.A326S|DENND1A_uc004bob.1_Missense_Mutation_p.A296S|DENND1A_uc004boc.2_Missense_Mutation_p.A294S	p.A326S	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			13	1209	-			326			dDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.976G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772973	0.90108	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.69	5.69	0.88448	dDENN (3);	0.115026	0.64402	D	0.000015	T	0.68650	0.3024	M	0.83953	2.67	0.80722	D	1	B;D;P;D;B;P	0.56968	0.19;0.978;0.926;0.961;0.26;0.779	P;D;P;D;P;P	0.66196	0.607;0.922;0.878;0.942;0.594;0.701	T	0.70260	-0.4921	10	0.59425	D	0.04	-3.099	20.2405	0.98372	0.0:1.0:0.0:0.0	.	294;294;296;326;326;224	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;DEN1A_HUMAN;.	S	326;294;326;296;294	ENSP00000362727:A326S;ENSP00000377766:A294S;ENSP00000362722:A326S;ENSP00000377763:A296S;ENSP00000362720:A294S	ENSP00000362720:A294S	A	-	1	0	DENND1A	125359687	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	7.360000	0.79487	2.857000	0.98124	0.650000	0.86243	GCT		0.547	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		11	20	1	0	4.69e-08	5.36e-08	11	20				
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	RNA	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:136132863C>T	ENST00000453660.2	-	0	317				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552																																						uc004cda.1		NA																	0					0						c.(307-309)GAC>AAC		ABO blood group (alpha							132.0	148.0	143.0					9																	136132863		2140	4251	6391			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136132863C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136132863C>T						ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_Intron|ABO_uc010nag.1_5'UTR	p.D103N	NM_020469	NP_065202	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	7	332	-			103			Lumenal (Potential).		B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.307G>A																																																																																					0.552	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		3	45	0	0	0	0	3	45				
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:139741083C>G	ENST00000436881.1	+	1	2217	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706																																						uc011meh.1		NA																	0					0						c.(2215-2217)ATC>ATG		chromosome 9 open reading frame 172							9.0	11.0	10.0					9																	139741083		1837	4006	5843	SO:0001583	missense	389813							g.chr9:139741083C>G		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2217C>G	9.37:g.139741083C>G	ENSP00000412388:p.Ile739Met					PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	p.I739M	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	2217	+			739						Missense_Mutation	SNP	ENST00000436881.1	37	c.2217C>G	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	14.03	2.414929	0.42817	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.11	-0.602	0.11634	.	.	.	.	.	T	0.56543	0.1992	M	0.62723	1.935	0.46849	D	0.999229	D	0.60575	0.988	P	0.59288	0.855	T	0.56890	-0.7904	8	0.62326	D	0.03	-10.0417	3.2828	0.06921	0.3686:0.4158:0.0:0.2156	.	739	C9J069	CI172_HUMAN	M	739	.	ENSP00000412388:I739M	I	+	3	3	C9orf172	138860904	0.147000	0.22687	1.000000	0.80357	0.642000	0.38348	-0.709000	0.05030	0.021000	0.15133	0.165000	0.16767	ATC		0.706	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		3	13	0	0	0	0	3	13				
WNK3	65267	broad.mit.edu	37	X	54228471	54228471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:54228471G>T	ENST00000375159.2	-	22	5025	c.5026C>A	c.(5026-5028)Caa>Aaa	p.Q1676K	WNK3_ENST00000354646.2_Missense_Mutation_p.Q1676K|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1619K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1676					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGACTTTGTTTAAGTTGG	0.338																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(4855-4857)CAA>AAA		WNK lysine deficient protein kinase 3 isoform 2							193.0	156.0	169.0					X																	54228471		2202	4299	6501	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54228471G>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.5026C>A	X.37:g.54228471G>T	ENSP00000364301:p.Gln1676Lys					WNK3_uc004dtc.1_Missense_Mutation_p.Q1676K	p.Q1619K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			22	5294	-			1619					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4855C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427763	0.43122	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.31769	1.48;1.48;1.48	5.01	4.12	0.48240	.	0.249446	0.28482	N	0.015192	T	0.48909	0.1526	M	0.77820	2.39	0.34623	D	0.718849	D;D	0.69078	0.996;0.997	D;P	0.72982	0.979;0.889	T	0.59284	-0.7483	10	0.02654	T	1	-0.3277	12.6294	0.56649	0.0:0.0:0.8327:0.1673	.	1619;1676	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1619;1676;1676	ENSP00000364312:Q1619K;ENSP00000346667:Q1676K;ENSP00000364301:Q1676K	ENSP00000346667:Q1676K	Q	-	1	0	WNK3	54245196	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.872000	0.63050	0.848000	0.35191	0.600000	0.82982	CAA		0.338	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		6	13	1	0	5.18e-06	5.78e-06	6	13				
MORF4L2	9643	broad.mit.edu	37	X	102931249	102931249	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:102931249C>G	ENST00000441076.2	-	4	1011	c.707G>C	c.(706-708)gGa>gCa	p.G236A	MORF4L2_ENST00000451301.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000423833.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000433176.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000360458.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000422154.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000492116.1_5'Flank	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	236	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G236V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CAACATTGCTCCAATTCTTAC	0.443																																						uc004ekw.2		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(706-708)GGA>GCA		mortality factor 4 like 2							85.0	70.0	75.0					X																	102931249		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931249C>G	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.707G>C	X.37:g.102931249C>G	ENSP00000391969:p.Gly236Ala					MORF4L2_uc004ela.2_Missense_Mutation_p.G236A|MORF4L2_uc004ekx.2_Missense_Mutation_p.G236A|MORF4L2_uc004elb.2_Missense_Mutation_p.G236A|MORF4L2_uc004eky.2_Missense_Mutation_p.G236A|MORF4L2_uc010nos.2_Missense_Mutation_p.G236A|MORF4L2_uc004ekz.2_Missense_Mutation_p.G236A|MORF4L2_uc011mry.1_Missense_Mutation_p.G236A|MORF4L2_uc011mrz.1_Missense_Mutation_p.G236A|MORF4L2_uc004elc.2_Missense_Mutation_p.G236A|MORF4L2_uc004elf.2_Missense_Mutation_p.G236A|MORF4L2_uc004ele.2_Missense_Mutation_p.G236A|MORF4L2_uc011msa.1_Missense_Mutation_p.G236A|MORF4L2_uc011msb.1_Missense_Mutation_p.G236A|MORF4L2_uc011msc.1_Missense_Mutation_p.G236A|MORF4L2_uc011msd.1_Missense_Mutation_p.G236A|MORF4L2_uc004eld.2_Missense_Mutation_p.G236A	p.G236A	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1939	-			236					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.707G>C	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448920	0.63178	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833	T;T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0;3.0	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	M	0.79258	2.445	0.80722	D	1	D	0.57899	0.981	P	0.48598	0.583	T	0.01541	-1.1329	10	0.32370	T	0.25	-3.9953	14.5691	0.68200	0.0:1.0:0.0:0.0	.	236	Q15014	MO4L2_HUMAN	A	236;118;236;236;236;218;236;236	ENSP00000353643:G236A;ENSP00000361703:G118A;ENSP00000415476:G236A;ENSP00000394417:G236A;ENSP00000410532:G236A;ENSP00000391969:G236A;ENSP00000416120:G236A	ENSP00000353643:G236A	G	-	2	0	MORF4L2	102817905	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.390000	0.59646	2.618000	0.88619	0.600000	0.82982	GGA		0.443	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		4	33	0	0	0	0	4	33				
DOCK11	139818	broad.mit.edu	37	X	117773475	117773475	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:117773475C>T	ENST00000276202.7	+	38	4142	c.4079C>T	c.(4078-4080)tCa>tTa	p.S1360L	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1360L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1360					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CGAAACAGATCAGGAGTAATG	0.428																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(4078-4080)TCA>TTA		dedicator of cytokinesis 11							93.0	80.0	85.0					X																	117773475		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117773475C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4079C>T	X.37:g.117773475C>T	ENSP00000276202:p.Ser1360Leu					DOCK11_uc004eqq.2_Missense_Mutation_p.S1139L	p.S1360L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			38	4142	+			1360					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4079C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494302	0.64186	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18960	2.18;2.18	5.12	5.12	0.69794	.	0.148706	0.43416	D	0.000579	T	0.19287	0.0463	L	0.34521	1.04	0.48288	D	0.999624	B;B	0.13594	0.008;0.008	B;B	0.15052	0.012;0.012	T	0.02933	-1.1092	10	0.30078	T	0.28	-8.5203	18.0421	0.89322	0.0:1.0:0.0:0.0	.	1360;1360	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	1360	ENSP00000276204:S1360L;ENSP00000276202:S1360L	ENSP00000276202:S1360L	S	+	2	0	DOCK11	117657503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.305000	0.65750	2.284000	0.76573	0.468000	0.43344	TCA		0.428	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		13	15	0	0	0	0	13	15				
ZNF365	22891	broad.mit.edu	37	10	64425946	64425946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:64425946delC	ENST00000395251.1	+	6	874	c.540delC	c.(538-540)ctcfs	p.L180fs	ZNF365_ENST00000410046.3_Frame_Shift_Del_p.L426fs|ZNF365_ENST00000395249.1_Frame_Shift_Del_p.L32fs	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	180										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGACAACTCCAAAATTGTG	0.413																																						uc001jmd.1		NA																	0				ovary(1)|skin(1)	2						c.(538-540)CTCfs		zinc finger protein 365 isoform D							121.0	117.0	119.0					10																	64425946		2203	4300	6503	SO:0001589	frameshift_variant	22891							g.chr10:64425946delC	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.540delC	10.37:g.64425946delC	ENSP00000378672:p.Leu180fs					ZNF365_uc001jmc.2_Frame_Shift_Del_p.L426fs|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_Intron	p.L180fs	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN			6	874	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		180						Frame_Shift_Del	DEL	ENST00000395251.1	37	c.540delC	CCDS7265.1																																																																																				0.413	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		7	22	NA	NA	NA	NA	7	22	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112343699	112343701	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:112343699_112343701delAAG	ENST00000361804.4	+	12	1196_1198	c.1070_1072delAAG	c.(1069-1074)aaagaa>aaa	p.E359del		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	359					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGAAAGAGAAAGAAGAACGAGG	0.36																																						uc001kze.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1069-1074)AAAGAA>AAA		structural maintenance of chromosomes 3																																				SO:0001651	inframe_deletion	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112343699_112343701delAAG	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1070_1072delAAG	10.37:g.112343702_112343704delAAG	ENSP00000354720:p.Glu359del						p.E359del	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	12	1196_1198	+		Breast(234;0.0848)|Lung NSC(174;0.238)	359					A8K156|O60464|Q5T482	In_Frame_Del	DEL	ENST00000361804.4	37	c.1070_1072delAAG	CCDS31285.1																																																																																				0.360	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		8	25	NA	NA	NA	NA	8	25	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					uc001ujn.2		NA																	9	Substitution - coding silent(9)		lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8179-8184)insCAG		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_uc001ujl.2_In_Frame_Ins_p.2747_2748insQ|EP400_uc001ujm.2_In_Frame_Ins_p.2667_2668insQ|EP400_uc001ujp.2_5'UTR	p.2748_2749insQ	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8216_8217	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2784_2785			Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8181_8182insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	34	NA	NA	NA	NA	7	34	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16338750	16338750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:16338750delA	ENST00000400202.1	-	3	2476	c.1764delT	c.(1762-1764)tctfs	p.S588fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.S588fs|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.S588fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	588	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTAGCTTTTCAGACTGAGTAC	0.438																																						uc002yjx.2		NA																	0					0						c.(1762-1764)TCTfs		nuclear receptor interacting protein 1							249.0	246.0	247.0					21																	16338750		2203	4300	6503	SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338750delA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1764delT	21.37:g.16338750delA	ENSP00000383063:p.Ser588fs						p.S588fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	2362	-			588			Repression domain 2.		Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	c.1764delT	CCDS13568.1																																																																																				0.438	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		101	76	NA	NA	NA	NA	101	76	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47384376	47384388	+	Frame_Shift_Del	DEL	GCTGGGCTGCTCA	GCTGGGCTGCTCA	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:47384376_47384388delGCTGGGCTGCTCA	ENST00000398879.1	-	20	2981_2993	c.2615_2627delTGAGCAGCCCAGC	c.(2614-2628)ctgagcagcccagccfs	p.LSSPA872fs	TNS3_ENST00000311160.9_Frame_Shift_Del_p.LSSPA872fs|TNS3_ENST00000355730.3_Frame_Shift_Del_p.LSSPA632fs			Q68CZ2	TENS3_HUMAN	tensin 3	872					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTGCTGACTGGCTGGGCTGCTCAGCGGGGGCTC	0.61																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(2614-2628)CTGAGCAGCCCAGCCfs		tensin 3																																				SO:0001589	frameshift_variant	64759					focal adhesion	protein binding	g.chr7:47384376_47384388delGCTGGGCTGCTCA	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2615_2627delTGAGCAGCCCAGC	7.37:g.47384376_47384388delGCTGGGCTGCTCA	ENSP00000381854:p.Leu872fs					TNS3_uc003tnw.2_Frame_Shift_Del_p.L872fs	p.L872fs	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			20	2982_2994	-			872_876					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Frame_Shift_Del	DEL	ENST00000398879.1	37	c.2615_2627delTGAGCAGCCCAGC	CCDS5506.2																																																																																				0.610	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		9	75	NA	NA	NA	NA	9	75	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(667-669)CAGdel		SWI/SNF-related matrix-associated																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_uc003zhd.2_In_Frame_Del_p.Q238del|SMARCA2_uc010mha.2_In_Frame_Del_p.Q229del	p.Q238del	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	766_768	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		10	31	NA	NA	NA	NA	10	31	---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72933828	72933829	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:72933828_72933829insA	ENST00000361138.5	+	15	2157_2158	c.2099_2100insA	c.(2098-2103)agaaaafs	p.RK700fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	700					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTTCTTGAGAGAAAAACCAAGA	0.406																																						uc004ahr.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2098-2100)AGAfs		SMC5 protein																																				SO:0001589	frameshift_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72933828_72933829insA	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2104dupA	9.37:g.72933833_72933833dupA	ENSP00000354957:p.Arg700fs					uc004ahs.1_5'Flank	p.R700fs	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			15	2216_2217	+			700			Potential.		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Frame_Shift_Ins	INS	ENST00000361138.5	37	c.2099_2100insA	CCDS6632.1																																																																																				0.406	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		8	10	NA	NA	NA	NA	8	10	---	---	---	---
